Mutagenetix > Incidental Mutation

Incidental Mutation 'R9701:Gnpat'

729577

Institutional Source

Beutler Lab

Gene Symbol

Gnpat

Ensembl Gene

ENSMUSG00000031985

Gene Name

glyceronephosphate O-acyltransferase

Synonyms

D1Ertd819e

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

R9701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125589772-125616796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125613678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 642 (K642E)

Ref Sequence

ENSEMBL: ENSMUSP00000034466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034466] [ENSMUST00000161986]

AlphaFold

P98192

Predicted Effect

probably benign
Transcript: ENSMUST00000034466
AA Change: K642E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000034466
Gene: ENSMUSG00000031985
AA Change: K642E

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
SCOP:d1dbha1	27	146	6e-3	SMART
PlsC	155	284	8.3e-21	SMART
Blast:PlsC	308	336	1e-6	BLAST
low complexity region	638	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161986

SMART Domains

Protein: ENSMUSP00000125323
Gene: ENSMUSG00000031985

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
PlsC	145	274	8.3e-21	SMART
Blast:PlsC	298	326	2e-6	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,786,054 (GRCm39)	D673G	probably benign	Het
Alg8	T	A	7: 97,027,486 (GRCm39)	V118E	possibly damaging	Het
Ap4e1	T	C	2: 126,875,563 (GRCm39)	V218A	probably benign	Het
Armc12	A	T	17: 28,751,375 (GRCm39)	D123V	probably damaging	Het
Bltp3b	G	A	10: 89,615,755 (GRCm39)	V133I	probably benign	Het
Bms1	T	A	6: 118,368,147 (GRCm39)	K1039I	probably damaging	Het
Col4a2	A	G	8: 11,493,104 (GRCm39)	N1299S	probably benign	Het
Cux1	T	C	5: 136,343,169 (GRCm39)	D405G	probably damaging	Het
Cwf19l2	A	T	9: 3,430,454 (GRCm39)	Q262L	probably damaging	Het
Dclk3	A	G	9: 111,298,244 (GRCm39)	D596G	probably damaging	Het
Dnah7a	A	T	1: 53,561,388 (GRCm39)	C2090S	probably benign	Het
Dock7	T	C	4: 98,846,384 (GRCm39)	D1749G	unknown	Het
Dock9	A	T	14: 121,876,983 (GRCm39)	C463S	probably benign	Het
Dyrk1b	G	A	7: 27,885,838 (GRCm39)	R548Q	probably damaging	Het
Egr1	T	C	18: 34,995,674 (GRCm39)	F152S	probably damaging	Het
Eln	C	A	5: 134,744,559 (GRCm39)	A479S	unknown	Het
Gm973	T	A	1: 59,566,032 (GRCm39)	W84R	possibly damaging	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gpx6	A	T	13: 21,501,777 (GRCm39)	Q133L	probably benign	Het
Gzmn	T	C	14: 56,405,310 (GRCm39)	Y58C	probably benign	Het
Hcfc2	G	T	10: 82,574,269 (GRCm39)	G148*	probably null	Het
Hspa5	C	T	2: 34,664,649 (GRCm39)	R368*	probably null	Het
Igkv3-10	T	C	6: 70,550,001 (GRCm39)	V49A	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Jmjd1c	A	T	10: 67,060,745 (GRCm39)	I852F	possibly damaging	Het
Lhx5	T	A	5: 120,572,663 (GRCm39)	V94E	possibly damaging	Het
Map1s	C	T	8: 71,369,712 (GRCm39)	T928I	possibly damaging	Het
Mib1	T	A	18: 10,798,494 (GRCm39)	L785H	probably damaging	Het
Mrgpra6	C	T	7: 46,835,533 (GRCm39)	R296K	probably benign	Het
Mrpl9	A	G	3: 94,351,892 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,676,485 (GRCm39)	S486G	probably benign	Het
Naa15	T	A	3: 51,349,370 (GRCm39)	Y96*	probably null	Het
Nlrp1a	T	C	11: 70,987,946 (GRCm39)	S1175G	probably benign	Het
Nup153	A	T	13: 46,840,211 (GRCm39)	D1132E	probably benign	Het
Nxf1	G	A	19: 8,739,772 (GRCm39)	G42D	probably damaging	Het
Or13j1	C	A	4: 43,705,793 (GRCm39)	M258I	probably benign	Het
Plekhg6	C	T	6: 125,347,602 (GRCm39)	V451I	probably benign	Het
Prkab1	T	C	5: 116,162,274 (GRCm39)	E12G	probably benign	Het
Ptprd	A	G	4: 75,916,896 (GRCm39)	Y752H	probably damaging	Het
Rbm12	A	G	2: 155,938,166 (GRCm39)	I702T	probably benign	Het
Rnf212	A	G	5: 108,922,738 (GRCm39)		probably null	Het
Sall3	C	A	18: 81,017,443 (GRCm39)	A162S	probably benign	Het
Sec24d	T	C	3: 123,063,321 (GRCm39)	S13P	probably damaging	Het
Serpina16	T	C	12: 103,638,873 (GRCm39)	Q238R	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skint3	T	A	4: 112,111,094 (GRCm39)	V73E	probably damaging	Het
Slc6a20a	T	A	9: 123,489,585 (GRCm39)	T153S	probably damaging	Het
Slc6a6	T	C	6: 91,700,478 (GRCm39)	Y69H	probably damaging	Het
Sorl1	A	G	9: 42,003,766 (GRCm39)	Y177H	probably damaging	Het
Srbd1	T	C	17: 86,433,559 (GRCm39)	Y346C	probably damaging	Het
Syne2	A	G	12: 76,037,197 (GRCm39)	E3792G	probably damaging	Het
Tg	C	G	15: 66,637,991 (GRCm39)	T2268S	probably benign	Het
Thbs1	A	G	2: 117,950,716 (GRCm39)	N721S	probably benign	Het
Treh	A	G	9: 44,594,648 (GRCm39)	Y275C	probably damaging	Het
Trpv5	G	T	6: 41,651,594 (GRCm39)	H195N	possibly damaging	Het
Tshz1	A	G	18: 84,032,579 (GRCm39)	S610P	possibly damaging	Het
Ttll4	A	G	1: 74,720,482 (GRCm39)	N499S	probably benign	Het
Ttn	G	T	2: 76,748,927 (GRCm39)	H4041N	probably benign	Het
Ubtf	A	G	11: 102,199,718 (GRCm39)		probably null	Het
Urod	C	T	4: 116,849,778 (GRCm39)	V207M	probably damaging	Het
Vegfa	G	A	17: 46,342,713 (GRCm39)	P35L	probably damaging	Het
Zc3h7b	C	T	15: 81,676,505 (GRCm39)	P749L	probably damaging	Het

Other mutations in Gnpat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Gnpat	APN	8	125,603,653 (GRCm39)	splice site	probably benign
IGL00422:Gnpat	APN	8	125,611,752 (GRCm39)	missense	probably damaging	1.00
IGL01327:Gnpat	APN	8	125,605,372 (GRCm39)	missense	probably damaging	1.00
IGL02257:Gnpat	APN	8	125,613,587 (GRCm39)	unclassified	probably benign
IGL02951:Gnpat	APN	8	125,597,644 (GRCm39)	missense	probably benign	0.01
IGL03084:Gnpat	APN	8	125,605,638 (GRCm39)	missense	probably damaging	0.99
R0114:Gnpat	UTSW	8	125,610,096 (GRCm39)	missense	probably benign	0.06
R0394:Gnpat	UTSW	8	125,606,964 (GRCm39)	missense	possibly damaging	0.82
R1023:Gnpat	UTSW	8	125,597,519 (GRCm39)	missense	probably benign	0.28
R1052:Gnpat	UTSW	8	125,605,255 (GRCm39)	missense	probably damaging	1.00
R1052:Gnpat	UTSW	8	125,604,246 (GRCm39)	missense	probably benign	0.00
R1537:Gnpat	UTSW	8	125,597,555 (GRCm39)	missense	probably damaging	0.97
R1604:Gnpat	UTSW	8	125,603,700 (GRCm39)	missense	probably damaging	1.00
R1711:Gnpat	UTSW	8	125,613,691 (GRCm39)	splice site	probably null
R1754:Gnpat	UTSW	8	125,603,745 (GRCm39)	missense	probably damaging	1.00
R2118:Gnpat	UTSW	8	125,603,680 (GRCm39)	missense	probably damaging	0.99
R2278:Gnpat	UTSW	8	125,603,659 (GRCm39)	missense	probably benign	0.35
R2429:Gnpat	UTSW	8	125,603,758 (GRCm39)	missense	probably damaging	1.00
R4579:Gnpat	UTSW	8	125,605,241 (GRCm39)	splice site	probably null
R6176:Gnpat	UTSW	8	125,605,593 (GRCm39)	missense	probably damaging	1.00
R7017:Gnpat	UTSW	8	125,590,014 (GRCm39)	missense	probably benign	0.33
R7081:Gnpat	UTSW	8	125,590,008 (GRCm39)	missense	possibly damaging	0.53
R7388:Gnpat	UTSW	8	125,614,553 (GRCm39)	missense	probably benign	0.32
R7716:Gnpat	UTSW	8	125,603,673 (GRCm39)	missense	probably benign	0.32
R7848:Gnpat	UTSW	8	125,613,630 (GRCm39)	missense	possibly damaging	0.89
R8169:Gnpat	UTSW	8	125,606,869 (GRCm39)	missense	probably benign	0.02
R8355:Gnpat	UTSW	8	125,597,579 (GRCm39)	missense	probably benign	0.11
R8363:Gnpat	UTSW	8	125,590,038 (GRCm39)	missense	probably benign	0.28
R8851:Gnpat	UTSW	8	125,601,004 (GRCm39)	missense	probably damaging	1.00
R9234:Gnpat	UTSW	8	125,610,179 (GRCm39)	missense	probably damaging	1.00
R9276:Gnpat	UTSW	8	125,614,524 (GRCm39)	missense	probably benign	0.45
X0025:Gnpat	UTSW	8	125,600,138 (GRCm39)	missense	probably null	0.99
Z1177:Gnpat	UTSW	8	125,590,035 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CTGGATCAAGGTCAGCCATC -3'
(R):5'- TGTCTCTGTCCATAGTGCATGC -3'

Sequencing Primer
(F):5'- GATCAAGGTCAGCCATCCTCTG -3'
(R):5'- GTGCATGCACACCCACATTAC -3'

Posted On

2022-10-06