Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01414:Cdh12'

80170

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 #

IGL01414

Quality Score

Status

Chromosome

Chromosomal Location

20449351-21589619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21492775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 265 (N265Y)

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: N265Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
AA Change: N265Y

Domain	Start	End	E-Value	Type
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: N265Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	C	T	4: 156,279,696 (GRCm39)		probably null	Het
Arhgap45	T	A	10: 79,862,938 (GRCm39)	S705T	probably damaging	Het
B4galt4	A	G	16: 38,578,153 (GRCm39)	E200G	probably damaging	Het
Cerk	T	A	15: 86,043,343 (GRCm39)	T153S	probably benign	Het
Ect2	A	T	3: 27,181,878 (GRCm39)		probably benign	Het
Ep300	T	A	15: 81,511,467 (GRCm39)		probably benign	Het
Gm26920	T	G	7: 29,767,503 (GRCm39)		probably benign	Het
Ighv1-66	T	C	12: 115,556,929 (GRCm39)	Y51C	probably benign	Het
Ints1	T	C	5: 139,744,253 (GRCm39)	D1503G	probably benign	Het
Lhpp	A	G	7: 132,244,249 (GRCm39)	K189E	probably damaging	Het
Myh13	A	G	11: 67,233,298 (GRCm39)	T606A	probably benign	Het
Naip1	T	C	13: 100,545,681 (GRCm39)		probably null	Het
Nckap5	G	T	1: 126,456,450 (GRCm39)	Q38K	probably damaging	Het
Nlgn3	A	G	X: 100,345,866 (GRCm39)	I93V	probably benign	Het
Nxpe2	A	G	9: 48,231,923 (GRCm39)	F345L	probably benign	Het
Pcdhb22	A	G	18: 37,652,549 (GRCm39)	N339S	probably damaging	Het
Rbbp7	T	A	X: 161,557,577 (GRCm39)	I322N	probably damaging	Het
Rigi	C	A	4: 40,222,176 (GRCm39)	V368F	probably damaging	Het
Rprd2	A	T	3: 95,672,837 (GRCm39)	F855L	probably damaging	Het
Scin	A	T	12: 40,174,698 (GRCm39)	H128Q	probably damaging	Het
Sema4g	A	G	19: 44,986,435 (GRCm39)	Y337C	probably damaging	Het
Stx6	C	T	1: 155,077,691 (GRCm39)	R233C	possibly damaging	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Trem3	G	T	17: 48,556,843 (GRCm39)	V105L	probably benign	Het
Vmn2r108	T	A	17: 20,691,942 (GRCm39)	M194L	probably benign	Het
Zfyve16	A	T	13: 92,658,704 (GRCm39)	D402E	probably benign	Het

Other mutations in Cdh12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Cdh12	APN	15	21,237,989 (GRCm39)	missense	probably damaging	0.98
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

2013-11-05