Incidental Mutation 'IGL02444:Ghsr'
ID293489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ghsr
Ensembl Gene ENSMUSG00000051136
Gene Namegrowth hormone secretagogue receptor
SynonymsC530020I22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02444
Quality Score
Status
Chromosome3
Chromosomal Location27371351-27378010 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27372040 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 82 (S82P)
Ref Sequence ENSEMBL: ENSMUSP00000061153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057186]
Predicted Effect probably benign
Transcript: ENSMUST00000057186
AA Change: S82P

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000061153
Gene: ENSMUSG00000051136
AA Change: S82P

DomainStartEndE-ValueType
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
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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 43,569,673 I260T possibly damaging Het
Arhgap9 T A 10: 127,327,947 V484D probably damaging Het
Asph A G 4: 9,542,319 probably benign Het
Bbs9 T C 9: 22,643,787 S457P probably damaging Het
Bckdk A G 7: 127,907,446 T38A probably damaging Het
Cast G A 13: 74,739,853 T240I probably damaging Het
Cdc27 T C 11: 104,522,716 probably benign Het
Cdon T C 9: 35,473,448 S677P probably benign Het
Cfap161 T C 7: 83,776,145 E246G probably damaging Het
Dnah11 G A 12: 117,975,873 probably benign Het
Dnm3 C T 1: 162,010,875 V835I possibly damaging Het
Eif3a T C 19: 60,773,607 H510R possibly damaging Het
Fbxw2 G T 2: 34,805,781 T367K probably benign Het
Gm4353 C T 7: 116,083,444 V301I probably benign Het
Golgb1 T C 16: 36,907,816 probably benign Het
Gria2 T A 3: 80,702,553 M650L possibly damaging Het
Herc4 T C 10: 63,306,433 V671A probably benign Het
Iqcb1 T A 16: 36,831,911 Y61* probably null Het
Irs2 C T 8: 11,006,306 G709S probably benign Het
Itpripl1 T G 2: 127,141,701 H167P possibly damaging Het
Kcnn3 T C 3: 89,652,052 V543A possibly damaging Het
Klf10 T A 15: 38,297,824 K43M probably damaging Het
Lcor C T 19: 41,559,011 R345C probably damaging Het
Lmntd2 A G 7: 141,211,919 S304P probably damaging Het
Lpar3 T C 3: 146,241,194 I209T probably damaging Het
Map3k13 T A 16: 21,914,232 M528K probably benign Het
Me1 A T 9: 86,582,914 probably benign Het
Nedd4l T G 18: 65,203,957 probably benign Het
Oas1d T A 5: 120,920,008 F338L probably benign Het
Olfr15 T C 16: 3,839,687 F238S probably damaging Het
Olfr362 G T 2: 37,104,774 P292Q probably damaging Het
Pcdhb5 T C 18: 37,321,050 V161A probably benign Het
Prdx3 A T 19: 60,871,461 F91L possibly damaging Het
Rab25 T C 3: 88,542,713 T114A probably benign Het
Rasal2 T C 1: 157,299,195 E73G probably benign Het
Slco4c1 A G 1: 96,844,509 S252P probably damaging Het
Srgap2 A C 1: 131,325,153 probably null Het
Synpo A G 18: 60,602,430 S576P probably damaging Het
Tktl2 G T 8: 66,513,361 A524S possibly damaging Het
Tln2 A T 9: 67,258,592 probably benign Het
Tmem52 G A 4: 155,470,393 D158N probably damaging Het
Tyw3 T A 3: 154,596,989 Q36L probably damaging Het
Usp10 A T 8: 119,948,693 I483F possibly damaging Het
Usp31 A G 7: 121,679,495 Y216H probably damaging Het
Vmn1r181 T C 7: 23,984,523 S138P probably damaging Het
Vmn2r42 G T 7: 8,184,313 A770E probably damaging Het
Zfp292 A C 4: 34,808,810 S1411R possibly damaging Het
Other mutations in Ghsr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Ghsr APN 3 27374873 missense possibly damaging 0.92
IGL00435:Ghsr APN 3 27372383 missense possibly damaging 0.91
IGL01376:Ghsr APN 3 27371828 missense probably benign
IGL02650:Ghsr APN 3 27374855 missense probably benign 0.29
IGL02754:Ghsr APN 3 27372496 missense probably damaging 1.00
R0571:Ghsr UTSW 3 27372016 missense probably damaging 1.00
R0825:Ghsr UTSW 3 27374627 missense probably damaging 0.99
R1036:Ghsr UTSW 3 27374720 missense probably damaging 0.98
R1462:Ghsr UTSW 3 27371876 missense probably benign 0.01
R1462:Ghsr UTSW 3 27371876 missense probably benign 0.01
R1529:Ghsr UTSW 3 27372482 missense probably damaging 1.00
R1598:Ghsr UTSW 3 27372277 missense probably benign 0.27
R4846:Ghsr UTSW 3 27371837 missense probably benign
R4951:Ghsr UTSW 3 27372361 missense possibly damaging 0.83
R4993:Ghsr UTSW 3 27372254 missense possibly damaging 0.87
R5055:Ghsr UTSW 3 27372272 missense probably benign 0.28
R6843:Ghsr UTSW 3 27372527 missense probably benign
R6936:Ghsr UTSW 3 27372325 missense probably benign 0.02
R7068:Ghsr UTSW 3 27371837 missense probably benign 0.01
R7318:Ghsr UTSW 3 27372467 missense possibly damaging 0.91
R7510:Ghsr UTSW 3 27372374 missense probably benign 0.05
R7889:Ghsr UTSW 3 27372166 missense probably benign 0.00
R7972:Ghsr UTSW 3 27372166 missense probably benign 0.00
Posted On2015-04-16