Incidental Mutation 'R8828:Gnrh1'
ID 673634
Institutional Source Beutler Lab
Gene Symbol Gnrh1
Ensembl Gene ENSMUSG00000015812
Gene Name gonadotropin releasing hormone 1
Synonyms LHRH, LNRH
MMRRC Submission 068730-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8828 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 67982717-67986889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67985334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 73 (L73Q)
Ref Sequence ENSEMBL: ENSMUSP00000106724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039135] [ENSMUST00000111095] [ENSMUST00000223929] [ENSMUST00000223951]
AlphaFold P13562
Predicted Effect probably benign
Transcript: ENSMUST00000039135
SMART Domains Protein: ENSMUSP00000036674
Gene: ENSMUSG00000044447

DomainStartEndE-ValueType
SH3 11 68 1.45e-13 SMART
Pfam:DOCK_N 71 434 9e-110 PFAM
Pfam:DOCK-C2 439 636 1.1e-57 PFAM
low complexity region 752 764 N/A INTRINSIC
Pfam:DHR-2 1133 1635 6.4e-99 PFAM
low complexity region 1663 1692 N/A INTRINSIC
low complexity region 1815 1824 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111095
AA Change: L73Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106724
Gene: ENSMUSG00000015812
AA Change: L73Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:GnRH 22 31 9.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000223929
AA Change: L28Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223951
AA Change: L73Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes hypophysiotropic peptides belonging to the family of gonadotropin-releasing hormones that stimulate the release of gonadotropins and suppress secretion of prolactin from the pituitary gland. The encoded protein is proteolytically processed to generate two biologically active mature peptides. A deletional mutation encompassing the distal half of this gene in mice resulting in the loss of the encoded protein leads to hypogonadism and infertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutants are characterized by the failure of the sex organs to develop postnatally, resulting in sterility in both males and females. Deficiency in hypothalamic GnRH results in deficiencies of LH, FSH and gonadal steroids. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A T 16: 56,507,455 (GRCm39) Y1091F probably damaging Het
Arl8b A G 6: 108,792,250 (GRCm39) I104V probably benign Het
Asb2 C A 12: 103,304,457 (GRCm39) G16C probably benign Het
Bptf T C 11: 106,945,836 (GRCm39) S2468G probably damaging Het
Capns1 T A 7: 29,889,963 (GRCm39) D182V probably damaging Het
Cct5 T C 15: 31,594,658 (GRCm39) H182R possibly damaging Het
Cd200 G A 16: 45,215,157 (GRCm39) R165C probably benign Het
Chd3 C T 11: 69,247,097 (GRCm39) V1024I probably damaging Het
Chd8 CAGGGTCTGCCCTCATGGTATTGTATTTCTCATAGCCTAAAAGAACAAGGG C 14: 52,448,037 (GRCm39) probably null Het
Csmd1 T C 8: 16,048,794 (GRCm39) S2303G probably benign Het
Ctsl A G 13: 64,514,314 (GRCm39) S255P probably damaging Het
Dclre1c T G 2: 3,444,714 (GRCm39) N268K possibly damaging Het
Dock10 T C 1: 80,521,134 (GRCm39) D1158G probably damaging Het
Dock6 A T 9: 21,757,797 (GRCm39) D102E probably benign Het
Dvl3 T A 16: 20,344,495 (GRCm39) D290E probably damaging Het
Fam72a T A 1: 131,458,461 (GRCm39) C74* probably null Het
Grina T A 15: 76,132,497 (GRCm39) S115T probably damaging Het
Grm3 A T 5: 9,554,725 (GRCm39) S856T probably benign Het
Hars1 C A 18: 36,899,996 (GRCm39) R490L possibly damaging Het
Ide T A 19: 37,292,241 (GRCm39) K318I Het
Immt C A 6: 71,829,762 (GRCm39) S156* probably null Het
Iqcd A G 5: 120,738,232 (GRCm39) I17V possibly damaging Het
Klhdc1 T C 12: 69,298,808 (GRCm39) V131A probably damaging Het
Klk6 C A 7: 43,478,061 (GRCm39) N144K Het
Klk6 T C 7: 43,478,062 (GRCm39) C145R probably damaging Het
Lrfn2 A T 17: 49,404,132 (GRCm39) T752S probably damaging Het
Lrguk A C 6: 34,080,572 (GRCm39) Q1269P unknown Het
Lrwd1 G T 5: 136,164,787 (GRCm39) Q7K probably benign Het
Macf1 A T 4: 123,302,204 (GRCm39) M766K probably benign Het
Myo3a A T 2: 22,245,864 (GRCm39) T4S probably benign Het
Neb T C 2: 52,084,438 (GRCm39) Y5587C probably damaging Het
Nf1 A T 11: 79,286,679 (GRCm39) probably null Het
Npepps G T 11: 97,131,823 (GRCm39) R344S probably damaging Het
Nudt16l2 C T 9: 105,021,648 (GRCm39) D133N probably damaging Het
Or52p1 A T 7: 104,267,486 (GRCm39) Y200F probably damaging Het
Or5v1b A G 17: 37,841,333 (GRCm39) N155S probably damaging Het
Pcnx1 T A 12: 82,042,597 (GRCm39) W2286R probably damaging Het
Ppm1g A T 5: 31,365,768 (GRCm39) N51K probably benign Het
Ppp1r13b T C 12: 111,799,981 (GRCm39) K722E probably damaging Het
Prim1 A G 10: 127,859,761 (GRCm39) S318G probably damaging Het
Prl4a1 T C 13: 28,207,307 (GRCm39) Y194H probably damaging Het
Prl7c1 A T 13: 27,957,854 (GRCm39) D195E probably benign Het
Psmb2 A G 4: 126,603,330 (GRCm39) D186G probably benign Het
Ptprq A G 10: 107,482,513 (GRCm39) V1020A probably benign Het
Scgb2b20 T C 7: 33,065,689 (GRCm39) T13A unknown Het
Scly C A 1: 91,244,830 (GRCm39) H310Q possibly damaging Het
Sdccag8 G A 1: 176,783,473 (GRCm39) E661K probably damaging Het
Sema4f G A 6: 82,894,873 (GRCm39) L441F probably benign Het
Sema4f A C 6: 82,894,874 (GRCm39) Y440* probably null Het
Tmem262 C T 19: 6,130,118 (GRCm39) probably benign Het
Trim33 A G 3: 103,236,392 (GRCm39) T501A probably damaging Het
Trio C A 15: 27,741,150 (GRCm39) V2692F possibly damaging Het
Ttn A T 2: 76,772,774 (GRCm39) V2453E unknown Het
Ttn G T 2: 76,541,956 (GRCm39) R33677S probably benign Het
Uaca T A 9: 60,778,852 (GRCm39) S1080T probably benign Het
Vav3 T A 3: 109,555,051 (GRCm39) C660S probably benign Het
Vmn1r229 T A 17: 21,034,990 (GRCm39) D78E probably damaging Het
Vmn2r73 A G 7: 85,521,179 (GRCm39) V263A probably damaging Het
Yeats2 A T 16: 19,969,260 (GRCm39) D17V probably benign Het
Zfp658 T A 7: 43,222,240 (GRCm39) W172R probably benign Het
Zfp804a A C 2: 82,089,459 (GRCm39) H1096P possibly damaging Het
Zkscan14 C T 5: 145,138,375 (GRCm39) W37* probably null Het
Zmynd15 A T 11: 70,355,017 (GRCm39) D468V probably damaging Het
Zmynd8 A T 2: 165,654,466 (GRCm39) V682E probably benign Het
Other mutations in Gnrh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R9732:Gnrh1 UTSW 14 67,985,316 (GRCm39) missense possibly damaging 0.76
R9755:Gnrh1 UTSW 14 67,986,699 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- GGCCTCATTCTCCACAGACAAG -3'
(R):5'- TGCAAAGGTTGACTGCAGTGAG -3'

Sequencing Primer
(F):5'- TCCACAGACAAGTCTTGGTG -3'
(R):5'- GGTTGACTGCAGTGAGTATATAAAG -3'
Posted On 2021-07-15