Incidental Mutation 'IGL03367:Gnrhr'
ID420123
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnrhr
Ensembl Gene ENSMUSG00000029255
Gene Namegonadotropin releasing hormone receptor
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL03367
Quality Score
Status
Chromosome5
Chromosomal Location86180754-86197901 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 86182331 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 277 (V277I)
Ref Sequence ENSEMBL: ENSMUSP00000031172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031172] [ENSMUST00000094654] [ENSMUST00000113372]
Predicted Effect probably benign
Transcript: ENSMUST00000031172
AA Change: V277I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000031172
Gene: ENSMUSG00000029255
AA Change: V277I

DomainStartEndE-ValueType
Pfam:7tm_1 63 322 2.8e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094654
SMART Domains Protein: ENSMUSP00000092238
Gene: ENSMUSG00000029255

DomainStartEndE-ValueType
Pfam:7tm_1 62 261 6.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113372
SMART Domains Protein: ENSMUSP00000108999
Gene: ENSMUSG00000029255

DomainStartEndE-ValueType
Pfam:7tm_1 60 177 4.5e-20 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 the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice display prepubescent internal reproductive tracts with hypogonadism and hypogonadotrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030419C18Rik A G 9: 58,499,098 H97R probably damaging Het
Abcc5 A T 16: 20,392,811 probably benign Het
Adra1a G A 14: 66,637,989 V138I possibly damaging Het
Alpk3 A G 7: 81,094,990 I1278V probably benign Het
Asb6 A T 2: 30,824,679 I185N possibly damaging Het
Atg9a A G 1: 75,187,957 V121A probably benign Het
Cdc42bpb A G 12: 111,336,159 Y155H probably damaging Het
Ceacam15 A C 7: 16,675,587 S8A possibly damaging Het
Cep170b T A 12: 112,737,238 D615E probably benign Het
Cntn6 G T 6: 104,804,338 G462C probably damaging Het
Col8a2 A G 4: 126,312,198 D667G probably damaging Het
Cyp2c29 A G 19: 39,329,215 K382E probably damaging Het
Dgkd T C 1: 87,940,308 probably null Het
Dkk2 C T 3: 132,178,077 T246I probably damaging Het
Dnah5 T C 15: 28,234,327 L294P possibly damaging Het
Erbb2 G T 11: 98,422,875 probably null Het
Fn1 A G 1: 71,597,553 F2147L probably benign Het
Gm11149 G A 9: 49,546,346 probably benign Het
Gm13088 C T 4: 143,655,623 V168I possibly damaging Het
H2-T10 T A 17: 36,120,393 E129V possibly damaging Het
Hmgcr T C 13: 96,665,853 T108A probably damaging Het
Hnrnph3 A T 10: 63,017,229 I196N probably damaging Het
Kcnq5 T C 1: 21,403,065 K653E probably damaging Het
Lgi2 C A 5: 52,562,160 D100Y probably damaging Het
Mettl15 T A 2: 109,131,571 H231L probably benign Het
Mthfd1l A G 10: 4,106,536 probably benign Het
Pik3cg A G 12: 32,192,121 S997P probably benign Het
Pla2g1b T C 5: 115,472,114 C105R probably damaging Het
Ppil1 A T 17: 29,252,244 probably benign Het
Rbbp8 A G 18: 11,721,719 T334A probably benign Het
Slc15a4 T C 5: 127,601,941 Y445C probably damaging Het
Sox14 A C 9: 99,875,662 I8S probably damaging Het
Spice1 A G 16: 44,356,178 T44A probably damaging Het
Sult3a1 G T 10: 33,877,346 V213L probably benign Het
Vkorc1l1 C A 5: 129,982,307 Y111* probably null Het
Wdr47 G T 3: 108,629,773 probably benign Het
Wdr90 A G 17: 25,847,791 probably benign Het
Other mutations in Gnrhr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Gnrhr APN 5 86197303 critical splice donor site probably null
IGL01432:Gnrhr APN 5 86182193 missense probably damaging 1.00
IGL02702:Gnrhr APN 5 86182269 missense possibly damaging 0.69
R0483:Gnrhr UTSW 5 86197575 missense probably damaging 1.00
R1873:Gnrhr UTSW 5 86182201 missense probably damaging 1.00
R2199:Gnrhr UTSW 5 86197818 missense probably benign 0.26
R2303:Gnrhr UTSW 5 86197749 missense probably benign 0.01
R4400:Gnrhr UTSW 5 86182249 unclassified probably null
R5273:Gnrhr UTSW 5 86182246 missense possibly damaging 0.86
R5320:Gnrhr UTSW 5 86197614 missense possibly damaging 0.95
R6159:Gnrhr UTSW 5 86182357 missense probably damaging 1.00
R6221:Gnrhr UTSW 5 86185403 nonsense probably null
R6629:Gnrhr UTSW 5 86182309 missense probably benign 0.01
R6725:Gnrhr UTSW 5 86185313 missense probably damaging 0.97
X0018:Gnrhr UTSW 5 86197755 missense probably benign 0.08
Posted On2016-08-02