Incidental Mutation 'IGL02984:Crb1'
ID 453254
Institutional Source Beutler Lab
Gene Symbol Crb1
Ensembl Gene ENSMUSG00000063681
Gene Name crumbs family member 1, photoreceptor morphogenesis associated
Synonyms A930008G09Rik, 7530426H14Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # IGL02984 (G1)
Quality Score 214
Status Not validated
Chromosome 1
Chromosomal Location 139124794-139304838 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CG to C at 139164824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059825] [ENSMUST00000198445]
AlphaFold Q8VHS2
Predicted Effect probably null
Transcript: ENSMUST00000059825
SMART Domains Protein: ENSMUSP00000060769
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
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 null
Transcript: ENSMUST00000198445
SMART Domains Protein: ENSMUSP00000142552
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 303 333 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: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (43/43)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,662 (GRCm39) I473N probably damaging Het
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
A530064D06Rik T C 17: 48,470,448 (GRCm39) I178V probably benign Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Aldh1l2 G A 10: 83,363,199 (GRCm39) P55S probably damaging Het
Bglap3 T C 3: 88,276,098 (GRCm39) T85A possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Csrnp3 A G 2: 65,852,553 (GRCm39) D315G probably benign Het
Dclk3 T C 9: 111,317,643 (GRCm39) Y760H probably damaging Het
Eef1akmt2 A G 7: 132,438,935 (GRCm39) *52R probably null Het
Epc2 A G 2: 49,418,866 (GRCm39) K225E probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Foxi2 C T 7: 135,012,127 (GRCm39) T5M possibly damaging Het
Frmd4b T A 6: 97,273,221 (GRCm39) T670S probably damaging Het
Gm14137 G T 2: 119,005,961 (GRCm39) E173D probably damaging Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
Mfsd4b3-ps G A 10: 39,823,184 (GRCm39) probably benign Het
Mlst8 A G 17: 24,695,127 (GRCm39) F252S probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mogs A G 6: 83,094,296 (GRCm39) K371R probably benign Het
Nsun2 T C 13: 69,691,727 (GRCm39) probably benign Het
Otog T A 7: 45,954,932 (GRCm39) C2702S probably damaging Het
Plekhg4 A G 8: 106,107,020 (GRCm39) E905G probably damaging Het
Rtn4rl1 T C 11: 75,156,087 (GRCm39) V173A probably benign Het
Sall3 T C 18: 81,016,665 (GRCm39) E421G probably benign Het
Setd6 G A 8: 96,442,903 (GRCm39) probably null Het
Sh3tc1 T C 5: 35,871,403 (GRCm39) probably null Het
Slc35f5 T A 1: 125,490,250 (GRCm39) Y71N probably benign Het
Snx1 A G 9: 65,996,390 (GRCm39) probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sspo T C 6: 48,472,089 (GRCm39) V792A probably benign Het
Sufu C A 19: 46,462,038 (GRCm39) D350E probably benign Het
Trav18 C A 14: 54,069,026 (GRCm39) Q23K probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Usp17le T A 7: 104,418,311 (GRCm39) H277L probably benign Het
Wdsub1 A G 2: 59,707,173 (GRCm39) S20P 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
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
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
Posted On 2017-02-01