Incidental Mutation 'IGL01351:Cdh12'
ID 75353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh12
Ensembl Gene ENSMUSG00000040452
Gene Name cadherin 12
Synonyms Br-cadherin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # IGL01351
Quality Score
Status
Chromosome 15
Chromosomal Location 20449351-21589619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21237989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 75 (V75M)
Ref Sequence ENSEMBL: ENSMUSP00000153750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075132] [ENSMUST00000227496]
AlphaFold Q5RJH3
Predicted Effect probably damaging
Transcript: ENSMUST00000075132
AA Change: V75M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
AA Change: V75M

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
CA 77 158 5.18e-18 SMART
CA 182 267 4.4e-30 SMART
CA 291 383 2.42e-18 SMART
CA 406 487 7.55e-20 SMART
CA 510 597 9.3e-2 SMART
transmembrane domain 615 637 N/A INTRINSIC
Pfam:Cadherin_C 640 784 1.7e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000227496
AA Change: V75M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. This gene is expressed in both the excitatory and inhibitory neurons in various areas of the adult central nervous system including the cerebellum, neocortex, hippocampus and in different subcortical nuclei. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 15. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,217,565 (GRCm39) S336P probably benign Het
Abca9 T C 11: 110,039,729 (GRCm39) Y428C probably damaging Het
Alpk1 T C 3: 127,466,011 (GRCm39) Q1165R probably damaging Het
Angel2 C A 1: 190,665,310 (GRCm39) N80K probably benign Het
Bmp6 T C 13: 38,653,610 (GRCm39) S226P probably damaging Het
Ccar2 T C 14: 70,383,311 (GRCm39) T229A probably benign Het
Cdh6 G T 15: 13,034,326 (GRCm39) A778E possibly damaging Het
Corin A T 5: 72,496,334 (GRCm39) C540S probably damaging Het
Cyfip1 C A 7: 55,547,991 (GRCm39) Y530* probably null Het
Dock10 T G 1: 80,570,876 (GRCm39) K327N probably damaging Het
Dpy19l3 A G 7: 35,426,840 (GRCm39) probably benign Het
E2f8 T C 7: 48,516,899 (GRCm39) T827A probably benign Het
Edem3 T C 1: 151,668,136 (GRCm39) V305A possibly damaging Het
Fam170a T C 18: 50,414,845 (GRCm39) W164R probably benign Het
Fbxw14 T C 9: 109,103,640 (GRCm39) D24G possibly damaging Het
Gnmt T C 17: 47,037,606 (GRCm39) D124G probably benign Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Gsdmd T A 15: 75,736,186 (GRCm39) I105N probably damaging Het
Hps5 C T 7: 46,410,856 (GRCm39) M1113I probably damaging Het
Hyal6 T C 6: 24,734,178 (GRCm39) F37S probably damaging Het
Il17c C T 8: 123,148,862 (GRCm39) T2I probably benign Het
Lyz1 A G 10: 117,127,093 (GRCm39) C48R probably damaging Het
Or52e18 T A 7: 104,609,946 (GRCm39) probably benign Het
Pafah1b3 G A 7: 24,994,570 (GRCm39) R215C possibly damaging Het
Psmb4 A T 3: 94,793,538 (GRCm39) probably null Het
Rnf213 T C 11: 119,373,944 (GRCm39) V5009A probably benign Het
Sema6a T C 18: 47,414,369 (GRCm39) K494E possibly damaging Het
Sfmbt1 T C 14: 30,491,777 (GRCm39) V17A probably benign Het
Speg T A 1: 75,387,920 (GRCm39) probably benign Het
Spint1 A G 2: 119,076,936 (GRCm39) D340G probably damaging Het
Tasor A G 14: 27,186,258 (GRCm39) E819G probably benign Het
Tctn3 T C 19: 40,596,081 (GRCm39) I309V probably benign Het
Tex19.1 T A 11: 121,038,072 (GRCm39) D143E probably damaging Het
Tktl2 A G 8: 66,965,548 (GRCm39) I369V probably benign Het
Tm2d2 A G 8: 25,510,573 (GRCm39) probably benign Het
Traf4 C A 11: 78,056,226 (GRCm39) R14L possibly damaging Het
Zfhx4 A G 3: 5,466,196 (GRCm39) Y2118C probably damaging Het
Zmynd15 C A 11: 70,354,416 (GRCm39) N425K probably benign Het
Other mutations in Cdh12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Cdh12 APN 15 21,492,775 (GRCm39) missense probably damaging 1.00
IGL02088:Cdh12 APN 15 21,480,425 (GRCm39) nonsense probably null
IGL02894:Cdh12 APN 15 21,586,380 (GRCm39) missense probably damaging 1.00
IGL03008:Cdh12 APN 15 21,480,416 (GRCm39) missense probably damaging 0.98
IGL03271:Cdh12 APN 15 21,586,539 (GRCm39) missense probably benign 0.19
IGL03402:Cdh12 APN 15 21,583,826 (GRCm39) missense probably benign 0.08
R0042:Cdh12 UTSW 15 21,537,763 (GRCm39) splice site probably benign
R0126:Cdh12 UTSW 15 21,584,031 (GRCm39) missense probably benign
R0239:Cdh12 UTSW 15 21,586,493 (GRCm39) missense probably damaging 1.00
R0239:Cdh12 UTSW 15 21,586,493 (GRCm39) missense probably damaging 1.00
R0335:Cdh12 UTSW 15 21,578,635 (GRCm39) critical splice donor site probably null
R0421:Cdh12 UTSW 15 21,480,310 (GRCm39) critical splice acceptor site probably null
R0918:Cdh12 UTSW 15 21,492,685 (GRCm39) missense probably damaging 0.99
R0972:Cdh12 UTSW 15 21,237,850 (GRCm39) missense probably benign 0.27
R1014:Cdh12 UTSW 15 21,492,706 (GRCm39) missense probably damaging 0.97
R1304:Cdh12 UTSW 15 21,584,023 (GRCm39) missense probably benign 0.10
R1677:Cdh12 UTSW 15 21,520,491 (GRCm39) missense probably damaging 0.99
R1735:Cdh12 UTSW 15 21,520,452 (GRCm39) missense probably damaging 1.00
R1916:Cdh12 UTSW 15 21,520,336 (GRCm39) splice site probably null
R1950:Cdh12 UTSW 15 21,237,965 (GRCm39) missense probably damaging 1.00
R2059:Cdh12 UTSW 15 21,583,826 (GRCm39) missense probably benign 0.08
R2157:Cdh12 UTSW 15 21,583,873 (GRCm39) missense possibly damaging 0.84
R2404:Cdh12 UTSW 15 21,537,720 (GRCm39) missense probably damaging 1.00
R3625:Cdh12 UTSW 15 21,358,842 (GRCm39) missense probably damaging 1.00
R3703:Cdh12 UTSW 15 21,583,912 (GRCm39) missense probably damaging 0.97
R3704:Cdh12 UTSW 15 21,583,912 (GRCm39) missense probably damaging 0.97
R3743:Cdh12 UTSW 15 21,537,745 (GRCm39) missense probably damaging 0.98
R3771:Cdh12 UTSW 15 21,578,640 (GRCm39) splice site probably benign
R3780:Cdh12 UTSW 15 21,586,063 (GRCm39) splice site probably null
R4750:Cdh12 UTSW 15 21,583,894 (GRCm39) missense possibly damaging 0.59
R5373:Cdh12 UTSW 15 21,583,998 (GRCm39) missense probably damaging 1.00
R5374:Cdh12 UTSW 15 21,583,998 (GRCm39) missense probably damaging 1.00
R5443:Cdh12 UTSW 15 21,237,935 (GRCm39) missense probably benign 0.01
R5548:Cdh12 UTSW 15 21,492,740 (GRCm39) missense probably damaging 1.00
R5746:Cdh12 UTSW 15 21,358,810 (GRCm39) missense probably null 1.00
R5960:Cdh12 UTSW 15 21,492,562 (GRCm39) splice site probably null
R6248:Cdh12 UTSW 15 21,237,800 (GRCm39) missense possibly damaging 0.82
R6379:Cdh12 UTSW 15 21,492,743 (GRCm39) missense probably benign 0.02
R6419:Cdh12 UTSW 15 21,520,483 (GRCm39) missense probably damaging 0.99
R6561:Cdh12 UTSW 15 21,492,680 (GRCm39) missense probably damaging 1.00
R6901:Cdh12 UTSW 15 21,583,872 (GRCm39) missense probably benign 0.01
R7025:Cdh12 UTSW 15 21,358,900 (GRCm39) missense probably damaging 1.00
R7070:Cdh12 UTSW 15 21,583,915 (GRCm39) missense probably benign 0.38
R7508:Cdh12 UTSW 15 21,583,851 (GRCm39) missense probably benign
R8126:Cdh12 UTSW 15 21,558,393 (GRCm39) missense probably benign 0.02
R8307:Cdh12 UTSW 15 21,358,950 (GRCm39) missense probably damaging 1.00
R8307:Cdh12 UTSW 15 21,358,949 (GRCm39) missense probably benign
R8969:Cdh12 UTSW 15 21,492,739 (GRCm39) missense probably damaging 1.00
R9201:Cdh12 UTSW 15 21,237,825 (GRCm39) missense possibly damaging 0.96
R9272:Cdh12 UTSW 15 21,492,801 (GRCm39) splice site probably benign
X0065:Cdh12 UTSW 15 21,358,851 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07