Incidental Mutation 'IGL00980:Gnrhr'
ID27538
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 #IGL00980
Quality Score
Status
Chromosome5
Chromosomal Location86180754-86197901 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 86197303 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031172] [ENSMUST00000094654] [ENSMUST00000113372]
Predicted Effect probably null
Transcript: ENSMUST00000031172
SMART Domains Protein: ENSMUSP00000031172
Gene: ENSMUSG00000029255

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

DomainStartEndE-ValueType
Pfam:7tm_1 62 261 6.7e-27 PFAM
Predicted Effect probably null
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C T 3: 37,000,041 T3103I probably damaging Het
Adam2 A T 14: 66,056,528 Y283* probably null Het
Bend3 C A 10: 43,511,566 Q652K probably damaging Het
Ccdc136 G A 6: 29,420,258 S992N probably damaging Het
Cct6a T C 5: 129,791,793 probably benign Het
Cd74 A T 18: 60,811,326 I203F probably benign Het
Cd8b1 C A 6: 71,332,479 C182* probably null Het
Cmtr1 T A 17: 29,691,284 D454E probably benign Het
Cyp2b13 T A 7: 26,081,727 F188Y probably benign Het
Dppa2 T C 16: 48,311,686 S49P possibly damaging Het
Fhl5 G T 4: 25,207,181 L196I possibly damaging Het
Gimap4 T A 6: 48,690,938 V81D probably damaging Het
Gm4884 T G 7: 41,043,726 M373R probably damaging Het
H2-Oa T G 17: 34,094,563 L196R probably damaging Het
Icosl T C 10: 78,071,971 S122P probably damaging Het
Itpr3 A G 17: 27,110,956 T1575A probably benign Het
Krt80 T C 15: 101,349,998 K373E possibly damaging Het
Lamp1 G A 8: 13,171,195 probably benign Het
Npvf T C 6: 50,650,885 K185E probably damaging Het
Nuf2 A G 1: 169,510,434 M258T probably damaging Het
Olfr1416 T C 1: 92,479,680 probably null Het
Olfr883 G A 9: 38,025,811 V2I probably benign Het
Smurf2 A C 11: 106,836,095 I469S probably damaging Het
Soat1 T A 1: 156,441,341 H180L probably benign Het
Spink5 G T 18: 44,007,710 D659Y probably damaging Het
Sprtn T C 8: 124,900,298 M139T probably damaging Het
Tas2r137 T C 6: 40,491,418 S61P possibly damaging Het
Tec G A 5: 72,786,798 L89F probably damaging Het
Trav21-dv12 A T 14: 53,876,650 M76L probably benign Het
Ttc7 A C 17: 87,321,446 T271P possibly damaging Het
Tyk2 G A 9: 21,120,588 T397I probably benign Het
Ugt1a6b T A 1: 88,107,605 Y222N possibly damaging Het
Vmn2r2 A T 3: 64,117,180 M660K probably benign Het
Vmn2r52 T A 7: 10,171,090 Y274F probably damaging Het
Wscd1 A C 11: 71,788,942 N547T possibly damaging Het
Zfp335 C A 2: 164,902,674 E394* probably null Het
Other mutations in Gnrhr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Gnrhr APN 5 86182193 missense probably damaging 1.00
IGL02702:Gnrhr APN 5 86182269 missense possibly damaging 0.69
IGL03367:Gnrhr APN 5 86182331 missense probably benign 0.02
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 On2013-04-17