Mutagenetix > Incidental Mutation

Incidental Mutation 'R9605:Ghr'

726461

Institutional Source

Beutler Lab

Gene Symbol

Ghr

Ensembl Gene

ENSMUSG00000055737

Gene Name

growth hormone receptor

Synonyms

GHR/BP, GHBP

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3347237-3612834 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3362993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 160 (P160S)

Ref Sequence

ENSEMBL: ENSMUSP00000069457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069451] [ENSMUST00000110697] [ENSMUST00000110698] [ENSMUST00000161561] [ENSMUST00000161770]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000069451
AA Change: P160S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: P160S

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 damaging
Transcript: ENSMUST00000110697
AA Change: P160S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106325
Gene: ENSMUSG00000055737
AA Change: P160S

Domain	Start	End	E-Value	Type
Pfam:EpoR_lig-bind	43	152	5.4e-13	PFAM
FN3	159	249	3.99e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110698
AA Change: P160S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106326
Gene: ENSMUSG00000055737
AA Change: P160S

Domain	Start	End	E-Value	Type
Pfam:EpoR_lig-bind	43	152	5.4e-13	PFAM
FN3	159	249	3.99e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161561
AA Change: P160S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: P160S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161770
AA Change: P160S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125044
Gene: ENSMUSG00000055737
AA Change: P160S

Domain	Start	End	E-Value	Type
Pfam:EpoR_lig-bind	43	152	2.4e-13	PFAM
Blast:FN3	159	183	9e-9	BLAST

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 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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Aatk	T	C	11: 119,902,209 (GRCm39)	E729G	possibly damaging	Het
Acaa2	A	G	18: 74,932,230 (GRCm39)	T290A	probably benign	Het
Acaca	C	T	11: 84,183,842 (GRCm39)	T1240I	probably benign	Het
Adgre1	A	G	17: 57,718,083 (GRCm39)	N365S	probably benign	Het
Adipor1	A	G	1: 134,352,553 (GRCm39)	D108G	probably damaging	Het
Aebp2	A	G	6: 140,593,736 (GRCm39)	Q462R	probably damaging	Het
Afg2a	C	T	3: 37,505,930 (GRCm39)	P670S	probably damaging	Het
Arhgef4	A	G	1: 34,761,745 (GRCm39)	T334A	unknown	Het
Art5	T	C	7: 101,746,412 (GRCm39)	E280G	probably benign	Het
Bloc1s3	A	G	7: 19,241,457 (GRCm39)	S24P	possibly damaging	Het
C2	T	A	17: 35,081,958 (GRCm39)	N720I	possibly damaging	Het
Caprin2	T	C	6: 148,744,332 (GRCm39)	D1031G	probably damaging	Het
Catsper1	A	G	19: 5,387,785 (GRCm39)	T355A	probably benign	Het
Cd19	T	A	7: 126,010,057 (GRCm39)	E398D	possibly damaging	Het
Cdca8	T	C	4: 124,830,384 (GRCm39)	E31G	probably damaging	Het
Ceacam5	G	A	7: 17,493,520 (GRCm39)	V848M	probably damaging	Het
Chd8	A	T	14: 52,457,055 (GRCm39)	L971Q	probably damaging	Het
Ciao1	G	A	2: 127,087,684 (GRCm39)	T217I	probably damaging	Het
Cldn1	A	T	16: 26,181,924 (GRCm39)	I95N	probably damaging	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cluh	C	T	11: 74,558,772 (GRCm39)	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187 (GRCm39)	Q640L	probably benign	Het
Cspg4b	T	C	13: 113,456,503 (GRCm39)	S850P		Het
Cyp2c40	A	T	19: 39,766,443 (GRCm39)	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,674,672 (GRCm39)	M437L	probably benign	Het
D430041D05Rik	A	G	2: 104,087,189 (GRCm39)	S596P	probably benign	Het
Dagla	A	T	19: 10,233,053 (GRCm39)	V448D	probably damaging	Het
Ddx59	A	T	1: 136,344,594 (GRCm39)	E88D	probably benign	Het
Dock1	T	A	7: 134,384,141 (GRCm39)	F671I	possibly damaging	Het
Dtna	T	A	18: 23,764,454 (GRCm39)	V541D	probably damaging	Het
Eef2k	T	C	7: 120,491,170 (GRCm39)	F552S	probably damaging	Het
Erbb2	T	C	11: 98,311,746 (GRCm39)	V94A	possibly damaging	Het
Etl4	A	T	2: 20,771,345 (GRCm39)	I607F	possibly damaging	Het
Ets2	G	T	16: 95,516,121 (GRCm39)	E234*	probably null	Het
Fbp1	A	C	13: 63,019,023 (GRCm39)	V175G	probably damaging	Het
Fmn2	C	T	1: 174,436,194 (GRCm39)	Q722*	probably null	Het
Fnip1	G	T	11: 54,381,713 (GRCm39)	R288L	probably benign	Het
Glipr1	A	G	10: 111,832,801 (GRCm39)	S46P	probably damaging	Het
Kif19b	A	T	5: 140,455,461 (GRCm39)	T356S	probably benign	Het
Kif9	G	A	9: 110,346,710 (GRCm39)	R616H	probably benign	Het
Krt87	G	T	15: 101,336,484 (GRCm39)	C56*	probably null	Het
Ldlr	A	G	9: 21,646,626 (GRCm39)	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,621,420 (GRCm39)	D998V	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mrc1	A	G	2: 14,324,110 (GRCm39)	N1149S	probably benign	Het
Myo1c	T	A	11: 75,559,899 (GRCm39)	V661E	probably benign	Het
N4bp2	T	C	5: 65,963,879 (GRCm39)	S643P	probably benign	Het
Nbl1	T	A	4: 138,812,608 (GRCm39)	T75S	probably benign	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nqo2	T	A	13: 34,156,361 (GRCm39)	V25E	possibly damaging	Het
Oma1	G	T	4: 103,210,726 (GRCm39)	V411L	possibly damaging	Het
Or12e13	T	G	2: 87,663,478 (GRCm39)	F32V	probably benign	Het
Or5v1	T	A	17: 37,810,331 (GRCm39)	I263N	probably damaging	Het
Or8b12i	A	G	9: 20,082,093 (GRCm39)	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427 (GRCm39)	H398Q	probably damaging	Het
Pepd	A	C	7: 34,743,218 (GRCm39)	D419A	probably benign	Het
Pikfyve	A	T	1: 65,303,561 (GRCm39)	S1694C	probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Plec	A	T	15: 76,065,213 (GRCm39)	L1619Q	unknown	Het
Polq	A	G	16: 36,843,173 (GRCm39)	I236V	probably benign	Het
Pphln1-ps1	A	G	16: 13,495,087 (GRCm39)	D62G	probably benign	Het
Prkag3	T	G	1: 74,786,378 (GRCm39)	Q189P	probably damaging	Het
Prkcg	A	T	7: 3,359,360 (GRCm39)	M136L	probably benign	Het
Ptprn2	T	C	12: 117,125,278 (GRCm39)	L604P	probably benign	Het
Rab6b	A	T	9: 103,017,601 (GRCm39)	T31S	probably benign	Het
Rnf213	A	G	11: 119,359,879 (GRCm39)	N4424S		Het
Ryr3	A	T	2: 112,491,966 (GRCm39)	L3795Q	probably damaging	Het
Scg2	A	G	1: 79,412,936 (GRCm39)	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,286,093 (GRCm39)	N416S	probably damaging	Het
Sik3	T	A	9: 46,120,117 (GRCm39)	H735Q	probably benign	Het
Slain1	A	C	14: 103,902,112 (GRCm39)	T60P		Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc46a2	A	T	4: 59,914,056 (GRCm39)	V289E	probably damaging	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Sox30	A	G	11: 45,875,640 (GRCm39)	N464S	possibly damaging	Het
Spta1	A	G	1: 174,035,880 (GRCm39)	Y1062C	probably damaging	Het
Srrm3	A	G	5: 135,881,105 (GRCm39)	D135G	probably damaging	Het
Stat5b	T	A	11: 100,699,276 (GRCm39)	H25L	possibly damaging	Het
Synj2	A	G	17: 6,063,794 (GRCm39)	I513V	probably benign	Het
Syt11	T	A	3: 88,669,325 (GRCm39)	Q189L	probably benign	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Traf3ip2	T	A	10: 39,521,772 (GRCm39)	D443E	probably benign	Het
Traf6	G	T	2: 101,524,625 (GRCm39)	C235F	probably damaging	Het
Treh	A	G	9: 44,592,416 (GRCm39)	D47G	probably damaging	Het
Trpc4	C	A	3: 54,225,550 (GRCm39)	H966Q	probably benign	Het
Ttbk1	A	T	17: 46,784,516 (GRCm39)	D316E	possibly damaging	Het
Txndc16	A	T	14: 45,442,799 (GRCm39)	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,273,886 (GRCm39)		probably null	Het
Usp25	A	T	16: 76,874,046 (GRCm39)	I541F	probably damaging	Het
Xirp1	A	T	9: 119,847,274 (GRCm39)	D536E	possibly damaging	Het
Zfp51	A	G	17: 21,684,291 (GRCm39)	E302G	probably damaging	Het
Zfp648	A	T	1: 154,080,110 (GRCm39)	T90S	probably benign	Het
Zfp84	A	G	7: 29,476,264 (GRCm39)	T319A	possibly 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
R0387:Ghr	UTSW	15	3,349,373 (GRCm39)	missense	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
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'- ATGGAGTGACTCTTACCACTTTC -3'
(R):5'- CACTTGACAGCTGAGCAGAG -3'

Sequencing Primer
(F):5'- AGTGACTCTTACCACTTTCCATTTTG -3'
(R):5'- GAGTAAGCACTAAATTCTCTGCTTCC -3'

Posted On

2022-10-06