Incidental Mutation 'R3625:Cdh12'
ID 269389
Institutional Source Beutler Lab
Gene Symbol Cdh12
Ensembl Gene ENSMUSG00000040452
Gene Name cadherin 12
Synonyms Br-cadherin
MMRRC Submission 040679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R3625 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 20449351-21589619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 21358842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 89 (V89L)
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: V89L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
AA Change: V89L

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: V89L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.1915 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (40/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 T C 7: 143,425,591 (GRCm39) V80A possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atg3 T A 16: 44,995,624 (GRCm39) I119N probably benign Het
Cdh3 C A 8: 107,270,310 (GRCm39) H396N probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dab2ip C A 2: 35,533,903 (GRCm39) S43* probably null Het
Dmxl2 A G 9: 54,300,927 (GRCm39) S2394P probably benign Het
F13a1 T G 13: 37,082,067 (GRCm39) N546H probably benign Het
Fbn2 T C 18: 58,194,814 (GRCm39) N1449S probably damaging Het
Flywch1 T C 17: 23,979,175 (GRCm39) probably benign Het
Grxcr2 T A 18: 42,131,883 (GRCm39) D62V probably damaging Het
H2bc8 T C 13: 23,755,625 (GRCm39) probably benign Het
Ifnab A T 4: 88,609,016 (GRCm39) I150N probably damaging Het
Igsf8 T C 1: 172,145,336 (GRCm39) V284A probably benign Het
Kdm1a T C 4: 136,288,419 (GRCm39) E388G possibly damaging Het
Map3k8 G A 18: 4,333,965 (GRCm39) R376C probably damaging Het
Map6 A T 7: 98,918,402 (GRCm39) T189S possibly damaging Het
Mms22l T A 4: 24,505,357 (GRCm39) S206T probably damaging Het
N4bp1 A G 8: 87,578,337 (GRCm39) L676S probably damaging Het
Nkx6-2 A G 7: 139,162,106 (GRCm39) F117S possibly damaging Het
Ociad2 C T 5: 73,481,173 (GRCm39) C72Y probably damaging Het
Or10w1 T A 19: 13,632,346 (GRCm39) C184* probably null Het
Or52e15 A T 7: 104,645,191 (GRCm39) F307I probably benign Het
Pcdhb6 G T 18: 37,469,193 (GRCm39) V21L probably damaging Het
Pogk G A 1: 166,231,081 (GRCm39) T82I probably damaging Het
Pramel51 T C 12: 88,142,731 (GRCm39) S296G probably benign Het
Prkcsh A G 9: 21,922,548 (GRCm39) E283G probably null Het
Prkd3 C T 17: 79,292,733 (GRCm39) R113H probably damaging Het
Rabgef1 T C 5: 130,240,961 (GRCm39) probably null Het
Rec8 T C 14: 55,859,954 (GRCm39) I234T possibly damaging Het
Sim1 A T 10: 50,857,432 (GRCm39) H394L probably benign Het
Thy1 A G 9: 43,958,028 (GRCm39) E52G probably damaging Het
Trav14n-3 A T 14: 53,607,543 (GRCm39) I4F probably damaging Het
Trim15 T C 17: 37,177,768 (GRCm39) T76A possibly damaging Het
Ttn A G 2: 76,599,145 (GRCm39) I19288T probably damaging Het
Vmn1r6 C T 6: 56,979,920 (GRCm39) T172I probably damaging Het
Vmn2r52 A T 7: 9,893,105 (GRCm39) L678Q probably damaging Het
Vpreb1a T C 16: 16,686,668 (GRCm39) H74R probably benign Het
Yeats4 T C 10: 117,056,273 (GRCm39) I100V probably benign Het
Zfp36 C A 7: 28,077,681 (GRCm39) A76S probably benign Het
Other mutations in Cdh12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Cdh12 APN 15 21,237,989 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- CTGAGGAGTTAAGGGTGCATTC -3'
(R):5'- CCCACAGGAGACATTTCTGG -3'

Sequencing Primer
(F):5'- AGGGTGCATTCTGAATTATCCAGC -3'
(R):5'- CAGGAGACATTTCTGGAACACTAGC -3'
Posted On 2015-02-19