Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01682:Gramd2a'

103828

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 #

IGL01682

Quality Score

Status

Chromosome

Chromosomal Location

59587427-59626157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59619393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 61 (I61M)

Ref Sequence

ENSEMBL: ENSMUSP00000118901 (fasta)

Gene Model

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

AlphaFold

Q3V3G7

Predicted Effect

probably benign
Transcript: ENSMUST00000098661
AA Change: I184M

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096258
Gene: ENSMUSG00000074259
AA Change: I184M

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: I191M

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114530
Gene: ENSMUSG00000074259
AA Change: I191M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128944
AA Change: I192M

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116879
Gene: ENSMUSG00000074259
AA Change: I192M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129129
AA Change: I61M

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118901
Gene: ENSMUSG00000074259
AA Change: I61M

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmo	T	C	12: 37,407,626 (GRCm39)		probably benign	Het
Atp2c1	C	T	9: 105,330,041 (GRCm39)	G93D	probably damaging	Het
C2cd6	T	G	1: 59,101,660 (GRCm39)	Y333S	probably damaging	Het
Cacna1a	A	G	8: 85,263,067 (GRCm39)	E414G	possibly damaging	Het
Capn10	C	A	1: 92,868,106 (GRCm39)	T191K	probably benign	Het
Cd226	A	T	18: 89,287,187 (GRCm39)	R328S	probably damaging	Het
Cdk10	A	G	8: 123,954,397 (GRCm39)		probably null	Het
Cyp4a31	T	A	4: 115,435,228 (GRCm39)	V486D	probably damaging	Het
Dgke	A	T	11: 88,943,267 (GRCm39)	L241I	probably damaging	Het
Dnah6	G	T	6: 73,052,785 (GRCm39)	A2965E	probably damaging	Het
Fbn2	A	T	18: 58,205,743 (GRCm39)	C1112S	probably damaging	Het
Gm10228	T	A	16: 88,838,073 (GRCm39)	Y77F	unknown	Het
Gng3	T	C	19: 8,815,944 (GRCm39)	I25V	probably benign	Het
Hcar2	T	C	5: 124,002,582 (GRCm39)	N307S	probably benign	Het
Iars1	G	A	13: 49,863,134 (GRCm39)	E529K	probably damaging	Het
Ilvbl	C	T	10: 78,412,941 (GRCm39)		probably benign	Het
Itprid2	A	G	2: 79,465,981 (GRCm39)	Q33R	probably damaging	Het
Lrp1	T	C	10: 127,410,847 (GRCm39)	K1447R	probably benign	Het
Mmp20	A	G	9: 7,671,376 (GRCm39)	D426G	probably benign	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Or4f4b	G	A	2: 111,314,188 (GRCm39)	G138S	probably damaging	Het
Or51f2	C	T	7: 102,526,440 (GRCm39)	L38F	probably benign	Het
Pip4k2a	A	G	2: 19,002,779 (GRCm39)	S10P	probably benign	Het
Pth1r	A	T	9: 110,552,774 (GRCm39)		probably null	Het
Rprd1b	T	C	2: 157,892,080 (GRCm39)	I201T	probably damaging	Het
Rsbn1	A	G	3: 103,869,696 (GRCm39)	N719S	probably benign	Het
Sorcs1	C	T	19: 50,169,944 (GRCm39)	G939E	probably benign	Het
St8sia5	A	G	18: 77,336,196 (GRCm39)	K210E	probably damaging	Het
Trav3-1	G	A	14: 52,818,649 (GRCm39)	V108M	probably benign	Het
Washc4	T	C	10: 83,416,170 (GRCm39)	I820T	possibly damaging	Het

Other mutations in Gramd2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03032:Gramd2a	APN	9	59,619,410 (GRCm39)	missense	probably benign	0.22
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

2014-01-21