Incidental Mutation 'R2199:Gnrhr'
ID 238552
Institutional Source Beutler Lab
Gene Symbol Gnrhr
Ensembl Gene ENSMUSG00000029255
Gene Name gonadotropin releasing hormone receptor
Synonyms
MMRRC Submission 040201-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R2199 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 86328613-86345760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86345677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 3 (N3S)
Ref Sequence ENSEMBL: ENSMUSP00000092238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031172] [ENSMUST00000094654] [ENSMUST00000113372]
AlphaFold Q01776
Predicted Effect probably benign
Transcript: ENSMUST00000031172
AA Change: N3S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000031172
Gene: ENSMUSG00000029255
AA Change: N3S

DomainStartEndE-ValueType
Pfam:7tm_1 63 322 2.8e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094654
AA Change: N3S

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092238
Gene: ENSMUSG00000029255
AA Change: N3S

DomainStartEndE-ValueType
Pfam:7tm_1 62 261 6.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113372
AA Change: N3S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108999
Gene: ENSMUSG00000029255
AA Change: N3S

DomainStartEndE-ValueType
Pfam:7tm_1 60 177 4.5e-20 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,554,598 (GRCm39) I119V probably benign Het
Arfgap2 T A 2: 91,096,037 (GRCm39) probably null Het
Ccm2 T C 11: 6,540,790 (GRCm39) V216A probably damaging Het
Ctdspl2 T C 2: 121,817,510 (GRCm39) probably null Het
Dmxl2 T C 9: 54,283,527 (GRCm39) T2769A probably benign Het
Dnah3 C T 7: 119,550,792 (GRCm39) V3165M possibly damaging Het
Dnajc1 A C 2: 18,313,710 (GRCm39) F137C probably damaging Het
Gli2 A T 1: 118,765,378 (GRCm39) D924E possibly damaging Het
Grhl1 G T 12: 24,662,169 (GRCm39) R536L probably damaging Het
Hormad1 T C 3: 95,475,033 (GRCm39) probably null Het
Il20 T A 1: 130,838,476 (GRCm39) I74L probably benign Het
Ints11 A G 4: 155,959,738 (GRCm39) K115R probably benign Het
Irx4 A T 13: 73,413,720 (GRCm39) E63D probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Kctd8 C A 5: 69,498,588 (GRCm39) M19I probably benign Het
Klhl31 T C 9: 77,557,383 (GRCm39) L33P probably damaging Het
Lrp1 A T 10: 127,382,709 (GRCm39) C3691S probably damaging Het
Lrrc39 A G 3: 116,364,610 (GRCm39) D167G probably damaging Het
Lrrd1 A T 5: 3,916,478 (GRCm39) I832L possibly damaging Het
Lrriq1 A G 10: 102,904,774 (GRCm39) V1620A probably damaging Het
Ltbr T C 6: 125,289,024 (GRCm39) K213E probably benign Het
Megf8 T A 7: 25,039,039 (GRCm39) D883E possibly damaging Het
Nherf2 T C 17: 24,859,570 (GRCm39) E174G probably null Het
Nmt1 T A 11: 102,954,682 (GRCm39) S405T probably damaging Het
Nsd3 G T 8: 26,156,073 (GRCm39) V547F probably damaging Het
Or4c110 A G 2: 88,831,894 (GRCm39) V246A probably damaging Het
Or7g16 C A 9: 18,727,219 (GRCm39) V124F probably damaging Het
Otud7a A G 7: 63,407,404 (GRCm39) K569R possibly damaging Het
Otud7b A G 3: 96,063,089 (GRCm39) Y776C probably damaging Het
Pcdh15 T C 10: 74,006,341 (GRCm39) I73T probably damaging Het
Rnf213 A T 11: 119,350,835 (GRCm39) H3890L probably benign Het
Sall3 T C 18: 81,015,085 (GRCm39) T948A probably benign Het
Slc44a3 T C 3: 121,307,393 (GRCm39) I198V probably benign Het
Smg7 C A 1: 152,730,079 (GRCm39) D405Y probably damaging Het
Synpo2l A G 14: 20,711,987 (GRCm39) L211S probably benign Het
Thsd7b A G 1: 130,145,895 (GRCm39) Y1601C probably benign Het
Traf4 T C 11: 78,050,806 (GRCm39) Y450C probably damaging Het
Trpv1 A G 11: 73,131,077 (GRCm39) K239E probably damaging Het
Ttn C T 2: 76,585,150 (GRCm39) G20302S probably damaging Het
Ube2o A G 11: 116,435,571 (GRCm39) S406P probably benign Het
Xrn2 C T 2: 146,866,670 (GRCm39) A80V probably damaging Het
Zfp616 C T 11: 73,975,456 (GRCm39) T575I possibly damaging Het
Other mutations in Gnrhr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Gnrhr APN 5 86,345,162 (GRCm39) critical splice donor site probably null
IGL01432:Gnrhr APN 5 86,330,052 (GRCm39) missense probably damaging 1.00
IGL02702:Gnrhr APN 5 86,330,128 (GRCm39) missense possibly damaging 0.69
IGL03367:Gnrhr APN 5 86,330,190 (GRCm39) missense probably benign 0.02
G1patch:Gnrhr UTSW 5 86,333,172 (GRCm39) missense probably damaging 0.97
R0483:Gnrhr UTSW 5 86,345,434 (GRCm39) missense probably damaging 1.00
R1873:Gnrhr UTSW 5 86,330,060 (GRCm39) missense probably damaging 1.00
R2303:Gnrhr UTSW 5 86,345,608 (GRCm39) missense probably benign 0.01
R4400:Gnrhr UTSW 5 86,330,108 (GRCm39) splice site probably null
R5273:Gnrhr UTSW 5 86,330,105 (GRCm39) missense possibly damaging 0.86
R5320:Gnrhr UTSW 5 86,345,473 (GRCm39) missense possibly damaging 0.95
R6159:Gnrhr UTSW 5 86,330,216 (GRCm39) missense probably damaging 1.00
R6221:Gnrhr UTSW 5 86,333,262 (GRCm39) nonsense probably null
R6629:Gnrhr UTSW 5 86,330,168 (GRCm39) missense probably benign 0.01
R6725:Gnrhr UTSW 5 86,333,172 (GRCm39) missense probably damaging 0.97
R9251:Gnrhr UTSW 5 86,345,221 (GRCm39) missense possibly damaging 0.96
X0018:Gnrhr UTSW 5 86,345,614 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GCACCTTCATCCTTGAGAGC -3'
(R):5'- CCTTGATCTTTCACGTTAAGTCCAG -3'

Sequencing Primer
(F):5'- GTCCACTTCTGCAGCTTCAACAAG -3'
(R):5'- CACGTTAAGTCCAGAGTATCTTGG -3'
Posted On 2014-10-02