Mutagenetix > Incidental Mutation

Incidental Mutation 'R0729:Pcdh12'

67424

Institutional Source

Beutler Lab

Gene Symbol

Pcdh12

Ensembl Gene

ENSMUSG00000024440

Gene Name

protocadherin 12

Synonyms

VE-cadherin-2, vascular endothelial cadherin-2

MMRRC Submission

038910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38400145-38417454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38415517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 536 (I536T)

Ref Sequence

ENSEMBL: ENSMUSP00000025311 (fasta)

Gene Model

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

AlphaFold

O55134

Predicted Effect

probably benign
Transcript: ENSMUST00000025311
AA Change: I536T

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025311
Gene: ENSMUSG00000024440
AA Change: I536T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195747

Meta Mutation Damage Score

0.0908

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.0%

Validation Efficiency

97% (74/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,050,281 (GRCm39)	A828S	probably benign	Het
Acsm3	T	C	7: 119,383,207 (GRCm39)		probably benign	Het
Adamts12	G	A	15: 11,255,769 (GRCm39)	R446H	possibly damaging	Het
Adgrb1	A	G	15: 74,420,398 (GRCm39)	N849S	probably damaging	Het
Ankra2	A	G	13: 98,408,235 (GRCm39)	D228G	probably damaging	Het
Bicd1	T	C	6: 149,414,412 (GRCm39)	V375A	probably damaging	Het
Blvrb	A	G	7: 27,147,555 (GRCm39)	K5E	possibly damaging	Het
Cacna2d2	A	G	9: 107,394,456 (GRCm39)	N573D	probably benign	Het
Calhm2	C	A	19: 47,121,356 (GRCm39)	G271V	possibly damaging	Het
Capn13	C	T	17: 73,629,064 (GRCm39)	G581E	probably damaging	Het
Capzb	T	C	4: 139,016,288 (GRCm39)		probably benign	Het
Casd1	T	C	6: 4,619,753 (GRCm39)		probably benign	Het
Clca4b	A	G	3: 144,634,111 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crx	A	G	7: 15,605,058 (GRCm39)		probably benign	Het
Cyp2c68	T	C	19: 39,727,994 (GRCm39)		probably benign	Het
Dcaf8	T	A	1: 172,000,221 (GRCm39)	D126E	probably benign	Het
Ddx31	T	C	2: 28,764,186 (GRCm39)	I464T	probably damaging	Het
Dhx32	G	A	7: 133,339,150 (GRCm39)	T155I	probably benign	Het
Elac2	C	A	11: 64,889,349 (GRCm39)	P567T	possibly damaging	Het
Fat4	A	G	3: 39,054,444 (GRCm39)		probably benign	Het
Fh1	T	G	1: 175,442,383 (GRCm39)	N156H	probably damaging	Het
Gm10064	T	C	5: 122,835,584 (GRCm39)		noncoding transcript	Het
Gm14137	A	G	2: 119,005,834 (GRCm39)	E131G	probably benign	Het
Gpr22	T	A	12: 31,759,312 (GRCm39)	K233M	probably damaging	Het
Gpr63	A	G	4: 25,007,480 (GRCm39)	N68S	probably benign	Het
Gypa	C	T	8: 81,223,421 (GRCm39)	P66S	unknown	Het
Htr2a	A	T	14: 74,879,587 (GRCm39)	Q72L	probably benign	Het
Klhdc7b	C	T	15: 89,271,598 (GRCm39)	R827*	probably null	Het
Leo1	G	A	9: 75,364,420 (GRCm39)	R520Q	possibly damaging	Het
Lrrc66	T	C	5: 73,765,757 (GRCm39)	M429V	probably benign	Het
Lrrc74a	C	T	12: 86,792,353 (GRCm39)	Q225*	probably null	Het
Mamdc4	T	A	2: 25,460,048 (GRCm39)	N68Y	probably damaging	Het
Map3k10	G	A	7: 27,360,992 (GRCm39)	P507L	probably damaging	Het
Methig1	T	A	15: 100,272,870 (GRCm39)	C68S	probably benign	Het
Metrn	C	T	17: 26,015,202 (GRCm39)		probably benign	Het
Mmp12	C	T	9: 7,358,290 (GRCm39)	T392I	possibly damaging	Het
Mss51	A	T	14: 20,533,160 (GRCm39)	I437N	probably damaging	Het
Mtus2	A	G	5: 148,014,097 (GRCm39)	T297A	probably benign	Het
Myo10	T	C	15: 25,722,243 (GRCm39)		probably benign	Het
Ncoa7	G	A	10: 30,567,575 (GRCm39)	P319S	probably benign	Het
Nlrp4d	A	T	7: 10,111,612 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,923,535 (GRCm39)	S6455P	probably damaging	Het
Or5b97	T	C	19: 12,878,259 (GRCm39)	N295S	probably damaging	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Pex5l	G	T	3: 33,008,685 (GRCm39)		probably benign	Het
Pla2g2e	A	C	4: 138,608,046 (GRCm39)	K43Q	possibly damaging	Het
Rasa4	T	C	5: 136,130,924 (GRCm39)		probably benign	Het
Rsf1	C	T	7: 97,328,234 (GRCm39)	R1079W	probably damaging	Het
Sez6	A	G	11: 77,867,411 (GRCm39)	T803A	probably benign	Het
Shcbp1	T	A	8: 4,786,297 (GRCm39)	N602Y	probably benign	Het
Slc16a13	G	A	11: 70,109,857 (GRCm39)	P215S	probably damaging	Het
Slc39a6	T	C	18: 24,734,527 (GRCm39)	Q54R	probably benign	Het
Smg1	C	A	7: 117,745,512 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,797,156 (GRCm39)	N110D	probably damaging	Het
Sptbn1	A	T	11: 30,060,902 (GRCm39)	S2010T	probably damaging	Het
Sun1	T	A	5: 139,223,619 (GRCm39)		probably benign	Het
Sytl5	A	G	X: 9,860,736 (GRCm39)	E717G	probably damaging	Het
Tle1	A	T	4: 72,044,679 (GRCm39)		probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Tmem63b	A	G	17: 45,985,060 (GRCm39)	S179P	probably damaging	Het
Trpm3	T	A	19: 22,965,153 (GRCm39)	F1549L	probably benign	Het
Ubr4	A	T	4: 139,212,631 (GRCm39)	Y5063F	possibly damaging	Het
Uroc1	T	A	6: 90,313,937 (GRCm39)	Y75N	probably damaging	Het
Vmn2r70	T	C	7: 85,215,112 (GRCm39)	T141A	probably benign	Het
Vps13c	A	G	9: 67,868,931 (GRCm39)	K3128E	probably damaging	Het
Wdr26	T	C	1: 181,013,470 (GRCm39)		probably null	Het
Wrn	T	A	8: 33,738,946 (GRCm39)		probably null	Het
Zfp106	C	T	2: 120,385,729 (GRCm39)	V13M	probably damaging	Het
Zfp456	G	A	13: 67,514,663 (GRCm39)	H348Y	probably damaging	Het
Zfpm1	G	A	8: 123,063,398 (GRCm39)	R819H	probably benign	Het

Other mutations in Pcdh12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Pcdh12	APN	18	38,414,510 (GRCm39)	missense	probably benign
IGL00964:Pcdh12	APN	18	38,415,784 (GRCm39)	missense	probably benign	0.27
IGL01105:Pcdh12	APN	18	38,408,400 (GRCm39)	missense	probably damaging	1.00
IGL02011:Pcdh12	APN	18	38,414,473 (GRCm39)	missense	probably damaging	1.00
IGL02234:Pcdh12	APN	18	38,416,588 (GRCm39)	missense	probably damaging	1.00
IGL02452:Pcdh12	APN	18	38,414,746 (GRCm39)	missense	probably benign	0.00
IGL03412:Pcdh12	APN	18	38,416,568 (GRCm39)	missense	probably benign	0.24
R1330:Pcdh12	UTSW	18	38,414,914 (GRCm39)	missense	probably benign	0.13
R1394:Pcdh12	UTSW	18	38,414,242 (GRCm39)	critical splice donor site	probably null
R1413:Pcdh12	UTSW	18	38,416,496 (GRCm39)	missense	probably damaging	1.00
R1993:Pcdh12	UTSW	18	38,415,196 (GRCm39)	missense	possibly damaging	0.62
R2115:Pcdh12	UTSW	18	38,417,039 (GRCm39)	missense	probably damaging	1.00
R2567:Pcdh12	UTSW	18	38,415,149 (GRCm39)	missense	probably damaging	1.00
R2926:Pcdh12	UTSW	18	38,415,443 (GRCm39)	missense	probably damaging	0.99
R3810:Pcdh12	UTSW	18	38,414,290 (GRCm39)	missense	probably damaging	1.00
R3813:Pcdh12	UTSW	18	38,416,667 (GRCm39)	nonsense	probably null
R5275:Pcdh12	UTSW	18	38,417,154 (GRCm39)	utr 5 prime	probably benign
R5400:Pcdh12	UTSW	18	38,401,951 (GRCm39)	missense	probably damaging	1.00
R5523:Pcdh12	UTSW	18	38,416,192 (GRCm39)	missense	probably damaging	1.00
R5539:Pcdh12	UTSW	18	38,414,797 (GRCm39)	missense	possibly damaging	0.77
R5604:Pcdh12	UTSW	18	38,401,935 (GRCm39)	missense	probably damaging	1.00
R6012:Pcdh12	UTSW	18	38,416,805 (GRCm39)	missense	probably damaging	1.00
R6042:Pcdh12	UTSW	18	38,414,558 (GRCm39)	missense	probably damaging	1.00
R6129:Pcdh12	UTSW	18	38,410,912 (GRCm39)	missense	probably damaging	1.00
R6239:Pcdh12	UTSW	18	38,415,454 (GRCm39)	missense	probably damaging	1.00
R6508:Pcdh12	UTSW	18	38,414,390 (GRCm39)	nonsense	probably null
R7250:Pcdh12	UTSW	18	38,415,029 (GRCm39)	missense	probably benign
R7259:Pcdh12	UTSW	18	38,414,677 (GRCm39)	missense	probably benign	0.00
R7271:Pcdh12	UTSW	18	38,416,100 (GRCm39)	missense	probably damaging	1.00
R7489:Pcdh12	UTSW	18	38,414,842 (GRCm39)	missense	possibly damaging	0.77
R8103:Pcdh12	UTSW	18	38,415,212 (GRCm39)	missense	probably damaging	1.00
R8157:Pcdh12	UTSW	18	38,415,850 (GRCm39)	missense	probably benign
R8322:Pcdh12	UTSW	18	38,414,630 (GRCm39)	nonsense	probably null
R8471:Pcdh12	UTSW	18	38,415,308 (GRCm39)	missense	probably benign	0.00
R8503:Pcdh12	UTSW	18	38,415,574 (GRCm39)	missense	possibly damaging	0.86
R8510:Pcdh12	UTSW	18	38,415,109 (GRCm39)	missense	possibly damaging	0.89
R8677:Pcdh12	UTSW	18	38,415,191 (GRCm39)	missense	probably benign	0.01
R8788:Pcdh12	UTSW	18	38,416,109 (GRCm39)	missense	probably benign	0.19
R9274:Pcdh12	UTSW	18	38,415,950 (GRCm39)	missense	probably damaging	0.98
R9639:Pcdh12	UTSW	18	38,402,032 (GRCm39)	missense	probably damaging	1.00
R9697:Pcdh12	UTSW	18	38,415,022 (GRCm39)	missense	possibly damaging	0.61
Z1177:Pcdh12	UTSW	18	38,416,045 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGAGGCATTTACAAGCACCGAAAG -3'
(R):5'- TGTTTGCCCAAGACCAAGGACC -3'

Sequencing Primer
(F):5'- CACCGAAAGGGTGGCTTTG -3'
(R):5'- GTCAATGACAATGCCCCTGTG -3'

Posted On

2013-09-03