Mutagenetix > Incidental Mutation

Incidental Mutation 'R5703:Gramd2a'

451798

Institutional Source

Beutler Lab

Gene Symbol

Gramd2a

Ensembl Gene

ENSMUSG00000074259

Gene Name

GRAM domain containing 2A

Synonyms

Gramd2

MMRRC Submission

043183-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5703 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59587427-59626157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59615299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 13 (G13R)

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: G13R

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096258
Gene: ENSMUSG00000074259
AA Change: G13R

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: G20R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114530
Gene: ENSMUSG00000074259
AA Change: G20R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128944
AA Change: G21R

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116879
Gene: ENSMUSG00000074259
AA Change: G21R

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

SMART Domains

Protein: ENSMUSP00000118901
Gene: ENSMUSG00000074259

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133822

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,459,640 (GRCm39)	N605I	probably damaging	Het
Btd	C	T	14: 31,389,004 (GRCm39)	R242*	probably null	Het
Cdc42bpg	A	G	19: 6,372,703 (GRCm39)	D1502G	possibly damaging	Het
Chst2	A	G	9: 95,286,985 (GRCm39)	F454L	probably damaging	Het
Col16a1	G	A	4: 129,947,092 (GRCm39)	A146T	probably damaging	Het
Cyp3a11	A	T	5: 145,797,183 (GRCm39)	S399T	probably benign	Het
Dspp	C	T	5: 104,324,917 (GRCm39)	H427Y	possibly damaging	Het
Dtx4	A	T	19: 12,459,574 (GRCm39)	M410K	possibly damaging	Het
Ecpas	A	T	4: 58,877,171 (GRCm39)		probably null	Het
Epb41l2	C	T	10: 25,317,665 (GRCm39)	R61W	probably damaging	Het
Gbp6	T	C	5: 105,421,147 (GRCm39)	K553E	probably benign	Het
Git1	CCG	C	11: 77,395,494 (GRCm39)		probably null	Het
Gm13199	C	T	2: 5,867,259 (GRCm39)		probably benign	Het
Hoxa2	G	T	6: 52,140,243 (GRCm39)	Q248K	probably damaging	Het
Hycc1	A	T	5: 24,185,577 (GRCm39)		probably null	Het
Krt33b	T	C	11: 99,916,374 (GRCm39)	T228A	probably benign	Het
Loxhd1	A	G	18: 77,444,573 (GRCm39)	E324G	probably damaging	Het
Map3k20	A	G	2: 72,232,514 (GRCm39)	N390S	probably benign	Het
Mroh7	A	G	4: 106,565,757 (GRCm39)	Y126H	possibly damaging	Het
Muc4	G	A	16: 32,555,059 (GRCm39)	W15*	probably null	Het
Ndrg2	T	A	14: 52,147,579 (GRCm39)		probably null	Het
Ntsr1	T	C	2: 180,142,226 (GRCm39)	S6P	probably damaging	Het
Or5m10	T	C	2: 85,717,783 (GRCm39)	I213T	probably benign	Het
Or5p70	G	A	7: 107,994,707 (GRCm39)	V127I	probably benign	Het
Pcdhb6	A	T	18: 37,467,753 (GRCm39)	T225S	probably benign	Het
Rfng	C	A	11: 120,672,842 (GRCm39)	V294L	probably benign	Het
Scml4	C	T	10: 42,741,566 (GRCm39)		probably benign	Het
Slc5a2	A	G	7: 127,869,787 (GRCm39)	I407V	possibly damaging	Het
Strc	T	C	2: 121,201,295 (GRCm39)	T1267A	probably benign	Het
Tanc1	T	C	2: 59,626,341 (GRCm39)	V566A	probably damaging	Het
Tas1r2	T	C	4: 139,394,647 (GRCm39)	S468P	probably damaging	Het
Tenm2	T	A	11: 35,914,626 (GRCm39)	T2304S	probably benign	Het
Tirap	A	T	9: 35,100,054 (GRCm39)	L210Q	probably damaging	Het
Vav3	A	T	3: 109,248,557 (GRCm39)	Q68L	probably benign	Het
Vmn2r54	C	T	7: 12,363,594 (GRCm39)	S433N	probably benign	Het
Wars1	A	T	12: 108,841,047 (GRCm39)	Y244N	probably damaging	Het
Zc3h6	A	G	2: 128,835,372 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- TATACCCAGAGTAGTGTTTAGATGTG -3'
(R):5'- AAGGTCCCCTTGGTAGCC -3'

Sequencing Primer
(F):5'- AATGAGTTCCCTCTCAGAATGCTGG -3'
(R):5'- TGGTAGCCAGGTTATATCCCAAC -3'

Posted On

2017-01-03