Mutagenetix > Incidental Mutation

Incidental Mutation 'R2567:Pcdh12'

254592

Institutional Source

Beutler Lab

Gene Symbol

Pcdh12

Ensembl Gene

ENSMUSG00000024440

Gene Name

protocadherin 12

Synonyms

VE-cadherin-2, vascular endothelial cadherin-2

MMRRC Submission

040426-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38400145-38417454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38415149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 659 (N659Y)

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: N659Y

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

SMART Domains

Protein: ENSMUSP00000025311
Gene: ENSMUSG00000024440
AA Change: N659Y

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,836,475 (GRCm39)		probably benign	Het
Aebp1	A	G	11: 5,820,251 (GRCm39)	D409G	probably benign	Het
Akap10	A	G	11: 61,784,175 (GRCm39)		probably benign	Het
Akap6	G	T	12: 52,985,156 (GRCm39)	S863I	probably damaging	Het
Ap1s3	T	C	1: 79,602,921 (GRCm39)	K29E	possibly damaging	Het
Atm	T	A	9: 53,368,770 (GRCm39)	I2341L	possibly damaging	Het
Atp12a	A	T	14: 56,624,384 (GRCm39)	D944V	probably damaging	Het
Baz2b	A	T	2: 59,744,255 (GRCm39)	S1417T	possibly damaging	Het
Cacna1a	T	A	8: 85,276,354 (GRCm39)	M613K	probably damaging	Het
Ccdc191	A	C	16: 43,764,330 (GRCm39)		probably null	Het
Cd209d	T	A	8: 3,926,327 (GRCm39)	N96I	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdk4	T	G	10: 126,900,145 (GRCm39)	V14G	probably benign	Het
Chrna10	C	A	7: 101,761,276 (GRCm39)	M438I	probably benign	Het
Clec10a	T	C	11: 70,060,358 (GRCm39)		probably null	Het
Cog3	A	G	14: 75,991,730 (GRCm39)	V40A	probably benign	Het
Creb3l3	T	C	10: 80,921,883 (GRCm39)	H315R	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,283,167 (GRCm39)		probably null	Het
Cygb	T	C	11: 116,540,692 (GRCm39)	D98G	probably damaging	Het
Dmbx1	T	C	4: 115,777,489 (GRCm39)	K120E	probably damaging	Het
Dnah3	T	A	7: 119,551,920 (GRCm39)	I2800F	possibly damaging	Het
Dntt	G	T	19: 41,029,775 (GRCm39)	R245L	possibly damaging	Het
Dock1	T	G	7: 134,747,213 (GRCm39)	V1508G	probably damaging	Het
Enpp4	A	C	17: 44,412,736 (GRCm39)	I266R	probably damaging	Het
Fhl4	T	C	10: 84,934,644 (GRCm39)	I46V	possibly damaging	Het
Fn1	G	A	1: 71,636,895 (GRCm39)	Q1995*	probably null	Het
Foxl3	A	G	5: 138,805,940 (GRCm39)	S36G	probably null	Het
Foxo1	T	A	3: 52,176,755 (GRCm39)	L178H	probably damaging	Het
Galnt18	C	T	7: 111,153,823 (GRCm39)	R267H	probably damaging	Het
Gm1110	T	C	9: 26,831,992 (GRCm39)	D53G	probably benign	Het
Gm7104	A	T	12: 88,252,242 (GRCm39)		noncoding transcript	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Haus6	C	A	4: 86,504,122 (GRCm39)	E501*	probably null	Het
Ifna5	T	C	4: 88,754,147 (GRCm39)	V129A	probably benign	Het
Kdelr3	A	G	15: 79,407,032 (GRCm39)	I38V	probably benign	Het
Lamb1	A	G	12: 31,319,054 (GRCm39)		probably null	Het
Larp7-ps	T	C	4: 92,079,560 (GRCm39)	E87G	probably benign	Het
Mgat4c	T	A	10: 102,214,123 (GRCm39)	F35L	probably benign	Het
Mmab	A	T	5: 114,571,378 (GRCm39)	M166K	probably benign	Het
Mrpl2	A	G	17: 46,958,427 (GRCm39)	T70A	probably benign	Het
Naa11	C	T	5: 97,539,618 (GRCm39)	G180D	probably benign	Het
Npy6r	T	C	18: 44,408,888 (GRCm39)	V103A	possibly damaging	Het
Nup188	A	T	2: 30,231,794 (GRCm39)	R1463W	possibly damaging	Het
Nusap1	T	A	2: 119,474,311 (GRCm39)	S336R	possibly damaging	Het
Or8b12c	T	A	9: 37,715,509 (GRCm39)	F101I	probably damaging	Het
Pabpc4	T	A	4: 123,191,744 (GRCm39)	L589Q	probably damaging	Het
Perm1	T	C	4: 156,301,575 (GRCm39)	S40P	probably damaging	Het
Phldb1	T	C	9: 44,637,322 (GRCm39)	T114A	probably damaging	Het
Pirt	C	T	11: 66,816,985 (GRCm39)	L99F	probably damaging	Het
Plxdc2	A	G	2: 16,716,995 (GRCm39)	R360G	probably benign	Het
Rhpn2	G	A	7: 35,080,957 (GRCm39)		probably null	Het
Rpusd2	T	A	2: 118,867,556 (GRCm39)	I268N	probably damaging	Het
Sds	G	T	5: 120,619,646 (GRCm39)	W185L	probably damaging	Het
Serpinb5	A	G	1: 106,802,876 (GRCm39)	K137R	probably benign	Het
Sh3pxd2a	A	G	19: 47,413,008 (GRCm39)	V25A	possibly damaging	Het
Slc1a2	C	T	2: 102,597,355 (GRCm39)	T454I	probably damaging	Het
Slc25a40	T	C	5: 8,480,459 (GRCm39)	C70R	probably damaging	Het
Smoc1	G	A	12: 81,214,364 (GRCm39)	E260K	probably damaging	Het
Sparcl1	A	T	5: 104,232,954 (GRCm39)	F616I	probably damaging	Het
Ssc5d	A	T	7: 4,939,334 (GRCm39)	D590V	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm2	C	T	10: 77,777,008 (GRCm39)	V430M	probably damaging	Het
Ttn	T	C	2: 76,574,672 (GRCm39)	D25407G	probably damaging	Het
Vmn2r68	T	C	7: 84,883,803 (GRCm39)	I101V	probably benign	Het
Xrcc4	A	T	13: 90,210,261 (GRCm39)	M61K	probably damaging	Het
Zfp648	A	G	1: 154,080,695 (GRCm39)	T285A	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
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'- AAGATGGCCAGCAGTACAGC -3'
(R):5'- GAATCCCAGTGGCATGGATC -3'

Sequencing Primer
(F):5'- GCAGTACAGCCAGGCAGATC -3'
(R):5'- TGGCATGGATCCAGCAGGTAC -3'

Posted On

2014-12-04