Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Ghrhr'

99692

Institutional Source

Beutler Lab

Gene Symbol

Ghrhr

Ensembl Gene

ENSMUSG00000004654

Gene Name

growth hormone releasing hormone receptor

Synonyms

Ghrfr

MMRRC Submission

039246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55353280-55365515 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 55365254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 416 (L416*)

Ref Sequence

ENSEMBL: ENSMUSP00000068120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063578] [ENSMUST00000203241]

AlphaFold

P32082

Predicted Effect

probably null
Transcript: ENSMUST00000063578
AA Change: L416*

SMART Domains

Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654
AA Change: L416*

Domain	Start	End	E-Value	Type
HormR	51	121	1.3e-26	SMART
Pfam:7tm_2	126	372	7.2e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203241

SMART Domains

Protein: ENSMUSP00000145224
Gene: ENSMUSG00000004654

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
HormR	51	121	8.4e-29	SMART
Pfam:7tm_2	126	374	8.7e-59	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.9%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygotes for a spontaneous null mutation exhibit reduced growth from 2 weeks of age, impaired growth hormone synthesis and release, obesity, decreased bone mass, reduced fertility in males, impaired first lactations, and extended life span. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam30	G	A	3: 98,070,222 (GRCm39)	S685N	probably benign	Het
Adamts12	T	C	15: 11,071,843 (GRCm39)	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,837 (GRCm39)	F81S	probably damaging	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Amz1	A	T	5: 140,737,691 (GRCm39)		probably null	Het
Anapc5	G	A	5: 122,926,481 (GRCm39)	A619V	possibly damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Bbox1	T	C	2: 110,095,956 (GRCm39)	D336G	probably damaging	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bpi	A	T	2: 158,109,660 (GRCm39)	I203F	probably benign	Het
Cd151	A	C	7: 141,050,569 (GRCm39)	T241P	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cdh23	G	A	10: 60,148,171 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dclre1b	A	C	3: 103,711,192 (GRCm39)	S240A	probably benign	Het
Ddc	A	C	11: 11,796,634 (GRCm39)		probably null	Het
Dkk1	T	C	19: 30,524,650 (GRCm39)	R252G	probably damaging	Het
Dmrtc2	T	A	7: 24,573,738 (GRCm39)	M191K	possibly damaging	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Emx1	T	C	6: 85,165,353 (GRCm39)		probably benign	Het
Fah	T	C	7: 84,250,344 (GRCm39)	M1V	probably null	Het
Fmo6	A	T	1: 162,753,710 (GRCm39)	M144K	probably damaging	Het
Frem1	A	G	4: 82,868,589 (GRCm39)	V1445A	probably benign	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gfm2	A	G	13: 97,301,708 (GRCm39)		probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Htra4	T	C	8: 25,520,635 (GRCm39)	D342G	possibly damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Impdh2	T	C	9: 108,439,028 (GRCm39)	F99S	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kazn	A	T	4: 141,886,349 (GRCm39)		probably benign	Het
Kcnq3	T	A	15: 65,871,891 (GRCm39)	T593S	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Magi3	A	G	3: 103,968,946 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Meox2	T	C	12: 37,159,151 (GRCm39)	C108R	possibly damaging	Het
Nlrp9c	C	A	7: 26,079,860 (GRCm39)	C722F	probably damaging	Het
Or2a5	T	C	6: 42,874,285 (GRCm39)	V300A	probably benign	Het
Pde10a	C	T	17: 9,139,378 (GRCm39)		probably benign	Het
Ppfia4	A	G	1: 134,260,021 (GRCm39)		probably benign	Het
Psg18	T	C	7: 18,088,742 (GRCm39)	M1V	probably null	Het
Qtrt1	A	G	9: 21,323,782 (GRCm39)	T136A	probably benign	Het
Retsat	T	C	6: 72,580,634 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Sfswap	G	A	5: 129,584,207 (GRCm39)		probably null	Het
Slc16a7	A	T	10: 125,067,241 (GRCm39)	L133I	possibly damaging	Het
Slc30a3	A	T	5: 31,244,154 (GRCm39)	M376K	probably damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Srbd1	C	T	17: 86,405,940 (GRCm39)	C620Y	probably null	Het
Trip10	T	A	17: 57,560,363 (GRCm39)	L100Q	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vdr	A	T	15: 97,767,214 (GRCm39)	Y185N	probably benign	Het
Vmn1r123	C	T	7: 20,896,257 (GRCm39)	P50S	probably damaging	Het
Vmn1r158	T	A	7: 22,489,870 (GRCm39)	H113L	probably benign	Het
Vmn2r12	A	T	5: 109,240,720 (GRCm39)	I131N	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Zbtb32	T	A	7: 30,290,692 (GRCm39)	E201V	possibly damaging	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zmynd11	T	A	13: 9,739,585 (GRCm39)	H437L	probably damaging	Het

Other mutations in Ghrhr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Ghrhr	APN	6	55,356,110 (GRCm39)	missense	probably benign	0.00
IGL01088:Ghrhr	APN	6	55,356,178 (GRCm39)	critical splice donor site	probably null
IGL01567:Ghrhr	APN	6	55,361,108 (GRCm39)	missense	probably damaging	1.00
IGL02351:Ghrhr	APN	6	55,361,138 (GRCm39)	missense	probably damaging	1.00
IGL02358:Ghrhr	APN	6	55,361,138 (GRCm39)	missense	probably damaging	1.00
IGL02588:Ghrhr	APN	6	55,360,395 (GRCm39)	missense	probably damaging	1.00
IGL03010:Ghrhr	APN	6	55,361,742 (GRCm39)	missense	probably damaging	1.00
R0068:Ghrhr	UTSW	6	55,357,849 (GRCm39)	splice site	probably benign
R0068:Ghrhr	UTSW	6	55,357,849 (GRCm39)	splice site	probably benign
R0234:Ghrhr	UTSW	6	55,356,171 (GRCm39)	missense	possibly damaging	0.47
R0234:Ghrhr	UTSW	6	55,356,171 (GRCm39)	missense	possibly damaging	0.47
R1174:Ghrhr	UTSW	6	55,365,254 (GRCm39)	nonsense	probably null
R1175:Ghrhr	UTSW	6	55,365,254 (GRCm39)	nonsense	probably null
R1613:Ghrhr	UTSW	6	55,356,682 (GRCm39)	missense	probably damaging	0.99
R2196:Ghrhr	UTSW	6	55,356,726 (GRCm39)	missense	probably damaging	1.00
R2232:Ghrhr	UTSW	6	55,362,444 (GRCm39)	missense	probably damaging	1.00
R3764:Ghrhr	UTSW	6	55,357,756 (GRCm39)	missense	probably damaging	0.98
R4618:Ghrhr	UTSW	6	55,358,739 (GRCm39)	missense	probably damaging	1.00
R4837:Ghrhr	UTSW	6	55,365,172 (GRCm39)	missense	probably damaging	1.00
R5422:Ghrhr	UTSW	6	55,365,188 (GRCm39)	missense	probably benign	0.00
R6199:Ghrhr	UTSW	6	55,356,173 (GRCm39)	missense	probably benign	0.03
R6915:Ghrhr	UTSW	6	55,360,104 (GRCm39)	splice site	probably null
R7632:Ghrhr	UTSW	6	55,361,727 (GRCm39)	missense	probably benign	0.26
R7966:Ghrhr	UTSW	6	55,356,083 (GRCm39)	missense	probably damaging	1.00
R8874:Ghrhr	UTSW	6	55,355,891 (GRCm39)	missense	probably benign
R9594:Ghrhr	UTSW	6	55,362,470 (GRCm39)	missense	probably benign	0.00
R9608:Ghrhr	UTSW	6	55,357,786 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

Posted On

2014-01-15