Incidental Mutation 'IGL02351:Ghrhr'
ID289453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ghrhr
Ensembl Gene ENSMUSG00000004654
Gene Namegrowth hormone releasing hormone receptor
SynonymsGhrfr
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02351
Quality Score
Status
Chromosome6
Chromosomal Location55376295-55388530 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 55384153 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 284 (I284S)
Ref Sequence ENSEMBL: ENSMUSP00000145224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063578] [ENSMUST00000203241]
Predicted Effect probably damaging
Transcript: ENSMUST00000063578
AA Change: I284S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654
AA Change: I284S

DomainStartEndE-ValueType
HormR 51 121 1.3e-26 SMART
Pfam:7tm_2 126 372 7.2e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203241
AA Change: I284S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145224
Gene: ENSMUSG00000004654
AA Change: I284S

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,654,055 T448A possibly damaging Het
Adamtsl1 T A 4: 86,156,873 probably null Het
Adgra3 A G 5: 50,058,558 V73A probably benign Het
Aggf1 T C 13: 95,352,850 probably benign Het
Aktip C T 8: 91,126,892 V96I possibly damaging Het
Atm A G 9: 53,522,176 I258T probably benign Het
Baz1b C T 5: 135,244,306 T1428I probably damaging Het
C3ar1 A T 6: 122,849,975 Y428N probably damaging Het
C87499 A T 4: 88,627,890 I405N probably damaging Het
Cadps A G 14: 12,597,380 S437P probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cbwd1 A T 19: 24,931,662 probably null Het
Cenpq A G 17: 40,924,332 L213P probably damaging Het
Cept1 A G 3: 106,539,188 probably null Het
Cln6 A G 9: 62,847,125 I150V probably benign Het
Cyb5r3 T C 15: 83,160,935 T94A probably benign Het
Cyp2c67 A G 19: 39,617,417 M345T probably damaging Het
Dapk2 T A 9: 66,246,523 I187N probably damaging Het
Dkk2 A G 3: 132,177,912 D191G probably benign Het
Dnah8 T A 17: 30,767,811 F3145I probably damaging Het
Dock1 A C 7: 135,108,819 D1190A possibly damaging Het
Ehhadh T A 16: 21,762,870 L457F probably damaging Het
Ercc6l2 T C 13: 63,853,683 L552P probably damaging Het
Gm10288 A T 3: 146,839,199 noncoding transcript Het
Gp6 T G 7: 4,394,508 I19L probably benign Het
Gria4 G A 9: 4,456,206 S698L possibly damaging Het
Ifng A T 10: 118,442,505 I53F possibly damaging Het
Kazn A C 4: 142,147,016 probably null Het
Khk A T 5: 30,928,504 I136F probably damaging Het
Lnx1 T A 5: 74,627,366 N98Y probably damaging Het
Lsp1 T C 7: 142,488,942 probably null Het
Lta4h A T 10: 93,478,467 N467I probably benign Het
Mcmbp C A 7: 128,709,781 probably null Het
Me2 A T 18: 73,797,967 I85K probably benign Het
Muc4 C T 16: 32,750,986 T288I possibly damaging Het
Nadsyn1 A T 7: 143,799,912 Y525N probably damaging Het
Nt5e G A 9: 88,327,893 V70M probably damaging Het
Olfr677 G A 7: 105,056,975 G243D probably damaging Het
Olfr827 T G 10: 130,210,734 Y132S probably damaging Het
Olfr883 A T 9: 38,026,036 I77L possibly damaging Het
Pkd1l3 A G 8: 109,646,497 probably benign Het
Ppm1d A T 11: 85,345,715 E440V probably damaging Het
Ripor2 A T 13: 24,731,589 E1047D probably damaging Het
Rwdd2b G A 16: 87,437,448 A18V probably benign Het
Serpina5 G T 12: 104,102,125 K148N probably damaging Het
Setx A G 2: 29,146,964 K1154E probably benign Het
Skap1 T A 11: 96,708,556 probably null Het
Spcs2 T C 7: 99,849,034 K81R probably damaging Het
Stt3b T A 9: 115,250,907 M646L possibly damaging Het
Suco T C 1: 161,818,626 T1169A probably benign Het
Susd1 A T 4: 59,427,985 Y66* probably null Het
Trim34a T A 7: 104,261,234 C414* probably null Het
Trim58 G A 11: 58,651,350 G379S probably damaging Het
Vmn2r50 T A 7: 10,053,075 Q35L probably benign Het
Zfp418 T C 7: 7,174,691 probably benign Het
Zfp57 G A 17: 37,010,027 V258I 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
IGL01567:Ghrhr APN 6 55384123 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 splice site probably null
R7632:Ghrhr UTSW 6 55384742 missense probably benign 0.26
R7966:Ghrhr UTSW 6 55379098 missense probably damaging 1.00
Posted On2015-04-16