Incidental Mutation 'R0499:Fshr'
ID 47068
Institutional Source Beutler Lab
Gene Symbol Fshr
Ensembl Gene ENSMUSG00000032937
Gene Name follicle stimulating hormone receptor
Synonyms follicle-stimulating hormone receptor, FSH-R, Follitropin receptor
MMRRC Submission 038695-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0499 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 89292380-89508103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 89316713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 169 (S169T)
Ref Sequence ENSEMBL: ENSMUSP00000040477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035701]
AlphaFold P35378
Predicted Effect probably benign
Transcript: ENSMUST00000035701
AA Change: S169T

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040477
Gene: ENSMUSG00000032937
AA Change: S169T

DomainStartEndE-ValueType
LRRNT 17 50 3.93e-3 SMART
Pfam:LRR_5 134 249 9e-7 PFAM
Pfam:GnHR_trans 282 348 4.6e-27 PFAM
Pfam:7tm_1 378 625 1.9e-30 PFAM
Meta Mutation Damage Score 0.2490 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 99% (97/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous null mutant females are sterile with small ovaries, blocked follicular development, atrophic uterus and imperforate vagina. Mutant males are fertile despite reduction in testis weight, oligozoospermia and reduced testosterone levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,139,564 (GRCm39) V388A probably damaging Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adap2 A T 11: 80,066,905 (GRCm39) R276S probably damaging Het
Agbl3 A T 6: 34,816,270 (GRCm39) M727L probably benign Het
Ahnak T A 19: 8,977,628 (GRCm39) probably benign Het
Ankmy1 G T 1: 92,813,948 (GRCm39) D410E probably damaging Het
Ankra2 T C 13: 98,402,962 (GRCm39) S70P probably damaging Het
Aox4 T C 1: 58,302,556 (GRCm39) probably null Het
Arl13b G A 16: 62,622,096 (GRCm39) T399I probably benign Het
Atad2 A T 15: 57,966,636 (GRCm39) D652E possibly damaging Het
Atad2 T G 15: 57,984,345 (GRCm39) M328L probably benign Het
Ccnb1 T C 13: 100,916,642 (GRCm39) probably null Het
Ccr2 G C 9: 123,905,976 (GRCm39) K85N possibly damaging Het
Ccr2 A T 9: 123,906,163 (GRCm39) T148S possibly damaging Het
Cdc20b T C 13: 113,192,484 (GRCm39) V59A probably benign Het
Cdin1 C T 2: 115,473,172 (GRCm39) R101W probably damaging Het
Cdkl3 T C 11: 51,923,243 (GRCm39) S507P possibly damaging Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Ces1g A G 8: 94,060,317 (GRCm39) F101L probably benign Het
Cimap1d T C 10: 79,476,099 (GRCm39) D155G probably damaging Het
Cntnap3 C T 13: 65,006,492 (GRCm39) D107N probably benign Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Col27a1 A G 4: 63,218,978 (GRCm39) probably benign Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Cstf3 A G 2: 104,479,950 (GRCm39) I272M possibly damaging Het
Cyp2d40 T C 15: 82,645,418 (GRCm39) T150A probably benign Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Dop1b A T 16: 93,567,325 (GRCm39) T1251S probably benign Het
Dtx2 G A 5: 136,057,957 (GRCm39) G421R probably damaging Het
Epb41l3 T A 17: 69,554,654 (GRCm39) D251E probably benign Het
Erg A C 16: 95,161,842 (GRCm39) Y305* probably null Het
Exosc4 G A 15: 76,213,766 (GRCm39) A197T probably benign Het
Fam227b T A 2: 125,942,829 (GRCm39) I323L probably benign Het
Far1 G T 7: 113,153,503 (GRCm39) probably benign Het
Fmod A G 1: 133,968,934 (GRCm39) I325V possibly damaging Het
Gm4076 G T 13: 85,275,345 (GRCm39) noncoding transcript Het
Gm5134 A T 10: 75,828,359 (GRCm39) Y313F probably benign Het
H2-Q6 T A 17: 35,644,179 (GRCm39) F54I probably damaging Het
Hcrtr2 C A 9: 76,161,954 (GRCm39) L145F probably damaging Het
Hepacam2 A G 6: 3,476,121 (GRCm39) L268P probably damaging Het
Herc2 C A 7: 55,834,117 (GRCm39) C3107* probably null Het
Herc4 T C 10: 63,099,811 (GRCm39) V78A probably damaging Het
Hyal5 T C 6: 24,877,920 (GRCm39) W339R probably damaging Het
Igfbp6 T A 15: 102,056,419 (GRCm39) probably null Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Il1r2 T A 1: 40,162,309 (GRCm39) Y317* probably null Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Itgb4 C A 11: 115,870,521 (GRCm39) R117S probably benign Het
Lcorl C G 5: 45,891,711 (GRCm39) G214A probably benign Het
Lgals3bp T A 11: 118,289,019 (GRCm39) probably null Het
Lyst T A 13: 13,791,298 (GRCm39) L54I probably damaging Het
Mcm9 T C 10: 53,414,250 (GRCm39) T1015A probably benign Het
Mef2d T A 3: 88,063,825 (GRCm39) I84N probably damaging Het
Mmrn2 A G 14: 34,119,913 (GRCm39) N261S probably damaging Het
Mpdz T C 4: 81,210,768 (GRCm39) T1693A probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Mstn T A 1: 53,103,143 (GRCm39) Y160N probably damaging Het
Muc6 T C 7: 141,226,735 (GRCm39) T1431A probably benign Het
Nek9 A T 12: 85,348,657 (GRCm39) M959K probably benign Het
Or2ak6 G A 11: 58,593,069 (GRCm39) V181I probably benign Het
Or4f58 A T 2: 111,851,777 (GRCm39) C141S probably damaging Het
Or8b47 A T 9: 38,435,801 (GRCm39) M258L probably benign Het
Otog G T 7: 45,923,256 (GRCm39) G1044W probably damaging Het
Pcdh9 G A 14: 94,123,671 (GRCm39) T833M probably damaging Het
Pdcd10 T C 3: 75,434,958 (GRCm39) K111R probably damaging Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Plekhg1 T C 10: 3,887,971 (GRCm39) V355A probably damaging Het
Podn G T 4: 107,878,791 (GRCm39) L359I probably damaging Het
Psd T C 19: 46,310,600 (GRCm39) E483G probably damaging Het
Ptch2 T A 4: 116,968,340 (GRCm39) L905* probably null Het
Rxfp2 T A 5: 149,989,880 (GRCm39) N420K probably damaging Het
Scpppq1 C A 5: 104,222,747 (GRCm39) G24* probably null Het
Sde2 T A 1: 180,689,992 (GRCm39) D237E probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Serpina9 T C 12: 103,967,729 (GRCm39) N222S probably benign Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Shc3 C T 13: 51,634,264 (GRCm39) probably benign Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Slc23a2 A G 2: 131,913,937 (GRCm39) L280P probably damaging Het
Smchd1 G T 17: 71,694,083 (GRCm39) Q1221K probably benign Het
Spmip2 T A 3: 79,313,093 (GRCm39) W56R probably damaging Het
Spocd1 A G 4: 129,849,263 (GRCm39) N694S possibly damaging Het
Styxl2 C A 1: 165,926,670 (GRCm39) V981L probably benign Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tmem131 A T 1: 36,880,754 (GRCm39) V172D probably damaging Het
Trpm3 T C 19: 22,964,237 (GRCm39) M1244T possibly damaging Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Usp17le T C 7: 104,417,708 (GRCm39) N478S probably benign Het
Usp36 A G 11: 118,164,397 (GRCm39) V205A probably damaging Het
Vmn1r25 T A 6: 57,955,494 (GRCm39) Q265L probably damaging Het
Vwf A T 6: 125,615,077 (GRCm39) H1176L probably benign Het
Zfyve28 C T 5: 34,389,550 (GRCm39) D217N possibly damaging Het
Zranb3 A C 1: 127,882,817 (GRCm39) probably null Het
Other mutations in Fshr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Fshr APN 17 89,293,619 (GRCm39) missense probably damaging 1.00
IGL00272:Fshr APN 17 89,292,699 (GRCm39) missense probably benign 0.00
IGL01067:Fshr APN 17 89,292,821 (GRCm39) missense possibly damaging 0.95
IGL02093:Fshr APN 17 89,309,317 (GRCm39) splice site probably null
IGL03184:Fshr APN 17 89,354,068 (GRCm39) missense possibly damaging 0.80
IGL03383:Fshr APN 17 89,293,121 (GRCm39) missense probably damaging 0.98
IGL03383:Fshr APN 17 89,354,127 (GRCm39) missense possibly damaging 0.69
Absolut UTSW 17 89,292,770 (GRCm39) missense possibly damaging 0.89
benedict UTSW 17 89,292,897 (GRCm39) missense probably damaging 1.00
incremental UTSW 17 89,293,414 (GRCm39) missense probably damaging 1.00
positively UTSW 17 89,296,035 (GRCm39) missense probably damaging 1.00
R0056:Fshr UTSW 17 89,295,885 (GRCm39) missense probably damaging 1.00
R0119:Fshr UTSW 17 89,316,713 (GRCm39) missense probably benign 0.34
R0299:Fshr UTSW 17 89,316,713 (GRCm39) missense probably benign 0.34
R0550:Fshr UTSW 17 89,352,553 (GRCm39) missense probably benign 0.00
R1499:Fshr UTSW 17 89,293,529 (GRCm39) missense probably damaging 1.00
R1656:Fshr UTSW 17 89,508,009 (GRCm39) missense unknown
R2435:Fshr UTSW 17 89,508,024 (GRCm39) missense unknown
R3730:Fshr UTSW 17 89,309,143 (GRCm39) missense probably benign 0.00
R3928:Fshr UTSW 17 89,292,962 (GRCm39) missense probably damaging 1.00
R4065:Fshr UTSW 17 89,293,394 (GRCm39) missense probably damaging 1.00
R4625:Fshr UTSW 17 89,293,148 (GRCm39) missense probably damaging 1.00
R5062:Fshr UTSW 17 89,293,474 (GRCm39) nonsense probably null
R5103:Fshr UTSW 17 89,404,796 (GRCm39) missense possibly damaging 0.88
R5212:Fshr UTSW 17 89,293,685 (GRCm39) missense probably benign 0.04
R5212:Fshr UTSW 17 89,293,684 (GRCm39) missense probably benign 0.00
R5311:Fshr UTSW 17 89,318,441 (GRCm39) critical splice donor site probably null
R5456:Fshr UTSW 17 89,293,776 (GRCm39) missense probably benign
R5478:Fshr UTSW 17 89,309,143 (GRCm39) missense probably benign 0.00
R5577:Fshr UTSW 17 89,293,351 (GRCm39) missense probably benign 0.00
R5651:Fshr UTSW 17 89,293,257 (GRCm39) missense possibly damaging 0.62
R5715:Fshr UTSW 17 89,293,824 (GRCm39) critical splice acceptor site probably null
R5750:Fshr UTSW 17 89,293,669 (GRCm39) missense probably benign 0.01
R5797:Fshr UTSW 17 89,318,503 (GRCm39) missense probably damaging 1.00
R6041:Fshr UTSW 17 89,293,414 (GRCm39) missense probably damaging 1.00
R6306:Fshr UTSW 17 89,507,961 (GRCm39) missense probably null 0.00
R6589:Fshr UTSW 17 89,296,035 (GRCm39) missense probably damaging 1.00
R6955:Fshr UTSW 17 89,292,894 (GRCm39) missense probably benign 0.00
R7080:Fshr UTSW 17 89,404,539 (GRCm39) splice site probably null
R7139:Fshr UTSW 17 89,293,589 (GRCm39) missense possibly damaging 0.46
R7196:Fshr UTSW 17 89,292,897 (GRCm39) missense probably damaging 1.00
R7197:Fshr UTSW 17 89,292,897 (GRCm39) missense probably damaging 1.00
R7289:Fshr UTSW 17 89,293,272 (GRCm39) missense probably benign 0.35
R7480:Fshr UTSW 17 89,292,802 (GRCm39) nonsense probably null
R7562:Fshr UTSW 17 89,295,925 (GRCm39) missense probably damaging 1.00
R7710:Fshr UTSW 17 89,292,683 (GRCm39) missense probably benign 0.00
R7742:Fshr UTSW 17 89,293,590 (GRCm39) missense probably benign
R7821:Fshr UTSW 17 89,293,641 (GRCm39) missense probably damaging 0.99
R8043:Fshr UTSW 17 89,293,818 (GRCm39) missense probably benign 0.06
R8251:Fshr UTSW 17 89,507,913 (GRCm39) missense probably benign 0.02
R8475:Fshr UTSW 17 89,293,456 (GRCm39) missense probably damaging 1.00
R8489:Fshr UTSW 17 89,293,795 (GRCm39) missense probably benign 0.00
R9115:Fshr UTSW 17 89,292,948 (GRCm39) missense probably damaging 1.00
R9200:Fshr UTSW 17 89,354,103 (GRCm39) missense probably benign 0.01
R9411:Fshr UTSW 17 89,293,148 (GRCm39) missense probably damaging 1.00
R9709:Fshr UTSW 17 89,293,265 (GRCm39) missense probably damaging 1.00
Z1176:Fshr UTSW 17 89,354,095 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAGAAGCCTTGCCATGCAGTAATC -3'
(R):5'- GCCATTTGTTGCCCAAACTTTGAGC -3'

Sequencing Primer
(F):5'- ACGTGACTCCATGTTGAGATTC -3'
(R):5'- GAGCTTATCCTCTGAACAAAAACTC -3'
Posted On 2013-06-12