Mutagenetix > Incidental Mutation

Incidental Mutation 'R6199:Ghrhr'

503095

Institutional Source

Beutler Lab

Gene Symbol

Ghrhr

Ensembl Gene

ENSMUSG00000004654

Gene Name

growth hormone releasing hormone receptor

Synonyms

Ghrfr

MMRRC Submission

044339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6199 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55353280-55365515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55356173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 89 (T89S)

Ref Sequence

ENSEMBL: ENSMUSP00000145224 (fasta)

Gene Model

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

AlphaFold

P32082

Predicted Effect

probably benign
Transcript: ENSMUST00000063578
AA Change: T89S

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

SMART Domains

Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654
AA Change: T89S

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
AA Change: T89S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000145224
Gene: ENSMUSG00000004654
AA Change: T89S

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,407,887 (GRCm39)	D206V	possibly damaging	Het
Ank2	T	A	3: 126,797,655 (GRCm39)	D685V	probably damaging	Het
Baz2b	A	G	2: 59,809,019 (GRCm39)	S77P	probably benign	Het
Ccdc194	T	C	8: 71,978,109 (GRCm39)	N83D	probably benign	Het
Ceacam5	A	T	7: 17,448,810 (GRCm39)	T59S	probably benign	Het
Cemip2	G	A	19: 21,822,186 (GRCm39)	G1194S	probably benign	Het
Ces1e	A	C	8: 93,944,163 (GRCm39)	F218L	probably damaging	Het
Cilk1	T	C	9: 78,071,921 (GRCm39)	V531A	probably benign	Het
Cps1	TGTCCATTGGTC	TGTC	1: 67,201,774 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Eftud2	A	T	11: 102,730,883 (GRCm39)	V843E	probably damaging	Het
Fuca2	G	T	10: 13,381,783 (GRCm39)	W232L	probably damaging	Het
Gdf7	T	C	12: 8,348,832 (GRCm39)	D155G	unknown	Het
Ggcx	G	T	6: 72,407,122 (GRCm39)	V753F	possibly damaging	Het
Gpr151	T	C	18: 42,711,619 (GRCm39)	K353R	probably benign	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsdmc2	A	G	15: 63,696,962 (GRCm39)	I403T	probably benign	Het
H2-M1	A	G	17: 36,982,059 (GRCm39)	S181P	probably benign	Het
Igsf5	C	T	16: 96,222,939 (GRCm39)	S61L	possibly damaging	Het
Insc	A	T	7: 114,390,401 (GRCm39)		probably null	Het
Izumo4	G	A	10: 80,538,707 (GRCm39)	G53D	probably damaging	Het
Ksr1	G	A	11: 78,911,267 (GRCm39)	P693S	possibly damaging	Het
Lgals4	G	A	7: 28,535,317 (GRCm39)	R27H	probably damaging	Het
Lpcat2b	A	G	5: 107,581,171 (GRCm39)	R167G	probably benign	Het
Man1a	C	T	10: 53,890,552 (GRCm39)	V288I	possibly damaging	Het
Map2	T	G	1: 66,464,637 (GRCm39)	S1676A	probably damaging	Het
Mbl1	G	T	14: 40,875,572 (GRCm39)	V9F	unknown	Het
Mrgprb8	T	A	7: 48,039,051 (GRCm39)	C241S	probably benign	Het
Mrpl2	T	C	17: 46,960,012 (GRCm39)	L227P	probably damaging	Het
Mthfd1	T	A	12: 76,335,685 (GRCm39)	V253E	probably damaging	Het
Mthfd1	A	G	12: 76,350,454 (GRCm39)	H464R	probably damaging	Het
Mug2	T	A	6: 122,024,398 (GRCm39)	M490K	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Notch1	A	G	2: 26,359,911 (GRCm39)	V1268A	probably damaging	Het
Or6b2b	A	T	1: 92,419,264 (GRCm39)	I71N	possibly damaging	Het
Or8b12c	C	A	9: 37,716,177 (GRCm39)		probably null	Het
Pgm1	A	T	4: 99,836,151 (GRCm39)	I412F	probably damaging	Het
Plaur	A	T	7: 24,164,628 (GRCm39)	Q44L	possibly damaging	Het
Ppara	T	C	15: 85,671,434 (GRCm39)	Y112H	probably damaging	Het
Ppm1h	G	A	10: 122,756,644 (GRCm39)	V430M	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prph	A	G	15: 98,954,713 (GRCm39)	T35A	probably benign	Het
Prrc2c	C	T	1: 162,510,085 (GRCm39)	G780S	probably damaging	Het
Ptchd3	T	A	11: 121,721,908 (GRCm39)	N260K	probably benign	Het
Ptprz1	A	G	6: 23,002,470 (GRCm39)	D1520G	probably benign	Het
Samd9l	T	A	6: 3,376,686 (GRCm39)	I192L	probably benign	Het
Slc39a10	T	C	1: 46,874,993 (GRCm39)	D103G	probably damaging	Het
Smndc1	G	A	19: 53,372,063 (GRCm39)	T117M	probably benign	Het
Tesk2	A	G	4: 116,649,367 (GRCm39)	D159G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn2r108	A	T	17: 20,682,644 (GRCm39)	N853K	probably benign	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	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
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
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'- AACAACACCTCCCTGGGTATG -3'
(R):5'- ATCATTAATCCTGCACTGGGAG -3'

Sequencing Primer
(F):5'- GGATGTCCCTGGTCCTGACATC -3'
(R):5'- AGGTTGGTGCTATCAGTCATC -3'

Posted On

2018-02-27