Mutagenetix > Incidental Mutation

Incidental Mutation 'R1144:Grp'

102337

Institutional Source

Beutler Lab

Gene Symbol

Grp

Ensembl Gene

ENSMUSG00000024517

Gene Name

gastrin releasing peptide

Synonyms

BLP

MMRRC Submission

039217-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1144 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66005891-66019667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66013041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 69 (D69G)

Ref Sequence

ENSEMBL: ENSMUSP00000133437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025395] [ENSMUST00000173530] [ENSMUST00000173985]

AlphaFold

Q8R1I2

Predicted Effect

probably damaging
Transcript: ENSMUST00000025395
AA Change: D69G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025395
Gene: ENSMUSG00000024517
AA Change: D69G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Bombesin	43	56	9.1e-10	PFAM
low complexity region	82	95	N/A	INTRINSIC
low complexity region	98	112	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173530
AA Change: D69G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139014
Gene: ENSMUSG00000024517
AA Change: D69G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Bombesin	43	56	1.2e-11	PFAM
low complexity region	82	95	N/A	INTRINSIC
low complexity region	98	112	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173985
AA Change: D69G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133437
Gene: ENSMUSG00000024517
AA Change: D69G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Bombesin	43	56	3.5e-11	PFAM
low complexity region	82	95	N/A	INTRINSIC
low complexity region	98	112	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: This gene encodes a neuropeptide hormone that affects various biological processes such as neuroendocrine regulation, gastrointestinal secretion, nociception, cell proliferation and inflammation. The encoded protein undergoes proteolytic processing to generate multiple mature peptides with biological activity. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit attenuated scratching response to chloroquine, SLIGRL and BAM8-22. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,083 (GRCm39)		probably benign	Het
Abcc5	A	T	16: 20,241,188 (GRCm39)		probably benign	Het
Acsl5	A	C	19: 55,280,275 (GRCm39)	D516A	probably damaging	Het
Adcy1	G	A	11: 7,087,400 (GRCm39)	A425T	probably damaging	Het
Aebp1	A	G	11: 5,818,475 (GRCm39)	T107A	probably benign	Het
Arhgef33	T	C	17: 80,662,473 (GRCm39)	S219P	probably benign	Het
Atm	T	G	9: 53,422,998 (GRCm39)		probably benign	Het
C1ql2	A	C	1: 120,270,266 (GRCm39)	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,527,595 (GRCm39)		probably null	Het
Cmbl	A	G	15: 31,582,020 (GRCm39)	N6D	probably benign	Het
Cntn3	A	G	6: 102,219,087 (GRCm39)	V511A	possibly damaging	Het
Coq9	C	A	8: 95,569,251 (GRCm39)	R28S	probably benign	Het
Creld1	T	C	6: 113,460,922 (GRCm39)	F20S	probably benign	Het
Dcstamp	A	G	15: 39,623,764 (GRCm39)	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,052,131 (GRCm39)	I244K	probably benign	Het
Dnhd1	G	A	7: 105,362,238 (GRCm39)	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 77,887,739 (GRCm39)	C110S	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr1	T	G	8: 26,048,159 (GRCm39)	V172G	probably damaging	Het
Frem3	C	A	8: 81,338,513 (GRCm39)	Q269K	probably benign	Het
Frmd6	C	A	12: 70,923,942 (GRCm39)	H67N	probably damaging	Het
Fry	A	G	5: 150,341,929 (GRCm39)	T1532A	possibly damaging	Het
Git2	G	T	5: 114,891,375 (GRCm39)	S243R	probably benign	Het
Grid1	A	G	14: 35,284,633 (GRCm39)		probably benign	Het
Hmbox1	A	T	14: 65,063,132 (GRCm39)	L347Q	probably damaging	Het
Hsh2d	C	T	8: 72,947,436 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,333,897 (GRCm39)	S2018N	probably benign	Het
Kif13b	T	A	14: 64,951,566 (GRCm39)	V69D	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lmcd1	T	A	6: 112,287,712 (GRCm39)		probably benign	Het
Megf9	C	A	4: 70,452,861 (GRCm39)	A67S	probably benign	Het
Myo5b	G	A	18: 74,758,658 (GRCm39)	R213H	probably damaging	Het
Myo5c	T	A	9: 75,193,730 (GRCm39)	Y1162N	probably damaging	Het
Nphs1	A	G	7: 30,181,103 (GRCm39)		probably benign	Het
Ntrk1	G	A	3: 87,688,849 (GRCm39)	T568I	probably damaging	Het
Pcmtd1	A	G	1: 7,190,705 (GRCm39)	H58R	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Plxna4	A	T	6: 32,174,091 (GRCm39)	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,777,183 (GRCm39)	D483G	probably benign	Het
Prdm15	G	A	16: 97,609,908 (GRCm39)	R579C	probably damaging	Het
Prickle1	T	A	15: 93,410,342 (GRCm39)	R41W	probably damaging	Het
Rbm19	A	G	5: 120,261,081 (GRCm39)	D235G	possibly damaging	Het
Smco2	A	G	6: 146,772,638 (GRCm39)		probably benign	Het
Sned1	G	C	1: 93,208,298 (GRCm39)	G785R	probably damaging	Het
Stat4	A	G	1: 52,123,288 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,013,298 (GRCm39)	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,963,200 (GRCm39)	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,026 (GRCm39)		probably benign	Het
Tmem63b	T	A	17: 45,977,353 (GRCm39)	K383N	probably benign	Het
Trp53rka	C	A	2: 165,334,961 (GRCm39)		probably benign	Het
Trub1	G	A	19: 57,473,563 (GRCm39)	V207M	probably benign	Het
Ulk2	A	T	11: 61,690,886 (GRCm39)	C551S	possibly damaging	Het
Urb1	A	T	16: 90,573,206 (GRCm39)		probably null	Het
Vmn1r219	C	A	13: 23,347,383 (GRCm39)	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 63,997,541 (GRCm39)	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,312,098 (GRCm39)		probably benign	Het
Wars1	A	T	12: 108,854,291 (GRCm39)	L41*	probably null	Het
Washc2	G	A	6: 116,201,495 (GRCm39)	E64K	probably damaging	Het
Washc4	G	A	10: 83,416,194 (GRCm39)	R828Q	probably damaging	Het
Wdr59	A	T	8: 112,213,576 (GRCm39)	M313K	probably benign	Het
Wscd2	G	A	5: 113,699,151 (GRCm39)		probably null	Het
Zdhhc20	A	C	14: 58,094,135 (GRCm39)	L176V	probably benign	Het

Other mutations in Grp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4362001:Grp	UTSW	18	66,019,297 (GRCm39)	missense	probably benign	0.18
R0584:Grp	UTSW	18	66,006,766 (GRCm39)	missense	possibly damaging	0.79
R4865:Grp	UTSW	18	66,013,041 (GRCm39)	missense	probably damaging	1.00
R5085:Grp	UTSW	18	66,013,230 (GRCm39)	missense	probably benign
R6084:Grp	UTSW	18	66,013,008 (GRCm39)	missense	probably damaging	0.99
R6198:Grp	UTSW	18	66,013,057 (GRCm39)	missense	possibly damaging	0.96
R6325:Grp	UTSW	18	66,006,824 (GRCm39)	critical splice donor site	probably null

Predicted Primers

Posted On

2014-01-15