Incidental Mutation 'R6561:Cdh12'
ID 523147
Institutional Source Beutler Lab
Gene Symbol Cdh12
Ensembl Gene ENSMUSG00000040452
Gene Name cadherin 12
Synonyms Br-cadherin
MMRRC Submission 044685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R6561 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 20449351-21589619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21492680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 233 (Y233C)
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: Y233C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
AA Change: Y233C

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: Y233C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 97% (30/31)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,977,825 (GRCm39) I468F probably benign Het
Ahsa2 T A 11: 23,441,036 (GRCm39) I202F possibly damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Anapc1 A G 2: 128,505,919 (GRCm39) V639A probably damaging Het
Dchs2 G T 3: 83,036,476 (GRCm39) V408F probably benign Het
Dnmt3c T A 2: 153,561,950 (GRCm39) L551Q probably damaging Het
Dock2 A G 11: 34,578,365 (GRCm39) F746S probably damaging Het
Fastkd3 C T 13: 68,732,149 (GRCm39) R157C possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ier3ip1 T A 18: 77,027,344 (GRCm39) S58T probably damaging Het
Itpr2 A G 6: 146,135,504 (GRCm39) V1809A probably damaging Het
Kif22 T A 7: 126,630,225 (GRCm39) N437I probably benign Het
Klri1 A G 6: 129,693,964 (GRCm39) V41A probably benign Het
Lrrc14 T A 15: 76,597,646 (GRCm39) D125E possibly damaging Het
Nek10 A T 14: 14,828,448 (GRCm38) N90I possibly damaging Het
Nostrin G A 2: 69,011,201 (GRCm39) A331T probably benign Het
Or4k2 T C 14: 50,423,775 (GRCm39) K300E probably damaging Het
Or5b109 A G 19: 13,212,394 (GRCm39) Y260C probably damaging Het
Or8b12i T C 9: 20,082,073 (GRCm39) T265A probably benign Het
Plxna1 A G 6: 89,333,960 (GRCm39) V223A probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Skic3 T A 13: 76,298,638 (GRCm39) S1115T probably damaging Het
Smg1 A T 7: 117,765,300 (GRCm39) probably benign Het
Sorbs1 A G 19: 40,314,496 (GRCm39) I772T probably benign Het
Sptbn2 A G 19: 4,797,954 (GRCm39) N1927S probably benign Het
Tab1 T C 15: 80,033,031 (GRCm39) V105A probably benign Het
Trbv15 A T 6: 41,118,414 (GRCm39) T57S probably benign Het
Vmn1r78 A T 7: 11,886,826 (GRCm39) I146F probably damaging Het
Vmn2r39 T A 7: 9,018,092 (GRCm39) Y748F probably damaging Het
Zfp493 T A 13: 67,934,338 (GRCm39) V65D possibly damaging 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
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
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'- TGTTTTACTGTACGGTGGTGAAAAC -3'
(R):5'- GATGGCTCAATTCTCTTTCTAGAC -3'

Sequencing Primer
(F):5'- TTACTGTACGGTGGTGAAAACAAAAG -3'
(R):5'- CGCATTTGCAAACATGCTTAACAGG -3'
Posted On 2018-06-06