Mutagenetix > Incidental Mutation

Incidental Mutation 'R7510:Ghsr'

582012

Institutional Source

Beutler Lab

Gene Symbol

Ghsr

Ensembl Gene

ENSMUSG00000051136

Gene Name

growth hormone secretagogue receptor

Synonyms

C530020I22Rik, Ghsr1a

MMRRC Submission

045583-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7510 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27425500-27432159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27426523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 193 (D193V)

Ref Sequence

ENSEMBL: ENSMUSP00000061153 (fasta)

Gene Model

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

AlphaFold

Q99P50

Predicted Effect

probably benign
Transcript: ENSMUST00000057186
AA Change: D193V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000061153
Gene: ENSMUSG00000051136
AA Change: D193V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b1	C	T	10: 98,829,758 (GRCm39)	R320C	probably benign	Het
Bend4	A	G	5: 67,584,727 (GRCm39)	F66L	unknown	Het
Brca2	T	C	5: 150,460,156 (GRCm39)	V477A	possibly damaging	Het
Brms1l	A	T	12: 55,892,107 (GRCm39)	K134*	probably null	Het
Catsper1	A	T	19: 5,389,578 (GRCm39)	T498S	probably benign	Het
Ccdc177	C	A	12: 80,804,457 (GRCm39)	V606L	unknown	Het
D030056L22Rik	G	T	19: 18,690,853 (GRCm39)	A56S	possibly damaging	Het
Disp1	T	C	1: 182,869,975 (GRCm39)	N815S	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fancf	A	G	7: 51,511,953 (GRCm39)	V17A	probably damaging	Het
Fastkd2	T	A	1: 63,776,948 (GRCm39)	H361Q	possibly damaging	Het
Furin	A	G	7: 80,043,333 (GRCm39)	S293P	probably damaging	Het
Gm14403	T	A	2: 177,200,403 (GRCm39)	N116K	probably benign	Het
Gpr31b	A	G	17: 13,270,557 (GRCm39)	L204P	probably damaging	Het
Hexim1	A	G	11: 103,008,067 (GRCm39)	E107G	probably benign	Het
Hspa14	T	C	2: 3,499,159 (GRCm39)	S212G	probably benign	Het
Il18r1	T	A	1: 40,514,035 (GRCm39)	H80Q	probably benign	Het
Itpr3	A	G	17: 27,308,013 (GRCm39)	T267A	probably damaging	Het
Kidins220	T	A	12: 25,042,268 (GRCm39)	H146Q	possibly damaging	Het
Larp4	T	C	15: 99,891,258 (GRCm39)	F228L	probably benign	Het
Ltbp1	T	A	17: 75,659,712 (GRCm39)	V1288E	probably damaging	Het
Madd	T	C	2: 91,008,321 (GRCm39)	T194A	possibly damaging	Het
Mlana	G	A	19: 29,682,072 (GRCm39)	G42S	probably benign	Het
Mlxipl	A	G	5: 135,161,972 (GRCm39)	E548G	possibly damaging	Het
Mmab	A	T	5: 114,573,283 (GRCm39)	C228S	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nrf1	C	T	6: 30,151,633 (GRCm39)	T490I	possibly damaging	Het
Numbl	A	G	7: 26,971,412 (GRCm39)		probably null	Het
Or12e13	T	A	2: 87,663,872 (GRCm39)	I163K	probably damaging	Het
Or13c7	A	G	4: 43,854,482 (GRCm39)	T58A	probably benign	Het
Or5bw2	C	T	7: 6,572,960 (GRCm39)		probably benign	Het
Or5v1b	T	A	17: 37,841,480 (GRCm39)	I204N	probably damaging	Het
Or6c3b	G	T	10: 129,527,789 (GRCm39)	N40K	probably damaging	Het
Or9g8	T	A	2: 85,607,153 (GRCm39)	V75D	probably damaging	Het
Papln	G	A	12: 83,818,947 (GRCm39)	D96N	probably damaging	Het
Pcdhb14	T	C	18: 37,582,645 (GRCm39)	Y584H	probably damaging	Het
Pde7b	T	C	10: 20,288,761 (GRCm39)	D310G	possibly damaging	Het
Plin5	T	A	17: 56,420,975 (GRCm39)	H230L	probably damaging	Het
Ppp1r13l	A	C	7: 19,102,726 (GRCm39)	E47A	possibly damaging	Het
Prdm5	C	T	6: 65,904,976 (GRCm39)	H536Y	probably damaging	Het
Prickle2	T	C	6: 92,353,451 (GRCm39)	R728G	possibly damaging	Het
Prkca	A	T	11: 107,874,820 (GRCm39)	V374E	possibly damaging	Het
Prss3	A	T	6: 41,352,044 (GRCm39)	L73*	probably null	Het
Prss51	G	A	14: 64,333,489 (GRCm39)	D33N	probably damaging	Het
Rfwd3	A	G	8: 112,006,659 (GRCm39)	V479A	probably damaging	Het
Rpl36a-ps1	G	A	14: 99,231,666 (GRCm39)	T24I	probably benign	Het
Rps6ka5	T	C	12: 100,582,327 (GRCm39)	I182V	possibly damaging	Het
Saa2	T	A	7: 46,402,933 (GRCm39)	D61E	probably damaging	Het
Samd3	A	T	10: 26,106,006 (GRCm39)	I22F	probably benign	Het
Sap130	C	T	18: 31,800,057 (GRCm39)	P403L	probably damaging	Het
Sap130	A	G	18: 31,844,268 (GRCm39)	T813A	probably damaging	Het
Scfd2	A	G	5: 74,372,988 (GRCm39)	F629S	probably damaging	Het
Sec61a1	A	T	6: 88,489,585 (GRCm39)	F119I	probably benign	Het
Serpinb9	T	A	13: 33,194,768 (GRCm39)	F175I	probably damaging	Het
Slc12a3	G	T	8: 95,092,477 (GRCm39)	C966F	probably damaging	Het
Sptbn4	A	G	7: 27,127,693 (GRCm39)	V169A	probably benign	Het
Synj1	A	G	16: 90,735,565 (GRCm39)	S1463P	probably benign	Het
Tfec	T	A	6: 16,835,232 (GRCm39)	H182L	probably benign	Het
Tigd5	T	C	15: 75,782,268 (GRCm39)	V210A	probably benign	Het
Tssc4	G	A	7: 142,623,718 (GRCm39)	E9K	possibly damaging	Het
Txk	C	G	5: 72,893,726 (GRCm39)	C18S	unknown	Het
Uaca	G	A	9: 60,757,487 (GRCm39)		probably null	Het
Vmn2r1	A	C	3: 63,993,922 (GRCm39)	K89N	probably damaging	Het
Zfp160	G	A	17: 21,246,655 (GRCm39)	E402K	probably benign	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
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
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'- TTCCAGTTTGTCAGCGAGAG -3'
(R):5'- ACCAAGCATCTTCACTGTCTG -3'

Sequencing Primer
(F):5'- TCACCATCACCGCGCTGAG -3'
(R):5'- TTCTGGTCCCTGAGCGAG -3'

Posted On

2019-10-17