Incidental Mutation 'R1734:Crb2'
ID 199545
Institutional Source Beutler Lab
Gene Symbol Crb2
Ensembl Gene ENSMUSG00000035403
Gene Name crumbs family member 2
Synonyms
MMRRC Submission 039766-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1734 (G1)
Quality Score 102
Status Validated
Chromosome 2
Chromosomal Location 37666261-37689115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37683668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1057 (C1057S)
Ref Sequence ENSEMBL: ENSMUSP00000058007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050372]
AlphaFold Q80YA8
Predicted Effect probably damaging
Transcript: ENSMUST00000050372
AA Change: C1057S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403
AA Change: C1057S

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 0.9453 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,396,596 (GRCm39) C379S probably benign Het
Abca13 T C 11: 9,535,460 (GRCm39) C4695R probably benign Het
Actr10 T A 12: 71,008,770 (GRCm39) V401E probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Aimp1 A T 3: 132,380,557 (GRCm39) I59K probably damaging Het
Alms1 T A 6: 85,618,532 (GRCm39) probably null Het
Anln A T 9: 22,262,251 (GRCm39) S947T possibly damaging Het
Atp2c1 T C 9: 105,291,854 (GRCm39) T733A probably damaging Het
BC049715 C T 6: 136,817,306 (GRCm39) P182L probably damaging Het
Cblb T C 16: 52,006,603 (GRCm39) probably benign Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Chac1 A T 2: 119,183,939 (GRCm39) L180F probably damaging Het
Cherp A T 8: 73,223,932 (GRCm39) probably null Het
Ckap4 A G 10: 84,363,738 (GRCm39) S442P probably benign Het
Clstn3 G A 6: 124,413,773 (GRCm39) probably benign Het
Dact2 T C 17: 14,416,901 (GRCm39) D433G probably benign Het
Dnah6 G A 6: 73,021,744 (GRCm39) T3526M probably damaging Het
Ethe1 A G 7: 24,307,809 (GRCm39) T210A probably benign Het
Fat2 A G 11: 55,172,197 (GRCm39) S2839P probably benign Het
Fbxl7 T C 15: 26,543,735 (GRCm39) Y304C probably damaging Het
Gad1-ps A T 10: 99,281,637 (GRCm39) noncoding transcript Het
Grm3 C T 5: 9,639,742 (GRCm39) R101K probably benign Het
Hspa12b A G 2: 130,980,456 (GRCm39) Y125C possibly damaging Het
Il10ra T C 9: 45,167,241 (GRCm39) T437A probably benign Het
Itprid2 G A 2: 79,488,166 (GRCm39) V750M probably damaging Het
Jcad T C 18: 4,674,526 (GRCm39) F763L probably damaging Het
Map3k10 T C 7: 27,357,540 (GRCm39) D746G probably damaging Het
Mettl9 T A 7: 120,647,064 (GRCm39) Y57N probably damaging Het
Nav2 G A 7: 49,225,468 (GRCm39) E1803K probably damaging Het
Nol11 G A 11: 107,066,449 (GRCm39) S447L possibly damaging Het
Or14a256 C T 7: 86,265,425 (GRCm39) V143M probably benign Het
Osbpl1a T C 18: 12,921,373 (GRCm39) probably null Het
Pde6a A G 18: 61,419,036 (GRCm39) N804S probably damaging Het
Pepd A T 7: 34,730,851 (GRCm39) D301V probably benign Het
Piwil2 A T 14: 70,663,954 (GRCm39) probably null Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Prrc2a A G 17: 35,369,683 (GRCm39) S1877P possibly damaging Het
Retreg2 G T 1: 75,119,630 (GRCm39) probably null Het
Slc7a11 G A 3: 50,326,795 (GRCm39) Q489* probably null Het
Sned1 G A 1: 93,187,490 (GRCm39) D256N probably damaging Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Spmip9 T A 6: 70,890,645 (GRCm39) Q49L probably benign Het
Syce2 G A 8: 85,613,776 (GRCm39) E168K probably benign Het
Tmem260 G T 14: 48,746,550 (GRCm39) V609L probably benign Het
Trim35 A G 14: 66,546,778 (GRCm39) D515G probably damaging Het
Tspan5 T C 3: 138,603,901 (GRCm39) Y131H probably damaging Het
Ttbk2 T C 2: 120,586,319 (GRCm39) I466V probably benign Het
Ttn T C 2: 76,576,157 (GRCm39) D24912G probably damaging Het
Utp20 A T 10: 88,603,323 (GRCm39) N1843K probably damaging Het
Vmn1r20 A G 6: 57,409,285 (GRCm39) R204G probably damaging Het
Vps18 A T 2: 119,124,423 (GRCm39) Q450L probably benign Het
Zbtb4 A G 11: 69,667,289 (GRCm39) E198G 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
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
R4801:Crb2 UTSW 2 37,683,768 (GRCm39) missense probably benign 0.09
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 PCR Primer
(F):5'- CTCTGCTACTGGCTGAGAACTTCAC -3'
(R):5'- GCAAACCATGCTCCCTGATTCGTC -3'

Sequencing Primer
(F):5'- TGAGAACTTCACGGGCTG -3'
(R):5'- tcagaaatccgcctgcc -3'
Posted On 2014-05-23