Mutagenetix > Incidental Mutation

Incidental Mutation 'R5206:Glrp1'

402015

Institutional Source

Beutler Lab

Gene Symbol

Glrp1

Ensembl Gene

ENSMUSG00000062310

Gene Name

glutamine repeat protein 1

Synonyms

GRP-1

MMRRC Submission

042781-MU

Accession Numbers

Essential gene?

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

Stock #

R5206 (G1)

Quality Score

119

Status

Not validated

Chromosome

Chromosomal Location

88427593-88437788 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

GTGCTGCTGCTGCTGCTGCTGCTGCTG to GTGCTGCTGCTGCTGCTGCTGCTG 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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,272 (GRCm39)	E487G	probably benign	Het
2610021A01Rik	A	T	7: 41,276,009 (GRCm39)	K571*	probably null	Het
A2m	T	C	6: 121,651,766 (GRCm39)	V1278A	probably damaging	Het
Abcc2	T	C	19: 43,806,589 (GRCm39)	V801A	probably damaging	Het
Acod1	T	A	14: 103,292,731 (GRCm39)	D418E	possibly damaging	Het
Bsn	G	A	9: 107,982,572 (GRCm39)	A3727V	unknown	Het
Cmah	T	G	13: 24,648,267 (GRCm39)	F501V	probably damaging	Het
Csf2rb2	T	A	15: 78,176,952 (GRCm39)	I173L	probably benign	Het
Dnah12	T	C	14: 26,491,942 (GRCm39)	W1126R	probably damaging	Het
Dock5	G	T	14: 68,000,633 (GRCm39)	A1690E	probably benign	Het
Dop1b	T	C	16: 93,598,472 (GRCm39)	L1879P	probably damaging	Het
Eif3j2	A	T	18: 43,610,647 (GRCm39)	D55E	probably benign	Het
Fam83f	G	A	15: 80,576,255 (GRCm39)	G302D	possibly damaging	Het
Fus	G	A	7: 127,568,969 (GRCm39)	G40D	unknown	Het
Gxylt2	T	C	6: 100,781,576 (GRCm39)	V417A	probably damaging	Het
Hhipl1	G	A	12: 108,278,437 (GRCm39)	R255H	probably damaging	Het
Ints8	A	T	4: 11,216,477 (GRCm39)	I838N	possibly damaging	Het
Lama5	C	A	2: 179,833,097 (GRCm39)	C1579F	probably damaging	Het
Med13	C	T	11: 86,210,705 (GRCm39)	R479H	probably damaging	Het
Or51ag1	A	T	7: 103,155,309 (GRCm39)	Y281*	probably null	Het
Or5b113	G	T	19: 13,342,429 (GRCm39)	G146C	possibly damaging	Het
Or5k15	G	T	16: 58,710,381 (GRCm39)	N67K	probably damaging	Het
Or6e1	T	A	14: 54,520,155 (GRCm39)	M66L	probably benign	Het
Or9g3	T	A	2: 85,589,967 (GRCm39)	Y251F	probably benign	Het
Pak6	A	G	2: 118,523,784 (GRCm39)	E313G	probably benign	Het
Pigs	T	A	11: 78,224,549 (GRCm39)	Y145N	probably damaging	Het
Pla2g2f	T	A	4: 138,479,662 (GRCm39)	D165V	probably benign	Het
Plbd1	C	T	6: 136,618,154 (GRCm39)	V133M	probably benign	Het
Ppp1r14bl	C	T	1: 23,141,183 (GRCm39)	G44R	probably benign	Het
Ryr3	T	C	2: 112,675,056 (GRCm39)	Y1352C	probably damaging	Het
Scamp1	C	T	13: 94,368,615 (GRCm39)	R51H	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Slc2a2	G	A	3: 28,762,756 (GRCm39)	V100M	probably damaging	Het
Slc38a10	C	G	11: 119,995,888 (GRCm39)	A1062P	probably damaging	Het
Snai1	T	C	2: 167,380,888 (GRCm39)	I127T	probably benign	Het
Stat4	G	A	1: 52,144,395 (GRCm39)	G692D	probably damaging	Het
Stc1	A	T	14: 69,269,048 (GRCm39)	D72V	probably damaging	Het
Tmc1	T	C	19: 20,804,024 (GRCm39)	N351S	probably damaging	Het
Trim28	A	G	7: 12,759,275 (GRCm39)	I130V	probably benign	Het
Trim39	A	G	17: 36,571,382 (GRCm39)	Y459H	probably damaging	Het
Ugt1a6b	C	A	1: 88,035,170 (GRCm39)	Y169*	probably null	Het
Vasp	T	C	7: 18,992,780 (GRCm39)		probably benign	Het
Vmn2r99	G	T	17: 19,598,868 (GRCm39)	G184V	probably benign	Het
Xrcc1	C	T	7: 24,266,988 (GRCm39)	T358I	probably damaging	Het
Zfp219	A	G	14: 52,247,022 (GRCm39)	V35A	probably benign	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
R4371:Glrp1	UTSW	1	88,430,997 (GRCm39)	small insertion	probably benign
R4471:Glrp1	UTSW	1	88,431,196 (GRCm39)	missense	unknown
R5183:Glrp1	UTSW	1	88,437,574 (GRCm39)	missense	unknown
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'- AAGTGGATTTTAAGTGTGGAACCC -3'
(R):5'- CAAGTGCCAAGGCTTAGCAG -3'

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

Posted On

2016-07-22