Mutagenetix > Incidental Mutation

Incidental Mutation 'R0387:Ghr'

31372

Institutional Source

Beutler Lab

Gene Symbol

Ghr

Ensembl Gene

ENSMUSG00000055737

Gene Name

growth hormone receptor

Synonyms

GHR/BP, GHBP

MMRRC Submission

038593-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3347237-3612834 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3349373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 602 (S602P)

Ref Sequence

ENSEMBL: ENSMUSP00000124064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069451] [ENSMUST00000161561]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069451
AA Change: S602P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: S602P

Domain	Start	End	E-Value	Type
Pfam:EpoR_lig-bind	43	152	3.6e-12	PFAM
FN3	159	249	3.99e0	SMART
transmembrane domain	274	296	N/A	INTRINSIC
Pfam:GHBP	325	636	2.1e-110	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161561
AA Change: S602P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: S602P

Domain	Start	End	E-Value	Type
Pfam:EpoR_lig-bind	43	152	3.6e-12	PFAM
FN3	159	249	3.99e0	SMART
transmembrane domain	274	296	N/A	INTRINSIC
Pfam:GHBP	325	628	1.8e-132	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.2%
20x: 85.0%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit retarded postnatal growth, proportionate dwarfism, decreased plasma insulin-like growth factor I levels, small pituitaries, reduced fecundity in females, and extended life-span. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,932,075 (GRCm39)		probably null	Het
Abcc9	T	A	6: 142,585,230 (GRCm39)	K825*	probably null	Het
Afp	T	C	5: 90,645,150 (GRCm39)	C189R	probably damaging	Het
Akap9	T	C	5: 4,001,678 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,753,975 (GRCm39)	T1652S	possibly damaging	Het
Atg4b	C	A	1: 93,714,278 (GRCm39)	Q354K	probably benign	Het
Atxn2	T	C	5: 121,940,206 (GRCm39)	S388P	possibly damaging	Het
C2cd3	T	A	7: 100,071,714 (GRCm39)		probably benign	Het
Cacna2d2	C	A	9: 107,391,080 (GRCm39)	T403K	probably damaging	Het
Cap2	C	T	13: 46,713,992 (GRCm39)	H79Y	probably damaging	Het
Car10	G	T	11: 93,473,847 (GRCm39)		probably null	Het
Ccno	T	C	13: 113,126,401 (GRCm39)	L290P	probably damaging	Het
Cfap69	T	C	5: 5,639,303 (GRCm39)	K624E	probably damaging	Het
Ctnna3	A	G	10: 64,421,909 (GRCm39)	M568V	probably benign	Het
Cyp1b1	C	A	17: 80,021,203 (GRCm39)	V180L	probably benign	Het
Cyp2u1	G	T	3: 131,089,201 (GRCm39)		probably null	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnm1	C	T	2: 32,210,593 (GRCm39)	G1S	possibly damaging	Het
Dnmt1	A	G	9: 20,829,509 (GRCm39)	L698P	probably damaging	Het
Dock10	C	A	1: 80,517,993 (GRCm39)	C1327F	probably damaging	Het
Dph3b-ps	A	G	13: 106,683,363 (GRCm39)		noncoding transcript	Het
Dpyd	G	A	3: 119,220,875 (GRCm39)	D949N	probably benign	Het
Dync2li1	A	G	17: 84,962,768 (GRCm39)	K345E	possibly damaging	Het
Eml2	T	A	7: 18,916,184 (GRCm39)		probably null	Het
Exoc7	A	G	11: 116,185,227 (GRCm39)		probably benign	Het
Faah	A	T	4: 115,862,889 (GRCm39)	C113*	probably null	Het
Fcf1	T	A	12: 85,019,776 (GRCm39)	D16E	probably benign	Het
Fcgbp	T	C	7: 27,790,879 (GRCm39)		probably benign	Het
Gm5114	T	C	7: 39,058,233 (GRCm39)	D462G	probably benign	Het
Gm8186	T	A	17: 26,318,000 (GRCm39)	S66C	probably damaging	Het
Gorab	C	T	1: 163,224,403 (GRCm39)	V133M	probably benign	Het
Gria1	G	A	11: 57,200,710 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,831,238 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,280,276 (GRCm39)	L378P	probably damaging	Het
Htr5b	A	T	1: 121,455,275 (GRCm39)	V215D	probably damaging	Het
Htra1	A	G	7: 130,581,208 (GRCm39)	T319A	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klrb1a	A	C	6: 128,586,697 (GRCm39)	H189Q	possibly damaging	Het
Lhfpl6	A	G	3: 52,950,749 (GRCm39)	T8A	probably benign	Het
Ly75	T	A	2: 60,136,748 (GRCm39)	Y1493F	probably benign	Het
Mfsd5	T	C	15: 102,189,531 (GRCm39)	I301T	possibly damaging	Het
Mlkl	C	T	8: 112,059,982 (GRCm39)	E135K	probably damaging	Het
Mrgprx2	A	C	7: 48,148,908 (GRCm39)	M1R	probably null	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Mtbp	A	G	15: 55,474,425 (GRCm39)	I280V	possibly damaging	Het
Myo5c	A	T	9: 75,192,303 (GRCm39)		probably benign	Het
Nos3	A	G	5: 24,572,583 (GRCm39)	K174R	probably damaging	Het
Oas2	A	T	5: 120,883,737 (GRCm39)		probably benign	Het
Or8b40	T	A	9: 38,027,066 (GRCm39)		probably null	Het
Pi4kb	G	C	3: 94,892,051 (GRCm39)	E256Q	probably benign	Het
Pik3c2a	T	A	7: 115,972,979 (GRCm39)	I739F	probably damaging	Het
Pla2r1	T	A	2: 60,262,945 (GRCm39)	K1031N	probably benign	Het
Plk4	A	T	3: 40,767,319 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,849,792 (GRCm39)	C349R	probably damaging	Het
Polq	G	T	16: 36,909,679 (GRCm39)	E2354D	probably damaging	Het
Prss22	A	G	17: 24,212,903 (GRCm39)	L278P	probably damaging	Het
Prss3l	A	G	6: 41,420,303 (GRCm39)	I141T	possibly damaging	Het
Ptprk	G	A	10: 28,230,625 (GRCm39)	V239I	possibly damaging	Het
Raph1	T	G	1: 60,549,655 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripor3	C	T	2: 167,825,692 (GRCm39)	W755*	probably null	Het
Rnd3	G	T	2: 51,038,243 (GRCm39)	D77E	probably damaging	Het
Ryr1	T	C	7: 28,782,792 (GRCm39)		probably benign	Het
Serpinb1a	C	T	13: 33,032,721 (GRCm39)	V63I	probably benign	Het
Six1	T	G	12: 73,092,815 (GRCm39)	Y129S	probably damaging	Het
Spata31d1a	G	A	13: 59,851,315 (GRCm39)	T271I	probably damaging	Het
Stab1	T	C	14: 30,870,058 (GRCm39)	D1387G	probably benign	Het
Stra6	T	A	9: 58,060,466 (GRCm39)	M625K	probably benign	Het
Syne1	T	C	10: 5,301,029 (GRCm39)	S900G	probably benign	Het
Tdpoz4	A	C	3: 93,704,007 (GRCm39)	K101N	probably benign	Het
Tigd2	T	C	6: 59,188,143 (GRCm39)	Y337H	probably benign	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Tspyl5	A	G	15: 33,687,081 (GRCm39)	I288T	probably damaging	Het
Ulk1	A	G	5: 110,936,663 (GRCm39)	V61A	possibly damaging	Het
Xxylt1	A	G	16: 30,776,194 (GRCm39)	Y381H	probably benign	Het
Zcchc9	T	A	13: 91,949,066 (GRCm39)	M12L	probably benign	Het
Zfp106	T	C	2: 120,358,953 (GRCm39)		probably null	Het
Zfp74	T	A	7: 29,634,179 (GRCm39)	T510S	probably benign	Het
Zfp808	A	G	13: 62,317,292 (GRCm39)	T14A	probably damaging	Het

Other mutations in Ghr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Ghr	APN	15	3,357,602 (GRCm39)	missense	probably benign	0.00
IGL01366:Ghr	APN	15	3,349,669 (GRCm39)	missense	probably damaging	1.00
IGL01446:Ghr	APN	15	3,362,837 (GRCm39)	missense	probably damaging	1.00
IGL01730:Ghr	APN	15	3,350,066 (GRCm39)	missense	probably damaging	1.00
IGL01908:Ghr	APN	15	3,349,929 (GRCm39)	nonsense	probably null
IGL02396:Ghr	APN	15	3,487,480 (GRCm39)	start codon destroyed	probably null	0.99
IGL02476:Ghr	APN	15	3,349,528 (GRCm39)	missense	probably damaging	1.00
IGL02863:Ghr	APN	15	3,357,584 (GRCm39)	nonsense	probably null
IGL03338:Ghr	APN	15	3,377,024 (GRCm39)	missense	probably damaging	1.00
Elfin	UTSW	15	3,370,409 (GRCm39)	missense	probably damaging	0.98
garden	UTSW	15	3,377,054 (GRCm39)	missense	probably benign	0.00
gnome	UTSW	15	3,418,128 (GRCm39)	critical splice donor site	probably null
R0334:Ghr	UTSW	15	3,370,580 (GRCm39)	splice site	probably benign
R0581:Ghr	UTSW	15	3,418,116 (GRCm39)	splice site	probably benign
R1185:Ghr	UTSW	15	3,357,544 (GRCm39)	missense	possibly damaging	0.50
R1185:Ghr	UTSW	15	3,357,544 (GRCm39)	missense	possibly damaging	0.50
R1185:Ghr	UTSW	15	3,357,544 (GRCm39)	missense	possibly damaging	0.50
R1216:Ghr	UTSW	15	3,349,337 (GRCm39)	missense	probably damaging	1.00
R1294:Ghr	UTSW	15	3,418,128 (GRCm39)	critical splice donor site	probably null
R1607:Ghr	UTSW	15	3,350,056 (GRCm39)	missense	probably damaging	1.00
R1743:Ghr	UTSW	15	3,349,723 (GRCm39)	missense	probably benign	0.06
R2006:Ghr	UTSW	15	3,357,464 (GRCm39)	missense	probably damaging	0.98
R2197:Ghr	UTSW	15	3,362,956 (GRCm39)	nonsense	probably null
R2274:Ghr	UTSW	15	3,349,507 (GRCm39)	missense	probably benign	0.00
R2332:Ghr	UTSW	15	3,349,891 (GRCm39)	missense	probably benign	0.16
R4283:Ghr	UTSW	15	3,362,930 (GRCm39)	missense	possibly damaging	0.73
R4519:Ghr	UTSW	15	3,362,970 (GRCm39)	missense	probably damaging	1.00
R4521:Ghr	UTSW	15	3,355,440 (GRCm39)	missense	probably damaging	1.00
R4714:Ghr	UTSW	15	3,349,879 (GRCm39)	missense	possibly damaging	0.91
R4717:Ghr	UTSW	15	3,349,235 (GRCm39)	missense	possibly damaging	0.81
R4724:Ghr	UTSW	15	3,355,422 (GRCm39)	missense	probably benign	0.31
R5087:Ghr	UTSW	15	3,349,622 (GRCm39)	missense	probably damaging	1.00
R5269:Ghr	UTSW	15	3,349,561 (GRCm39)	missense	probably benign	0.16
R5429:Ghr	UTSW	15	3,418,157 (GRCm39)	nonsense	probably null
R6012:Ghr	UTSW	15	3,370,409 (GRCm39)	missense	probably damaging	0.98
R6135:Ghr	UTSW	15	3,355,447 (GRCm39)	missense	probably benign	0.04
R6588:Ghr	UTSW	15	3,349,750 (GRCm39)	missense	probably benign	0.14
R7069:Ghr	UTSW	15	3,349,966 (GRCm39)	missense	probably damaging	1.00
R7074:Ghr	UTSW	15	3,362,873 (GRCm39)	missense	probably damaging	1.00
R7408:Ghr	UTSW	15	3,377,054 (GRCm39)	missense	probably benign	0.00
R7540:Ghr	UTSW	15	3,349,396 (GRCm39)	missense	possibly damaging	0.72
R7575:Ghr	UTSW	15	3,349,994 (GRCm39)	missense	probably damaging	1.00
R7822:Ghr	UTSW	15	3,487,439 (GRCm39)	missense	probably benign	0.00
R7922:Ghr	UTSW	15	3,370,556 (GRCm39)	missense	possibly damaging	0.56
R8221:Ghr	UTSW	15	3,362,901 (GRCm39)	missense	probably benign	0.37
R9041:Ghr	UTSW	15	3,357,530 (GRCm39)	missense	probably benign	0.31
R9074:Ghr	UTSW	15	3,370,470 (GRCm39)	missense	possibly damaging	0.76
R9467:Ghr	UTSW	15	3,357,506 (GRCm39)	missense	probably benign	0.05
R9579:Ghr	UTSW	15	3,349,612 (GRCm39)	missense	probably benign	0.03
R9605:Ghr	UTSW	15	3,362,993 (GRCm39)	missense	probably damaging	0.99
R9642:Ghr	UTSW	15	3,355,469 (GRCm39)	missense	probably benign	0.01
X0017:Ghr	UTSW	15	3,350,176 (GRCm39)	missense	probably damaging	1.00
X0064:Ghr	UTSW	15	3,349,694 (GRCm39)	missense	possibly damaging	0.90
Z1176:Ghr	UTSW	15	3,376,967 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGCCTTTCCCTTGCCATTAAAGATAGG -3'
(R):5'- TCGCCTCTACACCGATGAGTAATCC -3'

Sequencing Primer
(F):5'- AGGAAAGGCTACTGCATGATTTTG -3'
(R):5'- GACTTTTATGCCCAAGTAAGCGAC -3'

Posted On

2013-04-24