Incidental Mutation 'R8251:Fshr'
ID 640258
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 067677-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8251 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 89292380-89508103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 89507913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 43 (D43A)
Ref Sequence ENSEMBL: ENSMUSP00000040477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035701]
AlphaFold P35378
Predicted Effect probably benign
Transcript: ENSMUST00000035701
AA Change: D43A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000040477
Gene: ENSMUSG00000032937
AA Change: D43A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A T 9: 103,968,906 (GRCm39) D463V possibly damaging Het
Adamtsl4 C T 3: 95,591,884 (GRCm39) R68Q probably damaging Het
Ankrd12 A T 17: 66,291,554 (GRCm39) M1293K possibly damaging Het
Arhgap21 T C 2: 20,854,221 (GRCm39) T1724A probably benign Het
C1qtnf12 T C 4: 156,050,916 (GRCm39) I295T probably damaging Het
Cacna1s G T 1: 136,014,461 (GRCm39) G623W probably damaging Het
Cemip2 T C 19: 21,784,765 (GRCm39) V416A possibly damaging Het
Cenpe T A 3: 134,957,445 (GRCm39) probably null Het
Cep85l A T 10: 53,157,450 (GRCm39) I751N probably damaging Het
Corin T A 5: 72,514,269 (GRCm39) D468V probably damaging Het
Ctsr A G 13: 61,310,592 (GRCm39) V51A probably damaging Het
Dnah14 A C 1: 181,492,430 (GRCm39) E1630A probably damaging Het
Dsg4 C A 18: 20,604,221 (GRCm39) A896E probably damaging Het
Ear2 T C 14: 44,340,477 (GRCm39) L45P probably benign Het
Gata6 G A 18: 11,054,670 (GRCm39) G200S probably benign Het
Gnaq T A 19: 16,312,419 (GRCm39) M227K probably damaging Het
Ifit1bl1 T C 19: 34,572,232 (GRCm39) Q75R possibly damaging Het
Impg2 A G 16: 56,079,960 (GRCm39) E479G possibly damaging Het
Ints7 C T 1: 191,353,545 (GRCm39) P957L unknown Het
Jmjd1c T C 10: 67,075,068 (GRCm39) V73A noncoding transcript Het
Kansl1 A G 11: 104,315,186 (GRCm39) I284T probably benign Het
Kcnj9 A G 1: 172,154,089 (GRCm39) S12P probably benign Het
Krt16 A G 11: 100,139,196 (GRCm39) probably null Het
Lrguk A T 6: 34,093,374 (GRCm39) T632S probably benign Het
Man2b1 G A 8: 85,821,758 (GRCm39) V687M probably damaging Het
Mroh5 T C 15: 73,655,002 (GRCm39) E653G probably benign Het
Nabp1 A T 1: 51,516,737 (GRCm39) S44T probably benign Het
Nt5dc3 C A 10: 86,656,091 (GRCm39) H256Q probably damaging Het
Or1j15 A C 2: 36,459,467 (GRCm39) N286H probably damaging Het
Or4a81 A T 2: 89,619,567 (GRCm39) I43N probably damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Pkd2 T C 5: 104,646,353 (GRCm39) V720A probably benign Het
Pnpla6 T A 8: 3,582,399 (GRCm39) N706K probably benign Het
Polr1b C A 2: 128,965,086 (GRCm39) P724Q probably damaging Het
Rbpjl A G 2: 164,255,854 (GRCm39) E366G probably damaging Het
Runx1t1 A G 4: 13,846,947 (GRCm39) T244A possibly damaging Het
Slitrk3 C T 3: 72,956,729 (GRCm39) R681H possibly damaging Het
Slu7 A G 11: 43,330,128 (GRCm39) Y185C probably damaging Het
Snupn T A 9: 56,888,137 (GRCm39) F231L probably damaging Het
Srpk2 G A 5: 23,729,266 (GRCm39) P458S probably benign Het
St3gal5 T A 6: 72,126,144 (GRCm39) F330I probably benign Het
Taf3 T C 2: 9,922,962 (GRCm39) D878G possibly damaging Het
Tex44 A G 1: 86,354,936 (GRCm39) N282D probably benign Het
Tmem126a T C 7: 90,100,094 (GRCm39) I150V probably benign Het
Trbv21 A G 6: 41,179,540 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,215,186 (GRCm39) L116* probably null Het
Vps36 A G 8: 22,682,932 (GRCm39) T16A probably benign Het
Wdr17 C A 8: 55,110,267 (GRCm39) G837W probably damaging Het
Zfp397 T C 18: 24,093,361 (GRCm39) V282A 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
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
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'- ATGGCCTTCCCTGACAAAC -3'
(R):5'- GAATCCGTGGAGGTTTTCGC -3'

Sequencing Primer
(F):5'- TCTCCCTGGAAAGCCACAGG -3'
(R):5'- AGGTTTTCGCTGCTGGAGC -3'
Posted On 2020-07-28