Mutagenetix > Incidental Mutation

Incidental Mutation 'R1413:Pcdh12'

159727

Institutional Source

Beutler Lab

Gene Symbol

Pcdh12

Ensembl Gene

ENSMUSG00000024440

Gene Name

protocadherin 12

Synonyms

VE-cadherin-2, vascular endothelial cadherin-2

MMRRC Submission

039469-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38400145-38417454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38416496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 210 (F210I)

Ref Sequence

ENSEMBL: ENSMUSP00000025311 (fasta)

Gene Model

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

AlphaFold

O55134

Predicted Effect

probably damaging
Transcript: ENSMUST00000025311
AA Change: F210I

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

SMART Domains

Protein: ENSMUSP00000025311
Gene: ENSMUSG00000024440
AA Change: F210I

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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,573,245 (GRCm39)	N1051D	possibly damaging	Het
Abcc9	A	G	6: 142,536,222 (GRCm39)	V1504A	probably damaging	Het
Actr6	A	T	10: 89,564,019 (GRCm39)	Y84*	probably null	Het
Adgrl3	T	C	5: 81,841,366 (GRCm39)	Y816H	probably damaging	Het
Ahcyl2	T	C	6: 29,768,586 (GRCm39)		probably benign	Het
Amd1	A	T	10: 40,166,404 (GRCm39)	C157*	probably null	Het
Ank1	G	A	8: 23,609,393 (GRCm39)	E1362K	probably damaging	Het
Atp10b	A	G	11: 43,121,391 (GRCm39)	Q1018R	probably benign	Het
Atp1a2	G	A	1: 172,106,911 (GRCm39)	T803I	probably damaging	Het
Atr	T	G	9: 95,814,495 (GRCm39)	L2064R	probably damaging	Het
Bmp3	T	A	5: 99,020,264 (GRCm39)	L229Q	probably damaging	Het
Ccl25	A	G	8: 4,403,892 (GRCm39)	*54W	probably null	Het
Cdc45	A	T	16: 18,627,491 (GRCm39)	N111K	possibly damaging	Het
Cfap61	T	A	2: 145,805,363 (GRCm39)	S154T	probably benign	Het
Cyp2c37	T	A	19: 39,982,542 (GRCm39)	S127T	probably benign	Het
Cyp4f40	T	A	17: 32,892,913 (GRCm39)	D309E	probably benign	Het
D6Ertd527e	A	G	6: 87,088,335 (GRCm39)	D166G	unknown	Het
Dmbt1	T	A	7: 130,651,944 (GRCm39)	D395E	probably damaging	Het
Dnah5	A	G	15: 28,370,555 (GRCm39)	S2832G	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Fah	T	C	7: 84,242,420 (GRCm39)	D296G	probably damaging	Het
Fam83g	A	G	11: 61,593,504 (GRCm39)	N346S	probably damaging	Het
Fgl1	T	A	8: 41,644,638 (GRCm39)	T289S	possibly damaging	Het
Fmo1	A	C	1: 162,661,431 (GRCm39)	L284R	probably damaging	Het
Frem3	T	A	8: 81,395,430 (GRCm39)	M1819K	probably benign	Het
Fsip2	T	A	2: 82,818,762 (GRCm39)	L4832M	possibly damaging	Het
Fut1	T	C	7: 45,268,852 (GRCm39)	W269R	probably damaging	Het
Ggnbp2	A	G	11: 84,723,955 (GRCm39)	Y638H	probably damaging	Het
Gp2	T	A	7: 119,050,853 (GRCm39)	I293F	probably benign	Het
Gpi1	T	C	7: 33,929,580 (GRCm39)	N20S	probably benign	Het
Gxylt1	C	T	15: 93,152,273 (GRCm39)	R222H	probably damaging	Het
Hemgn	T	C	4: 46,396,091 (GRCm39)	K382E	possibly damaging	Het
Hook3	T	A	8: 26,528,134 (GRCm39)	E585D	probably damaging	Het
Irf6	G	A	1: 192,851,613 (GRCm39)	M401I	probably benign	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Lactb	T	A	9: 66,878,201 (GRCm39)	R209S	probably damaging	Het
Lonp2	A	G	8: 87,368,212 (GRCm39)	D342G	probably damaging	Het
Mmachc	T	C	4: 116,563,194 (GRCm39)	S54G	probably damaging	Het
Mpp7	C	A	18: 7,350,977 (GRCm39)	W573C	probably damaging	Het
Or13e8	T	A	4: 43,697,011 (GRCm39)	H54L	possibly damaging	Het
Or5w1b	T	A	2: 87,476,182 (GRCm39)	Y95F	probably benign	Het
Or6b2b	A	T	1: 92,418,610 (GRCm39)	I289N	probably damaging	Het
Pappa2	A	T	1: 158,764,124 (GRCm39)	D462E	probably benign	Het
Ppp1r12c	A	G	7: 4,487,443 (GRCm39)		probably null	Het
Prkce	T	A	17: 86,803,446 (GRCm39)	D448E	possibly damaging	Het
Ptprb	C	A	10: 116,175,584 (GRCm39)	T1193K	probably damaging	Het
Qrfpr	T	A	3: 36,236,809 (GRCm39)	E197D	possibly damaging	Het
Rusc2	T	A	4: 43,416,568 (GRCm39)	C625S	probably benign	Het
Shcbp1	T	G	8: 4,791,968 (GRCm39)		probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,196,143 (GRCm39)	C449*	probably null	Het
Stpg3	T	C	2: 25,103,862 (GRCm39)	D158G	probably damaging	Het
Sycp2	T	C	2: 177,989,590 (GRCm39)	Y1423C	probably benign	Het
Tiprl	C	T	1: 165,043,359 (GRCm39)	E256K	possibly damaging	Het
Tmem132c	T	A	5: 127,640,631 (GRCm39)	V934D	probably damaging	Het
Topors	A	G	4: 40,261,982 (GRCm39)	V434A	probably benign	Het
Usp11	A	G	X: 20,584,946 (GRCm39)	Y731C	probably damaging	Het
Vmn2r58	T	A	7: 41,513,387 (GRCm39)	I419L	probably benign	Het
Wfs1	C	A	5: 37,139,422 (GRCm39)	R72L	possibly damaging	Het
Zan	T	C	5: 137,426,201 (GRCm39)	D2525G	unknown	Het
Zfp280c	A	G	X: 47,652,715 (GRCm39)	V285A	probably benign	Het
Zfp511	T	A	7: 139,617,528 (GRCm39)	F177I	probably damaging	Het
Zfp964	A	G	8: 70,115,720 (GRCm39)	M107V	unknown	Het
Zmynd11	A	G	13: 9,760,256 (GRCm39)	Y122H	probably damaging	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
R0729:Pcdh12	UTSW	18	38,415,517 (GRCm39)	missense	probably benign	0.20
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
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'- GGACACATGCTTGCCAAAGAAGAAC -3'
(R):5'- TGCCTCTCTGCACACACGAATC -3'

Sequencing Primer
(F):5'- CGGGATCTGTAGCAGTCAG -3'
(R):5'- CGAATCCCCTTGGACAGAG -3'

Posted On

2014-03-14