Mutagenetix > Incidental Mutation

Incidental Mutation 'R0234:Ghrhr'

66004

Institutional Source

Beutler Lab

Gene Symbol

Ghrhr

Ensembl Gene

ENSMUSG00000004654

Gene Name

growth hormone releasing hormone receptor

Synonyms

Ghrfr

MMRRC Submission

038475-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0234 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

55353280-55365515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55356171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 88 (D88V)

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: D88V

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654
AA Change: D88V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203241
AA Change: D88V

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145224
Gene: ENSMUSG00000004654
AA Change: D88V

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: 98.8%
3x: 97.7%
10x: 94.1%
20x: 83.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,660,941 (GRCm39)	R197G	possibly damaging	Het
Acacb	A	T	5: 114,347,878 (GRCm39)	H983L	probably damaging	Het
Adal	T	A	2: 120,978,798 (GRCm39)	D139E	probably benign	Het
Adam6b	G	A	12: 113,454,230 (GRCm39)	R349H	probably damaging	Het
Agap1	A	G	1: 89,598,934 (GRCm39)	K331E	probably damaging	Het
B3gat1	A	G	9: 26,667,377 (GRCm39)	E203G	probably damaging	Het
Bsn	T	C	9: 107,993,595 (GRCm39)	E719G	possibly damaging	Het
Cap2	G	C	13: 46,791,498 (GRCm39)		probably null	Het
Ccni	A	G	5: 93,350,186 (GRCm39)	V31A	probably benign	Het
Cdcp3	T	A	7: 130,796,032 (GRCm39)		probably null	Het
Clns1a	T	A	7: 97,363,239 (GRCm39)	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Dsp	A	G	13: 38,371,869 (GRCm39)	N940S	probably benign	Het
Erbb2	T	C	11: 98,327,265 (GRCm39)	V1181A	probably benign	Het
Exoc4	T	C	6: 33,839,022 (GRCm39)	V686A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,305,384 (GRCm39)	V330A	possibly damaging	Het
Fbf1	A	C	11: 116,045,860 (GRCm39)	F245V	probably damaging	Het
Fut10	T	A	8: 31,726,225 (GRCm39)	F327I	probably damaging	Het
Galnt1	C	T	18: 24,387,690 (GRCm39)	P144S	probably damaging	Het
Garin4	T	C	1: 190,895,105 (GRCm39)	S513G	probably benign	Het
Greb1l	T	A	18: 10,560,331 (GRCm39)	C1864S	probably damaging	Het
H1f2	T	C	13: 23,923,106 (GRCm39)	I92T	probably benign	Het
Hps1	T	C	19: 42,750,992 (GRCm39)	E336G	probably damaging	Het
Irgc	C	A	7: 24,132,753 (GRCm39)	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,625,168 (GRCm39)	R590*	probably null	Het
Katnip	T	C	7: 125,394,557 (GRCm39)	V211A	probably benign	Het
Lmln	T	C	16: 32,886,694 (GRCm39)	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,065,042 (GRCm39)	Q179R	probably damaging	Het
Ltbr	A	C	6: 125,289,836 (GRCm39)	D119E	probably benign	Het
Mrc1	A	G	2: 14,284,705 (GRCm39)	T565A	possibly damaging	Het
Muc6	A	C	7: 141,235,939 (GRCm39)	N473K	possibly damaging	Het
Myocd	A	T	11: 65,078,066 (GRCm39)	D448E	probably benign	Het
Neil2	T	A	14: 63,420,975 (GRCm39)	I239F	probably damaging	Het
Npnt	A	G	3: 132,620,175 (GRCm39)	F123S	possibly damaging	Het
Or2g25	T	A	17: 37,970,997 (GRCm39)	I76F	probably damaging	Het
Or4f15	T	C	2: 111,813,645 (GRCm39)	Y258C	probably damaging	Het
Or52x1	C	A	7: 104,852,821 (GRCm39)	C243F	probably damaging	Het
Or56a5	T	C	7: 104,793,281 (GRCm39)	D73G	probably damaging	Het
Or5d37	T	A	2: 87,923,366 (GRCm39)	R305*	probably null	Het
Or8d1b	A	C	9: 38,887,547 (GRCm39)		probably null	Het
Or9i2	C	T	19: 13,815,902 (GRCm39)	V212M	possibly damaging	Het
Pcnx3	T	C	19: 5,722,646 (GRCm39)	T941A	probably benign	Het
Pitrm1	C	A	13: 6,625,115 (GRCm39)	Y864*	probably null	Het
Plcb4	T	C	2: 135,823,995 (GRCm39)	I844T	probably benign	Het
Ppp1r3b	T	A	8: 35,851,655 (GRCm39)	F165I	probably damaging	Het
Prr5	T	A	15: 84,587,322 (GRCm39)	F357L	probably damaging	Het
Rbm15b	T	C	9: 106,762,563 (GRCm39)	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,677,858 (GRCm39)	E602V	probably damaging	Het
Rimklb	T	C	6: 122,433,292 (GRCm39)	N343S	probably benign	Het
Rrp12	A	G	19: 41,860,199 (GRCm39)	L1008P	probably damaging	Het
Sec63	C	T	10: 42,674,794 (GRCm39)	R226C	probably damaging	Het
Sirpa	T	C	2: 129,457,388 (GRCm39)	V154A	probably damaging	Het
Slc22a23	G	A	13: 34,367,244 (GRCm39)	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,904,156 (GRCm39)		probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc5a5	A	T	8: 71,342,277 (GRCm39)	M258K	probably damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,505,711 (GRCm39)	D460G	possibly damaging	Het
Syn3	T	A	10: 86,284,750 (GRCm39)	I117F	possibly damaging	Het
Tead4	C	T	6: 128,220,365 (GRCm39)	A224T	probably damaging	Het
Tmtc3	A	T	10: 100,286,184 (GRCm39)	N546K	probably benign	Het
Tnn	T	A	1: 159,916,036 (GRCm39)	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,648,716 (GRCm39)	G62D	probably damaging	Het
Trf	T	C	9: 103,104,078 (GRCm39)		probably null	Het
Ubr5	T	C	15: 37,968,737 (GRCm39)	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Wipf3	T	G	6: 54,473,486 (GRCm39)	L458R	probably damaging	Het
Zfp236	T	C	18: 82,648,119 (GRCm39)	K966R	probably damaging	Het
Zfp27	T	A	7: 29,593,532 (GRCm39)	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,370,768 (GRCm39)	H496R	probably damaging	Het
Zfp467	A	T	6: 48,415,689 (GRCm39)	V321E	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
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
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

2013-08-19