Incidental Mutation 'R6725:Gnrhr'
ID 529814
Institutional Source Beutler Lab
Gene Symbol Gnrhr
Ensembl Gene ENSMUSG00000029255
Gene Name gonadotropin releasing hormone receptor
Synonyms
MMRRC Submission 044843-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R6725 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 86328613-86345760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86333172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 233 (I233V)
Ref Sequence ENSEMBL: ENSMUSP00000031172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031172] [ENSMUST00000094654] [ENSMUST00000113372]
AlphaFold Q01776
Predicted Effect probably damaging
Transcript: ENSMUST00000031172
AA Change: I233V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031172
Gene: ENSMUSG00000029255
AA Change: I233V

DomainStartEndE-ValueType
Pfam:7tm_1 63 322 2.8e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000094654
AA Change: I233V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092238
Gene: ENSMUSG00000029255
AA Change: I233V

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (55/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,469,833 (GRCm39) Y623C probably damaging Het
Adgrv1 T C 13: 81,585,676 (GRCm39) E4596G probably damaging Het
Adgrv1 A T 13: 81,641,329 (GRCm39) C3267S probably damaging Het
Ankrd40 T G 11: 94,225,641 (GRCm39) V224G probably benign Het
Ap3s2 C T 7: 79,570,390 (GRCm39) probably benign Het
Apip T A 2: 102,922,870 (GRCm39) D229E possibly damaging Het
Atp2b4 C T 1: 133,634,725 (GRCm39) R1168H probably benign Het
Bcan T C 3: 87,902,791 (GRCm39) K329R possibly damaging Het
Camk1g T C 1: 193,032,628 (GRCm39) D261G possibly damaging Het
Ccdc30 T A 4: 119,188,796 (GRCm39) Q490L probably damaging Het
Ccdc83 A G 7: 89,896,261 (GRCm39) W103R probably damaging Het
Ctsl T A 13: 64,514,437 (GRCm39) R69* probably null Het
Dchs1 C T 7: 105,408,000 (GRCm39) R1944H probably damaging Het
Fgb T C 3: 82,951,098 (GRCm39) Y305C probably damaging Het
Fras1 T A 5: 96,929,199 (GRCm39) Y3868N possibly damaging Het
Gal3st2 T A 1: 93,801,424 (GRCm39) S27T probably benign Het
Galnt13 A G 2: 54,745,244 (GRCm39) D228G probably damaging Het
Gk5 A T 9: 96,037,523 (GRCm39) T346S probably benign Het
Greb1 T C 12: 16,738,568 (GRCm39) Y1465C probably damaging Het
H6pd A G 4: 150,080,815 (GRCm39) L10P probably damaging Het
Hspg2 G A 4: 137,242,618 (GRCm39) G611E probably damaging Het
Ighv7-4 A T 12: 114,186,489 (GRCm39) D94E probably damaging Het
Lamb3 T C 1: 192,986,890 (GRCm39) Y59H probably benign Het
Msantd1 C T 5: 35,078,765 (GRCm39) T100I probably damaging Het
Msx3 T A 7: 139,628,659 (GRCm39) probably benign Het
Mttp C A 3: 137,812,999 (GRCm39) A559S probably damaging Het
Myh1 C G 11: 67,092,719 (GRCm39) D4E probably damaging Het
Or2ah1 A G 2: 85,654,134 (GRCm39) K273R probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or4k45 C T 2: 111,395,252 (GRCm39) C179Y probably damaging Het
Or52e19 A T 7: 102,959,561 (GRCm39) D211V probably damaging Het
Pcdhac1 T C 18: 37,223,381 (GRCm39) Y65H probably damaging Het
Pcdhga8 A T 18: 37,860,315 (GRCm39) Y457F probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pja2 A T 17: 64,596,962 (GRCm39) M514K probably damaging Het
Plcxd2 T C 16: 45,792,488 (GRCm39) N284D probably damaging Het
Polr3d A T 14: 70,678,577 (GRCm39) M129K probably benign Het
Ppp1r42 T G 1: 10,069,732 (GRCm39) E110A probably damaging Het
Prdm2 G A 4: 142,859,471 (GRCm39) T1273M possibly damaging Het
Prelid2 A G 18: 42,045,514 (GRCm39) I132T possibly damaging Het
Sergef G A 7: 46,282,091 (GRCm39) probably null Het
Slc24a2 C A 4: 87,145,119 (GRCm39) probably null Het
Stxbp3 A T 3: 108,734,916 (GRCm39) D24E possibly damaging Het
Tas2r123 A T 6: 132,824,801 (GRCm39) M233L probably damaging Het
Thsd7a G A 6: 12,555,630 (GRCm39) H85Y possibly damaging Het
Tlr2 T A 3: 83,745,603 (GRCm39) E160V probably benign Het
Tmem171 A T 13: 98,828,678 (GRCm39) C157* probably null Het
Trpm3 T C 19: 22,903,392 (GRCm39) Y1051H probably damaging Het
Vmn2r28 A G 7: 5,491,408 (GRCm39) F280L probably benign Het
Xpo7 A T 14: 70,914,253 (GRCm39) Y748N probably damaging Het
Zan T C 5: 137,436,782 (GRCm39) S2024G unknown Het
Zfhx2 A T 14: 55,301,539 (GRCm39) Y2148* probably null Het
Zscan4-ps1 T C 7: 10,799,906 (GRCm39) T328A probably benign 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
R2199:Gnrhr UTSW 5 86,345,677 (GRCm39) missense probably benign 0.26
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
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'- GGGTGATTGTGAGTTATCAAATGAC -3'
(R):5'- GCAACTTTCAACACTTTCAGGC -3'

Sequencing Primer
(F):5'- ATGACCTAACCTTTGTGAGCTG -3'
(R):5'- CCCGCAGTTATATATCTTCAGGATG -3'
Posted On 2018-08-01