Incidental Mutation 'R4801:Crb2'
ID 472830
Institutional Source Beutler Lab
Gene Symbol Crb2
Ensembl Gene ENSMUSG00000035403
Gene Name crumbs family member 2
Synonyms
MMRRC Submission 042423-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4801 (G1)
Quality Score 195
Status Not validated
Chromosome 2
Chromosomal Location 37666261-37689115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37683768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1090 (I1090N)
Ref Sequence ENSEMBL: ENSMUSP00000058007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050372]
AlphaFold Q80YA8
Predicted Effect probably benign
Transcript: ENSMUST00000050372
AA Change: I1090N

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: I1090N

DomainStartEndE-ValueType
EGF 74 110 1.92e-7 SMART
EGF_CA 112 148 1.69e-12 SMART
EGF_CA 150 186 3.99e-14 SMART
EGF_CA 188 225 8.9e-12 SMART
EGF_CA 227 263 3.79e-6 SMART
EGF 268 322 1.32e-5 SMART
EGF_CA 324 360 5.96e-13 SMART
EGF_CA 362 398 2.54e-7 SMART
EGF 403 440 2.45e0 SMART
low complexity region 446 457 N/A INTRINSIC
LamG 461 592 1.18e-6 SMART
EGF 612 645 4.59e-5 SMART
LamG 671 778 4.45e-2 SMART
EGF 813 846 5.2e-4 SMART
LamG 893 1019 1.68e-1 SMART
EGF 1056 1089 9.55e-3 SMART
EGF 1094 1127 9.85e-5 SMART
EGF 1134 1168 1.91e1 SMART
EGF 1173 1206 3.73e-5 SMART
transmembrane domain 1222 1244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137693
Predicted Effect probably benign
Transcript: ENSMUST00000147600
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (88/89)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous inactivation of this gene causes severe gastrulation defects, impaired somitogenesis and organogenesis. and complete embryonic death by E12.5. Several organ primordia, including neuroepithelium, gut, and heart, fail to form properly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 164 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A G 10: 28,859,922 (GRCm39) probably null Het
Aadacl3 A G 4: 144,182,802 (GRCm39) I222T probably damaging Het
Abca13 G T 11: 9,472,341 (GRCm39) G4249V possibly damaging Het
Abcb10 A G 8: 124,693,266 (GRCm39) V346A probably benign Het
Abcc2 A T 19: 43,807,800 (GRCm39) I814F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd28 A C 14: 31,458,787 (GRCm39) D335E probably damaging Het
Ankrd44 T C 1: 54,801,475 (GRCm39) H284R probably damaging Het
Arfgef3 G T 10: 18,467,654 (GRCm39) Q1849K probably benign Het
Atp2c2 T C 8: 120,474,426 (GRCm39) M490T probably damaging Het
Bach1 T A 16: 87,519,340 (GRCm39) D543E probably damaging Het
Bahcc1 G A 11: 120,173,051 (GRCm39) V1558I probably benign Het
Bbs5 T A 2: 69,485,958 (GRCm39) W168R probably damaging Het
Bcar3 A T 3: 122,323,243 (GRCm39) D766V probably benign Het
C1ra A G 6: 124,490,727 (GRCm39) D40G probably benign Het
Ccdc138 G A 10: 58,409,465 (GRCm39) C598Y probably damaging Het
Cd200r3 T A 16: 44,778,188 (GRCm39) N197K possibly damaging Het
Cenpf T A 1: 189,383,417 (GRCm39) E2634D probably damaging Het
Cisd2 T C 3: 135,116,902 (GRCm39) K63R probably damaging Het
Clca3a2 A T 3: 144,513,112 (GRCm39) S478T possibly damaging Het
Clptm1l T C 13: 73,755,981 (GRCm39) M199T possibly damaging Het
Cntnap4 T A 8: 113,500,222 (GRCm39) S505T possibly damaging Het
Cr2 C T 1: 194,845,619 (GRCm39) G112D probably damaging Het
Csmd3 G T 15: 47,484,688 (GRCm39) P3057Q probably damaging Het
Ctso G A 3: 81,861,547 (GRCm39) V307I probably damaging Het
Cyp3a41b T A 5: 145,510,461 (GRCm39) T138S probably benign Het
Dctn3 G T 4: 41,719,904 (GRCm39) Y67* probably null Het
Dennd4c C A 4: 86,738,121 (GRCm39) Y918* probably null Het
Dlg5 C T 14: 24,204,757 (GRCm39) G1262D probably damaging Het
Dnaaf1 G A 8: 120,304,100 (GRCm39) G46D probably benign Het
Dnah6 A G 6: 73,066,681 (GRCm39) V2563A probably damaging Het
Dnajc13 A G 9: 104,052,926 (GRCm39) Y1679H probably benign Het
Eif2ak3 T C 6: 70,864,877 (GRCm39) Y578H probably benign Het
Endod1 C T 9: 14,268,319 (GRCm39) V389M probably benign Het
Ephb4 T C 5: 137,363,768 (GRCm39) L582P probably damaging Het
Eps15 T C 4: 109,181,414 (GRCm39) L316S possibly damaging Het
Erbb4 G T 1: 68,369,405 (GRCm39) T412K probably damaging Het
Fam117a T A 11: 95,254,896 (GRCm39) F90I probably damaging Het
Fam187b T G 7: 30,676,515 (GRCm39) V8G possibly damaging Het
Far1 T A 7: 113,138,660 (GRCm39) I59N possibly damaging Het
Fbxo34 T A 14: 47,768,326 (GRCm39) L562Q probably damaging Het
Frem1 T A 4: 82,834,865 (GRCm39) probably benign Het
Gfra3 G T 18: 34,853,245 (GRCm39) P10Q probably damaging Het
Gm19965 T A 1: 116,749,626 (GRCm39) Y436N probably benign Het
Gm5799 A T 14: 43,782,005 (GRCm39) H59L probably damaging Het
Gmppb T A 9: 107,927,416 (GRCm39) V121E probably benign Het
Ighv7-4 G C 12: 114,186,899 (GRCm39) probably benign Het
Ipo4 A G 14: 55,868,671 (GRCm39) S446P probably damaging Het
Itpr2 T C 6: 146,272,829 (GRCm39) T855A probably damaging Het
Jaml T C 9: 45,012,362 (GRCm39) I283T possibly damaging Het
Kcnn2 T C 18: 45,818,334 (GRCm39) probably benign Het
Klhl32 T C 4: 24,649,698 (GRCm39) Y399C possibly damaging Het
Litafd A G 16: 8,501,209 (GRCm39) T22A unknown Het
Lratd2 C A 15: 60,695,793 (GRCm39) probably benign Het
Lrriq1 G A 10: 103,057,179 (GRCm39) T207I probably benign Het
Lrriq3 A T 3: 154,893,607 (GRCm39) H436L probably benign Het
Mad2l1bp T C 17: 46,459,189 (GRCm39) K114E possibly damaging Het
Mamstr T C 7: 45,291,842 (GRCm39) V64A possibly damaging Het
Map4 T A 9: 109,864,325 (GRCm39) S517T probably benign Het
Matn1 A T 4: 130,677,336 (GRCm39) I182F possibly damaging Het
Mcm3 A G 1: 20,880,380 (GRCm39) I484T probably damaging Het
Med13 T A 11: 86,169,599 (GRCm39) I1922F probably damaging Het
Metap2 A G 10: 93,704,757 (GRCm39) V137A probably damaging Het
Mex3d A G 10: 80,222,788 (GRCm39) V156A possibly damaging Het
Mfsd6 G A 1: 52,748,755 (GRCm39) P37S probably benign Het
Mmut A G 17: 41,248,242 (GRCm39) T90A probably benign Het
Mrgprx1 A C 7: 47,670,959 (GRCm39) S263A possibly damaging Het
Mrtfa T C 15: 80,989,000 (GRCm39) E7G probably benign Het
Msantd5f6 C T 4: 73,319,504 (GRCm39) W80* probably null Het
Msl1 C T 11: 98,694,795 (GRCm39) R505* probably null Het
Mta2 T C 19: 8,923,215 (GRCm39) S96P probably damaging Het
Mtr A T 13: 12,210,137 (GRCm39) N986K probably benign Het
Mutyh C T 4: 116,674,226 (GRCm39) T259I probably benign Het
Myof T C 19: 37,934,186 (GRCm39) T908A probably benign Het
Nav2 A T 7: 49,195,600 (GRCm39) D992V possibly damaging Het
Neb T C 2: 52,090,715 (GRCm39) T1352A possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nudt6 G A 3: 37,459,503 (GRCm39) R161C probably benign Het
Olr1 A G 6: 129,465,053 (GRCm39) F141S possibly damaging Het
Oprl1 G T 2: 181,361,046 (GRCm39) M340I probably benign Het
Or10ag57 T A 2: 87,218,553 (GRCm39) V168E probably benign Het
Or10d1 T G 9: 39,484,154 (GRCm39) M134L probably benign Het
Or11g2 A G 14: 50,856,479 (GRCm39) T267A probably benign Het
Or14j1 T C 17: 38,146,240 (GRCm39) Y117H probably damaging Het
Or1e17 T A 11: 73,831,696 (GRCm39) I208K possibly damaging Het
Or2ak6 T C 11: 58,592,617 (GRCm39) V30A probably benign Het
Or2r2 A T 6: 42,463,613 (GRCm39) N171K probably benign Het
Or4f53 T A 2: 111,087,497 (GRCm39) F12L probably damaging Het
Or5d43 T A 2: 88,105,223 (GRCm39) M57L probably damaging Het
Or5g26 T A 2: 85,494,622 (GRCm39) D52V probably damaging Het
Or9s15 T A 1: 92,524,720 (GRCm39) C160S probably benign Het
Otogl A C 10: 107,737,197 (GRCm39) C72W probably damaging Het
Pcdha11 T A 18: 37,138,518 (GRCm39) I49N probably damaging Het
Pcdha4 T A 18: 37,087,008 (GRCm39) L397* probably null Het
Pcdhb14 A G 18: 37,581,331 (GRCm39) S146G probably benign Het
Pclo T A 5: 14,725,829 (GRCm39) H1562Q unknown Het
Pcsk9 T C 4: 106,304,766 (GRCm39) E434G probably benign Het
Phc2 A G 4: 128,645,391 (GRCm39) K833E probably damaging Het
Pja2 A T 17: 64,599,857 (GRCm39) S480R probably damaging Het
Pkd1 G A 17: 24,797,070 (GRCm39) G2493D probably damaging Het
Plk5 G A 10: 80,195,138 (GRCm39) V179M possibly damaging Het
Polr1a G A 6: 71,953,054 (GRCm39) V1541I probably benign Het
Ppard C G 17: 28,505,348 (GRCm39) R12G unknown Het
Ppp1r14a A G 7: 28,990,951 (GRCm39) D73G probably damaging Het
Psd3 C T 8: 68,573,800 (GRCm39) R127H probably benign Het
Pten G T 19: 32,735,903 (GRCm39) G20V possibly damaging Het
Ptprg T C 14: 11,554,233 (GRCm38) probably benign Het
Rad54l T C 4: 115,980,121 (GRCm39) D21G probably null Het
Rgs14 T C 13: 55,528,770 (GRCm39) Y304H probably damaging Het
Rgs9 T C 11: 109,131,694 (GRCm39) K346R probably damaging Het
Rnf169 C G 7: 99,575,653 (GRCm39) G314A probably damaging Het
Rpgrip1l T A 8: 91,996,805 (GRCm39) T692S probably damaging Het
Rtf1 T C 2: 119,505,709 (GRCm39) V54A possibly damaging Het
Rtn4 T C 11: 29,658,660 (GRCm39) V938A probably benign Het
Ryr2 T A 13: 11,702,818 (GRCm39) D2890V probably damaging Het
Ryr2 T C 13: 11,723,113 (GRCm39) T2509A probably damaging Het
Scel A C 14: 103,820,536 (GRCm39) T348P probably benign Het
Scgb1b2 G T 7: 30,990,998 (GRCm39) L37I possibly damaging Het
Sdf4 A G 4: 156,085,178 (GRCm39) H171R possibly damaging Het
Sec31a A G 5: 100,541,222 (GRCm39) V295A probably damaging Het
Semp2l2a T A 8: 13,886,970 (GRCm39) I374F possibly damaging Het
Setx T A 2: 29,036,385 (GRCm39) S957T probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Six5 A G 7: 18,830,894 (GRCm39) N507S probably benign Het
Slc12a7 T C 13: 73,912,011 (GRCm39) probably null Het
Slc1a7 T A 4: 107,850,237 (GRCm39) V116E probably damaging Het
Slc22a1 A G 17: 12,894,422 (GRCm39) L42P probably damaging Het
Slc25a31 A T 3: 40,675,975 (GRCm39) I174F probably damaging Het
Slc31a2 A T 4: 62,210,869 (GRCm39) M3L probably damaging Het
Slco1a4 T A 6: 141,791,223 (GRCm39) probably benign Het
Smcr8 C T 11: 60,669,436 (GRCm39) probably null Het
Smg5 G T 3: 88,262,999 (GRCm39) E801* probably null Het
Smgc C A 15: 91,738,819 (GRCm39) H492Q probably benign Het
Smyd4 G T 11: 75,294,010 (GRCm39) G694V probably damaging Het
Sorcs3 A G 19: 48,387,183 (GRCm39) T223A possibly damaging Het
Stab1 G T 14: 30,863,328 (GRCm39) C2119* probably null Het
Taar9 A G 10: 23,984,741 (GRCm39) I231T probably damaging Het
Tacr2 A G 10: 62,097,327 (GRCm39) Y269C probably damaging Het
Taf3 T G 2: 9,955,934 (GRCm39) K744N possibly damaging Het
Tcstv1b T A 13: 120,634,758 (GRCm39) S13R probably benign Het
Tenm4 T A 7: 96,555,452 (GRCm39) V2682E probably damaging Het
Tet1 A C 10: 62,658,442 (GRCm39) L1468R probably damaging Het
Tgds T C 14: 118,354,445 (GRCm39) probably benign Het
Tgfb2 A T 1: 186,361,110 (GRCm39) Y380* probably null Het
Tgm5 T G 2: 120,882,953 (GRCm39) K435Q probably damaging Het
Themis A G 10: 28,637,507 (GRCm39) T204A probably benign Het
Tm4sf1 T C 3: 57,202,100 (GRCm39) Y37C probably damaging Het
Tmed2b A G 9: 33,640,068 (GRCm39) noncoding transcript Het
Tnn T C 1: 159,972,603 (GRCm39) N333S possibly damaging Het
Tppp2 A G 14: 52,156,805 (GRCm39) N61D probably benign Het
Treml2 A G 17: 48,616,187 (GRCm39) T276A probably benign Het
Trit1 T C 4: 122,910,431 (GRCm39) V10A probably benign Het
Uba1y T G Y: 825,890 (GRCm39) probably null Het
Uqcc1 T C 2: 155,700,026 (GRCm39) probably benign Het
Vcam1 C G 3: 115,909,584 (GRCm39) G581A probably damaging Het
Vmn1r16 G A 6: 57,300,175 (GRCm39) T149I probably benign Het
Vmn1r209 T C 13: 22,989,826 (GRCm39) D288G probably damaging Het
Vmn1r78 T A 7: 11,886,891 (GRCm39) Y167* probably null Het
Vmn2r103 T A 17: 20,015,338 (GRCm39) S493T probably benign Het
Vmn2r105 T A 17: 20,447,556 (GRCm39) M423L probably benign Het
Vps13c T C 9: 67,871,564 (GRCm39) F3244L probably damaging Het
Zfp119b A T 17: 56,246,642 (GRCm39) D149E probably damaging Het
Zfp345 T C 2: 150,315,228 (GRCm39) Y103C possibly damaging Het
Zmym6 C T 4: 127,017,009 (GRCm39) T930I probably benign Het
Other mutations in Crb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Crb2 APN 2 37,682,076 (GRCm39) missense probably damaging 1.00
IGL01357:Crb2 APN 2 37,685,523 (GRCm39) unclassified probably benign
IGL01363:Crb2 APN 2 37,683,845 (GRCm39) missense probably benign 0.01
IGL02006:Crb2 APN 2 37,676,475 (GRCm39) missense probably damaging 1.00
IGL02380:Crb2 APN 2 37,673,447 (GRCm39) missense probably damaging 0.96
IGL02455:Crb2 APN 2 37,684,576 (GRCm39) missense possibly damaging 0.74
IGL03107:Crb2 APN 2 37,681,428 (GRCm39) missense probably benign 0.10
R1350:Crb2 UTSW 2 37,682,081 (GRCm39) missense probably damaging 1.00
R1353:Crb2 UTSW 2 37,677,293 (GRCm39) missense probably damaging 1.00
R1466:Crb2 UTSW 2 37,673,400 (GRCm39) missense probably damaging 1.00
R1466:Crb2 UTSW 2 37,673,400 (GRCm39) missense probably damaging 1.00
R1509:Crb2 UTSW 2 37,676,631 (GRCm39) missense probably benign 0.01
R1734:Crb2 UTSW 2 37,683,668 (GRCm39) missense probably damaging 1.00
R2006:Crb2 UTSW 2 37,673,446 (GRCm39) missense probably damaging 0.99
R2918:Crb2 UTSW 2 37,673,395 (GRCm39) missense probably benign 0.01
R3431:Crb2 UTSW 2 37,682,229 (GRCm39) missense probably benign 0.24
R3975:Crb2 UTSW 2 37,683,680 (GRCm39) missense possibly damaging 0.74
R4074:Crb2 UTSW 2 37,676,855 (GRCm39) missense probably damaging 1.00
R4518:Crb2 UTSW 2 37,680,401 (GRCm39) missense probably damaging 1.00
R4521:Crb2 UTSW 2 37,685,349 (GRCm39) unclassified probably benign
R4802:Crb2 UTSW 2 37,683,768 (GRCm39) missense probably benign 0.09
R4913:Crb2 UTSW 2 37,680,257 (GRCm39) missense probably benign
R4930:Crb2 UTSW 2 37,673,326 (GRCm39) missense probably damaging 1.00
R4947:Crb2 UTSW 2 37,685,343 (GRCm39) unclassified probably benign
R4959:Crb2 UTSW 2 37,680,482 (GRCm39) missense probably damaging 0.99
R5215:Crb2 UTSW 2 37,683,765 (GRCm39) missense probably benign 0.23
R5268:Crb2 UTSW 2 37,680,833 (GRCm39) missense probably damaging 1.00
R5446:Crb2 UTSW 2 37,685,461 (GRCm39) missense probably benign 0.16
R5739:Crb2 UTSW 2 37,683,666 (GRCm39) missense probably damaging 0.99
R5875:Crb2 UTSW 2 37,677,266 (GRCm39) splice site probably null
R6179:Crb2 UTSW 2 37,680,269 (GRCm39) missense probably damaging 1.00
R6450:Crb2 UTSW 2 37,683,838 (GRCm39) missense possibly damaging 0.91
R6569:Crb2 UTSW 2 37,682,163 (GRCm39) missense probably damaging 0.99
R6828:Crb2 UTSW 2 37,666,421 (GRCm39) small deletion probably benign
R7040:Crb2 UTSW 2 37,677,696 (GRCm39) missense probably benign 0.32
R7153:Crb2 UTSW 2 37,677,420 (GRCm39) missense probably benign 0.00
R7362:Crb2 UTSW 2 37,680,211 (GRCm39) missense probably benign 0.00
R7515:Crb2 UTSW 2 37,673,412 (GRCm39) missense probably damaging 1.00
R7519:Crb2 UTSW 2 37,683,332 (GRCm39) missense probably damaging 1.00
R7583:Crb2 UTSW 2 37,680,607 (GRCm39) missense probably benign 0.00
R7819:Crb2 UTSW 2 37,681,603 (GRCm39) missense probably benign 0.00
R8016:Crb2 UTSW 2 37,676,568 (GRCm39) missense possibly damaging 0.50
R8049:Crb2 UTSW 2 37,683,252 (GRCm39) missense probably benign 0.02
R8090:Crb2 UTSW 2 37,685,503 (GRCm39) missense probably damaging 1.00
R8907:Crb2 UTSW 2 37,685,395 (GRCm39) missense probably benign 0.00
R9010:Crb2 UTSW 2 37,680,698 (GRCm39) missense probably benign 0.01
R9291:Crb2 UTSW 2 37,682,213 (GRCm39) missense probably damaging 0.99
R9448:Crb2 UTSW 2 37,677,773 (GRCm39) missense probably benign 0.01
R9706:Crb2 UTSW 2 37,681,215 (GRCm39) missense probably damaging 0.98
R9714:Crb2 UTSW 2 37,681,215 (GRCm39) missense probably damaging 0.98
X0025:Crb2 UTSW 2 37,682,221 (GRCm39) missense probably damaging 1.00
Z1176:Crb2 UTSW 2 37,666,383 (GRCm39) missense probably benign
Z1177:Crb2 UTSW 2 37,680,836 (GRCm39) missense possibly damaging 0.71
Z1177:Crb2 UTSW 2 37,677,377 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14