Mutagenetix > Incidental Mutation

Incidental Mutation 'R8788:Gdpd1'

670773

Institutional Source

Beutler Lab

Gene Symbol

Gdpd1

Ensembl Gene

ENSMUSG00000061666

Gene Name

glycerophosphodiester phosphodiesterase domain containing 1

Synonyms

2610020H15Rik

MMRRC Submission

068607-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R8788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86924693-86964888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86950318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 85 (V85A)

Ref Sequence

ENSEMBL: ENSMUSP00000020804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020804]

AlphaFold

Q9CRY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020804
AA Change: V85A

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

SMART Domains

Protein: ENSMUSP00000020804
Gene: ENSMUSG00000061666
AA Change: V85A

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:GDPD	45	204	1.2e-26	PFAM
low complexity region	206	217	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	T	10: 69,718,256 (GRCm39)	L502F	unknown	Het
Btbd8	A	G	5: 107,618,853 (GRCm39)	*252W	probably null	Het
Btnl9	T	A	11: 49,066,614 (GRCm39)	M336L	probably benign	Het
Cd72	T	C	4: 43,450,185 (GRCm39)	E241G	probably benign	Het
Cdh23	T	A	10: 60,324,372 (GRCm39)	N296I	probably damaging	Het
Celf6	C	A	9: 59,485,750 (GRCm39)	S30R	possibly damaging	Het
Crxos	T	C	7: 15,632,499 (GRCm39)	Y102H	probably benign	Het
Csmd3	A	T	15: 47,470,513 (GRCm39)	S2477T		Het
Evi2a	T	A	11: 79,418,531 (GRCm39)	R26S	probably benign	Het
Ezr	T	C	17: 7,021,392 (GRCm39)	M182V	probably benign	Het
Fat2	G	T	11: 55,171,929 (GRCm39)	A2928D	possibly damaging	Het
Fetub	A	T	16: 22,758,182 (GRCm39)	K322*	probably null	Het
Fscb	T	C	12: 64,518,395 (GRCm39)	T1024A	unknown	Het
Gm38119	G	T	3: 92,645,537 (GRCm39)	P19H	unknown	Het
Gpr182	T	C	10: 127,586,529 (GRCm39)	T141A	probably benign	Het
Inpp5d	G	A	1: 87,611,484 (GRCm39)	G312D	probably damaging	Het
Kif26b	G	A	1: 178,357,090 (GRCm39)		probably benign	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Maf	T	A	8: 116,432,612 (GRCm39)	I331F	probably damaging	Het
Mark3	C	A	12: 111,613,124 (GRCm39)	S529R	probably benign	Het
Mmp10	A	G	9: 7,502,687 (GRCm39)		probably benign	Het
Mrps30	T	C	13: 118,523,538 (GRCm39)	E78G	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nhsl3	A	G	4: 129,119,743 (GRCm39)	V97A	probably benign	Het
Or4c116	T	C	2: 88,942,626 (GRCm39)	T77A	probably benign	Het
Pcdh12	G	A	18: 38,416,109 (GRCm39)	L339F	probably benign	Het
Pdgfd	A	G	9: 6,377,000 (GRCm39)	S365G	probably benign	Het
Piezo1	T	C	8: 123,228,533 (GRCm39)	M281V		Het
Prkg2	C	T	5: 99,117,839 (GRCm39)	E501K	probably damaging	Het
Recql5	T	C	11: 115,786,628 (GRCm39)	I563V	probably benign	Het
Rfx7	T	C	9: 72,524,795 (GRCm39)	S662P	probably benign	Het
Ric8a	A	G	7: 140,438,806 (GRCm39)	T252A	probably benign	Het
Sbf1	C	T	15: 89,186,062 (GRCm39)	R984H	probably damaging	Het
Sel1l3	G	T	5: 53,332,148 (GRCm39)	Y412*	probably null	Het
Slc17a6	G	A	7: 51,298,908 (GRCm39)	A224T	probably damaging	Het
Slco1a8	A	T	6: 141,933,570 (GRCm39)	V425D	probably benign	Het
Smarca4	T	C	9: 21,550,024 (GRCm39)	I378T	probably damaging	Het
Tatdn1	T	C	15: 58,762,543 (GRCm39)	*265W	probably null	Het
Tcaf2	A	G	6: 42,606,472 (GRCm39)	L494P	probably damaging	Het
Tcl1b2	T	C	12: 105,113,380 (GRCm39)	L11P	probably benign	Het
Thrb	A	G	14: 18,002,558 (GRCm38)	E119G	probably damaging	Het
Tll2	T	C	19: 41,109,814 (GRCm39)	T317A	probably benign	Het
Tob2	AGATGATGA	AGATGA	15: 81,735,928 (GRCm39)		probably benign	Het
Upk1b	A	G	16: 38,607,463 (GRCm39)	L88P	probably damaging	Het
Uri1	T	C	7: 37,661,003 (GRCm39)	I30V		Het
Ush2a	A	T	1: 188,475,816 (GRCm39)	R2918*	probably null	Het
Vax1	T	C	19: 59,158,247 (GRCm39)	D72G	unknown	Het
Vmn2r38	C	A	7: 9,078,482 (GRCm39)	M633I	probably benign	Het
Vmn2r95	A	G	17: 18,671,790 (GRCm39)	D581G	probably benign	Het
Vps13d	A	G	4: 144,813,305 (GRCm39)	F3324L		Het
Xrcc6	C	T	15: 81,911,583 (GRCm39)	L309F	probably damaging	Het
Xrra1	A	G	7: 99,555,761 (GRCm39)	Y376C	probably benign	Het
Zfp329	T	C	7: 12,544,490 (GRCm39)	T345A	possibly damaging	Het
Zfp574	T	A	7: 24,779,816 (GRCm39)	N279K	unknown	Het
Zfp804b	T	C	5: 6,822,635 (GRCm39)	M143V	probably benign	Het

Other mutations in Gdpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02279:Gdpd1	APN	11	86,964,727 (GRCm39)	missense	probably benign	0.00
IGL02585:Gdpd1	APN	11	86,964,802 (GRCm39)	start codon destroyed	probably null	0.98
PIT4687001:Gdpd1	UTSW	11	86,950,366 (GRCm39)	missense	probably damaging	1.00
R0947:Gdpd1	UTSW	11	86,928,707 (GRCm39)	missense	probably benign
R1454:Gdpd1	UTSW	11	86,950,335 (GRCm39)	missense	possibly damaging	0.95
R2086:Gdpd1	UTSW	11	86,926,094 (GRCm39)	missense	probably benign
R2183:Gdpd1	UTSW	11	86,926,102 (GRCm39)	missense	probably damaging	1.00
R4416:Gdpd1	UTSW	11	86,926,114 (GRCm39)	missense	probably benign	0.44
R5517:Gdpd1	UTSW	11	86,950,332 (GRCm39)	missense	probably damaging	1.00
R7038:Gdpd1	UTSW	11	86,926,118 (GRCm39)	missense	probably damaging	1.00
R7898:Gdpd1	UTSW	11	86,932,639 (GRCm39)	missense	probably damaging	0.98
R9205:Gdpd1	UTSW	11	86,936,009 (GRCm39)	missense	probably benign	0.22
R9507:Gdpd1	UTSW	11	86,950,264 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GCTTCAAGGCTTTGACATGC -3'
(R):5'- CAGTGTCATGGGATACTTTGGAC -3'

Sequencing Primer
(F):5'- GTGAGCCATCATCAGCTTAATC -3'
(R):5'- TGGGATACTTTGGACTTTAAAATCAG -3'

Posted On

2021-04-30