Mutagenetix > Incidental Mutations

Incidental Mutation 'R8165:Gdpd5'

633720

Institutional Source

Beutler Lab

Gene Symbol

Gdpd5

Ensembl Gene

ENSMUSG00000035314

Gene Name

glycerophosphodiester phosphodiesterase domain containing 5

Synonyms

Gde2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99381414-99461877 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99456482 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 502 (T502S)

Ref Sequence

ENSEMBL: ENSMUSP00000036175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037528]

Predicted Effect

probably benign
Transcript: ENSMUST00000037528
AA Change: T502S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000036175
Gene: ENSMUSG00000035314
AA Change: T502S

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
transmembrane domain	92	114	N/A	INTRINSIC
transmembrane domain	127	146	N/A	INTRINSIC
transmembrane domain	161	180	N/A	INTRINSIC
transmembrane domain	193	215	N/A	INTRINSIC
Pfam:GDPD	233	380	9.8e-17	PFAM
transmembrane domain	498	517	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired motor neuron differentiation. [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
0610040J01Rik	C	A	5: 63,897,946		probably null	Het
1110037F02Rik	T	A	4: 11,542,128	D1521E	probably benign	Het
Amph	A	G	13: 19,094,837	K161E	probably benign	Het
Aox2	A	T	1: 58,308,929	H602L	probably benign	Het
Areg	A	G	5: 91,143,633	N145S	probably damaging	Het
Arhgap29	C	T	3: 121,988,573	T142I	probably damaging	Het
Bcar3	C	T	3: 122,511,156		probably benign	Het
Brpf3	C	T	17: 28,806,274	A107V	probably benign	Het
Btnl2	T	A	17: 34,368,708	S509T	possibly damaging	Het
Cacna2d2	A	G	9: 107,525,454		probably null	Het
Casz1	C	T	4: 148,944,431	P1111L	probably damaging	Het
Ccdc91	C	T	6: 147,631,588	T411I	unknown	Het
Chd9	A	C	8: 91,041,141	E2422A	probably damaging	Het
Clrn3	T	C	7: 135,528,404	I34V	probably benign	Het
Cnksr3	C	T	10: 7,154,467	D79N	probably damaging	Het
Cops8	A	G	1: 90,612,007		probably null	Het
Cpa2	A	G	6: 30,564,346	K392R	probably benign	Het
Dnajc28	G	A	16: 91,616,907	R150*	probably null	Het
Dnase1l3	T	C	14: 7,994,299		probably benign	Het
Fam65a	C	A	8: 105,620,888	L1028M	unknown	Het
Gp2	A	T	7: 119,450,152	D387E	probably damaging	Het
Gpr179	A	G	11: 97,351,538	L160P	probably benign	Het
Hmcn1	G	A	1: 150,646,658	T3497M	probably benign	Het
Idh3b	T	A	2: 130,280,500	T322S	possibly damaging	Het
Kit	A	T	5: 75,620,880	N323I	possibly damaging	Het
Kng2	T	C	16: 22,987,496	S445G	unknown	Het
Lin54	A	G	5: 100,454,499	V393A	probably benign	Het
Lyst	T	A	13: 13,698,360	W2715R	probably damaging	Het
Mad1l1	T	C	5: 140,315,058	T28A	probably benign	Het
Med7	T	A	11: 46,441,246	C223S	probably benign	Het
Megf8	T	A	7: 25,353,873	L1823Q	probably damaging	Het
Mga	C	A	2: 119,947,238	Q1755K	probably benign	Het
Mgat4b	A	T	11: 50,210,974	N22I	probably benign	Het
Ndufb6	C	T	4: 40,270,665		probably null	Het
Neil3	A	G	8: 53,589,094	L490P	probably benign	Het
Nek9	C	T	12: 85,303,643	V886I	probably benign	Het
Nol4l	A	T	2: 153,420,553	Y366*	probably null	Het
Nt5dc2	A	G	14: 31,138,929	T354A	probably damaging	Het
Olfr339	T	A	2: 36,421,703	Y102N	probably damaging	Het
Pde2a	G	A	7: 101,500,448		probably null	Het
Phf1	T	C	17: 26,937,070	F444L	possibly damaging	Het
Plin4	G	A	17: 56,107,019	T202I	possibly damaging	Het
Plk4	G	C	3: 40,813,574	V851L	probably damaging	Het
Pp2d1	A	G	17: 53,515,229	S270P	probably damaging	Het
Scn9a	A	G	2: 66,540,530	F569L	probably damaging	Het
Sel1l2	T	A	2: 140,262,706	L306F	probably damaging	Het
Spic	A	T	10: 88,677,566	S86T	probably damaging	Het
Stkld1	A	G	2: 26,946,656	N278S	probably benign	Het
Taar7d	T	A	10: 24,027,597	F126I	probably benign	Het
Tbc1d31	A	G	15: 57,960,949	E869G	possibly damaging	Het
Tbcd	C	T	11: 121,493,885	T315M	probably benign	Het
Terf2	T	C	8: 107,083,024	K221E	possibly damaging	Het
Tex43	T	A	18: 56,589,475		probably benign	Het
Thsd7a	T	A	6: 12,468,963	T539S		Het
Tll2	A	G	19: 41,088,874	F818L	possibly damaging	Het
Tmem87a	T	C	2: 120,370,478	T427A	possibly damaging	Het
Ush2a	C	A	1: 188,451,755	Q1419K	possibly damaging	Het
Vill	T	A	9: 119,066,753	F511Y	probably damaging	Het
Vps13c	A	G	9: 67,858,790	D63G	probably benign	Het
Vrk2	A	G	11: 26,535,575	F138L	probably benign	Het
Zfp710	T	C	7: 80,086,027	I514T	probably damaging	Het
Zgrf1	T	A	3: 127,563,383	F753I	possibly damaging	Het

Other mutations in Gdpd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03291:Gdpd5	APN	7	99460121	utr 3 prime	probably benign
R0149:Gdpd5	UTSW	7	99458790	missense	possibly damaging	0.49
R0361:Gdpd5	UTSW	7	99458790	missense	possibly damaging	0.49
R0811:Gdpd5	UTSW	7	99438333	missense	probably damaging	1.00
R0812:Gdpd5	UTSW	7	99438333	missense	probably damaging	1.00
R1633:Gdpd5	UTSW	7	99448513	missense	probably benign
R1864:Gdpd5	UTSW	7	99448999	missense	probably benign	0.04
R1885:Gdpd5	UTSW	7	99459997	missense	probably benign	0.29
R2099:Gdpd5	UTSW	7	99448489	missense	probably damaging	1.00
R3776:Gdpd5	UTSW	7	99454572	missense	probably benign	0.04
R3913:Gdpd5	UTSW	7	99438339	missense	probably null	0.23
R5198:Gdpd5	UTSW	7	99438308	missense	probably damaging	1.00
R5318:Gdpd5	UTSW	7	99453027	missense	probably benign	0.03
R7356:Gdpd5	UTSW	7	99458878	missense	probably damaging	1.00
R7654:Gdpd5	UTSW	7	99424189	missense	probably damaging	1.00
R7741:Gdpd5	UTSW	7	99453794	missense	probably damaging	1.00
R8506:Gdpd5	UTSW	7	99453950	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TGCCATACACTCATGCATGCATAC -3'
(R):5'- CAAGGTTTGGCTCTGAGTCCTG -3'

Sequencing Primer
(F):5'- TGCATACATGTTTGCATACACACAC -3'
(R):5'- TGAGCTGGGAGCCCATTCTAG -3'

Posted On

2020-07-13