Mutagenetix > Incidental Mutation

Incidental Mutation 'R4579:Gnpat'

343513

Institutional Source

Beutler Lab

Gene Symbol

Gnpat

Ensembl Gene

ENSMUSG00000031985

Gene Name

glyceronephosphate O-acyltransferase

Synonyms

D1Ertd819e

MMRRC Submission

041801-MU

Accession Numbers

Essential gene?

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

Stock #

R4579 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125589772-125616796 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 125605241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125323 (fasta)

Gene Model

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

AlphaFold

P98192

Predicted Effect

probably null
Transcript: ENSMUST00000034466

SMART Domains

Protein: ENSMUSP00000034466
Gene: ENSMUSG00000031985

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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162455

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (88/91)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	A	G	2: 18,031,848 (GRCm39)	I90T	probably damaging	Het
Acox3	A	G	5: 35,761,987 (GRCm39)	N444D	probably damaging	Het
Adamts16	A	G	13: 70,927,743 (GRCm39)	Y499H	probably damaging	Het
Ajm1	T	A	2: 25,469,661 (GRCm39)	R83S	possibly damaging	Het
Ank2	A	T	3: 126,752,612 (GRCm39)	V368D	probably damaging	Het
Atad5	T	C	11: 79,986,017 (GRCm39)	V368A	probably damaging	Het
Atp13a5	T	C	16: 29,067,090 (GRCm39)		probably null	Het
Bdh1	A	T	16: 31,254,954 (GRCm39)		probably benign	Het
Bmp6	A	T	13: 38,653,701 (GRCm39)	Y256F	probably damaging	Het
Bub1b	C	A	2: 118,453,657 (GRCm39)	S496*	probably null	Het
Capn15	C	T	17: 26,178,811 (GRCm39)	R1128H	probably damaging	Het
Ccnf	T	A	17: 24,450,303 (GRCm39)	R461*	probably null	Het
Col6a1	C	T	10: 76,547,191 (GRCm39)	V725I	unknown	Het
Cp	T	C	3: 20,011,599 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,430,957 (GRCm39)	V577A	probably benign	Het
Cux2	A	T	5: 121,998,716 (GRCm39)	I1408K	probably benign	Het
Cyp2c69	T	A	19: 39,869,630 (GRCm39)	T130S	possibly damaging	Het
Cyp3a57	A	G	5: 145,311,074 (GRCm39)	T278A	probably benign	Het
Dchs1	T	G	7: 105,403,972 (GRCm39)	T2857P	probably damaging	Het
Dchs1	A	G	7: 105,408,180 (GRCm39)	M1884T	probably benign	Het
Dnah3	T	C	7: 119,608,554 (GRCm39)	S1802G	probably damaging	Het
Dner	T	C	1: 84,361,537 (GRCm39)	S691G	probably damaging	Het
Dzip1l	A	T	9: 99,529,267 (GRCm39)	Q332L	probably damaging	Het
Eprs1	A	G	1: 185,133,804 (GRCm39)	Y827C	probably damaging	Het
Ermp1	A	T	19: 29,594,051 (GRCm39)	N706K	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,423 (GRCm39)	L317S	probably damaging	Het
Fam120c	G	T	X: 150,219,179 (GRCm39)	G696W	probably damaging	Het
Fance	T	A	17: 28,536,125 (GRCm39)		probably null	Het
Fancl	G	T	11: 26,418,423 (GRCm39)		probably null	Het
Fbxo30	T	A	10: 11,165,293 (GRCm39)	V5E	probably benign	Het
Foxn4	A	T	5: 114,394,886 (GRCm39)	I347N	possibly damaging	Het
Galr2	A	T	11: 116,172,325 (GRCm39)	D5V	probably benign	Het
Gm4845	T	G	1: 141,184,865 (GRCm39)		noncoding transcript	Het
Gnao1	A	T	8: 94,693,532 (GRCm39)	Q73L	probably damaging	Het
H2-T5	C	T	17: 36,472,649 (GRCm39)		probably benign	Het
Hectd1	A	G	12: 51,791,356 (GRCm39)	M2594T	probably damaging	Het
Hint3	T	C	10: 30,486,428 (GRCm39)	H117R	probably damaging	Het
Hsd3b6	A	G	3: 98,713,541 (GRCm39)	F253L	probably damaging	Het
Itgal	A	G	7: 126,904,466 (GRCm39)	D313G	possibly damaging	Het
Kbtbd2	A	T	6: 56,755,893 (GRCm39)	D614E	probably damaging	Het
Ksr2	A	T	5: 117,894,335 (GRCm39)	I825F	probably damaging	Het
L3mbtl4	A	T	17: 69,071,635 (GRCm39)	S521C	probably benign	Het
Lamc1	T	C	1: 153,123,015 (GRCm39)	N725S	probably damaging	Het
Med1	T	G	11: 98,049,248 (GRCm39)	E516A	possibly damaging	Het
Mical3	A	T	6: 120,935,660 (GRCm39)	V1622E	probably benign	Het
Miip	G	A	4: 147,945,518 (GRCm39)	P373S	probably damaging	Het
Myo7a	C	A	7: 97,722,400 (GRCm39)	S1175I	probably damaging	Het
Ndst3	A	T	3: 123,340,474 (GRCm39)	D781E	probably benign	Het
Nf1	T	A	11: 79,359,583 (GRCm39)	V1407E	probably damaging	Het
Opalin	A	G	19: 41,056,196 (GRCm39)	L33P	probably damaging	Het
Or2f2	A	T	6: 42,767,458 (GRCm39)	I162F	probably benign	Het
Or2n1b	G	C	17: 38,460,296 (GRCm39)	K272N	probably damaging	Het
Or4c111	T	C	2: 88,843,488 (GRCm39)	I307V	probably benign	Het
Or8b12i	G	T	9: 20,082,410 (GRCm39)	S152R	probably damaging	Het
Or8k28	T	C	2: 86,285,859 (GRCm39)	Y252C	probably damaging	Het
Or8s10	A	T	15: 98,335,560 (GRCm39)	D70V	probably damaging	Het
Pcdhb2	T	A	18: 37,429,168 (GRCm39)	N23K	probably damaging	Het
Pdap1	A	G	5: 145,073,691 (GRCm39)		probably benign	Het
Pds5b	A	G	5: 150,670,197 (GRCm39)	E395G	probably damaging	Het
Pex1	C	A	5: 3,668,880 (GRCm39)	R624S	probably benign	Het
Pitrm1	G	A	13: 6,608,261 (GRCm39)	V329I	probably benign	Het
Pop1	G	A	15: 34,515,970 (GRCm39)		probably benign	Het
Prkaa1	A	G	15: 5,190,082 (GRCm39)		probably null	Het
Slc38a6	G	T	12: 73,335,298 (GRCm39)		probably null	Het
Slc5a9	T	A	4: 111,750,384 (GRCm39)	Y158F	probably damaging	Het
Spata3	T	A	1: 85,954,175 (GRCm39)	V114E	probably damaging	Het
Tbcb	T	A	7: 29,931,019 (GRCm39)	I34F	possibly damaging	Het
Tek	T	A	4: 94,751,903 (GRCm39)	Y1014*	probably null	Het
Togaram1	G	T	12: 65,014,681 (GRCm39)	C644F	probably damaging	Het
Trim56	A	C	5: 137,142,918 (GRCm39)	D199E	possibly damaging	Het
Tssk3	A	T	4: 129,383,110 (GRCm39)	D187E	probably benign	Het
Ttn	G	A	2: 76,727,147 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,025 (GRCm39)	R126Q	probably benign	Het
Ugt1a10	T	C	1: 87,983,838 (GRCm39)	M212T	probably benign	Het
Vmn1r177	A	T	7: 23,565,772 (GRCm39)	F35I	possibly damaging	Het
Vmn1r44	T	A	6: 89,870,915 (GRCm39)	H77Q	possibly damaging	Het
Zfp1004	T	A	2: 150,034,143 (GRCm39)	Y186N	probably damaging	Het
Zfp524	G	A	7: 5,021,347 (GRCm39)	V292I	probably benign	Het
Zfp788	T	G	7: 41,297,018 (GRCm39)	I56S	probably benign	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
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
R9701:Gnpat	UTSW	8	125,613,678 (GRCm39)	missense	probably benign	0.01
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'- AACTGCTGCTGGATTGACGTC -3'
(R):5'- GTACAGTGGTGGACTCCTTC -3'

Sequencing Primer
(F):5'- TGGATTGACGTCCACACTG -3'
(R):5'- TGGACTCCTTCGGCTTAGGAAC -3'

Posted On

2015-09-24