Incidental Mutation 'IGL02351:Ghrhr'
ID 289453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ghrhr
Ensembl Gene ENSMUSG00000004654
Gene Name growth hormone releasing hormone receptor
Synonyms Ghrfr
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02351
Quality Score
Status
Chromosome 6
Chromosomal Location 55353280-55365515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 55361138 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P32082
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: 56,474,418 (GRCm39) T448A possibly damaging Het
Adamtsl1 T A 4: 86,075,110 (GRCm39) probably null Het
Adgra3 A G 5: 50,215,900 (GRCm39) V73A probably benign Het
Aggf1 T C 13: 95,489,358 (GRCm39) probably benign Het
Aktip C T 8: 91,853,520 (GRCm39) V96I possibly damaging Het
Atm A G 9: 53,433,476 (GRCm39) I258T probably benign Het
Baz1b C T 5: 135,273,160 (GRCm39) T1428I probably damaging Het
C3ar1 A T 6: 122,826,934 (GRCm39) Y428N probably damaging Het
Cadps A G 14: 12,597,380 (GRCm38) S437P probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cenpq A G 17: 41,235,223 (GRCm39) L213P probably damaging Het
Cept1 A G 3: 106,446,504 (GRCm39) probably null Het
Cln6 A G 9: 62,754,407 (GRCm39) I150V probably benign Het
Cyb5r3 T C 15: 83,045,136 (GRCm39) T94A probably benign Het
Cyp2c67 A G 19: 39,605,861 (GRCm39) M345T probably damaging Het
Dapk2 T A 9: 66,153,805 (GRCm39) I187N probably damaging Het
Dkk2 A G 3: 131,883,673 (GRCm39) D191G probably benign Het
Dnah8 T A 17: 30,986,785 (GRCm39) F3145I probably damaging Het
Dock1 A C 7: 134,710,548 (GRCm39) D1190A possibly damaging Het
Ehhadh T A 16: 21,581,620 (GRCm39) L457F probably damaging Het
Ercc6l2 T C 13: 64,001,497 (GRCm39) L552P probably damaging Het
Gm10288 A T 3: 146,544,954 (GRCm39) noncoding transcript Het
Gp6 T G 7: 4,397,507 (GRCm39) I19L probably benign Het
Gria4 G A 9: 4,456,206 (GRCm39) S698L possibly damaging Het
Ifng A T 10: 118,278,410 (GRCm39) I53F possibly damaging Het
Kazn A C 4: 141,874,327 (GRCm39) probably null Het
Khk A T 5: 31,085,848 (GRCm39) I136F probably damaging Het
Lnx1 T A 5: 74,788,027 (GRCm39) N98Y probably damaging Het
Lsp1 T C 7: 142,042,679 (GRCm39) probably null Het
Lta4h A T 10: 93,314,329 (GRCm39) N467I probably benign Het
Mcmbp C A 7: 128,311,505 (GRCm39) probably null Het
Me2 A T 18: 73,931,038 (GRCm39) I85K probably benign Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Nadsyn1 A T 7: 143,353,649 (GRCm39) Y525N probably damaging Het
Nt5e G A 9: 88,209,946 (GRCm39) V70M probably damaging Het
Or52e4 G A 7: 104,706,182 (GRCm39) G243D probably damaging Het
Or8b36 A T 9: 37,937,332 (GRCm39) I77L possibly damaging Het
Or9k7 T G 10: 130,046,603 (GRCm39) Y132S probably damaging Het
Pkd1l3 A G 8: 110,373,129 (GRCm39) probably benign Het
Ppm1d A T 11: 85,236,541 (GRCm39) E440V probably damaging Het
Pramel32 A T 4: 88,546,127 (GRCm39) I405N probably damaging Het
Ripor2 A T 13: 24,915,572 (GRCm39) E1047D probably damaging Het
Rwdd2b G A 16: 87,234,336 (GRCm39) A18V probably benign Het
Serpina5 G T 12: 104,068,384 (GRCm39) K148N probably damaging Het
Setx A G 2: 29,036,976 (GRCm39) K1154E probably benign Het
Skap1 T A 11: 96,599,382 (GRCm39) probably null Het
Spcs2 T C 7: 99,498,241 (GRCm39) K81R probably damaging Het
Stt3b T A 9: 115,079,975 (GRCm39) M646L possibly damaging Het
Suco T C 1: 161,646,195 (GRCm39) T1169A probably benign Het
Susd1 A T 4: 59,427,985 (GRCm39) Y66* probably null Het
Trim34a T A 7: 103,910,441 (GRCm39) C414* probably null Het
Trim58 G A 11: 58,542,176 (GRCm39) G379S probably damaging Het
Vmn2r50 T A 7: 9,787,002 (GRCm39) Q35L probably benign Het
Zfp418 T C 7: 7,177,690 (GRCm39) probably benign Het
Zfp57 G A 17: 37,320,919 (GRCm39) V258I probably benign Het
Zng1 A T 19: 24,909,026 (GRCm39) 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
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
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
Posted On 2015-04-16