Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03032:Gramd2a'

408485

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gramd2a

Ensembl Gene

ENSMUSG00000074259

Gene Name

GRAM domain containing 2A

Synonyms

Gramd2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03032

Quality Score

Status

Chromosome

Chromosomal Location

59587427-59626157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59619410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 190 (E190G)

Ref Sequence

ENSEMBL: ENSMUSP00000096258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098661] [ENSMUST00000123914] [ENSMUST00000128944] [ENSMUST00000129129]

AlphaFold

Q3V3G7

Predicted Effect

probably benign
Transcript: ENSMUST00000098661
AA Change: E190G

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096258
Gene: ENSMUSG00000074259
AA Change: E190G

Domain	Start	End	E-Value	Type
GRAM	66	133	2.93e-20	SMART
transmembrane domain	273	290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123914
AA Change: E197G

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

SMART Domains

Protein: ENSMUSP00000114530
Gene: ENSMUSG00000074259
AA Change: E197G

Domain	Start	End	E-Value	Type
GRAM	73	140	2.93e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128944
AA Change: E198G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116879
Gene: ENSMUSG00000074259
AA Change: E198G

Domain	Start	End	E-Value	Type
GRAM	74	141	2.93e-20	SMART
transmembrane domain	281	298	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129129
AA Change: E67G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118901
Gene: ENSMUSG00000074259
AA Change: E67G

Domain	Start	End	E-Value	Type
transmembrane domain	161	178	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143224

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,119,774 (GRCm39)	Y177F	possibly damaging	Het
Als2	C	A	1: 59,255,189 (GRCm39)		probably benign	Het
Arhgap44	A	G	11: 64,915,038 (GRCm39)	L410P	probably damaging	Het
Atp13a2	C	T	4: 140,727,666 (GRCm39)	A481V	possibly damaging	Het
Bod1l	C	A	5: 41,988,927 (GRCm39)	L393F	probably benign	Het
Cflar	T	A	1: 58,780,179 (GRCm39)	I258N	probably damaging	Het
Col24a1	T	C	3: 145,244,458 (GRCm39)		probably null	Het
Csmd2	A	T	4: 128,412,834 (GRCm39)	N2542I	probably benign	Het
Cyp2b9	T	C	7: 25,898,025 (GRCm39)		probably benign	Het
Dip2c	A	T	13: 9,601,814 (GRCm39)	I258F	probably damaging	Het
Dock7	A	G	4: 98,854,585 (GRCm39)	S1560P	probably benign	Het
Drc7	C	T	8: 95,802,875 (GRCm39)		probably benign	Het
Gm3667	T	A	14: 18,269,522 (GRCm39)	S203C	probably null	Het
Gstm4	T	C	3: 107,951,263 (GRCm39)	D8G	probably damaging	Het
Heatr5b	A	T	17: 79,067,928 (GRCm39)	M1820K	probably benign	Het
Irs4	A	G	X: 140,505,794 (GRCm39)	Y801H	unknown	Het
Loxhd1	C	T	18: 77,374,169 (GRCm39)	T80I	possibly damaging	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Mapk8ip1	T	G	2: 92,216,958 (GRCm39)	K446Q	probably damaging	Het
Mettl21e	C	A	1: 44,249,319 (GRCm39)		probably null	Het
Mmp8	T	A	9: 7,558,530 (GRCm39)		probably benign	Het
Muc19	A	T	15: 91,808,424 (GRCm39)		noncoding transcript	Het
Nipsnap3b	T	A	4: 53,015,016 (GRCm39)	V21E	possibly damaging	Het
Or1j15	C	A	2: 36,458,716 (GRCm39)	Y35*	probably null	Het
Or5al6	A	G	2: 85,977,043 (GRCm39)	F12L	probably damaging	Het
Or7a38	A	T	10: 78,753,471 (GRCm39)	I266F	probably benign	Het
Parp12	G	A	6: 39,064,520 (GRCm39)		probably null	Het
Pramel14	C	A	4: 143,719,815 (GRCm39)	L183F	probably damaging	Het
Rgsl1	T	A	1: 153,701,948 (GRCm39)	T169S	possibly damaging	Het
Rnf38	T	C	4: 44,152,529 (GRCm39)	R12G	probably damaging	Het
Slc9c1	T	C	16: 45,363,624 (GRCm39)		probably benign	Het
Slpi	T	C	2: 164,197,367 (GRCm39)		probably benign	Het
Snx17	G	A	5: 31,353,355 (GRCm39)	V165I	probably benign	Het
Tnfaip3	A	G	10: 18,880,357 (GRCm39)	V570A	probably benign	Het
Vmn1r63	A	G	7: 5,806,350 (GRCm39)	M94T	probably benign	Het
Vmn2r95	A	G	17: 18,672,575 (GRCm39)	I771V	probably benign	Het
Wiz	A	G	17: 32,575,532 (GRCm39)	V868A	probably benign	Het

Other mutations in Gramd2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01682:Gramd2a	APN	9	59,619,393 (GRCm39)	missense	possibly damaging	0.76
R5119:Gramd2a	UTSW	9	59,621,603 (GRCm39)	intron	probably benign
R5628:Gramd2a	UTSW	9	59,615,006 (GRCm39)	missense	probably benign	0.01
R5703:Gramd2a	UTSW	9	59,615,299 (GRCm39)	missense	probably benign	0.25
R5730:Gramd2a	UTSW	9	59,618,489 (GRCm39)	missense	probably damaging	1.00
R5799:Gramd2a	UTSW	9	59,615,299 (GRCm39)	missense	probably benign	0.25
R7424:Gramd2a	UTSW	9	59,615,354 (GRCm39)	missense	possibly damaging	0.75
R7531:Gramd2a	UTSW	9	59,617,193 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02