Incidental Mutation 'R0479:Crb1'
ID 43232
Institutional Source Beutler Lab
Gene Symbol Crb1
Ensembl Gene ENSMUSG00000063681
Gene Name crumbs family member 1, photoreceptor morphogenesis associated
Synonyms A930008G09Rik, 7530426H14Rik
MMRRC Submission 038679-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R0479 (G1)
Quality Score 165
Status Validated (trace)
Chromosome 1
Chromosomal Location 139124794-139304838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 139126352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1392 (M1392I)
Ref Sequence ENSEMBL: ENSMUSP00000060769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059825]
AlphaFold Q8VHS2
Predicted Effect probably damaging
Transcript: ENSMUST00000059825
AA Change: M1392I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060769
Gene: ENSMUSG00000063681
AA Change: M1392I

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 noncoding transcript
Transcript: ENSMUST00000199479
Meta Mutation Damage Score 0.1110 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 98% (105/107)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 A G 1: 173,159,712 (GRCm39) V269A probably benign Het
Acsl1 G A 8: 46,984,109 (GRCm39) G543R probably damaging Het
Adam18 T C 8: 25,141,838 (GRCm39) N244D probably benign Het
Adgra3 C T 5: 50,147,607 (GRCm39) V478M probably benign Het
Arhgap39 C T 15: 76,619,086 (GRCm39) D833N probably damaging Het
Arhgef10 A T 8: 15,041,070 (GRCm39) E723V probably damaging Het
Arid3a C A 10: 79,787,128 (GRCm39) N519K possibly damaging Het
Atrn T A 2: 130,841,085 (GRCm39) Y1162* probably null Het
Cacng5 T A 11: 107,768,777 (GRCm39) N172Y probably benign Het
Cct8 C T 16: 87,284,594 (GRCm39) V198M probably damaging Het
Cep192 G A 18: 67,991,089 (GRCm39) S1857N probably damaging Het
Cherp A T 8: 73,216,991 (GRCm39) D657E possibly damaging Het
Clca3a2 T G 3: 144,796,610 (GRCm39) D199A probably damaging Het
Cops7b A G 1: 86,532,798 (GRCm39) T219A probably benign Het
Csf3r A C 4: 125,937,616 (GRCm39) E833D probably damaging Het
Cutc A G 19: 43,756,655 (GRCm39) E247G probably damaging Het
Cyp2c38 A G 19: 39,451,449 (GRCm39) L17P probably damaging Het
D5Ertd615e T A 5: 45,320,796 (GRCm39) noncoding transcript Het
Ddx60 G T 8: 62,422,691 (GRCm39) G643W probably damaging Het
Depdc1a C T 3: 159,226,497 (GRCm39) T268I probably damaging Het
Dgke T C 11: 88,943,296 (GRCm39) E231G probably benign Het
Dhrs7b T A 11: 60,746,513 (GRCm39) probably benign Het
Dll3 A G 7: 28,000,974 (GRCm39) V27A probably damaging Het
Dnmt3c T A 2: 153,556,861 (GRCm39) probably null Het
Duox1 T C 2: 122,176,861 (GRCm39) F1461L probably damaging Het
Enpep A G 3: 129,106,323 (GRCm39) V301A possibly damaging Het
Eny2 T A 15: 44,299,000 (GRCm39) probably null Het
Esr1 A G 10: 4,947,911 (GRCm39) D488G probably damaging Het
Ets1 A G 9: 32,641,476 (GRCm39) K110E probably damaging Het
Eya2 T A 2: 165,557,876 (GRCm39) Y157* probably null Het
F830045P16Rik T G 2: 129,314,608 (GRCm39) D223A possibly damaging Het
Fbh1 A G 2: 11,763,230 (GRCm39) Y475H probably damaging Het
Fbxo39 T C 11: 72,208,419 (GRCm39) I257T probably damaging Het
Fkbp10 T C 11: 100,306,740 (GRCm39) V23A probably damaging Het
Foxp3 A G X: 7,453,583 (GRCm39) I128V possibly damaging Het
Fzd7 T C 1: 59,522,867 (GRCm39) F250S probably damaging Het
Gaa A G 11: 119,172,062 (GRCm39) T722A possibly damaging Het
Gemin5 A G 11: 58,030,377 (GRCm39) V816A probably benign Het
Glb1l3 T A 9: 26,740,389 (GRCm39) T314S probably benign Het
H2-Ab1 A G 17: 34,483,942 (GRCm39) E101G possibly damaging Het
Hydin A C 8: 111,325,720 (GRCm39) T4710P probably damaging Het
Ica1 C T 6: 8,754,627 (GRCm39) V48M probably damaging Het
Ica1 T C 6: 8,754,683 (GRCm39) Y29C probably damaging Het
Ints7 T A 1: 191,346,666 (GRCm39) probably null Het
Iqub T C 6: 24,505,809 (GRCm39) E33G probably benign Het
Itgb1bp2 T A X: 100,492,806 (GRCm39) C10S probably damaging Het
Katnip T C 7: 125,442,518 (GRCm39) L809S probably benign Het
Kcnd1 T A X: 7,697,461 (GRCm39) I391N possibly damaging Het
Kdm8 T C 7: 125,051,812 (GRCm39) L135P probably damaging Het
Ksr1 T C 11: 78,916,109 (GRCm39) D574G probably damaging Het
Lama5 C T 2: 179,826,250 (GRCm39) R2331H probably benign Het
Larp1 C A 11: 57,933,646 (GRCm39) N357K possibly damaging Het
Lgi3 C T 14: 70,771,992 (GRCm39) probably benign Het
Lmbrd1 T A 1: 24,785,878 (GRCm39) probably benign Het
Methig1 A T 15: 100,272,825 (GRCm39) K53* probably null Het
Mfap3 T A 11: 57,420,469 (GRCm39) I150N probably damaging Het
Mug1 A T 6: 121,817,186 (GRCm39) Q85L probably benign Het
Npl A G 1: 153,391,155 (GRCm39) V200A probably damaging Het
Nuf2 A T 1: 169,326,503 (GRCm39) probably benign Het
Obscn A G 11: 59,003,533 (GRCm39) V1255A probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5h18 C T 16: 58,847,491 (GRCm39) V260M possibly damaging Het
Or8b51 T C 9: 38,569,478 (GRCm39) D70G probably damaging Het
P2rx1 T C 11: 72,903,787 (GRCm39) V283A probably damaging Het
Pex2 C A 3: 5,626,355 (GRCm39) L151F probably damaging Het
Pias1 A G 9: 62,800,400 (GRCm39) probably benign Het
Pmfbp1 A T 8: 110,257,105 (GRCm39) probably benign Het
Pogz A G 3: 94,783,947 (GRCm39) K545E possibly damaging Het
Ppp3cb T C 14: 20,553,309 (GRCm39) probably null Het
Prl G A 13: 27,248,911 (GRCm39) D189N probably damaging Het
Prpf6 A G 2: 181,292,920 (GRCm39) N794S probably benign Het
Prr36 G A 8: 4,263,930 (GRCm39) Q579* probably null Het
Ptprq A T 10: 107,479,855 (GRCm39) Y1138* probably null Het
Rabepk A T 2: 34,675,592 (GRCm39) H179Q probably damaging Het
Rest T C 5: 77,430,598 (GRCm39) S1006P probably damaging Het
Rimklb A C 6: 122,441,175 (GRCm39) probably benign Het
Rnpepl1 T C 1: 92,846,587 (GRCm39) probably benign Het
Ro60 A T 1: 143,633,489 (GRCm39) D536E possibly damaging Het
Sacs T A 14: 61,428,928 (GRCm39) L329Q probably damaging Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Setd5 A T 6: 113,091,994 (GRCm39) I272F probably damaging Het
Sgk1 G T 10: 21,872,209 (GRCm39) A262S probably benign Het
Skint2 G A 4: 112,481,238 (GRCm39) V34I possibly damaging Het
Skint5 G C 4: 113,512,869 (GRCm39) Q888E unknown Het
Slc4a3 T C 1: 75,528,472 (GRCm39) probably benign Het
Sox10 T C 15: 79,047,519 (GRCm39) E133G probably damaging Het
Spryd3 G A 15: 102,038,835 (GRCm39) R129* probably null Het
Stag1 T A 9: 100,810,144 (GRCm39) N782K probably benign Het
Stam T C 2: 14,122,306 (GRCm39) L132P probably damaging Het
Stard9 T A 2: 120,528,077 (GRCm39) S1445T probably damaging Het
Syt5 C T 7: 4,546,108 (GRCm39) R94Q probably benign Het
Tbc1d23 A T 16: 56,992,177 (GRCm39) H594Q probably damaging Het
Tecta T A 9: 42,249,235 (GRCm39) I1871F probably damaging Het
Tek A G 4: 94,692,549 (GRCm39) D219G probably benign Het
Thrb T C 14: 18,033,643 (GRCm38) F469L probably damaging Het
Tyr T C 7: 87,142,429 (GRCm39) S44G possibly damaging Het
Usp20 T A 2: 30,907,487 (GRCm39) V673E probably benign Het
Usp28 T C 9: 48,948,513 (GRCm39) S873P probably damaging Het
Usp43 C T 11: 67,788,100 (GRCm39) V306M possibly damaging Het
Wdr17 G T 8: 55,104,456 (GRCm39) probably null Het
Wsb2 T G 5: 117,514,744 (GRCm39) probably benign Het
Xkrx A T X: 133,051,715 (GRCm39) L312Q probably 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
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 1 139,170,733 (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'- ATTCTGAGGCTGACAGGCAAACAC -3'
(R):5'- ATGACAGGCTCCTGGGCATTTTCAC -3'

Sequencing Primer
(F):5'- ACAGGGACACTCTTCTGTGAATG -3'
(R):5'- GGGCATTTTCACCGCTG -3'
Posted On 2013-05-23