Mutagenetix > Incidental Mutation

Incidental Mutation 'R6343:Pigv'

513990

Institutional Source

Beutler Lab

Gene Symbol

Pigv

Ensembl Gene

ENSMUSG00000043257

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class V

Synonyms

D430024F16Rik

MMRRC Submission

044497-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R6343 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133387698-133399958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133392547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 208 (V208M)

Ref Sequence

ENSEMBL: ENSMUSP00000050647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062118] [ENSMUST00000067902]

AlphaFold

Q7TPN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000062118
AA Change: V208M

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

SMART Domains

Protein: ENSMUSP00000050647
Gene: ENSMUSG00000043257
AA Change: V208M

Domain	Start	End	E-Value	Type
Pfam:Mannosyl_trans2	8	493	6.4e-180	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067902

SMART Domains

Protein: ENSMUSP00000065601
Gene: ENSMUSG00000043257

Domain	Start	End	E-Value	Type
Pfam:Mannosyl_trans2	10	119	2.7e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151837

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy, are runted, have thymus hypoplasia and show craniofacial and kidney defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,205,378 (GRCm39)	L301Q	probably damaging	Het
Adgrl4	T	C	3: 151,223,443 (GRCm39)	L632P	probably damaging	Het
Cacna2d1	T	A	5: 16,527,562 (GRCm39)	I539N	probably benign	Het
Camta1	T	A	4: 151,164,306 (GRCm39)	H314L	probably damaging	Het
Car2	T	C	3: 14,953,025 (GRCm39)	S56P	probably damaging	Het
Chrm5	G	A	2: 112,309,793 (GRCm39)	A441V	probably damaging	Het
Ckap5	T	A	2: 91,426,819 (GRCm39)	N1380K	possibly damaging	Het
Cspg4	T	C	9: 56,799,976 (GRCm39)	V1580A	probably benign	Het
Dcc	A	G	18: 71,469,106 (GRCm39)	L1099P	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epha5	A	T	5: 84,254,606 (GRCm39)	H644Q	probably damaging	Het
Eya3	T	C	4: 132,400,221 (GRCm39)	I80T	probably damaging	Het
Fdft1	A	T	14: 63,388,721 (GRCm39)	Y304N	probably damaging	Het
Fiz1	C	T	7: 5,011,400 (GRCm39)	A373T	possibly damaging	Het
Gpatch2l	T	A	12: 86,307,379 (GRCm39)	Y252*	probably null	Het
Hivep1	G	T	13: 42,313,147 (GRCm39)	G1796*	probably null	Het
Irf8	T	C	8: 121,480,446 (GRCm39)	V228A	probably damaging	Het
Islr	A	C	9: 58,064,379 (GRCm39)	V376G	probably damaging	Het
Kdm5a	T	C	6: 120,359,894 (GRCm39)	V230A	probably benign	Het
Lpgat1	A	G	1: 191,508,684 (GRCm39)		probably null	Het
Lrp8	T	C	4: 107,726,353 (GRCm39)		probably null	Het
Lyzl4	A	C	9: 121,407,150 (GRCm39)	S127A	possibly damaging	Het
Map4k1	T	C	7: 28,699,715 (GRCm39)	V606A	possibly damaging	Het
Mau2	T	A	8: 70,484,173 (GRCm39)	K138N	probably damaging	Het
Meikin	T	C	11: 54,261,592 (GRCm39)	L33P	probably damaging	Het
Mrpl28	T	C	17: 26,345,252 (GRCm39)	V224A	probably benign	Het
Ncdn	T	C	4: 126,640,964 (GRCm39)	D512G	possibly damaging	Het
Nlrp2	T	A	7: 5,303,925 (GRCm39)	Q200L	possibly damaging	Het
Nup98	T	C	7: 101,843,957 (GRCm39)	N89S	possibly damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or14a258	T	A	7: 86,035,059 (GRCm39)	R270*	probably null	Het
Or52p2	A	G	7: 102,237,753 (GRCm39)	C66R	probably damaging	Het
Or5b12	G	T	19: 12,896,946 (GRCm39)	H242Q	probably damaging	Het
Or6c201	A	T	10: 128,969,535 (GRCm39)	L34*	probably null	Het
Padi3	C	T	4: 140,530,819 (GRCm39)	V68I	possibly damaging	Het
Pign	A	T	1: 105,512,820 (GRCm39)	M621K	probably benign	Het
Ripk4	A	G	16: 97,564,726 (GRCm39)		probably benign	Het
Rsf1	A	G	7: 97,310,124 (GRCm39)	K285E	probably benign	Het
Serpina3k	G	C	12: 104,311,562 (GRCm39)	G380A	probably benign	Het
Sorbs1	A	G	19: 40,365,426 (GRCm39)		probably null	Het
Srrd	G	C	5: 112,487,866 (GRCm39)	A104G	probably benign	Het
Tbp	T	A	17: 15,721,351 (GRCm39)		probably null	Het
Tecrl	G	A	5: 83,442,447 (GRCm39)	H209Y	probably damaging	Het
Tmprss11c	A	G	5: 86,404,204 (GRCm39)	L157P	probably damaging	Het
Tmprss13	A	T	9: 45,254,498 (GRCm39)	T422S	possibly damaging	Het
Ttll5	A	G	12: 86,003,473 (GRCm39)	H1103R	probably benign	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Vldlr	A	G	19: 27,223,049 (GRCm39)	Y699C	probably damaging	Het
Vmn1r22	T	G	6: 57,877,563 (GRCm39)	N138T	possibly damaging	Het

Other mutations in Pigv

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01878:Pigv	APN	4	133,392,428 (GRCm39)	missense	probably benign	0.01
IGL03157:Pigv	APN	4	133,392,841 (GRCm39)	missense	probably benign	0.01
R0256:Pigv	UTSW	4	133,393,062 (GRCm39)	missense	probably damaging	1.00
R0925:Pigv	UTSW	4	133,389,960 (GRCm39)	missense	probably benign	0.05
R1733:Pigv	UTSW	4	133,392,237 (GRCm39)	missense	probably damaging	1.00
R2014:Pigv	UTSW	4	133,390,034 (GRCm39)	missense	possibly damaging	0.55
R3794:Pigv	UTSW	4	133,392,502 (GRCm39)	missense	possibly damaging	0.94
R3795:Pigv	UTSW	4	133,392,502 (GRCm39)	missense	possibly damaging	0.94
R4349:Pigv	UTSW	4	133,392,127 (GRCm39)	missense	probably benign
R5729:Pigv	UTSW	4	133,392,134 (GRCm39)	nonsense	probably null
R6014:Pigv	UTSW	4	133,392,740 (GRCm39)	missense	probably benign	0.00
R6885:Pigv	UTSW	4	133,392,792 (GRCm39)	missense	probably damaging	0.99
R7638:Pigv	UTSW	4	133,392,762 (GRCm39)	missense	possibly damaging	0.46
R8720:Pigv	UTSW	4	133,392,968 (GRCm39)	missense	probably damaging	1.00
R9112:Pigv	UTSW	4	133,392,079 (GRCm39)	missense	probably benign
R9203:Pigv	UTSW	4	133,392,990 (GRCm39)	missense	probably damaging	1.00
R9262:Pigv	UTSW	4	133,397,110 (GRCm39)	missense	possibly damaging	0.84
R9282:Pigv	UTSW	4	133,391,973 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAACTGGATGTAGGCACG -3'
(R):5'- CAGTGGCACTCCATGACTTG -3'

Sequencing Primer
(F):5'- CTGGATGTAGGCACGATACTG -3'
(R):5'- GCACTCCATGACTTGGGTTGTC -3'

Posted On

2018-04-27