Incidental Mutation 'R1174:Ghrhr'
ID99807
Institutional Source Beutler Lab
Gene Symbol Ghrhr
Ensembl Gene ENSMUSG00000004654
Gene Namegrowth hormone releasing hormone receptor
SynonymsGhrfr
MMRRC Submission 039247-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1174 (G1)
Quality Score183
Status Not validated
Chromosome6
Chromosomal Location55376295-55388530 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 55388269 bp
ZygosityHeterozygous
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]
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: 17,117,582 H214L probably benign Het
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
Actn3 A G 19: 4,864,756 L477P probably damaging Het
Adamts12 T C 15: 11,071,757 V129A probably benign Het
Agxt2 T C 15: 10,373,751 F81S probably damaging Het
Alpk1 T A 3: 127,680,810 S515C probably damaging Het
Bivm A G 1: 44,126,782 T131A probably benign Het
Borcs5 T A 6: 134,710,133 N150K probably damaging Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cox4i1 C A 8: 120,674,050 N151K probably benign Het
Cpeb4 T C 11: 31,920,472 L432P probably damaging Het
Dnajb11 T A 16: 22,870,673 D281E probably damaging Het
Eml6 A G 11: 29,749,824 S1771P possibly damaging Het
Fes A T 7: 80,377,951 I815N probably damaging Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm10093 A T 17: 78,492,078 Y166F probably benign Het
Gm1818 A G 12: 48,556,199 noncoding transcript Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Idh1 G T 1: 65,161,160 N348K probably benign Het
Klf6 A G 13: 5,861,712 D25G probably benign Het
Laptm4a T C 12: 8,936,716 V258A probably damaging Het
Lypd6b C T 2: 49,943,597 A83V possibly damaging Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Mfsd13a T A 19: 46,374,686 I511N probably benign Het
Mrm3 T C 11: 76,250,024 V286A probably damaging Het
Muc6 C T 7: 141,648,101 G708S probably damaging Het
Neurl4 T C 11: 69,903,721 probably null Het
Pclo T C 5: 14,677,646 probably benign Het
Pcnt A T 10: 76,393,044 probably null Het
Pik3r4 G T 9: 105,663,174 G754C probably damaging Het
Qtrt1 A G 9: 21,412,486 T136A probably benign Het
Rgs12 T A 5: 34,966,465 C531S probably benign Het
Rin1 C A 19: 5,055,203 Q764K probably benign Het
Robo4 C T 9: 37,413,052 R959W probably damaging Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Serpinb9d C T 13: 33,200,625 P195L probably benign Het
Sos1 A C 17: 80,445,608 Y323* probably null Het
Ssxb8 T G X: 8,689,823 H88P probably damaging Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Tas2r140 T C 6: 133,054,871 E308G probably benign Het
Tdo2 A T 3: 81,974,376 S40R probably damaging Het
Tle4 C T 19: 14,468,262 V207I probably benign Het
Txlnb A G 10: 17,842,756 N445S probably benign Het
Ubap2l A T 3: 90,023,500 S413T probably benign Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vmn2r12 A T 5: 109,092,854 I131N probably benign Het
Vwa1 C T 4: 155,773,266 G25D probably damaging Het
Zfp185 A T X: 72,999,323 E138D possibly damaging Het
Other mutations in Ghrhr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Ghrhr APN 6 55379125 missense probably benign 0.00
IGL01088:Ghrhr APN 6 55379193 critical splice donor site probably null
IGL01567:Ghrhr APN 6 55384123 missense probably damaging 1.00
IGL02351:Ghrhr APN 6 55384153 missense probably damaging 1.00
IGL02358:Ghrhr APN 6 55384153 missense probably damaging 1.00
IGL02588:Ghrhr APN 6 55383410 missense probably damaging 1.00
IGL03010:Ghrhr APN 6 55384757 missense probably damaging 1.00
R0068:Ghrhr UTSW 6 55380864 splice site probably benign
R0068:Ghrhr UTSW 6 55380864 splice site probably benign
R0234:Ghrhr UTSW 6 55379186 missense possibly damaging 0.47
R0234:Ghrhr UTSW 6 55379186 missense possibly damaging 0.47
R1173:Ghrhr UTSW 6 55388269 nonsense probably null
R1175:Ghrhr UTSW 6 55388269 nonsense probably null
R1613:Ghrhr UTSW 6 55379697 missense probably damaging 0.99
R2196:Ghrhr UTSW 6 55379741 missense probably damaging 1.00
R2232:Ghrhr UTSW 6 55385459 missense probably damaging 1.00
R3764:Ghrhr UTSW 6 55380771 missense probably damaging 0.98
R4618:Ghrhr UTSW 6 55381754 missense probably damaging 1.00
R4837:Ghrhr UTSW 6 55388187 missense probably damaging 1.00
R5422:Ghrhr UTSW 6 55388203 missense probably benign 0.00
R6199:Ghrhr UTSW 6 55379188 missense probably benign 0.03
R6915:Ghrhr UTSW 6 55383119 intron probably null
R7632:Ghrhr UTSW 6 55384742 missense probably benign 0.26
R7966:Ghrhr UTSW 6 55379098 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15