Incidental Mutation 'R0056:Fshr'
ID 16271
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 038350-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0056 (G1)
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 89292380-89508103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 89295885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 274 (H274P)
Ref Sequence ENSEMBL: ENSMUSP00000040477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035701]
AlphaFold P35378
Predicted Effect probably damaging
Transcript: ENSMUST00000035701
AA Change: H274P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040477
Gene: ENSMUSG00000032937
AA Change: H274P

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 0.8655 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.7%
  • 20x: 65.9%
Validation Efficiency 89% (66/74)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,540 (GRCm39) C561* probably null Het
Ankfn1 A G 11: 89,282,502 (GRCm39) S1061P possibly damaging Het
Atp9b A G 18: 80,809,018 (GRCm39) S634P probably damaging Het
Bche A T 3: 73,608,654 (GRCm39) N257K possibly damaging Het
Bms1 A T 6: 118,382,190 (GRCm39) D449E probably benign Het
C630050I24Rik G T 8: 107,846,026 (GRCm39) V59F unknown Het
Camkk2 C T 5: 122,880,261 (GRCm39) E452K probably damaging Het
Ccdc121rt1 T C 1: 181,338,118 (GRCm39) Y278C probably damaging Het
Chd9 A G 8: 91,660,165 (GRCm39) H375R possibly damaging Het
Entpd7 T A 19: 43,713,733 (GRCm39) V364E probably benign Het
Epb41l3 A T 17: 69,560,392 (GRCm39) D313V probably damaging Het
Etv6 G T 6: 134,225,497 (GRCm39) E154* probably null Het
G3bp1 A G 11: 55,388,867 (GRCm39) N360D probably benign Het
Gdf11 C T 10: 128,722,294 (GRCm39) R187H probably benign Het
Gpihbp1 T A 15: 75,468,982 (GRCm39) I52N probably damaging Het
H1f8 G T 6: 115,923,934 (GRCm39) probably benign Het
Htt T C 5: 34,983,422 (GRCm39) probably benign Het
Iqcm A G 8: 76,480,014 (GRCm39) Q324R probably benign Het
Kcng3 A G 17: 83,895,185 (GRCm39) L427P probably damaging Het
Klk7 T C 7: 43,461,434 (GRCm39) L17P possibly damaging Het
Klrd1 G A 6: 129,570,738 (GRCm39) V50I probably benign Het
Lama5 A T 2: 179,828,899 (GRCm39) probably benign Het
Lamtor3 T A 3: 137,632,711 (GRCm39) probably benign Het
Lyplal1 G A 1: 185,820,763 (GRCm39) T228I probably benign Het
Mapk6 A G 9: 75,296,098 (GRCm39) Y467H possibly damaging Het
Marchf6 T C 15: 31,467,880 (GRCm39) T776A possibly damaging Het
Mogat1 T G 1: 78,500,407 (GRCm39) M157R probably damaging Het
Morc2b T A 17: 33,357,733 (GRCm39) Q13L possibly damaging Het
Myo1h C T 5: 114,468,273 (GRCm39) T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 (GRCm38) probably null Het
Nobox A G 6: 43,281,853 (GRCm39) C407R probably benign Het
Nup58 A G 14: 60,476,924 (GRCm39) probably null Het
Or56a4 A G 7: 104,806,329 (GRCm39) S187P probably benign Het
Otoa A G 7: 120,730,570 (GRCm39) Y590C probably benign Het
Pelp1 A T 11: 70,284,658 (GRCm39) V1070E unknown Het
Pglyrp3 G T 3: 91,933,111 (GRCm39) probably benign Het
Plpp2 A G 10: 79,363,063 (GRCm39) F189S probably damaging Het
Polr2b T C 5: 77,482,382 (GRCm39) I640T possibly damaging Het
Ryr2 T A 13: 11,683,924 (GRCm39) T3047S probably damaging Het
Snx25 A T 8: 46,491,550 (GRCm39) W847R probably damaging Het
Son T C 16: 91,475,043 (GRCm39) Y454H possibly damaging Het
Sos1 A T 17: 80,721,050 (GRCm39) N923K probably damaging Het
Tex15 A G 8: 34,072,055 (GRCm39) H2534R probably benign Het
Ticam2 G T 18: 46,693,401 (GRCm39) Q229K possibly damaging Het
Tnfaip3 A T 10: 18,881,041 (GRCm39) V342E probably damaging Het
Traf6 A G 2: 101,527,496 (GRCm39) I415M possibly damaging Het
Trpm1 A G 7: 63,893,334 (GRCm39) D1062G probably damaging Het
Wdr59 C T 8: 112,207,239 (GRCm39) probably benign 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
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
R0499: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
Posted On 2013-01-20