Mutagenetix > Incidental Mutation

Incidental Mutation 'R7318:Ghsr'

565628

Institutional Source

Beutler Lab

Gene Symbol

Ghsr

Ensembl Gene

ENSMUSG00000051136

Gene Name

growth hormone secretagogue receptor

Synonyms

C530020I22Rik, Ghsr1a

MMRRC Submission

045414-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27425500-27432159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27426616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 224 (V224A)

Ref Sequence

ENSEMBL: ENSMUSP00000061153 (fasta)

Gene Model

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

AlphaFold

Q99P50

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057186
AA Change: V224A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061153
Gene: ENSMUSG00000051136
AA Change: V224A

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

0.6571

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,643,111 (GRCm39)	L260S	probably benign	Het
9130230L23Rik	A	T	5: 66,145,771 (GRCm39)	S113R	unknown	Het
Abcc5	G	A	16: 20,211,293 (GRCm39)	P557S	probably benign	Het
Acad11	A	G	9: 103,958,466 (GRCm39)	T245A	probably damaging	Het
Acap2	A	G	16: 30,946,155 (GRCm39)	F263L	probably damaging	Het
Ankle2	A	T	5: 110,385,632 (GRCm39)	N327I	probably benign	Het
Appl1	T	C	14: 26,685,617 (GRCm39)	E67G	probably benign	Het
Arfgef3	A	T	10: 18,506,211 (GRCm39)	C864S	possibly damaging	Het
Arhgap20	A	G	9: 51,751,802 (GRCm39)	I418V	probably benign	Het
Arhgef2	A	T	3: 88,539,610 (GRCm39)	N102Y	probably damaging	Het
Car9	G	T	4: 43,513,089 (GRCm39)	E431D	probably damaging	Het
Cbfa2t2	T	C	2: 154,342,374 (GRCm39)	I30T	probably benign	Het
Cd40	A	T	2: 164,904,255 (GRCm39)	D34V	possibly damaging	Het
Chrnb2	T	A	3: 89,670,674 (GRCm39)		probably null	Het
Chsy1	T	G	7: 65,759,977 (GRCm39)		probably null	Het
Cpne6	A	G	14: 55,751,751 (GRCm39)	T245A	possibly damaging	Het
Cpsf1	T	A	15: 76,481,475 (GRCm39)	K1159*	probably null	Het
Crisp1	T	A	17: 40,618,668 (GRCm39)	E64D	possibly damaging	Het
D3Ertd751e	A	G	3: 41,756,986 (GRCm39)		probably null	Het
Dennd11	A	G	6: 40,386,098 (GRCm39)	V333A	possibly damaging	Het
Dnah7b	T	A	1: 46,234,532 (GRCm39)	L1488Q	probably damaging	Het
Dnm2	G	A	9: 21,416,863 (GRCm39)	G799R	possibly damaging	Het
Elp2	G	A	18: 24,739,956 (GRCm39)	V61I	probably damaging	Het
Epb41l3	T	C	17: 69,573,135 (GRCm39)	L388P		Het
Fry	A	T	5: 150,360,458 (GRCm39)	S2035C	probably damaging	Het
Gas8	T	C	8: 124,257,707 (GRCm39)	F385L	probably benign	Het
Gstp2	T	A	19: 4,091,065 (GRCm39)	R85W	probably benign	Het
Ighv1-20	T	A	12: 114,687,810 (GRCm39)	I6F	possibly damaging	Het
Inpp4b	T	A	8: 82,798,374 (GRCm39)	M854K	probably damaging	Het
Kif15	A	G	9: 122,817,014 (GRCm39)	E538G	probably damaging	Het
Large2	T	C	2: 92,196,373 (GRCm39)	T485A	probably benign	Het
Lmo3	T	A	6: 138,398,363 (GRCm39)		probably benign	Het
Lyg1	G	A	1: 37,988,936 (GRCm39)	P95S	probably benign	Het
Lyst	A	G	13: 13,932,028 (GRCm39)	H3552R	probably benign	Het
Mtif2	C	T	11: 29,490,115 (GRCm39)	S385L	probably benign	Het
Muc4	A	T	16: 32,575,710 (GRCm39)	I1737F	unknown	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Mx1	G	T	16: 97,253,286 (GRCm39)	Q350K	probably benign	Het
Mylk3	G	T	8: 86,085,726 (GRCm39)	D269E	probably benign	Het
Myo3a	A	T	2: 22,448,332 (GRCm39)	K974*	probably null	Het
Nectin4	G	T	1: 171,208,031 (GRCm39)	R141L	probably benign	Het
Nlgn2	T	C	11: 69,716,795 (GRCm39)	H582R	probably damaging	Het
Or51ab3	T	A	7: 103,201,298 (GRCm39)	M102K	probably damaging	Het
Or51e1	T	A	7: 102,359,226 (GRCm39)	Y253*	probably null	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmd11	C	A	11: 80,347,128 (GRCm39)	L171I	probably benign	Het
Rad54l	A	G	4: 115,967,906 (GRCm39)	V152A	possibly damaging	Het
Ranbp2	T	A	10: 58,318,909 (GRCm39)	Y2473*	probably null	Het
Sertad1	T	C	7: 27,188,910 (GRCm39)	I77T	possibly damaging	Het
Sesn3	A	T	9: 14,219,873 (GRCm39)	E87D	probably damaging	Het
Slc30a5	A	T	13: 100,950,477 (GRCm39)	S260R	probably benign	Het
Slc6a12	G	A	6: 121,328,972 (GRCm39)	G111S	probably damaging	Het
Slc6a12	T	C	6: 121,328,978 (GRCm39)	Y113H	probably benign	Het
Spag17	T	G	3: 99,847,299 (GRCm39)	M76R	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Stard13	G	A	5: 150,986,038 (GRCm39)	Q491*	probably null	Het
Synpo2	T	C	3: 122,910,968 (GRCm39)	S226G	probably benign	Het
Tada2b	G	A	5: 36,641,331 (GRCm39)	T24I	probably benign	Het
Tafa1	T	C	6: 96,092,737 (GRCm39)		probably null	Het
Tmem51	TCCCC	TCCC	4: 141,764,996 (GRCm39)		probably null	Het
Tnnt1	T	A	7: 4,513,547 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,490,340 (GRCm39)	I196V	probably benign	Het
Utp20	T	A	10: 88,649,811 (GRCm39)	K466N	possibly damaging	Het
Wdr46	T	C	17: 34,160,859 (GRCm39)		probably null	Het
Zfp287	T	A	11: 62,605,104 (GRCm39)	Q601L	probably damaging	Het
Zfp410	T	C	12: 84,372,464 (GRCm39)	S97P	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
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'- CTCTTCCAGTTTGTCAGCGAG -3'
(R):5'- CTCTGGCAAAGAGCAAGCAG -3'

Sequencing Primer
(F):5'- CGTGTGAAGCTGGTCATCC -3'
(R):5'- CAGTGGGGGAAGAAAAGCCAC -3'

Posted On

2019-06-26