Mutagenetix > Incidental Mutation

Incidental Mutation 'R0311:Gdpd3'

65238

Institutional Source

Beutler Lab

Gene Symbol

Gdpd3

Ensembl Gene

ENSMUSG00000030703

Gene Name

glycerophosphodiester phosphodiesterase domain containing 3

Synonyms

1110015E22Rik

MMRRC Submission

038521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0311 (G1)

Quality Score

113

Status

Validated

Chromosome

Chromosomal Location

126766334-126775649 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126767189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 66 (R66Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032944] [ENSMUST00000050201] [ENSMUST00000057669] [ENSMUST00000091328]

AlphaFold

Q99LY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032944
AA Change: R66Q

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703
AA Change: R66Q

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
Pfam:GDPD	44	202	1.1e-23	PFAM
low complexity region	208	216	N/A	INTRINSIC
low complexity region	311	321	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000050201

SMART Domains

Protein: ENSMUSP00000101969
Gene: ENSMUSG00000063065

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
S_TKc	43	331	3.3e-97	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057669

SMART Domains

Protein: ENSMUSP00000051619
Gene: ENSMUSG00000063065

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
S_TKc	43	331	3.3e-97	SMART
Blast:S_TKc	335	372	1e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000091328

SMART Domains

Protein: ENSMUSP00000088880
Gene: ENSMUSG00000063065

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	213	2.5e-24	PFAM
Pfam:Pkinase	1	216	2.2e-58	PFAM
Pfam:APH	17	108	7.6e-7	PFAM
Blast:S_TKc	220	257	4e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205468

Predicted Effect

probably benign
Transcript: ENSMUST00000205657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205910

Predicted Effect

probably benign
Transcript: ENSMUST00000206272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207004

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 91.6%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	C	7: 120,402,904	M1547L	probably damaging	Het
Abcb4	A	G	5: 8,934,243	K658E	probably benign	Het
Abr	A	G	11: 76,509,127	S15P	possibly damaging	Het
Adgrb2	G	C	4: 130,017,129	A1168P	probably damaging	Het
Adgre4	A	T	17: 55,802,010	E339V	probably benign	Het
Asprv1	T	C	6: 86,628,840	W223R	probably damaging	Het
Ccdc89	A	G	7: 90,426,693	E37G	probably damaging	Het
Cd48	C	A	1: 171,699,580	Y191*	probably null	Het
Chd4	T	C	6: 125,101,665	I257T	probably benign	Het
Clca4b	T	C	3: 144,932,496	M2V	probably benign	Het
Dnah11	A	T	12: 118,127,133	D1025E	probably benign	Het
Erich5	A	G	15: 34,472,939	*363W	probably null	Het
Etl4	A	G	2: 20,807,129	D1341G	probably damaging	Het
Fbxw11	A	G	11: 32,722,083	T184A	probably benign	Het
Fktn	A	G	4: 53,744,620	Q300R	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Hexb	A	G	13: 97,183,819		probably benign	Het
Kdm4b	A	G	17: 56,386,200	R346G	probably benign	Het
Mbtd1	T	A	11: 93,921,357		probably null	Het
Med23	T	A	10: 24,897,358	C653S	possibly damaging	Het
Nwd2	A	T	5: 63,804,998	I642L	probably damaging	Het
Olfr1444	A	G	19: 12,861,869	I31M	probably benign	Het
Olfr1448	T	A	19: 12,920,096	Y71F	possibly damaging	Het
Olfr912	T	C	9: 38,539,297	V134A	probably benign	Het
Pbld2	T	C	10: 63,054,507		probably null	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Plpp2	C	T	10: 79,527,580	R77K	probably damaging	Het
Pym1	G	T	10: 128,765,984	R168L	possibly damaging	Het
Rbm4	T	C	19: 4,787,556	Y300C	probably damaging	Het
Rnf207	A	G	4: 152,315,779	C175R	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Speg	T	C	1: 75,430,937	V3196A	probably damaging	Het
Syne1	T	A	10: 5,348,943	I1048L	possibly damaging	Het
Th	T	C	7: 142,896,041	E41G	probably damaging	Het
Tmx4	T	A	2: 134,598,526	*336L	probably null	Het
Tnfrsf18	T	C	4: 156,026,415	V10A	possibly damaging	Het
Tnxb	A	T	17: 34,716,984	I2670F	probably damaging	Het
Tpx2	T	C	2: 152,890,492	V562A	probably damaging	Het
Vmn2r73	A	G	7: 85,871,789	S324P	probably benign	Het
Vps18	T	C	2: 119,297,365	Y890H	probably benign	Het
Ythdc1	G	A	5: 86,835,705	D670N	probably damaging	Het

Other mutations in Gdpd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Gdpd3	APN	7	126767426	nonsense	probably null
IGL01113:Gdpd3	APN	7	126767825	missense	probably benign	0.01
IGL01433:Gdpd3	APN	7	126771184	missense	possibly damaging	0.82
IGL01465:Gdpd3	APN	7	126768657	missense	possibly damaging	0.63
IGL01736:Gdpd3	APN	7	126766523	missense	probably damaging	0.99
PIT4431001:Gdpd3	UTSW	7	126766475	missense	probably benign	0.05
R0118:Gdpd3	UTSW	7	126770993	missense	probably damaging	1.00
R2049:Gdpd3	UTSW	7	126768594	missense	probably damaging	0.99
R4976:Gdpd3	UTSW	7	126767282	missense	probably damaging	1.00
R6151:Gdpd3	UTSW	7	126775502	missense	probably benign	0.00
R6170:Gdpd3	UTSW	7	126771164	missense	probably benign	0.04
R6898:Gdpd3	UTSW	7	126771029	nonsense	probably null
R8236:Gdpd3	UTSW	7	126768666	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TGAGTCCAAGCCCCATCAAGTTCC -3'
(R):5'- GCGTGAAAGTGATGCAGCTCTCAG -3'

Sequencing Primer
(F):5'- CCCATCAAGTTCCATGTGAGG -3'
(R):5'- CAGCTCTCAGTGTGAGGGG -3'

Posted On

2013-08-08