Mutagenetix > Incidental Mutation

Incidental Mutation 'R9199:Garem2'

698094

Institutional Source

Beutler Lab

Gene Symbol

Garem2

Ensembl Gene

ENSMUSG00000044576

Gene Name

GRB2 associated regulator of MAPK1 subtype 2

Synonyms

Gareml, LOC242915, Fam59b

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R9199 (G1)

Quality Score

195.009

Status

Validated

Chromosome

Chromosomal Location

30310194-30323378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30319471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 311 (H311R)

Ref Sequence

ENSEMBL: ENSMUSP00000054208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058045] [ENSMUST00000156859]

AlphaFold

Q6PAJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000058045
AA Change: H311R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054208
Gene: ENSMUSG00000044576
AA Change: H311R

Domain	Start	End	E-Value	Type
Pfam:CABIT	29	337	1.2e-77	PFAM
low complexity region	379	405	N/A	INTRINSIC
low complexity region	464	486	N/A	INTRINSIC
low complexity region	524	534	N/A	INTRINSIC
low complexity region	538	553	N/A	INTRINSIC
low complexity region	569	588	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	674	684	N/A	INTRINSIC
low complexity region	686	696	N/A	INTRINSIC
PDB:2DKZ\|A	794	878	3e-30	PDB
Blast:SAM	812	879	6e-35	BLAST
SCOP:d1kw4a_	816	877	1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156859

SMART Domains

Protein: ENSMUSP00000120976
Gene: ENSMUSG00000025745

Domain	Start	End	E-Value	Type
Pfam:ECH_1	44	297	3.6e-42	PFAM
Pfam:ECH_2	49	225	8.6e-27	PFAM
Pfam:3HCDH_N	363	542	1e-54	PFAM
Pfam:3HCDH	544	639	7.7e-29	PFAM
low complexity region	706	720	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	T	16: 88,971,654 (GRCm39)		probably benign	Het
Abca9	A	T	11: 110,056,770 (GRCm39)	C17S	possibly damaging	Het
Acan	T	G	7: 78,736,057 (GRCm39)	F168V	probably damaging	Het
Acp7	A	G	7: 28,316,591 (GRCm39)	L128P	probably benign	Het
Agtpbp1	C	A	13: 59,613,808 (GRCm39)	M1044I	probably benign	Het
Arhgef3	A	G	14: 27,122,244 (GRCm39)	Q361R	possibly damaging	Het
Brdt	A	T	5: 107,498,029 (GRCm39)	R235*	probably null	Het
Cacna1d	A	G	14: 29,764,893 (GRCm39)	S2013P	probably benign	Het
Cacna2d4	T	A	6: 119,244,787 (GRCm39)	D274E	probably benign	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Ceacam5	C	G	7: 17,479,350 (GRCm39)	L156V	probably benign	Het
Cenpn	G	A	8: 117,664,014 (GRCm39)		probably null	Het
Cfap69	A	T	5: 5,668,952 (GRCm39)	V385E	possibly damaging	Het
Cldnd1	A	G	16: 58,553,070 (GRCm39)	H177R	probably damaging	Het
Cr1l	A	T	1: 194,786,177 (GRCm39)	V439D	probably benign	Het
Cul2	A	G	18: 3,423,577 (GRCm39)	N329S	probably benign	Het
Cyp2c66	A	G	19: 39,130,800 (GRCm39)	K138R	probably benign	Het
Ddx46	G	A	13: 55,825,342 (GRCm39)	E996K	probably damaging	Het
Dnah14	A	G	1: 181,478,566 (GRCm39)	K1444E	possibly damaging	Het
Evl	G	A	12: 108,647,814 (GRCm39)		probably null	Het
Flnc	C	T	6: 29,441,490 (GRCm39)	T424I	probably benign	Het
Gadd45gip1	T	A	8: 85,559,128 (GRCm39)	V70E	probably damaging	Het
Gm32742	G	C	9: 51,060,607 (GRCm39)	H899D	possibly damaging	Het
Gm5148	C	T	3: 37,768,989 (GRCm39)	C77Y	probably benign	Het
Gm5460	A	G	14: 33,758,393 (GRCm39)	D141G	possibly damaging	Het
Kcnj8	T	C	6: 142,512,118 (GRCm39)	N163S	probably damaging	Het
Klri1	A	T	6: 129,674,264 (GRCm39)	*249R	probably null	Het
Kmt5b	A	G	19: 3,865,525 (GRCm39)	D863G	probably damaging	Het
Ltbp2	G	T	12: 84,832,750 (GRCm39)	T1538K	probably benign	Het
Or51ah3	G	A	7: 103,210,143 (GRCm39)	G153D	probably damaging	Het
Or5b120	A	G	19: 13,480,436 (GRCm39)	H243R	probably damaging	Het
Pheta2	A	T	15: 82,227,877 (GRCm39)	E132V	probably damaging	Het
Pramel16	A	G	4: 143,675,656 (GRCm39)	L390P	probably damaging	Het
Ptchd3	A	G	11: 121,721,741 (GRCm39)	I205V	probably benign	Het
Rab8b	G	A	9: 66,758,641 (GRCm39)	A152V	probably damaging	Het
Rasef	T	C	4: 73,658,625 (GRCm39)	D343G	possibly damaging	Het
Rcan2	G	A	17: 44,264,423 (GRCm39)	V28I	probably benign	Het
Sec1	G	A	7: 45,328,009 (GRCm39)	T346M	probably benign	Het
Sgk1	T	A	10: 21,758,558 (GRCm39)	N7K	probably damaging	Het
Slc39a12	A	T	2: 14,394,321 (GRCm39)	I64F	possibly damaging	Het
Spock3	A	G	8: 63,798,764 (GRCm39)	T259A	probably damaging	Het
Sypl1	A	T	12: 33,016,463 (GRCm39)		probably benign	Het
Teddm2	G	T	1: 153,726,767 (GRCm39)	Q36K	probably damaging	Het
Tlr1	A	G	5: 65,083,534 (GRCm39)	S348P	possibly damaging	Het
Ttll12	A	G	15: 83,466,559 (GRCm39)	F336S	probably damaging	Het
Ttll8	G	A	15: 88,798,818 (GRCm39)	P639L	probably benign	Het
Usp24	T	C	4: 106,244,681 (GRCm39)	V1212A	probably damaging	Het
Vcan	C	A	13: 89,838,615 (GRCm39)	G2310*	probably null	Het
Vmn2r104	A	T	17: 20,262,097 (GRCm39)	N344K	probably damaging	Het
Zfp281	A	G	1: 136,553,643 (GRCm39)	N207S	probably benign	Het
Zfp534	T	A	4: 147,760,439 (GRCm39)	M77L	probably benign	Het
Zfp819	G	A	7: 43,267,203 (GRCm39)	S562N	probably benign	Het
Zmym1	C	T	4: 126,944,623 (GRCm39)	C188Y	possibly damaging	Het

Other mutations in Garem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0194:Garem2	UTSW	5	30,318,928 (GRCm39)	missense	probably damaging	1.00
R0458:Garem2	UTSW	5	30,319,180 (GRCm39)	missense	probably damaging	0.99
R1933:Garem2	UTSW	5	30,319,860 (GRCm39)	nonsense	probably null
R1955:Garem2	UTSW	5	30,313,268 (GRCm39)	missense	probably benign	0.36
R1970:Garem2	UTSW	5	30,322,172 (GRCm39)	nonsense	probably null
R2152:Garem2	UTSW	5	30,313,297 (GRCm39)	missense	probably damaging	0.99
R2153:Garem2	UTSW	5	30,313,297 (GRCm39)	missense	probably damaging	0.99
R2154:Garem2	UTSW	5	30,313,297 (GRCm39)	missense	probably damaging	0.99
R2202:Garem2	UTSW	5	30,319,762 (GRCm39)	missense	probably benign	0.43
R2270:Garem2	UTSW	5	30,321,972 (GRCm39)	missense	probably damaging	1.00
R2271:Garem2	UTSW	5	30,321,972 (GRCm39)	missense	probably damaging	1.00
R4348:Garem2	UTSW	5	30,310,366 (GRCm39)	missense	possibly damaging	0.63
R4439:Garem2	UTSW	5	30,318,344 (GRCm39)	missense	possibly damaging	0.94
R4665:Garem2	UTSW	5	30,319,665 (GRCm39)	missense	probably damaging	0.98
R4666:Garem2	UTSW	5	30,319,665 (GRCm39)	missense	probably damaging	0.98
R5733:Garem2	UTSW	5	30,321,336 (GRCm39)	missense	probably damaging	1.00
R5851:Garem2	UTSW	5	30,319,288 (GRCm39)	missense	probably damaging	1.00
R6416:Garem2	UTSW	5	30,321,735 (GRCm39)	nonsense	probably null
R6998:Garem2	UTSW	5	30,319,168 (GRCm39)	missense	possibly damaging	0.88
R8080:Garem2	UTSW	5	30,313,385 (GRCm39)	missense	probably damaging	1.00
R9031:Garem2	UTSW	5	30,313,262 (GRCm39)	missense	possibly damaging	0.93
R9327:Garem2	UTSW	5	30,321,989 (GRCm39)	missense	probably benign
R9502:Garem2	UTSW	5	30,321,750 (GRCm39)	missense	possibly damaging	0.94
R9787:Garem2	UTSW	5	30,319,219 (GRCm39)	missense	probably damaging	1.00
R9789:Garem2	UTSW	5	30,319,330 (GRCm39)	missense	probably damaging	1.00
R9790:Garem2	UTSW	5	30,319,747 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATCTGCATGAACCACCGC -3'
(R):5'- TAATCCTGATCGCTGTCGC -3'

Sequencing Primer
(F):5'- AACGAGAGCCTGAGCCTG -3'
(R):5'- GGCAAAGCGGGACCCAG -3'

Posted On

2022-02-07