Mutagenetix > Incidental Mutation

Incidental Mutation 'R3913:Gdpd5'

309501

Institutional Source

Beutler Lab

Gene Symbol

Gdpd5

Ensembl Gene

ENSMUSG00000035314

Gene Name

glycerophosphodiester phosphodiesterase domain containing 5

Synonyms

Gde2

MMRRC Submission

040911-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99030621-99111084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99087546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 70 (D70G)

Ref Sequence

ENSEMBL: ENSMUSP00000146372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037528] [ENSMUST00000208800] [ENSMUST00000213887]

AlphaFold

Q640M6

Predicted Effect

probably null
Transcript: ENSMUST00000037528
AA Change: D70G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000036175
Gene: ENSMUSG00000035314
AA Change: D70G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207238

Predicted Effect

probably null
Transcript: ENSMUST00000208800
AA Change: D70G

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably null
Transcript: ENSMUST00000213887
AA Change: D70G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.1324

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (59/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	T	A	3: 137,927,541 (GRCm39)	V29E	probably damaging	Het
Adra1d	T	A	2: 131,404,075 (GRCm39)	D5V	probably damaging	Het
Arid1b	A	G	17: 5,392,532 (GRCm39)	I2021V	possibly damaging	Het
Birc6	A	T	17: 74,880,608 (GRCm39)	R462*	probably null	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,874,759 (GRCm39)	D783G	possibly damaging	Het
Dcaf15	T	C	8: 84,825,794 (GRCm39)	Y271C	probably damaging	Het
Dcun1d2	A	C	8: 13,331,082 (GRCm39)	M16R	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnttip2	T	C	3: 122,069,040 (GRCm39)	V85A	possibly damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Exoc7	T	C	11: 116,197,731 (GRCm39)	D27G	probably benign	Het
Glyr1	A	G	16: 4,849,777 (GRCm39)	F199L	probably damaging	Het
Golga4	T	A	9: 118,368,039 (GRCm39)	M414K	probably damaging	Het
Gpr132	C	A	12: 112,816,640 (GRCm39)	W62L	probably benign	Het
Gpr179	A	T	11: 97,225,591 (GRCm39)	V2188E	probably benign	Het
Ilf3	C	T	9: 21,309,422 (GRCm39)	A526V	possibly damaging	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Kcnab2	A	G	4: 152,479,689 (GRCm39)	V187A	probably damaging	Het
Kcnj15	C	T	16: 95,097,329 (GRCm39)	T317I	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl30	T	C	1: 91,287,166 (GRCm39)	V484A	possibly damaging	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Liph	G	T	16: 21,781,009 (GRCm39)		probably benign	Het
Lrrc7	G	A	3: 157,997,589 (GRCm39)	L158F	probably damaging	Het
Maml1	T	C	11: 50,154,259 (GRCm39)	T602A	probably benign	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mei4	A	G	9: 81,772,316 (GRCm39)	K43R	probably benign	Het
Mettl4	A	G	17: 95,047,960 (GRCm39)	V227A	probably benign	Het
Mst1r	G	A	9: 107,791,945 (GRCm39)	R827Q	probably benign	Het
Olfm1	A	G	2: 28,098,186 (GRCm39)	T83A	possibly damaging	Het
Or1e30	G	T	11: 73,678,522 (GRCm39)	G253W	probably damaging	Het
Or5m10b	T	C	2: 85,699,115 (GRCm39)	Y60H	probably damaging	Het
Parp4	A	G	14: 56,857,975 (GRCm39)	E869G	probably damaging	Het
Pate4	C	A	9: 35,523,140 (GRCm39)	M1I	probably null	Het
Patj	A	G	4: 98,457,338 (GRCm39)	D1280G	probably damaging	Het
Ppargc1b	T	C	18: 61,444,447 (GRCm39)	S255G	probably damaging	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Rlim	T	C	X: 103,006,267 (GRCm39)	T545A	probably benign	Het
Robo2	A	T	16: 73,831,893 (GRCm39)	D262E	probably damaging	Het
Sec14l5	A	G	16: 4,965,720 (GRCm39)		probably benign	Het
Sema4b	A	G	7: 79,870,222 (GRCm39)	S467G	probably benign	Het
Setd2	C	T	9: 110,380,114 (GRCm39)	R1310C	probably damaging	Het
Sh3d19	T	C	3: 85,992,083 (GRCm39)	I37T	probably damaging	Het
Slc23a3	T	A	1: 75,105,566 (GRCm39)	I422F	probably benign	Het
Snap91	T	C	9: 86,674,610 (GRCm39)	T534A	possibly damaging	Het
Son	A	T	16: 91,456,999 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,340,228 (GRCm39)	S463R	probably damaging	Het
Tubb3	A	G	8: 124,147,748 (GRCm39)	H227R	possibly damaging	Het
Tyw1	T	A	5: 130,287,876 (GRCm39)	V36D	probably damaging	Het
Vwa5a	T	C	9: 38,646,039 (GRCm39)	I469T	probably damaging	Het
Zdhhc8	A	G	16: 18,044,587 (GRCm39)	L311P	possibly damaging	Het

Other mutations in Gdpd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03291:Gdpd5	APN	7	99,109,328 (GRCm39)	utr 3 prime	probably benign
R0149:Gdpd5	UTSW	7	99,107,997 (GRCm39)	missense	possibly damaging	0.49
R0361:Gdpd5	UTSW	7	99,107,997 (GRCm39)	missense	possibly damaging	0.49
R0811:Gdpd5	UTSW	7	99,087,540 (GRCm39)	missense	probably damaging	1.00
R0812:Gdpd5	UTSW	7	99,087,540 (GRCm39)	missense	probably damaging	1.00
R1633:Gdpd5	UTSW	7	99,097,720 (GRCm39)	missense	probably benign
R1864:Gdpd5	UTSW	7	99,098,206 (GRCm39)	missense	probably benign	0.04
R1885:Gdpd5	UTSW	7	99,109,204 (GRCm39)	missense	probably benign	0.29
R2099:Gdpd5	UTSW	7	99,097,696 (GRCm39)	missense	probably damaging	1.00
R3776:Gdpd5	UTSW	7	99,103,779 (GRCm39)	missense	probably benign	0.04
R5198:Gdpd5	UTSW	7	99,087,515 (GRCm39)	missense	probably damaging	1.00
R5318:Gdpd5	UTSW	7	99,102,234 (GRCm39)	missense	probably benign	0.03
R7356:Gdpd5	UTSW	7	99,108,085 (GRCm39)	missense	probably damaging	1.00
R7654:Gdpd5	UTSW	7	99,073,396 (GRCm39)	missense	probably damaging	1.00
R7741:Gdpd5	UTSW	7	99,103,001 (GRCm39)	missense	probably damaging	1.00
R8165:Gdpd5	UTSW	7	99,105,689 (GRCm39)	missense	probably benign	0.01
R8506:Gdpd5	UTSW	7	99,103,157 (GRCm39)	missense	probably benign	0.30
R8725:Gdpd5	UTSW	7	99,105,726 (GRCm39)	missense	possibly damaging	0.82
R8936:Gdpd5	UTSW	7	99,109,199 (GRCm39)	missense	probably benign	0.06
R8977:Gdpd5	UTSW	7	99,103,057 (GRCm39)	missense	probably benign	0.00
R9068:Gdpd5	UTSW	7	99,108,048 (GRCm39)	missense	probably benign
R9213:Gdpd5	UTSW	7	99,100,945 (GRCm39)	missense	probably damaging	1.00
R9249:Gdpd5	UTSW	7	99,107,989 (GRCm39)	missense	probably damaging	0.99
R9274:Gdpd5	UTSW	7	99,107,989 (GRCm39)	missense	probably damaging	0.99
R9489:Gdpd5	UTSW	7	99,103,031 (GRCm39)	missense
R9525:Gdpd5	UTSW	7	99,104,156 (GRCm39)	missense	possibly damaging	0.47
R9647:Gdpd5	UTSW	7	99,104,241 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGTTTGGTCCTCTTTGAGCC -3'
(R):5'- TCCTCCAGAAAGCCTTCCTG -3'

Sequencing Primer
(F):5'- TCAGCTCCTGGCAGTTGAG -3'
(R):5'- CTGAAATCCCAGGGGCACAG -3'

Posted On

2015-04-17