Mutagenetix > Incidental Mutation

Incidental Mutation 'R9594:Ghrhr'

723157

Institutional Source

Beutler Lab

Gene Symbol

Ghrhr

Ensembl Gene

ENSMUSG00000004654

Gene Name

growth hormone releasing hormone receptor

Synonyms

Ghrfr

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9594 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55353280-55365515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55362470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 356 (I356V)

Ref Sequence

ENSEMBL: ENSMUSP00000068120 (fasta)

Gene Model

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

AlphaFold

P32082

Predicted Effect

probably benign
Transcript: ENSMUST00000063578
AA Change: I356V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654
AA Change: I356V

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

Predicted Effect

silent
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aida	T	C	1: 183,095,012 (GRCm39)	V151A	possibly damaging	Het
Akap3	T	C	6: 126,842,377 (GRCm39)	V332A	probably damaging	Het
Apobec3	T	A	15: 79,790,653 (GRCm39)	W332R		Het
Atf6	A	G	1: 170,668,402 (GRCm39)	V166A	probably benign	Het
Bcl6b	A	G	11: 70,118,858 (GRCm39)		probably null	Het
Brd3	G	T	2: 27,340,373 (GRCm39)	P612Q	probably damaging	Het
Btg1	T	A	10: 96,453,263 (GRCm39)	L26H	probably damaging	Het
Btg4	A	G	9: 51,030,560 (GRCm39)	D220G	probably damaging	Het
Cd209e	T	C	8: 3,901,183 (GRCm39)	D157G	probably benign	Het
Cdhr18	A	T	14: 13,814,959 (GRCm38)	L858Q	unknown	Het
Cimip2b	T	G	4: 43,427,329 (GRCm39)	T332P	unknown	Het
Dnah10	T	C	5: 124,907,107 (GRCm39)	L4269P	probably damaging	Het
Dync1li2	C	A	8: 105,154,752 (GRCm39)	K285N	possibly damaging	Het
Ehmt2	C	A	17: 35,118,740 (GRCm39)	Q198K	possibly damaging	Het
Foxn3	C	A	12: 99,359,294 (GRCm39)		probably benign	Het
Fstl4	C	T	11: 52,664,694 (GRCm39)	P8L	probably benign	Het
G6pc1	T	C	11: 101,258,660 (GRCm39)	I13T	possibly damaging	Het
Gm14410	A	T	2: 176,885,773 (GRCm39)	C164S	probably damaging	Het
Gpcpd1	A	T	2: 132,388,848 (GRCm39)	M308K	possibly damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,225,727 (GRCm39)	K2143E	probably benign	Het
Grm2	G	A	9: 106,524,408 (GRCm39)	T298I	probably damaging	Het
H2-T24	A	T	17: 36,326,455 (GRCm39)	L148Q	probably damaging	Het
Hcn2	C	T	10: 79,560,559 (GRCm39)	R297C	probably damaging	Het
Hic1	T	C	11: 75,056,757 (GRCm39)	T711A	possibly damaging	Het
Ide	T	C	19: 37,264,514 (GRCm39)	D672G		Het
Impg1	A	G	9: 80,288,923 (GRCm39)	F378S	probably damaging	Het
Lipe	T	C	7: 25,098,128 (GRCm39)		probably benign	Het
Lmo7	A	G	14: 102,156,136 (GRCm39)	D1270G	probably null	Het
Mbnl1	A	T	3: 60,520,859 (GRCm39)	H149L	probably damaging	Het
Mmel1	T	C	4: 154,978,592 (GRCm39)	Y675H	probably benign	Het
Mrfap1	C	A	5: 36,953,807 (GRCm39)	R44L	probably damaging	Het
Nherf2	G	T	17: 24,868,922 (GRCm39)	T68K	probably damaging	Het
Notch2	A	G	3: 98,041,889 (GRCm39)	T1303A	possibly damaging	Het
Olfm3	A	G	3: 114,883,785 (GRCm39)	D62G	probably damaging	Het
Or10ak13	T	C	4: 118,638,952 (GRCm39)	I277V	probably benign	Het
Or2i1	C	G	17: 37,508,308 (GRCm39)	A109P	possibly damaging	Het
Or5g27	C	T	2: 85,409,882 (GRCm39)	Q100*	probably null	Het
Or5l13	T	C	2: 87,780,544 (GRCm39)	E11G	probably damaging	Het
Or5p59	T	G	7: 107,702,663 (GRCm39)	I49S	probably damaging	Het
Or6c8b	T	A	10: 128,882,354 (GRCm39)	I193F	probably benign	Het
Pcbd2	A	G	13: 55,880,849 (GRCm39)	Y68C	probably benign	Het
Phf3	G	C	1: 30,869,003 (GRCm39)	Q682E	probably benign	Het
Ptpn6	C	A	6: 124,704,728 (GRCm39)	R294L	probably benign	Het
Ptprz1	T	A	6: 23,025,026 (GRCm39)	V1754D	probably damaging	Het
Rab36	T	A	10: 74,887,873 (GRCm39)	I248K	probably damaging	Het
Rabac1	A	G	7: 24,671,579 (GRCm39)	Y114H	probably benign	Het
Rag1	A	G	2: 101,474,701 (GRCm39)	V147A	probably benign	Het
Rnf150	T	A	8: 83,717,144 (GRCm39)	V217D	probably damaging	Het
Scarf2	G	T	16: 17,620,473 (GRCm39)	C101F	probably damaging	Het
Sh3glb2	C	T	2: 30,236,672 (GRCm39)	R230Q	probably damaging	Het
Slc13a1	A	G	6: 24,089,100 (GRCm39)	V550A	probably damaging	Het
Sp140	A	G	1: 85,560,235 (GRCm39)	N289S	possibly damaging	Het
Spmip6	T	C	4: 41,505,091 (GRCm39)	E207G		Het
Stac3	T	A	10: 127,338,654 (GRCm39)	M1K	probably null	Het
Stk31	C	T	6: 49,424,221 (GRCm39)	T845I	possibly damaging	Het
Sufu	T	C	19: 46,385,674 (GRCm39)	Y45H	probably damaging	Het
Tg	T	A	15: 66,607,109 (GRCm39)	C1834*	probably null	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Tpcn1	T	C	5: 120,686,021 (GRCm39)	T427A	possibly damaging	Het
Trim45	A	G	3: 100,830,265 (GRCm39)	H13R	probably benign	Het
Trpv5	A	G	6: 41,647,773 (GRCm39)	F347L	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Zfp236	G	T	18: 82,664,238 (GRCm39)	Q516K	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
R1173:Ghrhr	UTSW	6	55,365,254 (GRCm39)	nonsense	probably null
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
R9608:Ghrhr	UTSW	6	55,357,786 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAGAAGCCCAGAGGTCTGTG -3'
(R):5'- GATGAATGACTATCTGGGGAATGTG -3'

Sequencing Primer
(F):5'- TGTGGAGGACAGAGTCTCC -3'
(R):5'- GTGAAGATGAATGTATCAGTACTTGG -3'

Posted On

2022-08-09