Mutagenetix > Incidental Mutation

Incidental Mutation 'R4371:Glrp1'

325978

Institutional Source

Beutler Lab

Gene Symbol

Glrp1

Ensembl Gene

ENSMUSG00000062310

Gene Name

glutamine repeat protein 1

Synonyms

GRP-1

MMRRC Submission

041117-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4371 (G1)

Quality Score

117

Status

Not validated

Chromosome

Chromosomal Location

88427593-88437788 bp(-) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GTGCTGCTGCTGCTGCTGCTGCTGCTG to GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG at 88430997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000063883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067625]

AlphaFold

E9Q9S8

Predicted Effect

probably benign
Transcript: ENSMUST00000067625

SMART Domains

Protein: ENSMUSP00000063883
Gene: ENSMUSG00000062310

Domain	Start	End	E-Value	Type
coiled coil region	26	58	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Alox12b	G	A	11: 69,060,442 (GRCm39)	R666H	possibly damaging	Het
Atp9a	T	C	2: 168,491,535 (GRCm39)	T677A	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bckdk	C	T	7: 127,505,591 (GRCm39)	A238V	probably benign	Het
Brpf3	C	T	17: 29,055,594 (GRCm39)	A1181V	probably damaging	Het
C9	A	G	15: 6,520,965 (GRCm39)	D470G	probably damaging	Het
Camsap2	A	G	1: 136,215,701 (GRCm39)	F337L	probably damaging	Het
Cep152	G	A	2: 125,454,967 (GRCm39)	R278W	probably damaging	Het
Cfb	T	C	17: 35,079,290 (GRCm39)	K287R	probably damaging	Het
Chfr	G	A	5: 110,284,034 (GRCm39)	R36H	probably damaging	Het
Cyp4f14	T	C	17: 33,128,232 (GRCm39)	N261S	probably benign	Het
Drp2	A	T	X: 133,335,884 (GRCm39)		probably benign	Het
Dzip3	A	G	16: 48,763,818 (GRCm39)		probably null	Het
Emb	A	T	13: 117,405,466 (GRCm39)	D296V	probably damaging	Het
Epha1	T	C	6: 42,342,391 (GRCm39)	Y319C	probably damaging	Het
Flcn	C	T	11: 59,694,610 (GRCm39)	V121I	possibly damaging	Het
Gm6177	A	T	1: 160,720,741 (GRCm39)		noncoding transcript	Het
Hepacam2	A	T	6: 3,486,988 (GRCm39)	V123E	probably damaging	Het
Iqsec1	A	G	6: 90,671,588 (GRCm39)	S194P	probably damaging	Het
Kat6a	T	C	8: 23,401,945 (GRCm39)	I438T	possibly damaging	Het
Kcnmb2	A	G	3: 32,210,251 (GRCm39)		probably null	Het
Nbeal1	A	T	1: 60,329,105 (GRCm39)	K2174N	possibly damaging	Het
Ncapg	G	A	5: 45,835,797 (GRCm39)	M409I	probably benign	Het
Ocstamp	A	G	2: 165,239,233 (GRCm39)	S318P	possibly damaging	Het
Or5p79	C	T	7: 108,221,096 (GRCm39)	L26F	probably benign	Het
Phactr2	A	G	10: 13,129,564 (GRCm39)	S235P	probably damaging	Het
Pom121l2	T	C	13: 22,166,409 (GRCm39)	S227P	probably benign	Het
Sdf2	C	T	11: 78,141,863 (GRCm39)	T66I	probably damaging	Het
Sptbn5	A	G	2: 119,896,475 (GRCm39)	C729R	probably damaging	Het
Sys1	T	C	2: 164,303,315 (GRCm39)	W10R	probably damaging	Het
Tfap4	A	G	16: 4,369,863 (GRCm39)	I4T	probably damaging	Het
Thrb	C	A	14: 18,030,275 (GRCm38)	Q340K	probably damaging	Het
Tnc	T	C	4: 63,888,588 (GRCm39)	Y1735C	probably damaging	Het
Ubr1	A	T	2: 120,725,547 (GRCm39)		probably null	Het

Other mutations in Glrp1

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02890:Glrp1	APN	1	88,437,510 (GRCm39)	splice site	probably null
IGL02997:Glrp1	APN	1	88,437,507 (GRCm39)	splice site	probably benign
R1824:Glrp1	UTSW	1	88,437,511 (GRCm39)	critical splice donor site	probably null
R2852:Glrp1	UTSW	1	88,430,997 (GRCm39)	small insertion	probably benign
R3155:Glrp1	UTSW	1	88,430,976 (GRCm39)	missense	unknown
R3156:Glrp1	UTSW	1	88,430,976 (GRCm39)	missense	unknown
R4471:Glrp1	UTSW	1	88,431,196 (GRCm39)	missense	unknown
R5183:Glrp1	UTSW	1	88,437,574 (GRCm39)	missense	unknown
R5206:Glrp1	UTSW	1	88,430,997 (GRCm39)	small deletion	probably benign
R5396:Glrp1	UTSW	1	88,431,066 (GRCm39)	small deletion	probably benign
R6223:Glrp1	UTSW	1	88,431,164 (GRCm39)	nonsense	probably null
R7019:Glrp1	UTSW	1	88,430,890 (GRCm39)	missense	unknown
R7209:Glrp1	UTSW	1	88,431,004 (GRCm39)	missense	unknown
R8514:Glrp1	UTSW	1	88,431,042 (GRCm39)	small deletion	probably benign
Z1177:Glrp1	UTSW	1	88,437,524 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- AGTGGATTTTAAGTGTGGAACCC -3'
(R):5'- CAAGTGCCAAGGCTTAGCAG -3'

Sequencing Primer
(F):5'- AAGTGTGGAACCCATGTCTATG -3'
(R):5'- TGGGGATCTTAGACTAATACCCAG -3'

Posted On

2015-07-06