Mutagenetix > Incidental Mutation

Incidental Mutation 'R7259:Pcdh12'

564508

Institutional Source

Beutler Lab

Gene Symbol

Pcdh12

Ensembl Gene

ENSMUSG00000024440

Gene Name

protocadherin 12

Synonyms

VE-cadherin-2, vascular endothelial cadherin-2

MMRRC Submission

045351-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38400145-38417454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38414677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 816 (F816Y)

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: F816Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000025311
Gene: ENSMUSG00000024440
AA Change: F816Y

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

probably benign
Transcript: ENSMUST00000194012

SMART Domains

Protein: ENSMUSP00000141907
Gene: ENSMUSG00000024440

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

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,620,288 (GRCm39)	Y258C	probably benign	Het
Aebp2	A	G	6: 140,579,494 (GRCm39)	S244G	probably benign	Het
Agl	A	T	3: 116,578,230 (GRCm39)	Y495N	probably damaging	Het
Arhgap33	A	G	7: 30,231,625 (GRCm39)	V120A	probably damaging	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atp2a2	A	G	5: 122,604,132 (GRCm39)	Y434H	probably benign	Het
Atrnl1	C	T	19: 57,924,038 (GRCm39)	R1268*	probably null	Het
AW554918	A	G	18: 25,422,906 (GRCm39)		probably null	Het
Canx	A	G	11: 50,192,643 (GRCm39)	W324R	probably damaging	Het
Col9a1	A	G	1: 24,224,424 (GRCm39)	E202G	unknown	Het
Crh	C	A	3: 19,748,418 (GRCm39)	A75S	possibly damaging	Het
Ctnnal1	T	A	4: 56,817,299 (GRCm39)		probably null	Het
Dmrta2	T	A	4: 109,839,104 (GRCm39)	S284T	possibly damaging	Het
Dock1	T	C	7: 134,384,477 (GRCm39)	V680A	probably damaging	Het
Duox2	G	A	2: 122,125,657 (GRCm39)	R317C	probably damaging	Het
Elmod2	A	G	8: 84,048,138 (GRCm39)	L108P	probably damaging	Het
Exoc6b	A	G	6: 84,825,792 (GRCm39)	S540P	probably benign	Het
Fsip2	C	T	2: 82,812,474 (GRCm39)	A2931V	possibly damaging	Het
Gipc2	A	T	3: 151,833,693 (GRCm39)	I196K	probably damaging	Het
Gli2	A	G	1: 118,764,264 (GRCm39)	S1296P	probably benign	Het
Gm21103	T	A	14: 17,482,882 (GRCm39)	Q173L	probably damaging	Het
Gpatch1	A	T	7: 34,986,546 (GRCm39)		probably null	Het
Grm8	G	A	6: 27,760,175 (GRCm39)	T385I	probably null	Het
Gtf2f1	C	A	17: 57,311,562 (GRCm39)	D283Y	probably damaging	Het
Hcar1	T	A	5: 124,017,275 (GRCm39)	T139S	possibly damaging	Het
Hcrtr1	T	A	4: 130,029,611 (GRCm39)	T157S	possibly damaging	Het
Htra2	T	G	6: 83,028,520 (GRCm39)	Q436P	possibly damaging	Het
Igkv1-133	A	G	6: 67,702,522 (GRCm39)	D80G	probably benign	Het
Il21	C	A	3: 37,281,803 (GRCm39)		probably null	Het
Inpp5f	T	A	7: 128,271,681 (GRCm39)	C359S	probably benign	Het
Itgb6	A	T	2: 60,480,355 (GRCm39)	I327N	probably damaging	Het
Itgbl1	A	T	14: 124,081,316 (GRCm39)	T232S	probably damaging	Het
Kif1a	T	A	1: 93,001,532 (GRCm39)	K266*	probably null	Het
Mcm10	C	A	2: 5,011,328 (GRCm39)	E214D	probably benign	Het
Mefv	T	A	16: 3,530,917 (GRCm39)	I522F	probably damaging	Het
Naaladl2	T	A	3: 24,112,340 (GRCm39)	I581F	possibly damaging	Het
Naip6	A	T	13: 100,440,863 (GRCm39)	Y306N	probably damaging	Het
Opn1sw	T	A	6: 29,378,911 (GRCm39)	H247L	probably benign	Het
Or4c119	A	C	2: 88,986,854 (GRCm39)	F222V	probably benign	Het
Or51v15-ps1	A	T	7: 103,278,966 (GRCm39)	M67K	probably damaging	Het
Or5k1b	T	C	16: 58,580,868 (GRCm39)	T224A	possibly damaging	Het
Or6c68	T	A	10: 129,157,663 (GRCm39)	M57K	probably benign	Het
Pbxip1	C	A	3: 89,352,940 (GRCm39)	F195L	probably benign	Het
Pi4k2b	C	A	5: 52,910,587 (GRCm39)	N290K	probably damaging	Het
Pias2	T	C	18: 77,240,416 (GRCm39)	S598P	possibly damaging	Het
Ppfia4	A	G	1: 134,240,838 (GRCm39)	V835A	probably damaging	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Scg2	T	C	1: 79,414,702 (GRCm39)	Y7C	probably benign	Het
Sec16a	A	G	2: 26,331,604 (GRCm39)	V137A	probably benign	Het
Setdb1	G	A	3: 95,247,224 (GRCm39)	T525I	probably benign	Het
Sgcg	A	T	14: 61,462,666 (GRCm39)	I227N	probably benign	Het
Slc35e4	A	T	11: 3,862,530 (GRCm39)		probably null	Het
Smarca2	C	T	19: 26,631,864 (GRCm39)	Q560*	probably null	Het
Stk10	A	G	11: 32,548,497 (GRCm39)	N355S	probably benign	Het
Supt6	A	T	11: 78,098,442 (GRCm39)	D1716E	probably damaging	Het
Taok3	C	T	5: 117,390,608 (GRCm39)	A523V	probably benign	Het
Tekt3	A	G	11: 62,974,592 (GRCm39)	T304A	possibly damaging	Het
Ttc6	G	T	12: 57,622,970 (GRCm39)	R123L	probably benign	Het
Tyw1	T	A	5: 130,296,713 (GRCm39)		probably null	Het
Ulk2	A	G	11: 61,672,909 (GRCm39)	L895P	probably damaging	Het
Unc13c	A	T	9: 73,424,645 (GRCm39)	N1990K	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wipf1	A	G	2: 73,265,425 (GRCm39)	S393P	probably damaging	Het
Yju2b	T	C	8: 84,986,946 (GRCm39)	S184G	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
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
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'- CCTTCAGAGGCCTTAAGAGTG -3'
(R):5'- GCCTACAACTGTCGAGAAGCTG -3'

Sequencing Primer
(F):5'- CCTTAAGAGTGGTTGGCGTACAG -3'
(R):5'- CTGTCGAGAAGCTGAGTCGTCATAC -3'

Posted On

2019-06-26