Incidental Mutation 'R5212:Fshr'
ID 403216
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 042786-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5212 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 89292380-89508103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89293684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 331 (E331D)
Ref Sequence ENSEMBL: ENSMUSP00000040477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035701]
AlphaFold P35378
Predicted Effect probably benign
Transcript: ENSMUST00000035701
AA Change: E331D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040477
Gene: ENSMUSG00000032937
AA Change: E331D

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (58/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,771,611 (GRCm39) S267T possibly damaging Het
Abca9 T C 11: 109,998,052 (GRCm39) D1514G probably benign Het
Adamtsl4 T A 3: 95,584,980 (GRCm39) D896V probably damaging Het
Amer2 A G 14: 60,617,269 (GRCm39) Y362C probably damaging Het
Arglu1 T A 8: 8,733,843 (GRCm39) R158W probably damaging Het
Arhgef7 A G 8: 11,778,388 (GRCm39) E46G probably benign Het
Atg2b A G 12: 105,613,055 (GRCm39) V1172A probably benign Het
Bhlhe23 T A 2: 180,417,886 (GRCm39) K217N probably damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Ccp110 C T 7: 118,328,919 (GRCm39) A845V probably damaging Het
Cd63 A G 10: 128,747,722 (GRCm39) Y105C probably damaging Het
Cdk11b T C 4: 155,723,072 (GRCm39) probably null Het
Clip1 T A 5: 123,768,744 (GRCm39) R618S probably benign Het
Crybg1 A T 10: 43,843,739 (GRCm39) F1731L possibly damaging Het
Dock1 A C 7: 134,390,923 (GRCm39) K728Q possibly damaging Het
Emc2 A G 15: 43,374,240 (GRCm39) E180G probably damaging Het
F13b A T 1: 139,440,725 (GRCm39) I394F probably benign Het
Fnta A G 8: 26,499,735 (GRCm39) I155T probably benign Het
Gas2l1 A T 11: 5,011,108 (GRCm39) C574S probably benign Het
Ggnbp2 T A 11: 84,744,847 (GRCm39) probably benign Het
Gm3371 A C 14: 44,641,111 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,016 (GRCm39) probably benign Het
Hand1 A C 11: 57,722,273 (GRCm39) F114V probably damaging Het
Itga4 A C 2: 79,110,939 (GRCm39) H259P probably damaging Het
Jakmip1 A T 5: 37,262,245 (GRCm39) H183L probably benign Het
Kifbp A T 10: 62,398,908 (GRCm39) probably benign Het
Krt8 G T 15: 101,906,402 (GRCm39) A369D possibly damaging Het
Krt82 T C 15: 101,453,484 (GRCm39) S301G probably damaging Het
Lig3 A G 11: 82,678,504 (GRCm39) T248A probably benign Het
Madcam1 C G 10: 79,504,179 (GRCm39) T255S probably benign Het
Med20 T C 17: 47,929,775 (GRCm39) Y71H probably benign Het
Mtss2 A G 8: 111,455,850 (GRCm39) I107V probably damaging Het
Nans T C 4: 46,502,547 (GRCm39) F328S possibly damaging Het
Ncbp3 A G 11: 72,944,373 (GRCm39) probably benign Het
Nek8 T C 11: 78,063,342 (GRCm39) M1V probably null Het
Nufip1 A T 14: 76,370,538 (GRCm39) N413I possibly damaging Het
Pbx3 T C 2: 34,178,793 (GRCm39) probably benign Het
Plppr3 C T 10: 79,698,279 (GRCm39) G419R probably benign Het
Rfx1 G T 8: 84,793,221 (GRCm39) probably benign Het
Rnpepl1 C T 1: 92,839,045 (GRCm39) A68V probably benign Het
Rsbn1l A T 5: 21,101,212 (GRCm39) M776K probably benign Het
Setd7 A T 3: 51,450,238 (GRCm39) Y63N probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Snap47 T C 11: 59,319,178 (GRCm39) E320G probably damaging Het
Spaca6 C A 17: 18,058,656 (GRCm39) P68Q probably benign Het
Tdrd3 G C 14: 87,743,651 (GRCm39) R527P probably damaging Het
Tmprss2 G T 16: 97,377,492 (GRCm39) Q202K probably benign Het
Tmprss6 A G 15: 78,330,460 (GRCm39) V69A probably damaging Het
Trav6-1 A T 14: 52,876,161 (GRCm39) Q27L probably benign Het
Ttn C T 2: 76,731,957 (GRCm39) probably benign Het
Ttn T C 2: 76,619,945 (GRCm39) I15908V probably benign Het
Ttn T A 2: 76,628,019 (GRCm39) D12931V probably damaging Het
Ush2a T A 1: 188,176,902 (GRCm39) probably null Het
Wls A G 3: 159,578,645 (GRCm39) N69S 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
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
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
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'- GTCAGGACCACCAGCACT -3'
(R):5'- TTTGCCATCCTGTAACAAGGATG -3'

Sequencing Primer
(F):5'- ACCAGCACTGTGGTGTTC -3'
(R):5'- GTGGTCATGGCCAACCTCTAC -3'
Posted On 2016-07-22