Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Pigv'

590051

Institutional Source

Beutler Lab

Gene Symbol

Pigv

Ensembl Gene

ENSMUSG00000043257

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class V

Synonyms

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133660387-133672647 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133665451 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 136 (D136G)

Ref Sequence

ENSEMBL: ENSMUSP00000050647 (fasta)

Gene Model

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

AlphaFold

Q7TPN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062118
AA Change: D136G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050647
Gene: ENSMUSG00000043257
AA Change: D136G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,917	V161A	probably damaging	Het
Abo	T	G	2: 26,843,843	T115P	probably damaging	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Amdhd1	A	T	10: 93,534,498	Y159*	probably null	Het
BC027072	T	C	17: 71,750,885	D599G	probably damaging	Het
C77080	T	C	4: 129,221,941	T1022A	probably benign	Het
Camp	T	C	9: 109,848,393	E124G		Het
Casq2	A	G	3: 102,086,700	E21G	possibly damaging	Het
Cbln1	A	T	8: 87,471,729	F116Y	probably damaging	Het
Cklf	A	T	8: 104,263,364	K143*	probably null	Het
Clca3a1	A	G	3: 144,751,962	I387T	probably damaging	Het
Cndp1	T	A	18: 84,636,049	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,327,473	M317K	possibly damaging	Het
D13Ertd608e	A	T	13: 119,842,688		probably null	Het
Dmxl2	A	T	9: 54,457,794	I138K	unknown	Het
Eapp	A	G	12: 54,673,723	S236P	probably benign	Het
Efnb3	T	C	11: 69,557,220	H132R	possibly damaging	Het
Fbn2	A	T	18: 58,105,136	N596K	probably damaging	Het
Fzd9	A	G	5: 135,250,630	W134R	probably damaging	Het
Gga2	A	G	7: 122,003,934	S180P	probably damaging	Het
Gm11639	T	A	11: 105,036,799	M4798K	probably benign	Het
Gm30302	G	T	13: 49,786,975	Q420K	probably benign	Het
Golga3	A	G	5: 110,205,828	T911A	probably benign	Het
Gstm1	C	T	3: 108,014,550		probably null	Het
Heg1	A	G	16: 33,727,497	T909A	probably damaging	Het
Herc2	C	T	7: 56,220,525	R4349W	probably damaging	Het
Herc2	T	C	7: 56,157,438	S2455P	probably benign	Het
Hivep2	T	G	10: 14,143,851	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,657,391		probably null	Het
Kbtbd13	G	T	9: 65,391,323	C110*	probably null	Het
Krt78	T	C	15: 101,950,883	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,398,169	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,477,008		probably null	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lrrc71	C	A	3: 87,741,806	G352W	probably damaging	Het
Map3k9	A	G	12: 81,724,732	V694A	probably benign	Het
Mboat2	T	C	12: 24,939,326	S162P	probably damaging	Het
Megf11	C	A	9: 64,679,253	N422K	probably damaging	Het
Miga1	C	T	3: 152,276,687	S584N	probably benign	Het
Mindy2	A	G	9: 70,616,859	Y403H	probably damaging	Het
Mmd	C	T	11: 90,276,757	A204V	possibly damaging	Het
Mta3	A	T	17: 83,800,143	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,722,798	S43F	probably benign	Het
Nphp4	T	C	4: 152,554,534	V874A	probably benign	Het
Nsd1	A	G	13: 55,312,328	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,314,796	H302R	probably benign	Het
Odc1	A	G	12: 17,550,002	Y389C	probably damaging	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr551	A	G	7: 102,587,918	I275T	probably damaging	Het
Olfr970	T	G	9: 39,819,893	F85V	probably damaging	Het
Pcdhb10	A	C	18: 37,412,312	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,317,828	C182G	probably damaging	Het
Pramel5	T	C	4: 144,271,440	E411G	possibly damaging	Het
Prkce	T	C	17: 86,168,600	V3A	probably benign	Het
Pth1r	T	C	9: 110,722,393	N546S	probably benign	Het
Qrich2	C	T	11: 116,455,322	V1559I	probably benign	Het
Rbm20	A	C	19: 53,814,333	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,150,848	D393N	probably damaging	Het
Sf3b3	G	A	8: 110,820,813	R728C	probably damaging	Het
Srcap	A	G	7: 127,538,748	N1090S	probably benign	Het
Syt4	A	T	18: 31,443,822	S160T	probably benign	Het
Tfap2e	C	T	4: 126,721,934	V236M	probably damaging	Het
Thsd4	G	A	9: 60,394,472	T180M	probably damaging	Het
Tlr4	T	A	4: 66,840,206	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883	H136L	probably benign	Het
Tnpo2	T	A	8: 85,044,415	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,033,413	M111V	probably benign	Het
Tubb3	A	T	8: 123,421,161	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,418,499	S334P	probably damaging	Het
Vps13c	A	G	9: 67,945,509	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,455,910	Y125H	probably benign	Het
Zfp747	A	T	7: 127,374,647	M117K	probably benign	Het
Znrd1	A	C	17: 36,957,830		probably null	Het
Zscan4c	A	T	7: 11,009,731	N419I	possibly damaging	Het

Other mutations in Pigv

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01878:Pigv	APN	4	133665117	missense	probably benign	0.01
IGL03157:Pigv	APN	4	133665530	missense	probably benign	0.01
R0256:Pigv	UTSW	4	133665751	missense	probably damaging	1.00
R0925:Pigv	UTSW	4	133662649	missense	probably benign	0.05
R1733:Pigv	UTSW	4	133664926	missense	probably damaging	1.00
R2014:Pigv	UTSW	4	133662723	missense	possibly damaging	0.55
R3794:Pigv	UTSW	4	133665191	missense	possibly damaging	0.94
R3795:Pigv	UTSW	4	133665191	missense	possibly damaging	0.94
R4349:Pigv	UTSW	4	133664816	missense	probably benign
R5729:Pigv	UTSW	4	133664823	nonsense	probably null
R6014:Pigv	UTSW	4	133665429	missense	probably benign	0.00
R6343:Pigv	UTSW	4	133665236	missense	probably damaging	1.00
R6885:Pigv	UTSW	4	133665481	missense	probably damaging	0.99
R8720:Pigv	UTSW	4	133665657	missense	probably damaging	1.00
R9112:Pigv	UTSW	4	133664768	missense	probably benign
R9203:Pigv	UTSW	4	133665679	missense	probably damaging	1.00
R9262:Pigv	UTSW	4	133669799	missense	possibly damaging	0.84
R9282:Pigv	UTSW	4	133664662	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAAAAGCCTCTGCACTGG -3'
(R):5'- CGGCTACCTTTATGAGCACAAC -3'

Sequencing Primer
(F):5'- TCACCAGCCCATTGGAGC -3'
(R):5'- GGCTACCTTTATGAGCACAACTTTGC -3'

Posted On

2019-10-24