Mutagenetix > Incidental Mutation

Incidental Mutation 'R1537:Gnpat'

169603

Institutional Source

Beutler Lab

Gene Symbol

Gnpat

Ensembl Gene

ENSMUSG00000031985

Gene Name

glyceronephosphate O-acyltransferase

Synonyms

D1Ertd819e

MMRRC Submission

039576-MU

Accession Numbers

Essential gene?

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

Stock #

R1537 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125589772-125616796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125597555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 39 (E39G)

Ref Sequence

ENSEMBL: ENSMUSP00000125323 (fasta)

Gene Model

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

AlphaFold

P98192

Predicted Effect

probably damaging
Transcript: ENSMUST00000034466
AA Change: E39G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034466
Gene: ENSMUSG00000031985
AA Change: E39G

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: E39G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125323
Gene: ENSMUSG00000031985
AA Change: E39G

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,124 (GRCm39)	H86L	possibly damaging	Het
4930519G04Rik	A	G	5: 115,008,278 (GRCm39)	T31A	probably benign	Het
Ahcyl1	A	G	3: 107,603,505 (GRCm39)	F30S	probably benign	Het
Alox5ap	G	A	5: 149,201,993 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,526,729 (GRCm39)	S53G	probably null	Het
Arap3	A	T	18: 38,122,737 (GRCm39)		probably null	Het
Ash1l	T	A	3: 88,979,783 (GRCm39)	V2769E	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bhlha9	C	T	11: 76,563,457 (GRCm39)	S28L	probably benign	Het
Bltp2	T	A	11: 78,180,169 (GRCm39)	Y2150N	probably damaging	Het
Bmpr2	A	G	1: 59,907,285 (GRCm39)	T793A	probably benign	Het
Ccdc80	G	A	16: 44,916,299 (GRCm39)	A352T	probably benign	Het
Chst2	A	T	9: 95,288,194 (GRCm39)	F51I	probably benign	Het
Col14a1	A	G	15: 55,244,163 (GRCm39)	N412S	unknown	Het
Dclk2	T	C	3: 86,713,491 (GRCm39)	I451V	probably damaging	Het
Ddb2	A	G	2: 91,065,234 (GRCm39)	S64P	probably benign	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dnai3	T	C	3: 145,748,504 (GRCm39)	E870G	probably damaging	Het
Dusp4	G	T	8: 35,285,570 (GRCm39)	R277L	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Garem1	A	T	18: 21,301,931 (GRCm39)		probably null	Het
Golgb1	A	T	16: 36,719,150 (GRCm39)	Q352L	possibly damaging	Het
Hdlbp	T	C	1: 93,345,096 (GRCm39)	D803G	probably benign	Het
Hps1	A	G	19: 42,748,143 (GRCm39)		probably null	Het
Ilvbl	G	A	10: 78,415,565 (GRCm39)	R327H	probably benign	Het
Itpr3	A	G	17: 27,333,121 (GRCm39)	D1911G	possibly damaging	Het
Lmo7	T	A	14: 102,166,700 (GRCm39)		probably benign	Het
Mcm10	G	A	2: 5,003,591 (GRCm39)	T542I	possibly damaging	Het
Med1	A	G	11: 98,051,772 (GRCm39)	V497A	probably damaging	Het
Mn1	G	A	5: 111,602,646 (GRCm39)	A1295T	probably damaging	Het
Myh7b	A	C	2: 155,473,707 (GRCm39)	D1580A	probably damaging	Het
Naa20	A	G	2: 145,754,438 (GRCm39)	I101V	probably benign	Het
Nav3	T	C	10: 109,702,846 (GRCm39)	Y229C	probably damaging	Het
Obscn	T	C	11: 58,891,575 (GRCm39)	R6986G	unknown	Het
Or51h7	G	A	7: 102,591,547 (GRCm39)	T79I	probably damaging	Het
Or8b4	A	G	9: 37,830,570 (GRCm39)	I211V	probably benign	Het
P2rx3	A	G	2: 84,853,825 (GRCm39)		probably null	Het
Pcdhac2	G	A	18: 37,279,539 (GRCm39)	G840R	possibly damaging	Het
Pclo	A	G	5: 14,762,489 (GRCm39)	N3654S	unknown	Het
Pcnx2	T	A	8: 126,604,188 (GRCm39)	E689D	possibly damaging	Het
Pds5a	A	G	5: 65,804,464 (GRCm39)	S532P	probably benign	Het
Phf1	G	A	17: 27,154,372 (GRCm39)		probably null	Het
Pkp4	G	A	2: 59,045,147 (GRCm39)	V41M	probably damaging	Het
Prlr	T	G	15: 10,328,364 (GRCm39)		probably null	Het
Prr12	G	T	7: 44,678,366 (GRCm39)	A1954D	unknown	Het
Prtg	A	G	9: 72,717,039 (GRCm39)	T127A	probably benign	Het
Ptprh	A	G	7: 4,552,698 (GRCm39)	L884P	probably damaging	Het
Rnf170	T	A	8: 26,629,076 (GRCm39)	D183E	probably benign	Het
Rrp12	A	T	19: 41,875,242 (GRCm39)	H339Q	probably damaging	Het
Rubcnl	T	G	14: 75,278,267 (GRCm39)	S350R	possibly damaging	Het
Sgo2b	T	A	8: 64,379,536 (GRCm39)	T1099S	possibly damaging	Het
Ska2	T	C	11: 87,006,945 (GRCm39)	S17P	probably damaging	Het
Slc38a2	A	G	15: 96,591,034 (GRCm39)	I243T	possibly damaging	Het
Sptan1	T	A	2: 29,916,034 (GRCm39)	D2007E	possibly damaging	Het
Taar5	T	A	10: 23,846,620 (GRCm39)	L6H	probably benign	Het
Tbata	G	T	10: 61,019,270 (GRCm39)		probably null	Het
Tent2	C	T	13: 93,312,076 (GRCm39)	G208D	probably damaging	Het
Tmem107	T	C	11: 68,963,284 (GRCm39)	S98P	probably damaging	Het
Tpst2	A	G	5: 112,456,286 (GRCm39)	D275G	possibly damaging	Het
Ttc28	G	T	5: 111,433,184 (GRCm39)	G2073W	probably damaging	Het
Ttc7	T	C	17: 87,629,891 (GRCm39)	V291A	possibly damaging	Het
Vps13b	T	A	15: 35,792,327 (GRCm39)	N2198K	possibly damaging	Het
Wdr37	A	T	13: 8,887,039 (GRCm39)	D249E	probably benign	Het
Xirp2	G	T	2: 67,340,357 (GRCm39)	C866F	probably damaging	Het
Zfp990	A	G	4: 145,263,566 (GRCm39)	E188G	possibly damaging	Het
Zkscan2	A	G	7: 123,099,064 (GRCm39)	S43P	possibly damaging	Het
Zscan5b	A	G	7: 6,236,850 (GRCm39)	R200G	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
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
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'- CCTTTGTCTGAGCCTAGCATTAGAACAC -3'
(R):5'- TTTCATAACATACCATGCATTTGGCACC -3'

Sequencing Primer
(F):5'- GAGCCTAGCATTAGAACACTTGTAG -3'
(R):5'- GTGCCATGCAGCTAAACTTG -3'

Posted On

2014-04-13