Incidental Mutation 'IGL01567:Ghrhr'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ghrhr
Ensembl Gene ENSMUSG00000004654
Gene Namegrowth hormone releasing hormone receptor
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01567
Quality Score
Chromosomal Location55376295-55388530 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55384123 bp
Amino Acid Change Aspartic acid to Glycine at position 274 (D274G)
Ref Sequence ENSEMBL: ENSMUSP00000145224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063578] [ENSMUST00000203241]
Predicted Effect probably damaging
Transcript: ENSMUST00000063578
AA Change: D274G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654
AA Change: D274G

HormR 51 121 1.3e-26 SMART
Pfam:7tm_2 126 372 7.2e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203241
AA Change: D274G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145224
Gene: ENSMUSG00000004654
AA Change: D274G

signal peptide 1 22 N/A INTRINSIC
HormR 51 121 8.4e-29 SMART
Pfam:7tm_2 126 374 8.7e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204988
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,421,880 S317G probably benign Het
Akna T C 4: 63,381,850 T652A probably benign Het
Anxa9 G A 3: 95,302,432 probably benign Het
Bpifb4 T A 2: 153,947,278 probably benign Het
Bptf A G 11: 107,058,774 S2125P probably damaging Het
Capns2 C A 8: 92,902,006 H174Q probably benign Het
Cd200 A C 16: 45,394,691 L199R probably damaging Het
Clasp2 T C 9: 113,880,096 V651A probably damaging Het
Cox18 G A 5: 90,217,588 Q251* probably null Het
Depdc1a T C 3: 159,526,546 S645P probably damaging Het
Dio3 T A 12: 110,279,427 C66S possibly damaging Het
Dock9 A T 14: 121,653,084 L258Q probably damaging Het
Gm5129 A G 5: 29,735,864 probably benign Het
Grb7 A G 11: 98,454,950 N518S probably damaging Het
Kdm5b G A 1: 134,602,540 A430T probably damaging Het
Map10 C A 8: 125,671,493 Q542K probably benign Het
Metap1 T C 3: 138,462,389 T325A probably damaging Het
Ncan A T 8: 70,108,334 M661K probably benign Het
Olfr38 T C 6: 42,762,727 I225T probably benign Het
Olfr572 A G 7: 102,928,416 I263V probably benign Het
Otog T C 7: 46,276,615 probably benign Het
Pip4k2b T C 11: 97,729,561 D116G probably damaging Het
Rps15 T A 10: 80,293,809 L86Q probably benign Het
Sfxn4 G T 19: 60,853,898 T122K probably damaging Het
Slc4a3 T C 1: 75,550,882 V165A probably damaging Het
Spata48 A G 11: 11,515,015 H122R possibly damaging Het
Synm A G 7: 67,735,232 V452A probably damaging Het
Tdpoz1 T C 3: 93,670,706 H257R possibly damaging Het
Tmem26 A G 10: 68,751,231 T170A probably damaging Het
Wdfy4 T G 14: 33,151,661 E230D probably benign 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
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
R1174: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
Posted On2013-12-09