Mutagenetix > Incidental Mutation

Incidental Mutation 'R2232:Ghrhr'

240100

Institutional Source

Beutler Lab

Gene Symbol

Ghrhr

Ensembl Gene

ENSMUSG00000004654

Gene Name

growth hormone releasing hormone receptor

Synonyms

Ghrfr

MMRRC Submission

040233-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2232 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55353280-55365515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55362444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 347 (F347S)

Ref Sequence

ENSEMBL: ENSMUSP00000068120 (fasta)

Gene Model

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

AlphaFold

P32082

Predicted Effect

probably damaging
Transcript: ENSMUST00000063578
AA Change: F347S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654
AA Change: F347S

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

Predicted Effect

unknown
Transcript: ENSMUST00000203241
AA Change: S351P

SMART Domains

Protein: ENSMUSP00000145224
Gene: ENSMUSG00000004654
AA Change: S351P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204988

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	A	C	5: 121,657,795 (GRCm39)	D499E	possibly damaging	Het
Adamtsl2	G	A	2: 26,993,190 (GRCm39)	G740E	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Akap9	G	A	5: 4,096,603 (GRCm39)	V2493I	probably damaging	Het
Ankra2	T	C	13: 98,407,646 (GRCm39)	F199L	probably damaging	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Asns	A	G	6: 7,689,316 (GRCm39)	I62T	possibly damaging	Het
Celf3	T	A	3: 94,387,566 (GRCm39)		probably null	Het
Cyp4f37	A	G	17: 32,853,244 (GRCm39)	T403A	probably benign	Het
Dennd2b	T	C	7: 109,156,414 (GRCm39)	D112G	probably benign	Het
Dgkd	T	A	1: 87,857,464 (GRCm39)	S725R	probably benign	Het
Dnah5	G	A	15: 28,408,563 (GRCm39)		probably null	Het
Entrep2	G	A	7: 64,408,970 (GRCm39)	H475Y	probably damaging	Het
Ergic3	A	G	2: 155,859,736 (GRCm39)	T346A	probably damaging	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Htr2a	A	T	14: 74,882,469 (GRCm39)	I152F	probably damaging	Het
Il17re	T	C	6: 113,441,761 (GRCm39)	C219R	probably damaging	Het
Kansl2	A	G	15: 98,422,359 (GRCm39)	L403S	probably damaging	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
L1cam	T	A	X: 72,904,947 (GRCm39)	N503I	possibly damaging	Het
Lrrk2	A	G	15: 91,648,919 (GRCm39)	K1638E	probably benign	Het
Mcpt9	A	T	14: 56,265,445 (GRCm39)	C85S	probably benign	Het
Mindy3	C	A	2: 12,408,856 (GRCm39)	R73M	probably benign	Het
Mrgprb3	T	C	7: 48,292,770 (GRCm39)	I260M	probably benign	Het
Nes	T	A	3: 87,886,238 (GRCm39)	I1499N	possibly damaging	Het
Ninl	A	G	2: 150,791,970 (GRCm39)	V851A	probably benign	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or10j7	A	G	1: 173,011,182 (GRCm39)	I273T	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Pcare	A	G	17: 72,056,279 (GRCm39)	S1133P	probably benign	Het
Pdk3	G	T	X: 92,857,604 (GRCm39)	N59K	probably damaging	Het
Pigq	T	C	17: 26,151,183 (GRCm39)	H322R	probably benign	Het
Ppp3r1	G	A	11: 17,143,115 (GRCm39)	G68R	probably damaging	Het
Proz	A	G	8: 13,113,356 (GRCm39)	Y59C	probably damaging	Het
Prpf39	C	T	12: 65,090,786 (GRCm39)	R32*	probably null	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Pth2r	G	T	1: 65,375,928 (GRCm39)	W62L	probably damaging	Het
Scin	T	A	12: 40,118,930 (GRCm39)	K622I	probably damaging	Het
Serpinb6a	T	C	13: 34,109,303 (GRCm39)	K143R	probably damaging	Het
Ska1	G	T	18: 74,330,137 (GRCm39)		probably null	Het
Slc30a8	G	T	15: 52,169,960 (GRCm39)	R62S	probably benign	Het
Slc8a3	A	C	12: 81,361,994 (GRCm39)	I275S	probably damaging	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spmap2l	A	G	5: 77,207,252 (GRCm39)	I337V	possibly damaging	Het
Sspo	A	G	6: 48,425,606 (GRCm39)	I76V	probably damaging	Het
Sult1c2	G	T	17: 54,138,848 (GRCm39)	T243K	probably benign	Het
Svil	T	A	18: 5,046,640 (GRCm39)	M1K	probably null	Het
Tet3	T	C	6: 83,346,453 (GRCm39)	D1328G	probably damaging	Het
Tnfsf14	T	C	17: 57,500,876 (GRCm39)	D65G	probably benign	Het
Trmt9b	T	A	8: 36,979,707 (GRCm39)	C437S	probably damaging	Het
Ttc3	T	C	16: 94,260,831 (GRCm39)	S1439P	probably benign	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Usp20	A	G	2: 30,908,750 (GRCm39)	N777S	probably benign	Het
Zfp92	G	T	X: 72,466,358 (GRCm39)	L450F	possibly 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
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

PCR Primer
(F):5'- TGGCCCTTAAAAGTCAAGAAGC -3'
(R):5'- TGACTATCTGGGGAATGTGAAGATG -3'

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

Posted On

2014-10-15