Mutagenetix > Incidental Mutation

Incidental Mutation 'R5517:Gdpd1'

431364

Institutional Source

Beutler Lab

Gene Symbol

Gdpd1

Ensembl Gene

ENSMUSG00000061666

Gene Name

glycerophosphodiester phosphodiesterase domain containing 1

Synonyms

2610020H15Rik

MMRRC Submission

043076-MU

Accession Numbers

Essential gene?

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

Stock #

R5517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86924693-86964888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86950332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 80 (D80E)

Ref Sequence

ENSEMBL: ENSMUSP00000020804 (fasta)

Gene Model

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

AlphaFold

Q9CRY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020804
AA Change: D80E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020804
Gene: ENSMUSG00000061666
AA Change: D80E

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

Meta Mutation Damage Score

0.6334

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.5%

Validation Efficiency

99% (67/68)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 36,269,233 (GRCm39)	R675K	possibly damaging	Het
Aire	A	T	10: 77,875,525 (GRCm39)	S282T	probably benign	Het
Ak9	A	G	10: 41,216,887 (GRCm39)	E283G	probably benign	Het
Akap9	T	A	5: 4,051,665 (GRCm39)	D1477E	possibly damaging	Het
Ap2a1	T	C	7: 44,556,405 (GRCm39)	D273G	possibly damaging	Het
Apob	T	C	12: 8,040,906 (GRCm39)	L664P	probably damaging	Het
Arhgap35	A	T	7: 16,297,414 (GRCm39)	F550L	probably damaging	Het
Armc2	T	C	10: 41,839,846 (GRCm39)	E373G	probably benign	Het
Atp8b2	C	A	3: 89,853,338 (GRCm39)	A726S	probably benign	Het
C030048H21Rik	T	A	2: 26,145,899 (GRCm39)	Q87L	probably damaging	Het
Cd244a	T	A	1: 171,405,542 (GRCm39)		probably benign	Het
Cdk10	T	A	8: 123,957,326 (GRCm39)		probably null	Het
Cenpe	C	A	3: 134,929,026 (GRCm39)	P310Q	probably damaging	Het
Chuk	T	A	19: 44,085,972 (GRCm39)		probably null	Het
Crebl2	T	C	6: 134,828,139 (GRCm39)	S104P	probably benign	Het
Ddo	A	G	10: 40,523,726 (GRCm39)	K239E	probably benign	Het
Defb5	A	G	8: 19,300,868 (GRCm39)		probably null	Het
Dhx35	T	A	2: 158,676,832 (GRCm39)	M422K	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gatm	G	A	2: 122,426,024 (GRCm39)	T409I	probably damaging	Het
Gspt1	C	A	16: 11,071,843 (GRCm39)	G7C	unknown	Het
Hells	G	A	19: 38,943,244 (GRCm39)	S516N	probably benign	Het
Ints1	A	G	5: 139,738,542 (GRCm39)	S2069P	possibly damaging	Het
Kank4	G	A	4: 98,663,118 (GRCm39)	T690M	probably damaging	Het
Kcnq4	T	C	4: 120,573,006 (GRCm39)	N265S	possibly damaging	Het
Kif5b	C	A	18: 6,220,954 (GRCm39)	A385S	probably benign	Het
Map2	T	C	1: 66,454,415 (GRCm39)	S1102P	probably benign	Het
Mcm7	A	G	5: 138,163,133 (GRCm39)	S340P	possibly damaging	Het
Mcrs1	C	T	15: 99,144,876 (GRCm39)	R246H	possibly damaging	Het
Myo16	T	A	8: 10,610,226 (GRCm39)	M1189K	probably benign	Het
Or4d2	A	T	11: 87,783,892 (GRCm39)	I286N	probably damaging	Het
Or4k52	G	T	2: 111,610,804 (GRCm39)	M46I	probably benign	Het
Or7g29	G	A	9: 19,287,063 (GRCm39)	T38I	probably damaging	Het
Otog	A	G	7: 45,923,995 (GRCm39)	N1118S	probably damaging	Het
Pakap	T	C	4: 57,855,987 (GRCm39)	Y439H	probably damaging	Het
Pcdhb7	G	T	18: 37,474,846 (GRCm39)		probably benign	Het
Picalm	C	T	7: 89,819,806 (GRCm39)	T189I	possibly damaging	Het
Ptx4	T	A	17: 25,343,760 (GRCm39)	S337T	possibly damaging	Het
Rad51ap2	C	T	12: 11,508,313 (GRCm39)	S745L	probably benign	Het
Rspry1	G	A	8: 95,363,388 (GRCm39)		probably null	Het
Scn5a	T	G	9: 119,324,779 (GRCm39)	I1350L	probably damaging	Het
Sgk2	T	C	2: 162,839,755 (GRCm39)	L121P	probably damaging	Het
Slc17a1	A	T	13: 24,056,575 (GRCm39)		probably benign	Het
Slc6a12	A	G	6: 121,331,298 (GRCm39)	N183S	probably benign	Het
Smg9	C	A	7: 24,114,338 (GRCm39)		probably benign	Het
Spred1	G	A	2: 117,008,195 (GRCm39)	S367N	probably damaging	Het
Srpra	T	C	9: 35,122,646 (GRCm39)	V21A	probably benign	Het
Taar2	A	T	10: 23,816,627 (GRCm39)	I56F	possibly damaging	Het
Taf1a	T	G	1: 183,177,323 (GRCm39)	L67R	probably damaging	Het
Tbc1d10b	C	A	7: 126,797,779 (GRCm39)	R787S	possibly damaging	Het
Topbp1	T	A	9: 103,213,313 (GRCm39)	N1044K	probably benign	Het
Usp24	A	G	4: 106,232,871 (GRCm39)	T886A	probably benign	Het
Vmn2r26	A	G	6: 124,027,676 (GRCm39)	D472G	probably damaging	Het
Zyg11a	T	C	4: 108,061,943 (GRCm39)	N286S	possibly damaging	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
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
R8788:Gdpd1	UTSW	11	86,950,318 (GRCm39)	missense	probably damaging	1.00
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'- GGCTTCAAGGCTTTGACATGC -3'
(R):5'- ACGATAAATGTGGTTGGGCTATTTC -3'

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

Posted On

2016-10-05