Incidental Mutation 'R1174:Ghrhr'
ID 99807
Institutional Source Beutler Lab
Gene Symbol Ghrhr
Ensembl Gene ENSMUSG00000004654
Gene Name growth hormone releasing hormone receptor
Synonyms Ghrfr
MMRRC Submission 039247-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1174 (G1)
Quality Score 183
Status Not validated
Chromosome 6
Chromosomal Location 55353280-55365515 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 55365254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 416 (L416*)
Ref Sequence ENSEMBL: ENSMUSP00000068120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063578] [ENSMUST00000203241]
AlphaFold P32082
Predicted Effect probably null
Transcript: ENSMUST00000063578
AA Change: L416*
SMART Domains Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654
AA Change: L416*

DomainStartEndE-ValueType
HormR 51 121 1.3e-26 SMART
Pfam:7tm_2 126 372 7.2e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203241
SMART Domains Protein: ENSMUSP00000145224
Gene: ENSMUSG00000004654

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
HormR 51 121 8.4e-29 SMART
Pfam:7tm_2 126 374 8.7e-59 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Actn3 A G 19: 4,914,784 (GRCm39) L477P probably damaging Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Alpk1 T A 3: 127,474,459 (GRCm39) S515C probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cox4i1 C A 8: 121,400,789 (GRCm39) N151K probably benign Het
Cpeb4 T C 11: 31,870,472 (GRCm39) L432P probably damaging Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Fes A T 7: 80,027,699 (GRCm39) I815N probably damaging Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hdac1-ps A T 17: 78,799,507 (GRCm39) Y166F probably benign Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lypd6b C T 2: 49,833,609 (GRCm39) A83V possibly damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mfsd13a T A 19: 46,363,125 (GRCm39) I511N probably benign Het
Mrm3 T C 11: 76,140,850 (GRCm39) V286A probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Neurl4 T C 11: 69,794,547 (GRCm39) probably null Het
Pclo T C 5: 14,727,660 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Rgs12 T A 5: 35,123,809 (GRCm39) C531S probably benign Het
Rin1 C A 19: 5,105,231 (GRCm39) Q764K probably benign Het
Robo4 C T 9: 37,324,348 (GRCm39) R959W probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sos1 A C 17: 80,753,037 (GRCm39) Y323* probably null Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Tas2r140 T C 6: 133,031,834 (GRCm39) E308G probably benign Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tle4 C T 19: 14,445,626 (GRCm39) V207I probably benign Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vwa1 C T 4: 155,857,723 (GRCm39) G25D probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Other mutations in Ghrhr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2014-01-15