Mutagenetix > Incidental Mutation

Incidental Mutation 'R9787:Garem2'

734390

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 #

R9787 (G1)

Quality Score

219.009

Status

Not validated

Chromosome

Chromosomal Location

30310194-30323378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30319219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 227 (P227L)

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: P227L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054208
Gene: ENSMUSG00000044576
AA Change: P227L

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,150,695 (GRCm39)	T26A	probably benign	Het
Arhgap27	A	G	11: 103,230,048 (GRCm39)	S239P	possibly damaging	Het
Bambi	T	C	18: 3,511,515 (GRCm39)	V112A	possibly damaging	Het
BC034090	T	A	1: 155,117,955 (GRCm39)	E54D	possibly damaging	Het
Cdin1	T	A	2: 115,505,236 (GRCm39)	L169Q	probably damaging	Het
Chst13	C	T	6: 90,286,074 (GRCm39)	R296H	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Ctbs	T	A	3: 146,160,109 (GRCm39)	V46E	probably damaging	Het
Cyp2b9	A	G	7: 25,900,259 (GRCm39)	I356V	probably benign	Het
Dot1l	A	G	10: 80,600,472 (GRCm39)	T40A	probably benign	Het
Dst	C	T	1: 34,219,524 (GRCm39)	T1988M	probably benign	Het
Fam184a	T	A	10: 53,626,864 (GRCm39)	D38V	possibly damaging	Het
Fank1	T	A	7: 133,463,887 (GRCm39)	F83I	probably damaging	Het
Fto	T	A	8: 92,211,886 (GRCm39)	W404R	probably damaging	Het
Gabra4	T	A	5: 71,791,004 (GRCm39)	R279S	possibly damaging	Het
Gfra4	C	A	2: 130,884,600 (GRCm39)	M1I	probably null	Het
Gin1	T	A	1: 97,703,211 (GRCm39)	H11Q	probably damaging	Het
Gli3	G	A	13: 15,900,386 (GRCm39)	G1258R	probably damaging	Het
Gsx1	T	C	5: 147,126,677 (GRCm39)	S167P	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Il7	G	A	3: 7,641,171 (GRCm39)	R82C	probably damaging	Het
Lair1	A	T	7: 4,013,794 (GRCm39)	V151E	probably damaging	Het
Lpar1	T	C	4: 58,437,349 (GRCm39)	D360G	probably benign	Het
Malrd1	T	A	2: 15,625,401 (GRCm39)	N345K	unknown	Het
Mbnl1	T	A	3: 60,503,086 (GRCm39)	N82K	probably damaging	Het
Mtdh	C	A	15: 34,123,844 (GRCm39)	T357N	probably benign	Het
Muc6	T	A	7: 141,227,748 (GRCm39)	K1306*	probably null	Het
Nsd1	T	A	13: 55,461,518 (GRCm39)	C2685S	probably benign	Het
Optn	T	A	2: 5,036,150 (GRCm39)	Q444L	probably damaging	Het
Or6a2	A	T	7: 106,600,899 (GRCm39)	L56H	probably damaging	Het
Pan2	T	A	10: 128,144,223 (GRCm39)	D157E	probably benign	Het
Pole	G	A	5: 110,465,866 (GRCm39)		probably null	Het
Stau2	A	T	1: 16,530,595 (GRCm39)	I108N	unknown	Het
Sugp2	A	G	8: 70,695,428 (GRCm39)	K134E	probably benign	Het
Tcaf3	C	T	6: 42,574,024 (GRCm39)	V63I	probably benign	Het
Tcf7	T	A	11: 52,173,773 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tubb2b	T	C	13: 34,312,409 (GRCm39)	D128G	probably benign	Het
Umodl1	A	T	17: 31,178,324 (GRCm39)	Q100L	probably damaging	Het
Unc79	T	A	12: 103,112,620 (GRCm39)	N2230K	probably benign	Het
Zc3hav1l	T	C	6: 38,272,101 (GRCm39)	T223A	probably benign	Het
Zfhx4	G	A	3: 5,455,506 (GRCm39)	D1167N	possibly damaging	Het
Zfp36	A	T	7: 28,077,344 (GRCm39)	L200Q	probably damaging	Het
Zswim9	T	A	7: 12,994,205 (GRCm39)	L650F	probably 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
R9199:Garem2	UTSW	5	30,319,471 (GRCm39)	missense	probably damaging	0.98
R9327:Garem2	UTSW	5	30,321,989 (GRCm39)	missense	probably benign
R9502:Garem2	UTSW	5	30,321,750 (GRCm39)	missense	possibly damaging	0.94
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'- AGATTCTGTGCGCCAAGACG -3'
(R):5'- TTGGAGATGATGCTGACCAG -3'

Sequencing Primer
(F):5'- GTGCGCCAAGACGACCAAG -3'
(R):5'- GCTTGTAGCAGTGTCCCTC -3'

Posted On

2022-11-14