Mutagenetix > Incidental Mutation

Incidental Mutation 'R0571:Ghsr'

46437

Institutional Source

Beutler Lab

Gene Symbol

Ghsr

Ensembl Gene

ENSMUSG00000051136

Gene Name

growth hormone secretagogue receptor

Synonyms

C530020I22Rik, Ghsr1a

MMRRC Submission

038762-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0571 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

27425500-27432159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27426165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 74 (R74C)

Ref Sequence

ENSEMBL: ENSMUSP00000061153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057186]

AlphaFold

Q99P50

Predicted Effect

probably damaging
Transcript: ENSMUST00000057186
AA Change: R74C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061153
Gene: ENSMUSG00000051136
AA Change: R74C

Domain	Start	End	E-Value	Type
low complexity region	33	43	N/A	INTRINSIC
Pfam:7TM_GPCR_Srw	47	339	5.8e-12	PFAM
Pfam:7TM_GPCR_Srsx	53	336	9.4e-8	PFAM
Pfam:7tm_1	59	321	7.9e-51	PFAM
Pfam:7TM_GPCR_Srv	61	338	4.8e-9	PFAM

Meta Mutation Damage Score

0.8964

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	C	T	14: 54,500,706 (GRCm39)	T165I	possibly damaging	Het
Acsl5	A	G	19: 55,277,343 (GRCm39)		probably benign	Het
Actl6b	C	A	5: 137,565,046 (GRCm39)		probably benign	Het
Atg13	T	C	2: 91,509,063 (GRCm39)		probably benign	Het
Cabyr	A	G	18: 12,883,909 (GRCm39)	E132G	probably damaging	Het
Cadps2	C	T	6: 23,583,411 (GRCm39)	V389I	probably damaging	Het
Capn2	C	T	1: 182,298,325 (GRCm39)	V647I	probably benign	Het
Card10	G	T	15: 78,671,601 (GRCm39)	P621Q	possibly damaging	Het
Catsperb	C	G	12: 101,569,033 (GRCm39)	H902D	possibly damaging	Het
Cers3	A	G	7: 66,435,805 (GRCm39)	M255V	possibly damaging	Het
Cfh	T	C	1: 140,030,071 (GRCm39)		probably null	Het
Chd3	A	C	11: 69,252,495 (GRCm39)		probably null	Het
Chpf2	G	T	5: 24,795,425 (GRCm39)	R316L	probably damaging	Het
Clca3a1	T	A	3: 144,713,550 (GRCm39)	N694Y	probably damaging	Het
Cplane1	A	G	15: 8,289,277 (GRCm39)	D2909G	unknown	Het
Ctbp2	G	A	7: 132,616,534 (GRCm39)	L44F	probably damaging	Het
Cttnbp2	T	C	6: 18,381,102 (GRCm39)	M1365V	probably benign	Het
D130052B06Rik	G	A	11: 33,573,922 (GRCm39)	R173H	probably benign	Het
Dchs1	A	G	7: 105,421,203 (GRCm39)	F406L	probably damaging	Het
Ddx43	T	A	9: 78,321,145 (GRCm39)	N384K	possibly damaging	Het
Drd5	G	A	5: 38,477,270 (GRCm39)	V88M	probably damaging	Het
Eefsec	A	T	6: 88,274,881 (GRCm39)	F361Y	probably benign	Het
Epb41	T	C	4: 131,717,215 (GRCm39)	D313G	probably damaging	Het
Etl4	T	C	2: 20,748,580 (GRCm39)	M104T	probably damaging	Het
Fabp7	A	T	10: 57,661,637 (GRCm39)	T37S	probably benign	Het
Fam186b	T	C	15: 99,184,834 (GRCm39)	T30A	probably benign	Het
Fam83d	G	A	2: 158,627,611 (GRCm39)	W433*	probably null	Het
Fmnl2	A	T	2: 52,944,503 (GRCm39)	T161S	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Gtpbp4	A	T	13: 9,040,722 (GRCm39)		probably benign	Het
Hamp2	A	G	7: 30,623,511 (GRCm39)	L17P	possibly damaging	Het
Heatr1	C	A	13: 12,445,121 (GRCm39)	S1581R	probably damaging	Het
Hpf1	T	C	8: 61,353,147 (GRCm39)	V176A	probably benign	Het
Hydin	T	A	8: 111,240,735 (GRCm39)		probably null	Het
Ighg2c	G	A	12: 113,252,382 (GRCm39)	Q57*	probably null	Het
Itgb4	A	G	11: 115,870,594 (GRCm39)	N141S	possibly damaging	Het
Kif13b	G	T	14: 64,988,977 (GRCm39)	R786L	probably damaging	Het
Lhx3	C	A	2: 26,091,136 (GRCm39)	W391L	probably damaging	Het
Map1s	T	A	8: 71,365,551 (GRCm39)	V152D	probably damaging	Het
Map4	T	C	9: 109,865,834 (GRCm39)	M608T	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mfn1	T	C	3: 32,615,621 (GRCm39)	I328T	probably damaging	Het
Mif-ps9	G	A	19: 56,743,675 (GRCm39)		noncoding transcript	Het
Myh4	A	T	11: 67,141,157 (GRCm39)	I740F	possibly damaging	Het
Neo1	A	G	9: 58,893,069 (GRCm39)	V191A	probably benign	Het
Nfatc4	T	C	14: 56,067,485 (GRCm39)	V565A	probably damaging	Het
Nrxn2	G	C	19: 6,523,563 (GRCm39)	E525D	probably damaging	Het
Or12k8	T	C	2: 36,975,346 (GRCm39)	H138R	probably benign	Het
Pcdhb12	A	T	18: 37,570,261 (GRCm39)	D469V	probably damaging	Het
Pcdhb6	G	T	18: 37,468,167 (GRCm39)	V363L	probably benign	Het
Pkd1l2	T	C	8: 117,808,957 (GRCm39)	T78A	probably benign	Het
Primpol	T	G	8: 47,034,674 (GRCm39)	D418A	probably damaging	Het
Rbm12b1	G	A	4: 12,146,248 (GRCm39)	S740N	probably benign	Het
Rpe65	T	C	3: 159,305,986 (GRCm39)	L15P	probably damaging	Het
Rxrb	CGCGGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGCGGC	17: 34,251,106 (GRCm39)		probably benign	Het
Sectm1a	A	G	11: 120,959,928 (GRCm39)		probably benign	Het
Sft2d1	C	A	17: 8,545,782 (GRCm39)		probably benign	Het
Slc22a18	A	G	7: 143,045,598 (GRCm39)		probably benign	Het
Slu7	G	A	11: 43,332,405 (GRCm39)		probably null	Het
Smc4	T	C	3: 68,931,622 (GRCm39)	V572A	probably damaging	Het
Spire2	T	A	8: 124,080,855 (GRCm39)	I33N	probably damaging	Het
Tbck	T	A	3: 132,458,403 (GRCm39)	C678S	probably damaging	Het
Tnrc6b	T	C	15: 80,797,539 (GRCm39)	V1362A	probably damaging	Het
Ttn	T	C	2: 76,570,326 (GRCm39)	K25110E	possibly damaging	Het
Ugt2b35	A	G	5: 87,148,793 (GRCm39)	S15G	possibly damaging	Het
Upf3a	T	A	8: 13,842,184 (GRCm39)	I200K	probably damaging	Het
Vill	G	C	9: 118,899,701 (GRCm39)	G295A	possibly damaging	Het
Vmn1r191	A	T	13: 22,363,217 (GRCm39)	V179D	probably damaging	Het
Vmn2r74	T	C	7: 85,601,629 (GRCm39)	T670A	probably damaging	Het
Zfp169	T	C	13: 48,643,166 (GRCm39)	T654A	possibly damaging	Het
Zfp646	A	G	7: 127,481,138 (GRCm39)	E1105G	probably damaging	Het
Zyg11b	A	T	4: 108,117,239 (GRCm39)	Y334N	probably damaging	Het

Other mutations in Ghsr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Ghsr	APN	3	27,429,022 (GRCm39)	missense	possibly damaging	0.92
IGL00435:Ghsr	APN	3	27,426,532 (GRCm39)	missense	possibly damaging	0.91
IGL01376:Ghsr	APN	3	27,425,977 (GRCm39)	missense	probably benign
IGL02444:Ghsr	APN	3	27,426,189 (GRCm39)	missense	probably benign	0.17
IGL02650:Ghsr	APN	3	27,429,004 (GRCm39)	missense	probably benign	0.29
IGL02754:Ghsr	APN	3	27,426,645 (GRCm39)	missense	probably damaging	1.00
R0825:Ghsr	UTSW	3	27,428,776 (GRCm39)	missense	probably damaging	0.99
R1036:Ghsr	UTSW	3	27,428,869 (GRCm39)	missense	probably damaging	0.98
R1462:Ghsr	UTSW	3	27,426,025 (GRCm39)	missense	probably benign	0.01
R1462:Ghsr	UTSW	3	27,426,025 (GRCm39)	missense	probably benign	0.01
R1529:Ghsr	UTSW	3	27,426,631 (GRCm39)	missense	probably damaging	1.00
R1598:Ghsr	UTSW	3	27,426,426 (GRCm39)	missense	probably benign	0.27
R4846:Ghsr	UTSW	3	27,425,986 (GRCm39)	missense	probably benign
R4951:Ghsr	UTSW	3	27,426,510 (GRCm39)	missense	possibly damaging	0.83
R4993:Ghsr	UTSW	3	27,426,403 (GRCm39)	missense	possibly damaging	0.87
R5055:Ghsr	UTSW	3	27,426,421 (GRCm39)	missense	probably benign	0.28
R6843:Ghsr	UTSW	3	27,426,676 (GRCm39)	missense	probably benign
R6936:Ghsr	UTSW	3	27,426,474 (GRCm39)	missense	probably benign	0.02
R7068:Ghsr	UTSW	3	27,425,986 (GRCm39)	missense	probably benign	0.01
R7318:Ghsr	UTSW	3	27,426,616 (GRCm39)	missense	possibly damaging	0.91
R7510:Ghsr	UTSW	3	27,426,523 (GRCm39)	missense	probably benign	0.05
R7889:Ghsr	UTSW	3	27,426,315 (GRCm39)	missense	probably benign	0.00
R9514:Ghsr	UTSW	3	27,426,630 (GRCm39)	missense	possibly damaging	0.77
R9571:Ghsr	UTSW	3	27,426,664 (GRCm39)	missense	probably benign	0.00
R9741:Ghsr	UTSW	3	27,428,898 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AAGCCTGGCAACATGTGGAACG -3'
(R):5'- TGACAAGGATGACCAGCTTCACAC -3'

Sequencing Primer
(F):5'- TAACGTCACGCTGGACCTG -3'
(R):5'- TTGGTGACCACCACCTTGG -3'

Posted On

2013-06-11