Mutagenetix > Incidental Mutations

Incidental Mutation 'R5275:Pcdh12'

403910

Institutional Source

Beutler Lab

Gene Symbol

Pcdh12

Ensembl Gene

ENSMUSG00000024440

Gene Name

protocadherin 12

Synonyms

VE-cadherin-2, vascular endothelial cadherin-2

MMRRC Submission

042838-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38267092-38284402 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to A at 38284101 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025311] [ENSMUST00000194012]

Predicted Effect

probably benign
Transcript: ENSMUST00000025311

SMART Domains

Protein: ENSMUSP00000025311
Gene: ENSMUSG00000024440

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
CA	53	133	4.42e-2	SMART
CA	157	242	2.55e-17	SMART
CA	266	350	2.31e-24	SMART
CA	376	458	3.86e-26	SMART
CA	482	563	6.27e-26	SMART
CA	621	704	3.02e-2	SMART
transmembrane domain	716	738	N/A	INTRINSIC
low complexity region	960	975	N/A	INTRINSIC
low complexity region	1032	1041	N/A	INTRINSIC
low complexity region	1115	1125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193123

Predicted Effect

probably benign
Transcript: ENSMUST00000194012

SMART Domains

Protein: ENSMUSP00000141907
Gene: ENSMUSG00000024440

Domain	Start	End	E-Value	Type
low complexity region	56	66	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation are viable, fertile and do not display any obvious histomorphological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,235,659	R155H	probably benign	Het
Abcc1	C	T	16: 14,466,186	L1222F	probably damaging	Het
Alpl	T	C	4: 137,749,608	T245A	probably benign	Het
Ank2	T	C	3: 127,032,183	H378R	probably damaging	Het
Apold1	G	T	6: 134,983,800	L72F	probably damaging	Het
Arhgef1	G	A	7: 24,919,352		probably null	Het
Atp5c1	T	C	2: 10,068,733	R10G	possibly damaging	Het
Ccr10	C	T	11: 101,174,285	V140M	possibly damaging	Het
Cep135	T	A	5: 76,593,204	H42Q	possibly damaging	Het
Chd6	A	G	2: 160,969,363	L1440P	probably benign	Het
Clca3a2	A	G	3: 144,813,579	S279P	probably damaging	Het
Cma1	A	T	14: 55,941,700	I233N	probably damaging	Het
Dnajc16	T	C	4: 141,767,928	E493G	possibly damaging	Het
Dst	T	C	1: 34,180,148	S1890P	probably benign	Het
Ears2	T	C	7: 122,048,198	R288G	probably damaging	Het
Elovl4	G	A	9: 83,780,661	P273L	possibly damaging	Het
Fryl	T	C	5: 73,112,791	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,444,889		noncoding transcript	Het
Gm38100	A	G	1: 175,920,770	H134R	probably benign	Het
Gm5117	T	A	8: 31,739,567		noncoding transcript	Het
Gm8882	T	G	6: 132,361,877	Q126P	unknown	Het
Gm8909	T	C	17: 36,161,675		probably null	Het
Lmtk3	G	A	7: 45,791,298	D243N	probably damaging	Het
Lsm7	T	C	10: 80,854,620	E32G	probably damaging	Het
Olfr1309	T	A	2: 111,983,829	I82F	probably damaging	Het
Olfr1344	A	T	7: 6,440,016	T39S	probably benign	Het
Olfr728	T	A	14: 50,140,496	I48F	probably benign	Het
Opa1	C	T	16: 29,611,579	T451I	probably damaging	Het
Perm1	T	C	4: 156,217,518	L173P	probably benign	Het
Plvap	T	C	8: 71,511,670	Q16R	probably benign	Het
Ppan	T	A	9: 20,889,773	Y115*	probably null	Het
Prl7d1	A	T	13: 27,709,247	V227D	probably damaging	Het
Prss54	T	C	8: 95,564,478	T165A	probably damaging	Het
Psrc1	A	G	3: 108,386,359	I195V	probably benign	Het
Ptpn20	A	G	14: 33,631,192	H296R	probably benign	Het
Rergl	A	G	6: 139,501,821		probably null	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Scfd1	A	T	12: 51,415,589	H409L	probably benign	Het
Serpina3c	T	C	12: 104,148,378	E333G	probably damaging	Het
Serpinb6c	A	G	13: 33,893,817	F190S	probably damaging	Het
Slc24a5	C	T	2: 125,085,861	T360I	probably benign	Het
Snx6	T	C	12: 54,784,022	H51R	probably damaging	Het
Sorl1	A	T	9: 42,030,902	V1009D	probably benign	Het
Tdh	T	C	14: 63,496,109	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,051,912	L1255*	probably null	Het
Tlk1	C	T	2: 70,752,205		probably benign	Het
Tnc	G	A	4: 63,964,730	Q1885*	probably null	Het
Vcl	T	C	14: 21,010,078	V595A	probably damaging	Het
Vmn1r84	A	T	7: 12,361,814	N305K	probably benign	Het
Zbtb2	T	C	10: 4,368,508	K506R	probably damaging	Het

Other mutations in Pcdh12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Pcdh12	APN	18	38281457	missense	probably benign
IGL00964:Pcdh12	APN	18	38282731	missense	probably benign	0.27
IGL01105:Pcdh12	APN	18	38275347	missense	probably damaging	1.00
IGL02011:Pcdh12	APN	18	38281420	missense	probably damaging	1.00
IGL02234:Pcdh12	APN	18	38283535	missense	probably damaging	1.00
IGL02452:Pcdh12	APN	18	38281693	missense	probably benign	0.00
IGL03412:Pcdh12	APN	18	38283515	missense	probably benign	0.24
R0729:Pcdh12	UTSW	18	38282464	missense	probably benign	0.20
R1330:Pcdh12	UTSW	18	38281861	missense	probably benign	0.13
R1394:Pcdh12	UTSW	18	38281189	critical splice donor site	probably null
R1413:Pcdh12	UTSW	18	38283443	missense	probably damaging	1.00
R1993:Pcdh12	UTSW	18	38282143	missense	possibly damaging	0.62
R2115:Pcdh12	UTSW	18	38283986	missense	probably damaging	1.00
R2567:Pcdh12	UTSW	18	38282096	missense	probably damaging	1.00
R2926:Pcdh12	UTSW	18	38282390	missense	probably damaging	0.99
R3810:Pcdh12	UTSW	18	38281237	missense	probably damaging	1.00
R3813:Pcdh12	UTSW	18	38283614	nonsense	probably null
R5400:Pcdh12	UTSW	18	38268898	missense	probably damaging	1.00
R5523:Pcdh12	UTSW	18	38283139	missense	probably damaging	1.00
R5539:Pcdh12	UTSW	18	38281744	missense	possibly damaging	0.77
R5604:Pcdh12	UTSW	18	38268882	missense	probably damaging	1.00
R6012:Pcdh12	UTSW	18	38283752	missense	probably damaging	1.00
R6042:Pcdh12	UTSW	18	38281505	missense	probably damaging	1.00
R6129:Pcdh12	UTSW	18	38277859	missense	probably damaging	1.00
R6239:Pcdh12	UTSW	18	38282401	missense	probably damaging	1.00
R6508:Pcdh12	UTSW	18	38281337	nonsense	probably null
R7250:Pcdh12	UTSW	18	38281976	missense	probably benign
R7259:Pcdh12	UTSW	18	38281624	missense	probably benign	0.00
R7271:Pcdh12	UTSW	18	38283047	missense	probably damaging	1.00
R7489:Pcdh12	UTSW	18	38281789	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- ACAGTTTCCCTATCACCGTG -3'
(R):5'- ACTGCTAAGTGGACCAGCTG -3'

Sequencing Primer
(F):5'- TCCCTATCACCGTGCCAGAC -3'
(R):5'- TCTTCCAGCAATTTATCTGTTCTGGG -3'

Posted On

2016-07-22