Mutagenetix > Incidental Mutation

Incidental Mutation 'R9234:Gnpat'

700989

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 #

R9234 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125589772-125616796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125610179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 454 (L454Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034466 (fasta)

Gene Model

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

AlphaFold

P98192

Predicted Effect

probably damaging
Transcript: ENSMUST00000034466
AA Change: L454Q

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

SMART Domains

Protein: ENSMUSP00000034466
Gene: ENSMUSG00000031985
AA Change: L454Q

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 damaging
Transcript: ENSMUST00000161986
AA Change: L444Q

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

SMART Domains

Protein: ENSMUSP00000125323
Gene: ENSMUSG00000031985
AA Change: L444Q

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: 99.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,798 (GRCm39)	Y20H	probably benign	Het
Arid5b	A	G	10: 67,964,628 (GRCm39)	F348L	possibly damaging	Het
Bms1	C	A	6: 118,375,044 (GRCm39)	A777S	probably damaging	Het
C2cd3	A	G	7: 100,049,012 (GRCm39)	Y61C		Het
Caprin2	A	T	6: 148,744,337 (GRCm39)	Y1029*	probably null	Het
Casp1	A	T	9: 5,303,128 (GRCm39)	D194V	probably benign	Het
Crkl	A	G	16: 17,286,822 (GRCm39)	E126G	probably damaging	Het
Crp	A	T	1: 172,526,413 (GRCm39)	D166V	probably damaging	Het
Dnah10	A	C	5: 124,818,989 (GRCm39)	D425A	possibly damaging	Het
Dnah11	A	T	12: 117,951,095 (GRCm39)	L3071Q	probably damaging	Het
Dnah9	T	A	11: 65,924,751 (GRCm39)	I2168F	possibly damaging	Het
Elp3	T	A	14: 65,788,920 (GRCm39)	I388F	probably damaging	Het
Espn	C	A	4: 152,217,380 (GRCm39)		probably null	Het
Fbrsl1	G	T	5: 110,511,250 (GRCm39)	F504L	probably benign	Het
Fzd9	A	C	5: 135,279,540 (GRCm39)	M115R	probably damaging	Het
Git2	A	T	5: 114,899,682 (GRCm39)	Y224N	possibly damaging	Het
Gm9195	A	T	14: 72,695,786 (GRCm39)	Y1415*	probably null	Het
Grm5	C	T	7: 87,723,440 (GRCm39)	P577S	probably damaging	Het
Hfm1	T	C	5: 107,041,334 (GRCm39)	N683S	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Leng8	C	A	7: 4,145,247 (GRCm39)	P216T	probably damaging	Het
Letm2	C	A	8: 26,084,102 (GRCm39)	R43L	probably benign	Het
Lims2	A	T	18: 32,090,943 (GRCm39)	Y309F	probably benign	Het
Llgl1	T	C	11: 60,600,956 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,194,089 (GRCm39)	D1417E	probably damaging	Het
Map4k4	T	A	1: 40,029,261 (GRCm39)	N345K	unknown	Het
Mapre2	T	C	18: 23,937,236 (GRCm39)	I26T	probably benign	Het
Nfe2	A	G	15: 103,159,636 (GRCm39)		probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Ntrk1	A	G	3: 87,695,622 (GRCm39)		probably null	Het
Or51b6b	T	A	7: 103,309,950 (GRCm39)	Y169F	possibly damaging	Het
Or52e18	A	G	7: 104,609,651 (GRCm39)	F96S	probably damaging	Het
Or5h19	T	C	16: 58,856,789 (GRCm39)	N104D	probably benign	Het
Otud7b	G	T	3: 96,047,771 (GRCm39)	Q43H	probably damaging	Het
Pcdhb5	T	C	18: 37,453,695 (GRCm39)	V25A	probably benign	Het
Pcolce2	A	G	9: 95,560,439 (GRCm39)	T163A	probably benign	Het
Pdgfra	T	A	5: 75,324,262 (GRCm39)	V39E	possibly damaging	Het
Pdgfrb	T	A	18: 61,194,300 (GRCm39)	W26R	probably null	Het
Pigp	T	A	16: 94,165,522 (GRCm39)	*206Y	probably null	Het
Pip5kl1	G	T	2: 32,468,211 (GRCm39)	G126C	probably benign	Het
Plekhg2	G	T	7: 28,064,215 (GRCm39)	T442K	probably benign	Het
Prmt5	A	T	14: 54,748,674 (GRCm39)	S375T	possibly damaging	Het
Rnf213	T	A	11: 119,340,943 (GRCm39)	M3529K		Het
Ror2	C	A	13: 53,265,374 (GRCm39)	D573Y	probably damaging	Het
Shank1	A	G	7: 43,962,579 (GRCm39)	T98A	unknown	Het
Shcbp1	A	T	8: 4,798,800 (GRCm39)	I373K	possibly damaging	Het
Slc25a42	A	G	8: 70,642,736 (GRCm39)	S64P	probably damaging	Het
Smco3	T	A	6: 136,808,410 (GRCm39)	I155F	probably damaging	Het
Snx4	C	A	16: 33,087,161 (GRCm39)	S102*	probably null	Het
Snx4	T	A	16: 33,108,069 (GRCm39)	S288T	probably benign	Het
Socs4	A	G	14: 47,527,716 (GRCm39)	N217S	probably benign	Het
Tatdn2	G	A	6: 113,679,683 (GRCm39)		probably null	Het
Tmprss2	A	G	16: 97,379,821 (GRCm39)	Y160H	probably damaging	Het
Trim37	T	C	11: 87,036,393 (GRCm39)	I158T	possibly damaging	Het
Trip11	C	T	12: 101,811,990 (GRCm39)		probably null	Het
Ubr3	G	A	2: 69,727,990 (GRCm39)	A118T	probably benign	Het
Ubxn7	T	C	16: 32,178,895 (GRCm39)		probably null	Het
Unc5cl	C	T	17: 48,770,658 (GRCm39)	H369Y	probably damaging	Het
Unc5d	A	T	8: 29,250,877 (GRCm39)	N263K	probably damaging	Het
Vmn2r59	A	G	7: 41,661,907 (GRCm39)	I636T	possibly damaging	Het
Vps13d	G	T	4: 144,875,792 (GRCm39)	Q1578K		Het
Wnk2	T	C	13: 49,224,274 (GRCm39)	D1171G	probably damaging	Het
Zfpm2	A	G	15: 40,966,470 (GRCm39)	Y985C	probably damaging	Het
Zpbp2	A	T	11: 98,443,398 (GRCm39)	N77I	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
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'- AGATCACTGGGCATCTTACAG -3'
(R):5'- CTTCGGACATTGAAGGCCAC -3'

Sequencing Primer
(F):5'- TCACTGGGCATCTTACAGAGAGAG -3'
(R):5'- GGACATTGAAGGCCACATTCCTAG -3'

Posted On

2022-03-25