Mutagenetix > Incidental Mutation

Incidental Mutation 'R1454:Gdpd1'

162218

Institutional Source

Beutler Lab

Gene Symbol

Gdpd1

Ensembl Gene

ENSMUSG00000061666

Gene Name

glycerophosphodiester phosphodiesterase domain containing 1

Synonyms

2610020H15Rik

MMRRC Submission

039509-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R1454 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86924693-86964888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86950335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 79 (K79N)

Ref Sequence

ENSEMBL: ENSMUSP00000020804 (fasta)

Gene Model

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

AlphaFold

Q9CRY7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020804
AA Change: K79N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020804
Gene: ENSMUSG00000061666
AA Change: K79N

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

0.1240

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.2%

Validation Efficiency

97% (58/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,666,881 (GRCm39)	V537A	possibly damaging	Het
Adcy10	A	T	1: 165,342,949 (GRCm39)	I272F	possibly damaging	Het
Adcy6	A	G	15: 98,502,609 (GRCm39)	S2P	probably damaging	Het
Agap1	A	G	1: 89,765,528 (GRCm39)		probably null	Het
Aldh3a2	A	G	11: 61,155,928 (GRCm39)	V116A	probably benign	Het
Ankdd1b	A	T	13: 96,569,913 (GRCm39)		probably null	Het
Antxrl	G	A	14: 33,782,906 (GRCm39)	V233I	probably damaging	Het
Atp8b5	A	G	4: 43,302,590 (GRCm39)	I38V	probably benign	Het
Atxn7l2	A	G	3: 108,115,748 (GRCm39)		probably benign	Het
Bfsp2	A	T	9: 103,357,424 (GRCm39)	M1K	probably null	Het
Camsap3	T	A	8: 3,653,968 (GRCm39)	I520N	possibly damaging	Het
Cenpc1	C	T	5: 86,161,369 (GRCm39)	V854I	possibly damaging	Het
Csnk2a1	T	C	2: 152,099,347 (GRCm39)	L88S	probably damaging	Het
Dcaf17	A	G	2: 70,903,517 (GRCm39)	N171D	probably damaging	Het
Dctn1	G	C	6: 83,174,490 (GRCm39)	A1077P	possibly damaging	Het
Dock1	T	C	7: 134,453,338 (GRCm39)		probably benign	Het
Egfr	A	T	11: 16,839,920 (GRCm39)	I645L	probably benign	Het
Ggt5	A	T	10: 75,445,742 (GRCm39)	L432F	probably benign	Het
Gm11060	A	G	2: 104,924,097 (GRCm39)	T22A	unknown	Het
Gpr132	G	A	12: 112,815,860 (GRCm39)	T322I	possibly damaging	Het
Grin1	G	A	2: 25,182,442 (GRCm39)	R940*	probably null	Het
Hip1	T	C	5: 135,467,486 (GRCm39)	T316A	probably benign	Het
Hnrnpm	A	G	17: 33,885,462 (GRCm39)		probably benign	Het
Hsd3b5	G	A	3: 98,526,846 (GRCm39)	T200I	probably benign	Het
Hspa9	A	T	18: 35,071,659 (GRCm39)	L647H	probably damaging	Het
Itgad	T	C	7: 127,791,309 (GRCm39)	I727T	probably benign	Het
Kcnma1	T	C	14: 23,513,268 (GRCm39)	D522G	probably damaging	Het
Lipf	C	T	19: 33,948,132 (GRCm39)		probably benign	Het
Ly6i	T	C	15: 74,854,904 (GRCm39)	D2G	possibly damaging	Het
Mast1	G	A	8: 85,647,264 (GRCm39)	P631L	probably damaging	Het
Mmp1b	G	C	9: 7,386,693 (GRCm39)	L144V	probably damaging	Het
Msh6	A	G	17: 88,292,186 (GRCm39)	S314G	probably benign	Het
Myo5c	G	A	9: 75,170,348 (GRCm39)	V493I	possibly damaging	Het
Nefm	A	G	14: 68,358,828 (GRCm39)	L402P	probably damaging	Het
Nrxn2	T	C	19: 6,531,476 (GRCm39)	F697S	probably damaging	Het
Or13c7b	A	T	4: 43,820,639 (GRCm39)	C241S	probably damaging	Het
Pex13	A	G	11: 23,599,422 (GRCm39)	I363T	probably benign	Het
Plcb3	T	C	19: 6,932,414 (GRCm39)	R1082G	possibly damaging	Het
Psg28	A	T	7: 18,161,889 (GRCm39)	S205T	possibly damaging	Het
Pxt1	C	A	17: 29,153,756 (GRCm39)	V26L	possibly damaging	Het
Ripk2	G	A	4: 16,163,239 (GRCm39)	T53M	probably damaging	Het
Slc5a9	A	G	4: 111,741,161 (GRCm39)	V495A	probably benign	Het
Snrpa	T	C	7: 26,892,362 (GRCm39)	K66R	probably benign	Het
Srgap1	T	A	10: 121,732,643 (GRCm39)	E145V	probably damaging	Het
Suz12	A	G	11: 79,922,939 (GRCm39)	T694A	probably benign	Het
Tatdn2	T	A	6: 113,681,288 (GRCm39)	D440E	probably benign	Het
Tbc1d21	A	G	9: 58,270,096 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,034 (GRCm39)	Y570*	probably null	Het
Tbc1d32	A	T	10: 56,053,575 (GRCm39)		probably benign	Het
Tdrd5	G	C	1: 156,087,406 (GRCm39)	Q839E	probably benign	Het
Tecpr2	A	G	12: 110,935,387 (GRCm39)	N1402S	probably benign	Het
Thbs1	A	G	2: 117,953,153 (GRCm39)	D921G	probably damaging	Het
Tll1	A	G	8: 64,491,524 (GRCm39)	V803A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trpm4	T	C	7: 44,966,480 (GRCm39)	E461G	probably damaging	Het
Zp3	T	A	5: 136,013,042 (GRCm39)	I152N	probably 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
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
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'- GTTTGTTTGAGACAGGAGCCCAGAG -3'
(R):5'- CATAGCTGCCTATGGAAGAGGCAAC -3'

Sequencing Primer
(F):5'- TAAGGCTGTGAGCCATCATC -3'
(R):5'- CCTATGGAAGAGGCAACATGATTC -3'

Posted On

2014-03-14