Mutagenetix > Incidental Mutation

Incidental Mutation 'R4846:Ghsr'

372152

Institutional Source

Beutler Lab

Gene Symbol

Ghsr

Ensembl Gene

ENSMUSG00000051136

Gene Name

growth hormone secretagogue receptor

Synonyms

C530020I22Rik, Ghsr1a

MMRRC Submission

042459-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4846 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

27425500-27432159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27425986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 14 (V14A)

Ref Sequence

ENSEMBL: ENSMUSP00000061153 (fasta)

Gene Model

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

AlphaFold

Q99P50

Predicted Effect

probably benign
Transcript: ENSMUST00000057186
AA Change: V14A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061153
Gene: ENSMUSG00000051136
AA Change: V14A

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

100% (60/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,393,392 (GRCm39)	H299L	probably damaging	Het
Abcb4	C	T	5: 8,985,180 (GRCm39)	A687V	probably benign	Het
Abtb3	A	G	10: 85,465,130 (GRCm39)	T657A	probably damaging	Het
Adam20	A	G	8: 41,248,048 (GRCm39)	T53A	probably benign	Het
Afg1l	G	A	10: 42,330,490 (GRCm39)	T59I	probably benign	Het
AI837181	A	G	19: 5,476,329 (GRCm39)	Q164R	probably benign	Het
Anapc15	T	A	7: 101,546,974 (GRCm39)	I12N	probably benign	Het
Ankrd55	A	C	13: 112,499,988 (GRCm39)	E278D	probably benign	Het
Axin2	A	G	11: 108,833,125 (GRCm39)	T437A	probably benign	Het
BC051665	T	C	13: 60,931,895 (GRCm39)	D168G	probably damaging	Het
Cd200	C	T	16: 45,212,664 (GRCm39)	R261H	probably benign	Het
Clk1	G	A	1: 58,460,261 (GRCm39)	S123L	probably benign	Het
Csrnp2	A	T	15: 100,382,571 (GRCm39)	D156E	probably damaging	Het
Ctss	C	T	3: 95,452,695 (GRCm39)	Q159*	probably null	Het
Dennd2b	C	A	7: 109,156,043 (GRCm39)	E236*	probably null	Het
Dip2a	A	G	10: 76,157,327 (GRCm39)	S93P	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ephb6	G	A	6: 41,593,743 (GRCm39)	R542Q	probably benign	Het
Fmo3	T	C	1: 162,781,880 (GRCm39)	D491G	possibly damaging	Het
Galnt14	A	T	17: 73,843,888 (GRCm39)	M140K	probably benign	Het
Gm17546	C	A	15: 95,727,843 (GRCm39)		probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hc	A	G	2: 34,909,682 (GRCm39)	V866A	probably benign	Het
Hoxb6	G	A	11: 96,190,348 (GRCm39)	G116R	probably damaging	Het
Hykk	A	G	9: 54,827,890 (GRCm39)	Y43C	probably damaging	Het
Jade2	T	C	11: 51,711,975 (GRCm39)	T495A	probably benign	Het
Kansl1	A	T	11: 104,233,798 (GRCm39)	V755E	possibly damaging	Het
Lrp2	T	A	2: 69,309,457 (GRCm39)	D2814V	probably damaging	Het
Mbd5	T	A	2: 49,147,009 (GRCm39)	N406K	probably damaging	Het
Met	A	T	6: 17,491,928 (GRCm39)	D230V	probably damaging	Het
Mrgprx2	A	T	7: 48,132,584 (GRCm39)	V78D	probably damaging	Het
Mrpl20	A	G	4: 155,892,993 (GRCm39)	T112A	possibly damaging	Het
Nek11	T	A	9: 105,040,362 (GRCm39)	E566D	probably damaging	Het
Nostrin	T	C	2: 69,005,923 (GRCm39)	S235P	probably damaging	Het
Npas4	C	A	19: 5,036,805 (GRCm39)	S453I	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Psg18	A	T	7: 18,084,711 (GRCm39)	Y128*	probably null	Het
Ptges3l	A	T	11: 101,310,010 (GRCm39)		probably benign	Het
Pus1	T	C	5: 110,927,796 (GRCm39)		probably benign	Het
Raf1	T	A	6: 115,621,544 (GRCm39)	S12C	possibly damaging	Het
Rps6-ps2	T	G	8: 89,533,206 (GRCm39)		noncoding transcript	Het
Slc5a4b	A	G	10: 75,898,073 (GRCm39)	L547P	probably damaging	Het
Socs3	A	G	11: 117,858,654 (GRCm39)	S135P	probably benign	Het
Spata31d1e	T	C	13: 59,890,047 (GRCm39)	D591G	probably benign	Het
Stra6l	G	A	4: 45,873,682 (GRCm39)	V281M	possibly damaging	Het
Suco	G	A	1: 161,661,977 (GRCm39)	T818I	possibly damaging	Het
Syde1	A	T	10: 78,424,731 (GRCm39)	V367D	probably damaging	Het
Tet3	A	T	6: 83,353,865 (GRCm39)	L932*	probably null	Het
Trpm7	G	A	2: 126,655,105 (GRCm39)	L1278F	possibly damaging	Het
Vmn1r168	A	T	7: 23,240,490 (GRCm39)	T116S	probably damaging	Het
Wfdc6b	A	G	2: 164,459,214 (GRCm39)	Q92R	possibly 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
R0571:Ghsr	UTSW	3	27,426,165 (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
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'- CATCGCTAATGTTCGCACCC -3'
(R):5'- GCCATGCTGGATAGGTAGAG -3'

Sequencing Primer
(F):5'- GCTAATGTTCGCACCCCCATTC -3'
(R):5'- CCATGCTGGATAGGTAGAGGTTGG -3'

Posted On

2016-03-01