Incidental Mutation 'R7493:Crb1'
ID 580892
Institutional Source Beutler Lab
Gene Symbol Crb1
Ensembl Gene ENSMUSG00000063681
Gene Name crumbs family member 1, photoreceptor morphogenesis associated
Synonyms A930008G09Rik, 7530426H14Rik
MMRRC Submission 045567-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R7493 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 139124794-139304838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139164768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1180 (C1180S)
Ref Sequence ENSEMBL: ENSMUSP00000060769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059825] [ENSMUST00000198445]
AlphaFold Q8VHS2
Predicted Effect probably damaging
Transcript: ENSMUST00000059825
AA Change: C1180S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060769
Gene: ENSMUSG00000063681
AA Change: C1180S

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 damaging
Transcript: ENSMUST00000198445
AA Change: C1119S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142552
Gene: ENSMUSG00000063681
AA Change: C1119S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (74/76)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,257 (GRCm39) L236P possibly damaging Het
Abca7 T A 10: 79,837,896 (GRCm39) D488E probably damaging Het
Adora2a A G 10: 75,169,423 (GRCm39) K296E possibly damaging Het
Aopep A G 13: 63,163,345 (GRCm39) D122G probably benign Het
Atp13a4 T A 16: 29,290,774 (GRCm39) E225V Het
Bpifb2 A G 2: 153,731,397 (GRCm39) M258V possibly damaging Het
Brd2 G A 17: 34,341,231 (GRCm39) probably benign Het
Btaf1 G T 19: 36,987,005 (GRCm39) V1700F probably damaging Het
C2cd3 A G 7: 100,076,433 (GRCm39) I797V Het
Ccdc148 T G 2: 58,899,160 (GRCm39) E71A probably damaging Het
Ccdc18 T A 5: 108,354,483 (GRCm39) L1074* probably null Het
Ccne2 A G 4: 11,198,772 (GRCm39) D215G probably damaging Het
Cers6 T A 2: 68,692,151 (GRCm39) probably null Het
Copz1 A G 15: 103,204,971 (GRCm39) E110G probably damaging Het
Cped1 A T 6: 22,215,512 (GRCm39) D682V probably damaging Het
Cyren A T 6: 34,851,593 (GRCm39) L114Q probably damaging Het
Echdc3 A T 2: 6,194,368 (GRCm39) L229Q probably damaging Het
Etfb C T 7: 43,104,000 (GRCm39) P145L probably damaging Het
Exoc3l2 G T 7: 19,203,813 (GRCm39) R135L Het
Fam83a G A 15: 57,849,569 (GRCm39) A38T probably damaging Het
G6pc2 T C 2: 69,053,344 (GRCm39) Y133H probably benign Het
Gfy T C 7: 44,827,518 (GRCm39) I193V probably benign Het
Ggnbp2 T C 11: 84,744,899 (GRCm39) T208A probably benign Het
Gigyf1 T A 5: 137,523,795 (GRCm39) M1019K probably damaging Het
Gm45783 T C 7: 7,373,599 (GRCm39) D61G probably damaging Het
Golga5 T C 12: 102,450,835 (GRCm39) probably null Het
Ighe A G 12: 113,235,023 (GRCm39) V379A Het
Itpr3 C A 17: 27,313,774 (GRCm39) H573Q probably benign Het
Klhl2 A G 8: 65,202,809 (GRCm39) L463P probably damaging Het
Large1 T G 8: 73,550,343 (GRCm39) M619L probably benign Het
Limd1 T A 9: 123,308,748 (GRCm39) V149E probably benign Het
Lyz2 T C 10: 117,118,144 (GRCm39) K2E probably damaging Het
Man2c1 T A 9: 57,048,412 (GRCm39) S858T probably damaging Het
Nt5dc1 A T 10: 34,180,932 (GRCm39) N439K probably benign Het
Or4a2 A G 2: 89,248,145 (GRCm39) I204T probably benign Het
Or4n4b G A 14: 50,536,281 (GRCm39) L162F probably benign Het
Or4p7 T C 2: 88,222,224 (GRCm39) V211A possibly damaging Het
Or51f1 A T 7: 102,506,278 (GRCm39) Y70* probably null Het
Or5d43 T C 2: 88,105,445 (GRCm39) probably benign Het
Or7g27 A C 9: 19,250,109 (GRCm39) M118L probably damaging Het
Otogl T C 10: 107,722,843 (GRCm39) N296S probably benign Het
Patj A G 4: 98,383,298 (GRCm39) N789D probably benign Het
Pcsk6 A G 7: 65,693,314 (GRCm39) D851G possibly damaging Het
Peg3 T C 7: 6,712,723 (GRCm39) H833R probably damaging Het
Pira1 T C 7: 3,742,023 (GRCm39) E119G not run Het
Plekha5 A G 6: 140,526,161 (GRCm39) D933G probably benign Het
Pnma1 G A 12: 84,193,903 (GRCm39) R267C probably damaging Het
Ppp3cb T A 14: 20,558,619 (GRCm39) H481L probably benign Het
Prl8a8 T C 13: 27,695,418 (GRCm39) probably null Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Ptpro C A 6: 137,359,647 (GRCm39) L406I probably benign Het
Rbpj T C 5: 53,758,276 (GRCm39) S18P probably benign Het
Rhbg C T 3: 88,154,886 (GRCm39) V173M probably damaging Het
Rps6kc1 A G 1: 190,532,254 (GRCm39) S583P probably benign Het
Ryr1 T C 7: 28,794,630 (GRCm39) S1217G probably benign Het
S1pr1 A T 3: 115,505,922 (GRCm39) I224N probably damaging Het
Sall1 C T 8: 89,757,681 (GRCm39) D808N probably benign Het
Shoc2 T C 19: 53,976,467 (GRCm39) V119A probably benign Het
Spata31h1 A T 10: 82,124,798 (GRCm39) Y2737* probably null Het
Spata31h1 T C 10: 82,152,264 (GRCm39) Y34C unknown Het
Ssh2 A T 11: 77,328,542 (GRCm39) E369D probably benign Het
Stx1b C T 7: 127,406,531 (GRCm39) V273M possibly damaging Het
Syne2 A G 12: 76,012,654 (GRCm39) H2615R probably benign Het
Tmc8 T C 11: 117,675,758 (GRCm39) I225T probably benign Het
Tmem126b A G 7: 90,121,854 (GRCm39) I52T probably benign Het
Top2b G A 14: 16,416,605 (GRCm38) D1122N probably benign Het
Trav13-2 T A 14: 53,872,363 (GRCm39) S7T possibly damaging Het
Ttc1 A T 11: 43,636,189 (GRCm39) L18Q probably damaging Het
Ttn A T 2: 76,567,553 (GRCm39) I27780N probably damaging Het
Ubfd1 T C 7: 121,666,635 (GRCm39) S44P probably benign Het
Vmn1r89 A G 7: 12,953,632 (GRCm39) K123E probably damaging Het
Vmn2r62 A C 7: 42,437,316 (GRCm39) F389L possibly damaging Het
Vps35l C T 7: 118,393,800 (GRCm39) probably null Het
Zdhhc11 T A 13: 74,121,726 (GRCm39) M79K possibly damaging Het
Zfp202 G T 9: 40,118,640 (GRCm39) V18F possibly damaging Het
Zfp39 A G 11: 58,781,869 (GRCm39) F298L possibly damaging Het
Znrf1 G A 8: 112,264,071 (GRCm39) G100D 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
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 1 139,170,733 (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
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'- CTCCCGGTAAAATTTCCAAAGC -3'
(R):5'- ATGGTTTCCCTGGTAAGCCTC -3'

Sequencing Primer
(F):5'- CGGTAAAATTTCCAAAGCAGAGAC -3'
(R):5'- TTTCCCTGGTAAGCCTCAGGAAG -3'
Posted On 2019-10-17