Incidental Mutation 'R6915:Ghrhr'
ID 539278
Institutional Source Beutler Lab
Gene Symbol Ghrhr
Ensembl Gene ENSMUSG00000004654
Gene Name growth hormone releasing hormone receptor
Synonyms Ghrfr
MMRRC Submission 045036-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6915 (G1)
Quality Score 100.264
Status Validated
Chromosome 6
Chromosomal Location 55353280-55365515 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 55360104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063578] [ENSMUST00000203241]
AlphaFold P32082
Predicted Effect probably null
Transcript: ENSMUST00000063578
SMART Domains Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654

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

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 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 97% (63/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 C A 12: 88,422,390 (GRCm39) L334I probably damaging Het
Akap9 T A 5: 4,010,551 (GRCm39) M436K probably benign Het
Ankmy1 A C 1: 92,816,173 (GRCm39) F314V probably null Het
Arid5b G A 10: 68,022,042 (GRCm39) Q183* probably null Het
Atp8b4 A T 2: 126,200,834 (GRCm39) L778* probably null Het
BC024139 G T 15: 76,004,221 (GRCm39) N739K probably benign Het
Carns1 T G 19: 4,219,912 (GRCm39) H441P probably benign Het
Cby2 T A 14: 75,830,098 (GRCm39) T32S probably benign Het
Ccdc121rt3 A T 5: 112,502,523 (GRCm39) W394R probably damaging Het
Cfap70 T A 14: 20,459,153 (GRCm39) I693F probably benign Het
Cldn3 A G 5: 135,015,426 (GRCm39) Q43R probably damaging Het
Col7a1 C T 9: 108,796,686 (GRCm39) P1608L probably benign Het
Cr2 T A 1: 194,853,454 (GRCm39) Y28F probably benign Het
Cyp2c38 T A 19: 39,424,512 (GRCm39) I269F probably damaging Het
Dapk1 A T 13: 60,844,256 (GRCm39) I92F probably damaging Het
Dennd4a T A 9: 64,759,771 (GRCm39) L292* probably null Het
Dhx38 T C 8: 110,286,231 (GRCm39) E353G probably benign Het
Dnm3 T C 1: 162,145,966 (GRCm39) probably null Het
Dzip3 T C 16: 48,762,488 (GRCm39) I794V possibly damaging Het
Eif2b5 T A 16: 20,321,500 (GRCm39) V351D possibly damaging Het
Epg5 T A 18: 78,022,380 (GRCm39) V1041E probably benign Het
Exoc4 A G 6: 33,898,388 (GRCm39) K869R possibly damaging Het
Fat3 C A 9: 16,289,044 (GRCm39) V160F probably benign Het
Gak A T 5: 108,750,816 (GRCm39) Y365N probably benign Het
Gm21738 A G 14: 19,415,933 (GRCm38) M202T probably benign Het
Havcr2 C T 11: 46,366,738 (GRCm39) S177L probably benign Het
Hkdc1 G C 10: 62,237,711 (GRCm39) R353G possibly damaging Het
Ifi208 G A 1: 173,510,444 (GRCm39) G200S probably damaging Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Lair1 A T 7: 4,058,952 (GRCm39) V12E possibly damaging Het
Lipo3 T C 19: 33,562,293 (GRCm39) N26D probably damaging Het
Lyst T A 13: 13,900,629 (GRCm39) D3168E probably benign Het
Map6 G A 7: 98,917,454 (GRCm39) A76T probably damaging Het
Mcoln3 A T 3: 145,843,011 (GRCm39) probably null Het
Muc4 T C 16: 32,587,312 (GRCm39) F2718L probably benign Het
Nek11 C G 9: 105,270,256 (GRCm39) probably benign Het
Or10n7-ps1 T C 9: 39,597,832 (GRCm39) E136G unknown Het
Or2z8 C A 8: 72,811,574 (GRCm39) L17I probably benign Het
Or4d6 A G 19: 12,086,490 (GRCm39) V140A probably benign Het
Pcdh15 A T 10: 74,479,641 (GRCm39) E846V probably benign Het
Pcdhga8 C T 18: 37,858,998 (GRCm39) T18M probably benign Het
Per3 T C 4: 151,128,106 (GRCm39) M61V possibly damaging Het
Pfas C T 11: 68,883,007 (GRCm39) R759Q probably benign Het
Pitpnm1 A G 19: 4,156,947 (GRCm39) Y490C possibly damaging Het
Plcb4 A T 2: 135,789,035 (GRCm39) I272F possibly damaging Het
Ppp1r3b A G 8: 35,851,821 (GRCm39) Y220C probably damaging Het
Prkce G C 17: 86,800,835 (GRCm39) G417A probably damaging Het
Ptar1 A G 19: 23,680,501 (GRCm39) N106D probably damaging Het
Rbm15 C A 3: 107,239,627 (GRCm39) R257L probably benign Het
Rptor T G 11: 119,647,171 (GRCm39) M254R probably damaging Het
Runx1t1 T A 4: 13,865,257 (GRCm39) W350R probably damaging Het
Ryr2 T G 13: 11,760,487 (GRCm39) Y1532S probably damaging Het
Serpina1a C A 12: 103,820,110 (GRCm39) V379L possibly damaging Het
Sox8 C T 17: 25,786,888 (GRCm39) V272I probably damaging Het
Stard9 C T 2: 120,533,111 (GRCm39) H3123Y probably benign Het
Taar9 C T 10: 23,984,910 (GRCm39) E175K possibly damaging Het
Tinag T A 9: 76,908,897 (GRCm39) Y348F probably damaging Het
Tktl2 T C 8: 66,965,687 (GRCm39) I415T probably damaging Het
Tm7sf2 G T 19: 6,118,342 (GRCm39) R718S probably damaging Het
Tmem229a G T 6: 24,954,657 (GRCm39) Q366K probably benign Het
Txndc2 T C 17: 65,945,286 (GRCm39) D297G probably benign Het
Ulk4 A G 9: 121,087,886 (GRCm39) F269L probably benign Het
Vps39 A T 2: 120,151,512 (GRCm39) Y738* probably null 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
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
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

Sequencing Primer
Posted On 2018-11-06