Incidental Mutation 'R1729:Crb1'
ID 198853
Institutional Source Beutler Lab
Gene Symbol Crb1
Ensembl Gene ENSMUSG00000063681
Gene Name crumbs family member 1, photoreceptor morphogenesis associated
Synonyms A930008G09Rik, 7530426H14Rik
MMRRC Submission 039761-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R1729 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 139124794-139304838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 139170733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 825 (G825R)
Ref Sequence ENSEMBL: ENSMUSP00000142552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059825] [ENSMUST00000196402] [ENSMUST00000198445]
AlphaFold Q8VHS2
Predicted Effect probably damaging
Transcript: ENSMUST00000059825
AA Change: G886R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060769
Gene: ENSMUSG00000063681
AA Change: G886R

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
EGF 72 107 5.97e-4 SMART
EGF 112 145 9.19e-5 SMART
EGF_CA 147 183 2.89e-11 SMART
EGF_CA 185 221 1.14e-9 SMART
EGF_CA 223 259 2.26e-13 SMART
EGF_CA 261 298 5.15e-8 SMART
EGF 303 336 8.12e-6 SMART
EGF 341 394 2.6e-4 SMART
EGF_CA 396 438 2.54e-7 SMART
EGF 443 480 1.47e-3 SMART
LamG 505 650 1.75e-9 SMART
EGF 674 707 6.5e-5 SMART
LamG 734 859 1.05e-7 SMART
EGF 889 922 1.19e-3 SMART
LamG 971 1104 6.85e-12 SMART
EGF 1141 1174 7.07e-6 SMART
EGF_CA 1176 1211 3.01e-9 SMART
EGF 1216 1249 3.57e-2 SMART
EGF 1257 1294 6.92e0 SMART
EGF_CA 1296 1332 4.19e-8 SMART
transmembrane domain 1346 1368 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196402
SMART Domains Protein: ENSMUSP00000142702
Gene: ENSMUSG00000063681

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
EGF 72 107 5.97e-4 SMART
EGF 112 145 9.19e-5 SMART
EGF_CA 147 183 2.89e-11 SMART
EGF_CA 185 221 1.14e-9 SMART
EGF_CA 223 259 2.26e-13 SMART
EGF_CA 261 298 5.15e-8 SMART
EGF 303 336 8.12e-6 SMART
EGF 341 394 2.6e-4 SMART
EGF_CA 396 438 2.54e-7 SMART
EGF 443 480 1.47e-3 SMART
LamG 505 650 1.75e-9 SMART
EGF 674 707 6.5e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198445
AA Change: G825R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142552
Gene: ENSMUSG00000063681
AA Change: G825R

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
EGF 72 107 5.97e-4 SMART
EGF 112 145 9.19e-5 SMART
EGF_CA 147 183 2.89e-11 SMART
EGF_CA 185 221 1.14e-9 SMART
EGF_CA 223 259 2.26e-13 SMART
EGF_CA 261 298 5.15e-8 SMART
EGF 303 333 1.63e1 SMART
EGF_CA 335 377 2.54e-7 SMART
EGF 382 419 1.47e-3 SMART
LamG 444 589 1.75e-9 SMART
EGF 613 646 6.5e-5 SMART
LamG 673 798 1.05e-7 SMART
EGF 828 861 1.19e-3 SMART
LamG 910 1043 6.85e-12 SMART
EGF 1080 1113 7.07e-6 SMART
EGF_CA 1115 1150 3.01e-9 SMART
EGF 1155 1188 3.57e-2 SMART
EGF 1196 1233 6.92e0 SMART
EGF_CA 1235 1271 4.19e-8 SMART
low complexity region 1282 1296 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199291
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygotes for a null allele show focal retinal lesions, loss of adherens junctions between photoreceptors and Muller glia cells, and light-accelerated retinal degeneration. Homozygotes for a spontaneous allele show background-sensitive retinal spotting, photoreceptor dysplasia and degeneration. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted(4) Spontaneous(1)
 

Other mutations in this stock
Total: 221 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik G A 15: 37,439,844 (GRCm39) probably benign Het
4930453N24Rik T C 16: 64,589,385 (GRCm39) I90V probably damaging Het
Aadat A G 8: 60,979,746 (GRCm39) T203A probably damaging Het
Adam34l T C 8: 44,078,620 (GRCm39) N535D probably damaging Het
Adamts17 C T 7: 66,799,704 (GRCm39) R1060* probably null Het
Adamts5 T A 16: 85,674,803 (GRCm39) K454* probably null Het
Adgrg6 T C 10: 14,315,526 (GRCm39) T593A probably damaging Het
Aldh1l2 T A 10: 83,343,946 (GRCm39) K377* probably null Het
Aldh4a1 A G 4: 139,371,472 (GRCm39) Y462C probably damaging Het
Ankrd12 G T 17: 66,291,071 (GRCm39) P1454Q probably benign Het
Ap2m1 T A 16: 20,358,088 (GRCm39) N35K probably damaging Het
Aspm A G 1: 139,401,312 (GRCm39) I1111V probably benign Het
Atr G A 9: 95,779,634 (GRCm39) V1331I probably benign Het
Boc T C 16: 44,316,782 (GRCm39) T454A probably benign Het
C4bp C G 1: 130,570,725 (GRCm39) V284L probably benign Het
Cacna1s T C 1: 136,046,454 (GRCm39) F1761S probably benign Het
Camsap2 C T 1: 136,209,053 (GRCm39) R802Q probably benign Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Car14 G A 3: 95,808,560 (GRCm39) P18L possibly damaging Het
Cbs G T 17: 31,839,923 (GRCm39) A337E probably benign Het
Ccdc186 A C 19: 56,797,652 (GRCm39) H306Q probably benign Het
Ccdc93 C T 1: 121,383,855 (GRCm39) P192L probably benign Het
Ccdc93 T C 1: 121,389,668 (GRCm39) V237A probably benign Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cd55 C A 1: 130,387,370 (GRCm39) A143S probably benign Het
Cdh19 C A 1: 110,821,114 (GRCm39) E541D probably damaging Het
Cdh20 C G 1: 109,993,465 (GRCm39) L307V possibly damaging Het
Cdk12 T C 11: 98,140,796 (GRCm39) probably benign Het
Cep350 A T 1: 155,787,727 (GRCm39) H1370Q probably benign Het
Cfh T C 1: 140,064,526 (GRCm39) K374R probably benign Het
Cfh C T 1: 140,075,435 (GRCm39) V268I possibly damaging Het
Cfhr2 A G 1: 139,741,180 (GRCm39) M265T probably benign Het
Cfhr2 A C 1: 139,741,197 (GRCm39) N259K probably benign Het
Chat A T 14: 32,168,752 (GRCm39) L261H probably damaging Het
Chi3l1 C T 1: 134,116,267 (GRCm39) A250V probably damaging Het
Clcn1 T A 6: 42,276,448 (GRCm39) F360Y possibly damaging Het
Clgn A G 8: 84,149,659 (GRCm39) S387G probably damaging Het
Clk1 C T 1: 58,460,420 (GRCm39) R70Q probably damaging Het
Cntnap5a C T 1: 116,382,873 (GRCm39) T1047I probably benign Het
Cntnap5a C A 1: 116,382,734 (GRCm39) L1001I probably benign Het
Cntnap5a T C 1: 116,382,831 (GRCm39) L1033S probably benign Het
Cspg4 G T 9: 56,805,821 (GRCm39) V2211L probably benign Het
Cwh43 T C 5: 73,565,561 (GRCm39) L42P probably damaging Het
Cxcr4 C T 1: 128,517,014 (GRCm39) V216I probably benign Het
Cyb5r1 C T 1: 134,335,405 (GRCm39) R147W probably damaging Het
D830039M14Rik C T 10: 61,311,506 (GRCm39) probably benign Het
Ddx59 T C 1: 136,344,791 (GRCm39) V154A probably benign Het
Dhx30 T C 9: 109,927,819 (GRCm39) H101R probably damaging Het
Dnah11 T A 12: 117,880,666 (GRCm39) D3818V probably damaging Het
Dnah9 G A 11: 65,975,846 (GRCm39) T1401I possibly damaging Het
Dsel G C 1: 111,787,724 (GRCm39) T937S probably benign Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Dstyk C T 1: 132,384,722 (GRCm39) L739F probably damaging Het
Ehf T G 2: 103,104,251 (GRCm39) T186P possibly damaging Het
Elf2 A T 3: 51,164,993 (GRCm39) V277D probably damaging Het
Etnk2 A G 1: 133,291,661 (GRCm39) S54G probably benign Het
Etnk2 C A 1: 133,293,325 (GRCm39) D89E probably benign Het
Etnk2 G T 1: 133,293,503 (GRCm39) G149W probably damaging Het
Etnk2 C T 1: 133,293,554 (GRCm39) R166* probably null Het
Etnk2 G A 1: 133,293,555 (GRCm39) R166Q probably benign Het
Etnk2 T A 1: 133,304,653 (GRCm39) V292E probably benign Het
Eya2 G T 2: 165,529,583 (GRCm39) G109W probably damaging Het
Fam72a C T 1: 131,466,633 (GRCm39) T139M probably benign Het
Fam72a T C 1: 131,458,406 (GRCm39) I56T probably benign Het
Fam78b A G 1: 166,829,199 (GRCm39) D22G possibly damaging Het
Fastkd2 T A 1: 63,790,459 (GRCm39) C628* probably null Het
Fat3 A C 9: 15,907,611 (GRCm39) V2797G possibly damaging Het
Fcamr A G 1: 130,739,317 (GRCm39) I206V probably benign Het
Fcamr G A 1: 130,740,366 (GRCm39) G262S probably benign Het
Fcamr A G 1: 130,740,429 (GRCm39) I283V probably benign Het
Fcamr T C 1: 130,740,475 (GRCm39) V298A probably benign Het
Fcamr A G 1: 130,740,546 (GRCm39) M322V probably benign Het
Fcamr C T 1: 130,740,553 (GRCm39) P324L probably benign Het
Fcamr A G 1: 130,742,334 (GRCm39) N574D probably benign Het
Fcamr A C 1: 130,732,364 (GRCm39) N117T probably benign Het
Fcmr T C 1: 130,806,006 (GRCm39) S321P probably benign Het
Fcmr A G 1: 130,803,711 (GRCm39) T172A probably benign Het
Fut10 T A 8: 31,691,418 (GRCm39) S88T probably benign Het
Gabarap C T 11: 69,882,515 (GRCm39) probably benign Het
Gli2 G T 1: 118,929,774 (GRCm39) H44Q probably benign Het
Gli2 C T 1: 118,795,817 (GRCm39) A113T possibly damaging Het
Gon4l T A 3: 88,810,405 (GRCm39) D1844E probably damaging Het
Gpr25 G A 1: 136,188,448 (GRCm39) P55L probably benign Het
Guk1 A T 11: 59,076,138 (GRCm39) V100E probably damaging Het
Ifi44l T C 3: 151,468,456 (GRCm39) I25V unknown Het
Igfn1 T C 1: 135,926,421 (GRCm39) I10V unknown Het
Igfn1 G A 1: 135,910,213 (GRCm39) R124W probably benign Het
Igfn1 C T 1: 135,907,653 (GRCm39) A231T probably benign Het
Igfn1 C T 1: 135,899,865 (GRCm39) R482Q probably benign Het
Igfn1 T C 1: 135,898,149 (GRCm39) S806G probably benign Het
Igfn1 G A 1: 135,895,937 (GRCm39) A1543V probably benign Het
Igfn1 G A 1: 135,887,666 (GRCm39) P2466L probably damaging Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Ikbke T C 1: 131,197,560 (GRCm39) S447G probably benign Het
Ikbke C A 1: 131,193,674 (GRCm39) A459S probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Itprid1 T C 6: 55,945,526 (GRCm39) F749S probably benign Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcnt2 G A 1: 140,282,285 (GRCm39) S90N probably benign Het
Kif14 A G 1: 136,396,017 (GRCm39) N108D probably benign Het
Kif14 T C 1: 136,453,521 (GRCm39) V1433A probably benign Het
Kif14 T C 1: 136,443,699 (GRCm39) F1291L probably benign Het
Kif14 C T 1: 136,431,169 (GRCm39) L1189F probably benign Het
Kif14 A G 1: 136,418,070 (GRCm39) S868G probably benign Het
Kif14 G A 1: 136,406,103 (GRCm39) A556T probably benign Het
Kif14 A G 1: 136,396,713 (GRCm39) K340E probably damaging Het
Kif18b A G 11: 102,806,367 (GRCm39) probably null Het
Kif26a T C 12: 112,143,219 (GRCm39) S1158P possibly damaging Het
Kmt2d A G 15: 98,763,013 (GRCm39) C279R probably damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Krt23 A T 11: 99,383,790 (GRCm39) V34D probably damaging Het
Lad1 C T 1: 135,755,119 (GRCm39) P132S possibly damaging Het
Lad1 C T 1: 135,755,761 (GRCm39) R346C probably damaging Het
Lax1 G A 1: 133,611,372 (GRCm39) P67S probably damaging Het
Lax1 T C 1: 133,607,716 (GRCm39) R342G probably benign Het
Lax1 T C 1: 133,608,307 (GRCm39) N145D probably benign Het
Lgr6 A T 1: 134,915,747 (GRCm39) S334T probably benign Het
Lgr6 G T 1: 134,918,373 (GRCm39) H263N probably benign Het
Lgr6 C T 1: 134,931,214 (GRCm39) S3N probably benign Het
Lgr6 C T 1: 134,914,826 (GRCm39) V641I probably benign Het
Lmod1 C T 1: 135,291,811 (GRCm39) T222I probably benign Het
Mb21d2 A G 16: 28,647,173 (GRCm39) V267A probably benign Het
Megf10 T C 18: 57,373,864 (GRCm39) probably null Het
Mfrp A G 9: 44,015,884 (GRCm39) T334A possibly damaging Het
Miga2 A G 2: 30,258,980 (GRCm39) H63R probably damaging Het
Mrgbp T A 2: 180,227,242 (GRCm39) N192K probably damaging Het
Mrgpra2b A G 7: 47,114,627 (GRCm39) I35T probably benign Het
Mroh3 G C 1: 136,119,882 (GRCm39) Q440E possibly damaging Het
Mybph C T 1: 134,125,218 (GRCm39) R249C probably benign Het
Nav1 A T 1: 135,512,465 (GRCm39) D198E possibly damaging Het
Ndufaf7 A T 17: 79,245,058 (GRCm39) K59M probably damaging Het
Necab3 T C 2: 154,388,795 (GRCm39) S208G probably benign Het
Nfrkb C T 9: 31,325,932 (GRCm39) T1125M probably benign Het
Npnt G A 3: 132,620,158 (GRCm39) Q112* probably null Het
Nr5a2 C A 1: 136,879,863 (GRCm39) R35L probably benign Het
Nrcam A G 12: 44,620,633 (GRCm39) K893E probably benign Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc C G 1: 133,832,908 (GRCm39) S64T probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or8b12i A T 9: 20,082,209 (GRCm39) Y219* probably null Het
Otoa T C 7: 120,724,662 (GRCm39) V447A probably benign Het
Patj G A 4: 98,320,017 (GRCm39) G428D possibly damaging Het
Pigr C T 1: 130,772,259 (GRCm39) A159V possibly damaging Het
Pik3c2b C T 1: 132,994,365 (GRCm39) P110S probably benign Het
Pkn2 G A 3: 142,516,462 (GRCm39) P555S probably benign Het
Pla2g12a A G 3: 129,688,589 (GRCm39) E149G probably benign Het
Plec C A 15: 76,061,892 (GRCm39) E2547* probably null Het
Plekha6 C G 1: 133,215,584 (GRCm39) T792S probably benign Het
Ppfia4 G A 1: 134,227,059 (GRCm39) P1159S probably benign Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptpn7 A G 1: 135,062,213 (GRCm39) Q53R probably benign Het
Ptprc T G 1: 138,027,414 (GRCm39) N478T probably benign Het
Ptprc T C 1: 138,039,992 (GRCm39) K212E possibly damaging Het
Ptprc A G 1: 138,035,575 (GRCm39) V400A probably benign Het
Ptprc C A 1: 138,035,562 (GRCm39) E402D probably benign Het
Ptprc A G 1: 138,035,561 (GRCm39) S405P probably benign Het
Rab29 A G 1: 131,799,848 (GRCm39) Q141R probably benign Het
Rab3gap1 T G 1: 127,870,223 (GRCm39) L948R probably damaging Het
Rbsn A T 6: 92,167,000 (GRCm39) L548Q possibly damaging Het
Ren1 T A 1: 133,281,944 (GRCm39) W22R probably damaging Het
Ren1 C G 1: 133,287,745 (GRCm39) L360V probably benign Het
Ren1 A T 1: 133,286,817 (GRCm39) E315D probably benign Het
Ren1 C T 1: 133,281,975 (GRCm39) T32I probably benign Het
Rint1 T A 5: 24,014,841 (GRCm39) D352E probably benign Het
Rnpep C T 1: 135,190,834 (GRCm39) A571T possibly damaging Het
Rnpep G C 1: 135,211,715 (GRCm39) A11G probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Ro60 C T 1: 143,635,752 (GRCm39) V465I probably benign Het
Sctr T C 1: 119,959,386 (GRCm39) F110L probably benign Het
Sctr G A 1: 119,990,987 (GRCm39) S440N possibly damaging Het
Sctr G T 1: 119,990,976 (GRCm39) E453D probably benign Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Serpinb10 C T 1: 107,466,203 (GRCm39) S63F probably damaging Het
Serpinb2 G A 1: 107,443,365 (GRCm39) A55T probably damaging Het
Serpinb2 A C 1: 107,452,273 (GRCm39) S284R probably benign Het
Serpinb2 C T 1: 107,451,624 (GRCm39) T259I probably benign Het
Serpinb2 C T 1: 107,451,620 (GRCm39) H258Y probably benign Het
Serpinb2 C A 1: 107,451,564 (GRCm39) A239E probably benign Het
Serpinb8 A G 1: 107,525,257 (GRCm39) S20G probably benign Het
Serpinb8 A C 1: 107,534,734 (GRCm39) L268F probably benign Het
Serpinb8 G A 1: 107,526,684 (GRCm39) A75T probably benign Het
Slain2 A G 5: 73,114,957 (GRCm39) H396R probably damaging Het
Slc22a5 G A 11: 53,757,177 (GRCm39) P491L probably damaging Het
Slc26a4 A G 12: 31,594,493 (GRCm39) V285A possibly damaging Het
Slc26a9 C T 1: 131,691,608 (GRCm39) A617V probably benign Het
Slc26a9 C A 1: 131,693,750 (GRCm39) R747S probably benign Het
Slc9a8 T C 2: 167,266,065 (GRCm39) F14S probably benign Het
Spock3 T C 8: 63,802,011 (GRCm39) L330P probably damaging Het
Steap3 G A 1: 120,162,108 (GRCm39) A350V probably benign Het
Steap3 T C 1: 120,155,480 (GRCm39) N493S probably benign Het
Synpo2l G A 14: 20,715,887 (GRCm39) P233S probably damaging Het
Tasor A T 14: 27,201,590 (GRCm39) N1367Y probably damaging Het
Tbc1d19 T G 5: 53,986,714 (GRCm39) I41S probably damaging Het
Tecta G A 9: 42,303,218 (GRCm39) T138I probably benign Het
Thsd7b G C 1: 129,605,920 (GRCm39) A554P probably benign Het
Thsd7b A C 1: 130,044,368 (GRCm39) Q1116P probably benign Het
Thsd7b C T 1: 129,556,628 (GRCm39) T328I probably damaging Het
Thsd7b T A 1: 129,595,674 (GRCm39) F498Y probably benign Het
Tmem241 T A 18: 12,201,369 (GRCm39) H157L probably damaging Het
Tnfrsf25 T A 4: 152,202,761 (GRCm39) probably null Het
Tnnt2 C T 1: 135,773,244 (GRCm39) probably benign Het
Traf3ip3 T A 1: 192,864,201 (GRCm39) Q394L probably benign Het
Traf7 A G 17: 24,731,353 (GRCm39) F228L probably damaging Het
Trhr A G 15: 44,060,549 (GRCm39) E23G probably damaging Het
Trim59 T C 3: 68,944,186 (GRCm39) T385A probably benign Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Tubgcp2 T C 7: 139,577,968 (GRCm39) T779A probably benign Het
Tusc2 A T 9: 107,441,830 (GRCm39) I68F probably damaging Het
Ube2t C T 1: 134,899,905 (GRCm39) A149V probably benign Het
Usp24 A G 4: 106,217,618 (GRCm39) N447S possibly damaging Het
Usp42 T C 5: 143,700,381 (GRCm39) D1214G probably damaging Het
Vmn2r73 T C 7: 85,507,086 (GRCm39) Y742C probably damaging Het
Wdfy4 A T 14: 32,817,962 (GRCm39) S1473T possibly damaging Het
Zan C A 5: 137,413,280 (GRCm39) probably benign Het
Zc3h11a G A 1: 133,549,892 (GRCm39) P695S probably benign Het
Zfyve9 A C 4: 108,575,698 (GRCm39) V461G possibly damaging Het
Zp3r A G 1: 130,524,551 (GRCm39) L164P probably benign Het
Zp3r C A 1: 130,547,151 (GRCm39) E8D possibly damaging Het
Other mutations in Crb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Crb1 APN 1 139,250,983 (GRCm39) missense probably benign 0.16
IGL01591:Crb1 APN 1 139,165,077 (GRCm39) missense probably damaging 1.00
IGL01644:Crb1 APN 1 139,165,368 (GRCm39) nonsense probably null
IGL01769:Crb1 APN 1 139,264,806 (GRCm39) missense probably damaging 1.00
IGL02172:Crb1 APN 1 139,164,965 (GRCm39) missense probably damaging 1.00
IGL02294:Crb1 APN 1 139,162,520 (GRCm39) missense possibly damaging 0.89
IGL02382:Crb1 APN 1 139,165,352 (GRCm39) missense probably damaging 0.99
IGL02411:Crb1 APN 1 139,176,213 (GRCm39) missense probably damaging 1.00
IGL03070:Crb1 APN 1 139,168,996 (GRCm39) missense possibly damaging 0.79
IGL02984:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
IGL02988:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
IGL02991:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
IGL02991:Crb1 UTSW 1 139,164,822 (GRCm39) frame shift probably null
IGL03014:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
IGL03050:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
IGL03054:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
IGL03055:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
IGL03097:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
IGL03098:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
IGL03134:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
IGL03138:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
IGL03147:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
P0017:Crb1 UTSW 1 139,176,678 (GRCm39) missense possibly damaging 0.64
R0276:Crb1 UTSW 1 139,251,073 (GRCm39) missense possibly damaging 0.85
R0325:Crb1 UTSW 1 139,168,904 (GRCm39) missense probably damaging 1.00
R0401:Crb1 UTSW 1 139,126,529 (GRCm39) splice site probably benign
R0479:Crb1 UTSW 1 139,126,352 (GRCm39) missense probably damaging 0.98
R0734:Crb1 UTSW 1 139,264,822 (GRCm39) missense probably benign 0.25
R1573:Crb1 UTSW 1 139,265,344 (GRCm39) missense probably damaging 1.00
R1728:Crb1 UTSW 1 139,168,876 (GRCm39) missense probably damaging 1.00
R1728:Crb1 UTSW 1 139,170,733 (GRCm39) missense probably damaging 1.00
R1728:Crb1 UTSW 1 139,171,155 (GRCm39) missense probably benign 0.00
R1728:Crb1 UTSW 1 139,162,517 (GRCm39) missense probably benign
R1728:Crb1 UTSW 1 139,165,360 (GRCm39) missense probably benign 0.00
R1729:Crb1 UTSW 1 139,168,876 (GRCm39) missense probably damaging 1.00
R1729:Crb1 UTSW 1 139,171,155 (GRCm39) missense probably benign 0.00
R1729:Crb1 UTSW 1 139,162,517 (GRCm39) missense probably benign
R1729:Crb1 UTSW 1 139,165,360 (GRCm39) missense probably benign 0.00
R1730:Crb1 UTSW 1 139,168,876 (GRCm39) missense probably damaging 1.00
R1730:Crb1 UTSW 1 139,170,733 (GRCm39) missense probably damaging 1.00
R1730:Crb1 UTSW 1 139,171,155 (GRCm39) missense probably benign 0.00
R1730:Crb1 UTSW 1 139,162,517 (GRCm39) missense probably benign
R1730:Crb1 UTSW 1 139,165,360 (GRCm39) missense probably benign 0.00
R1739:Crb1 UTSW 1 139,165,360 (GRCm39) missense probably benign 0.00
R1739:Crb1 UTSW 1 139,168,876 (GRCm39) missense probably damaging 1.00
R1739:Crb1 UTSW 1 139,170,733 (GRCm39) missense probably damaging 1.00
R1739:Crb1 UTSW 1 139,171,155 (GRCm39) missense probably benign 0.00
R1739:Crb1 UTSW 1 139,162,517 (GRCm39) missense probably benign
R1762:Crb1 UTSW 1 139,165,360 (GRCm39) missense probably benign 0.00
R1762:Crb1 UTSW 1 139,168,876 (GRCm39) missense probably damaging 1.00
R1762:Crb1 UTSW 1 139,170,733 (GRCm39) missense probably damaging 1.00
R1762:Crb1 UTSW 1 139,171,155 (GRCm39) missense probably benign 0.00
R1762:Crb1 UTSW 1 139,162,517 (GRCm39) missense probably benign
R1762:Crb1 UTSW 1 139,165,269 (GRCm39) missense probably damaging 1.00
R1783:Crb1 UTSW 1 139,170,733 (GRCm39) missense probably damaging 1.00
R1783:Crb1 UTSW 1 139,171,155 (GRCm39) missense probably benign 0.00
R1783:Crb1 UTSW 1 139,162,517 (GRCm39) missense probably benign
R1783:Crb1 UTSW 1 139,165,360 (GRCm39) missense probably benign 0.00
R1783:Crb1 UTSW 1 139,168,876 (GRCm39) missense probably damaging 1.00
R1784:Crb1 UTSW 1 139,170,733 (GRCm39) missense probably damaging 1.00
R1784:Crb1 UTSW 1 139,171,155 (GRCm39) missense probably benign 0.00
R1784:Crb1 UTSW 1 139,162,517 (GRCm39) missense probably benign
R1784:Crb1 UTSW 1 139,165,360 (GRCm39) missense probably benign 0.00
R1784:Crb1 UTSW 1 139,168,876 (GRCm39) missense probably damaging 1.00
R1785:Crb1 UTSW 1 139,170,733 (GRCm39) missense probably damaging 1.00
R1785:Crb1 UTSW 1 139,171,155 (GRCm39) missense probably benign 0.00
R1785:Crb1 UTSW 1 139,162,517 (GRCm39) missense probably benign
R1785:Crb1 UTSW 1 139,165,360 (GRCm39) missense probably benign 0.00
R1785:Crb1 UTSW 1 139,168,876 (GRCm39) missense probably damaging 1.00
R1848:Crb1 UTSW 1 139,164,750 (GRCm39) missense probably damaging 0.97
R1894:Crb1 UTSW 1 139,170,931 (GRCm39) missense probably benign 0.02
R2057:Crb1 UTSW 1 139,242,488 (GRCm39) missense probably damaging 1.00
R2136:Crb1 UTSW 1 139,265,163 (GRCm39) missense probably benign 0.03
R2140:Crb1 UTSW 1 139,164,750 (GRCm39) missense probably benign 0.01
R2363:Crb1 UTSW 1 139,265,016 (GRCm39) missense possibly damaging 0.89
R3605:Crb1 UTSW 1 139,165,077 (GRCm39) missense probably damaging 1.00
R3817:Crb1 UTSW 1 139,175,835 (GRCm39) missense probably benign
R3942:Crb1 UTSW 1 139,265,211 (GRCm39) missense possibly damaging 0.49
R4272:Crb1 UTSW 1 139,251,049 (GRCm39) missense probably benign 0.04
R4301:Crb1 UTSW 1 139,176,568 (GRCm39) missense probably benign 0.01
R4403:Crb1 UTSW 1 139,176,117 (GRCm39) missense probably benign 0.00
R4700:Crb1 UTSW 1 139,126,509 (GRCm39) missense probably damaging 0.96
R4771:Crb1 UTSW 1 139,255,942 (GRCm39) missense probably damaging 1.00
R4845:Crb1 UTSW 1 139,170,772 (GRCm39) missense probably benign 0.06
R4867:Crb1 UTSW 1 139,170,752 (GRCm39) missense probably damaging 1.00
R5159:Crb1 UTSW 1 139,170,756 (GRCm39) missense probably damaging 0.99
R5270:Crb1 UTSW 1 139,164,602 (GRCm39) missense probably damaging 0.97
R5347:Crb1 UTSW 1 139,265,109 (GRCm39) missense probably damaging 1.00
R5513:Crb1 UTSW 1 139,164,559 (GRCm39) critical splice donor site probably null
R5641:Crb1 UTSW 1 139,176,627 (GRCm39) missense probably damaging 0.99
R5754:Crb1 UTSW 1 139,159,337 (GRCm39) missense probably damaging 1.00
R5968:Crb1 UTSW 1 139,170,739 (GRCm39) missense probably damaging 1.00
R6122:Crb1 UTSW 1 139,176,686 (GRCm39) nonsense probably null
R6369:Crb1 UTSW 1 139,165,200 (GRCm39) missense probably damaging 1.00
R6809:Crb1 UTSW 1 139,170,864 (GRCm39) missense probably benign 0.00
R7020:Crb1 UTSW 1 139,159,341 (GRCm39) missense possibly damaging 0.85
R7072:Crb1 UTSW 1 139,165,013 (GRCm39) missense probably damaging 1.00
R7073:Crb1 UTSW 1 139,176,049 (GRCm39) missense probably damaging 0.99
R7135:Crb1 UTSW 1 139,171,105 (GRCm39) missense probably damaging 0.97
R7493:Crb1 UTSW 1 139,164,768 (GRCm39) missense probably damaging 1.00
R7539:Crb1 UTSW 1 139,175,967 (GRCm39) missense probably damaging 1.00
R7554:Crb1 UTSW 1 139,265,019 (GRCm39) missense probably damaging 1.00
R7593:Crb1 UTSW 1 139,164,978 (GRCm39) missense probably damaging 1.00
R7740:Crb1 UTSW 1 139,165,428 (GRCm39) missense probably benign 0.01
R7912:Crb1 UTSW 1 139,170,909 (GRCm39) missense probably damaging 1.00
R8036:Crb1 UTSW 1 139,165,122 (GRCm39) missense probably benign 0.07
R8042:Crb1 UTSW 1 139,242,392 (GRCm39) missense probably damaging 0.99
R8329:Crb1 UTSW 1 139,165,005 (GRCm39) missense probably damaging 1.00
R8332:Crb1 UTSW 1 139,165,152 (GRCm39) missense probably damaging 0.96
R8880:Crb1 UTSW 1 139,164,886 (GRCm39) missense probably benign 0.19
R8894:Crb1 UTSW 1 139,175,750 (GRCm39) missense possibly damaging 0.95
R9052:Crb1 UTSW 1 139,171,161 (GRCm39) missense possibly damaging 0.50
R9138:Crb1 UTSW 1 139,162,468 (GRCm39) missense
R9209:Crb1 UTSW 1 139,171,051 (GRCm39) missense probably damaging 0.98
R9567:Crb1 UTSW 1 139,171,208 (GRCm39) missense probably benign 0.04
X0066:Crb1 UTSW 1 139,175,983 (GRCm39) missense probably benign 0.10
Z1176:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
Z1177:Crb1 UTSW 1 139,264,766 (GRCm39) critical splice donor site probably null
Z1177:Crb1 UTSW 1 139,176,639 (GRCm39) missense possibly damaging 0.80
Z1177:Crb1 UTSW 1 139,164,824 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TTCCATGACTGGTAGGGCATCAGC -3'
(R):5'- TGGTGGCTTACCTGACAGAGAGAAG -3'

Sequencing Primer
(F):5'- ctggaatccctgcccac -3'
(R):5'- GAAGACTGAAGTTTATGGTGGC -3'
Posted On 2014-05-23