Incidental Mutation 'R4846:Ghsr'
ID 372152
Institutional Source Beutler Lab
Gene Symbol Ghsr
Ensembl Gene ENSMUSG00000051136
Gene Name growth hormone secretagogue receptor
Synonyms C530020I22Rik, Ghsr1a
MMRRC Submission 042459-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4846 (G1)
Quality Score 147
Status Validated
Chromosome 3
Chromosomal Location 27425500-27432159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27425986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 14 (V14A)
Ref Sequence ENSEMBL: ENSMUSP00000061153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057186]
AlphaFold Q99P50
Predicted Effect probably benign
Transcript: ENSMUST00000057186
AA Change: V14A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061153
Gene: ENSMUSG00000051136
AA Change: V14A

low complexity region 33 43 N/A INTRINSIC
Pfam:7TM_GPCR_Srw 47 339 5.8e-12 PFAM
Pfam:7TM_GPCR_Srsx 53 336 9.4e-8 PFAM
Pfam:7tm_1 59 321 7.9e-51 PFAM
Pfam:7TM_GPCR_Srv 61 338 4.8e-9 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,393,392 (GRCm39) H299L probably damaging Het
Abcb4 C T 5: 8,985,180 (GRCm39) A687V probably benign Het
Abtb3 A G 10: 85,465,130 (GRCm39) T657A probably damaging Het
Adam20 A G 8: 41,248,048 (GRCm39) T53A probably benign Het
Afg1l G A 10: 42,330,490 (GRCm39) T59I probably benign Het
AI837181 A G 19: 5,476,329 (GRCm39) Q164R probably benign Het
Anapc15 T A 7: 101,546,974 (GRCm39) I12N probably benign Het
Ankrd55 A C 13: 112,499,988 (GRCm39) E278D probably benign Het
Axin2 A G 11: 108,833,125 (GRCm39) T437A probably benign Het
BC051665 T C 13: 60,931,895 (GRCm39) D168G probably damaging Het
Cd200 C T 16: 45,212,664 (GRCm39) R261H probably benign Het
Clk1 G A 1: 58,460,261 (GRCm39) S123L probably benign Het
Csrnp2 A T 15: 100,382,571 (GRCm39) D156E probably damaging Het
Ctss C T 3: 95,452,695 (GRCm39) Q159* probably null Het
Dennd2b C A 7: 109,156,043 (GRCm39) E236* probably null Het
Dip2a A G 10: 76,157,327 (GRCm39) S93P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Ephb6 G A 6: 41,593,743 (GRCm39) R542Q probably benign Het
Fmo3 T C 1: 162,781,880 (GRCm39) D491G possibly damaging Het
Galnt14 A T 17: 73,843,888 (GRCm39) M140K probably benign Het
Gm17546 C A 15: 95,727,843 (GRCm39) probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hc A G 2: 34,909,682 (GRCm39) V866A probably benign Het
Hoxb6 G A 11: 96,190,348 (GRCm39) G116R probably damaging Het
Hykk A G 9: 54,827,890 (GRCm39) Y43C probably damaging Het
Jade2 T C 11: 51,711,975 (GRCm39) T495A probably benign Het
Kansl1 A T 11: 104,233,798 (GRCm39) V755E possibly damaging Het
Lrp2 T A 2: 69,309,457 (GRCm39) D2814V probably damaging Het
Mbd5 T A 2: 49,147,009 (GRCm39) N406K probably damaging Het
Met A T 6: 17,491,928 (GRCm39) D230V probably damaging Het
Mrgprx2 A T 7: 48,132,584 (GRCm39) V78D probably damaging Het
Mrpl20 A G 4: 155,892,993 (GRCm39) T112A possibly damaging Het
Nek11 T A 9: 105,040,362 (GRCm39) E566D probably damaging Het
Nostrin T C 2: 69,005,923 (GRCm39) S235P probably damaging Het
Npas4 C A 19: 5,036,805 (GRCm39) S453I probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Psg18 A T 7: 18,084,711 (GRCm39) Y128* probably null Het
Ptges3l A T 11: 101,310,010 (GRCm39) probably benign Het
Pus1 T C 5: 110,927,796 (GRCm39) probably benign Het
Raf1 T A 6: 115,621,544 (GRCm39) S12C possibly damaging Het
Rps6-ps2 T G 8: 89,533,206 (GRCm39) noncoding transcript Het
Slc5a4b A G 10: 75,898,073 (GRCm39) L547P probably damaging Het
Socs3 A G 11: 117,858,654 (GRCm39) S135P probably benign Het
Spata31d1e T C 13: 59,890,047 (GRCm39) D591G probably benign Het
Stra6l G A 4: 45,873,682 (GRCm39) V281M possibly damaging Het
Suco G A 1: 161,661,977 (GRCm39) T818I possibly damaging Het
Syde1 A T 10: 78,424,731 (GRCm39) V367D probably damaging Het
Tet3 A T 6: 83,353,865 (GRCm39) L932* probably null Het
Trpm7 G A 2: 126,655,105 (GRCm39) L1278F possibly damaging Het
Vmn1r168 A T 7: 23,240,490 (GRCm39) T116S probably damaging Het
Wfdc6b A G 2: 164,459,214 (GRCm39) Q92R possibly damaging Het
Other mutations in Ghsr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Ghsr APN 3 27,429,022 (GRCm39) missense possibly damaging 0.92
IGL00435:Ghsr APN 3 27,426,532 (GRCm39) missense possibly damaging 0.91
IGL01376:Ghsr APN 3 27,425,977 (GRCm39) missense probably benign
IGL02444:Ghsr APN 3 27,426,189 (GRCm39) missense probably benign 0.17
IGL02650:Ghsr APN 3 27,429,004 (GRCm39) missense probably benign 0.29
IGL02754:Ghsr APN 3 27,426,645 (GRCm39) missense probably damaging 1.00
R0571:Ghsr UTSW 3 27,426,165 (GRCm39) missense probably damaging 1.00
R0825:Ghsr UTSW 3 27,428,776 (GRCm39) missense probably damaging 0.99
R1036:Ghsr UTSW 3 27,428,869 (GRCm39) missense probably damaging 0.98
R1462:Ghsr UTSW 3 27,426,025 (GRCm39) missense probably benign 0.01
R1462:Ghsr UTSW 3 27,426,025 (GRCm39) missense probably benign 0.01
R1529:Ghsr UTSW 3 27,426,631 (GRCm39) missense probably damaging 1.00
R1598:Ghsr UTSW 3 27,426,426 (GRCm39) missense probably benign 0.27
R4951:Ghsr UTSW 3 27,426,510 (GRCm39) missense possibly damaging 0.83
R4993:Ghsr UTSW 3 27,426,403 (GRCm39) missense possibly damaging 0.87
R5055:Ghsr UTSW 3 27,426,421 (GRCm39) missense probably benign 0.28
R6843:Ghsr UTSW 3 27,426,676 (GRCm39) missense probably benign
R6936:Ghsr UTSW 3 27,426,474 (GRCm39) missense probably benign 0.02
R7068:Ghsr UTSW 3 27,425,986 (GRCm39) missense probably benign 0.01
R7318:Ghsr UTSW 3 27,426,616 (GRCm39) missense possibly damaging 0.91
R7510:Ghsr UTSW 3 27,426,523 (GRCm39) missense probably benign 0.05
R7889:Ghsr UTSW 3 27,426,315 (GRCm39) missense probably benign 0.00
R9514:Ghsr UTSW 3 27,426,630 (GRCm39) missense possibly damaging 0.77
R9571:Ghsr UTSW 3 27,426,664 (GRCm39) missense probably benign 0.00
R9741:Ghsr UTSW 3 27,428,898 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-03-01