Incidental Mutation 'R6369:Crb1'
ID 512832
Institutional Source Beutler Lab
Gene Symbol Crb1
Ensembl Gene ENSMUSG00000063681
Gene Name crumbs family member 1, photoreceptor morphogenesis associated
Synonyms A930008G09Rik, 7530426H14Rik
MMRRC Submission 044519-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R6369 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 139124794-139304838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 139165200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 975 (V975M)
Ref Sequence ENSEMBL: ENSMUSP00000142552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059825] [ENSMUST00000198445]
AlphaFold Q8VHS2
Predicted Effect probably damaging
Transcript: ENSMUST00000059825
AA Change: V1036M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060769
Gene: ENSMUSG00000063681
AA Change: V1036M

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: V975M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142552
Gene: ENSMUSG00000063681
AA Change: V975M

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn C T 17: 14,055,605 (GRCm39) R571* probably null Het
Asb18 A T 1: 89,942,193 (GRCm39) I36N probably damaging Het
Ascc3 G A 10: 50,576,081 (GRCm39) G779S probably damaging Het
Atl2 T C 17: 80,161,984 (GRCm39) Q205R probably damaging Het
Axdnd1 A G 1: 156,220,315 (GRCm39) I235T probably damaging Het
Bri3bp A G 5: 125,531,765 (GRCm39) N237S probably damaging Het
Ccdc191 A G 16: 43,735,848 (GRCm39) N256S probably benign Het
Cchcr1 T C 17: 35,839,073 (GRCm39) I474T probably damaging Het
Cd209c T C 8: 3,994,984 (GRCm39) Y60C probably damaging Het
Cd300c C A 11: 114,848,381 (GRCm39) D171Y probably damaging Het
Csmd1 C T 8: 17,585,020 (GRCm39) probably benign Het
Ctnna2 A G 6: 76,957,678 (GRCm39) S524P possibly damaging Het
Eno1 T C 4: 150,324,025 (GRCm39) probably null Het
Ero1a T C 14: 45,537,415 (GRCm39) I170M probably damaging Het
Fam186a A G 15: 99,845,212 (GRCm39) M344T unknown Het
Frem1 A T 4: 82,832,029 (GRCm39) probably null Het
Gjb5 G T 4: 127,249,723 (GRCm39) D140E possibly damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Hk2 G T 6: 82,713,734 (GRCm39) S449R probably damaging Het
Hs3st3a1 A T 11: 64,411,427 (GRCm39) I322F probably benign Het
Itga1 T C 13: 115,102,196 (GRCm39) I1145V probably damaging Het
Kcp A G 6: 29,484,693 (GRCm39) L1295S probably damaging Het
Macf1 T C 4: 123,304,355 (GRCm39) D49G possibly damaging Het
Mef2b T A 8: 70,618,209 (GRCm39) D96E probably benign Het
Megf10 A T 18: 57,394,259 (GRCm39) D461V probably benign Het
Myom1 T C 17: 71,408,071 (GRCm39) S1104P probably damaging Het
Nab1 A G 1: 52,529,381 (GRCm39) L172P probably damaging Het
Or2g1 T G 17: 38,106,387 (GRCm39) D17E probably benign Het
Pate1 A G 9: 35,598,324 (GRCm39) V18A probably benign Het
Pink1 T C 4: 138,048,045 (GRCm39) probably null Het
Pnpla1 T A 17: 29,097,455 (GRCm39) I207N probably damaging Het
Ppp1r12b T C 1: 134,814,280 (GRCm39) E341G possibly damaging Het
Ppp1r21 C A 17: 88,889,840 (GRCm39) probably null Het
Rad52 A G 6: 119,891,168 (GRCm39) E76G unknown Het
Rad54l A G 4: 115,968,386 (GRCm39) probably null Het
Rasgrf2 T C 13: 92,267,954 (GRCm39) M17V probably benign Het
Rbm42 A G 7: 30,340,738 (GRCm39) M411T unknown Het
Reln A G 5: 22,256,359 (GRCm39) I495T probably benign Het
Rnf224 A G 2: 25,125,954 (GRCm39) F133S probably damaging Het
Rrm1 C A 7: 102,095,909 (GRCm39) H87Q probably damaging Het
Sec14l2 T C 11: 4,053,962 (GRCm39) D235G possibly damaging Het
Serpinb3d G T 1: 107,008,483 (GRCm39) N127K probably benign Het
Skint7 A T 4: 111,837,490 (GRCm39) E89D probably benign Het
Slc22a5 T G 11: 53,782,196 (GRCm39) N57T probably damaging Het
Smarcd3 A T 5: 24,799,982 (GRCm39) F263I probably damaging Het
Sncaip A G 18: 53,001,676 (GRCm39) I66V probably damaging Het
Syngr1 A C 15: 79,999,791 (GRCm39) probably benign Het
Tbc1d2 A G 4: 46,614,420 (GRCm39) Y554H probably benign Het
Tmem198 T C 1: 75,456,387 (GRCm39) V44A probably benign Het
Trappc11 T C 8: 47,965,320 (GRCm39) probably null Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vmn2r111 C T 17: 22,767,583 (GRCm39) C638Y probably damaging Het
Washc4 A G 10: 83,410,308 (GRCm39) Y632C probably damaging Het
Zfp212 T C 6: 47,907,831 (GRCm39) V270A probably benign Het
Zfp92 G A X: 72,465,574 (GRCm39) R189H possibly damaging Homo
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
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'- TGCAGGCCTTTCGGATTGTC -3'
(R):5'- AGAAATACTCTTCAGAAGCAATGGG -3'

Sequencing Primer
(F):5'- GGATTGTCAACAGATTGGTCACCC -3'
(R):5'- TGGGAACATTACCAGAGAACTC -3'
Posted On 2018-04-27