Incidental Mutation 'R5577:Fshr'
ID 437278
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 043132-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5577 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 89292380-89508103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89293351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 442 (D442E)
Ref Sequence ENSEMBL: ENSMUSP00000040477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035701]
AlphaFold P35378
Predicted Effect probably benign
Transcript: ENSMUST00000035701
AA Change: D442E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040477
Gene: ENSMUSG00000032937
AA Change: D442E

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 127,835,826 (GRCm39) Y256D probably damaging Het
Acr C A 15: 89,458,441 (GRCm39) T374K probably benign Het
Akt2 G A 7: 27,335,731 (GRCm39) G335R probably damaging Het
Ccn3 T A 15: 54,615,897 (GRCm39) I354N possibly damaging Het
Cd177 A T 7: 24,444,562 (GRCm39) F673Y probably damaging Het
Clmn G T 12: 104,743,329 (GRCm39) S879R probably damaging Het
Csrp3 T C 7: 48,489,225 (GRCm39) H19R possibly damaging Het
Dmkn T C 7: 30,463,971 (GRCm39) S137P probably damaging Het
Eno1 C A 4: 150,331,067 (GRCm39) Y236* probably null Het
Enpp7 T A 11: 118,882,953 (GRCm39) N342K probably benign Het
Fancm T A 12: 65,177,185 (GRCm39) probably benign Het
Gm3898 T A 9: 43,741,362 (GRCm39) noncoding transcript Het
Hdac7 A T 15: 97,709,336 (GRCm39) S43T probably benign Het
Herc1 T C 9: 66,389,263 (GRCm39) C3927R probably damaging Het
Klc4 G T 17: 46,946,355 (GRCm39) A490D probably damaging Het
Lcn9 T A 2: 25,713,663 (GRCm39) I63N probably damaging Het
Lgalsl G A 11: 20,779,316 (GRCm39) Q110* probably null Het
Lrp1b A T 2: 40,765,135 (GRCm39) M2783K possibly damaging Het
Lrrk2 A T 15: 91,649,948 (GRCm39) Y1695F probably damaging Het
Myo1e G A 9: 70,277,753 (GRCm39) E817K probably benign Het
Nav3 A T 10: 109,605,264 (GRCm39) D936E probably damaging Het
Necab3 T C 2: 154,387,076 (GRCm39) probably null Het
Nlrp1a T A 11: 70,990,400 (GRCm39) I951F probably damaging Het
Or5v1 T A 17: 37,810,493 (GRCm39) I317K probably benign Het
Or8b52 A G 9: 38,576,297 (GRCm39) I281T possibly damaging Het
Ppp2r5d T C 17: 46,998,901 (GRCm39) S54G probably benign Het
Prdx6 A G 1: 161,071,255 (GRCm39) S146P probably damaging Het
Sec24a A T 11: 51,625,448 (GRCm39) H258Q probably benign Het
Sec31a T C 5: 100,550,133 (GRCm39) T194A possibly damaging Het
Sqstm1 T C 11: 50,098,266 (GRCm39) I167V probably benign Het
Tas1r3 T C 4: 155,946,522 (GRCm39) E361G probably benign Het
Tlr1 T A 5: 65,083,428 (GRCm39) Q383L possibly damaging Het
Trappc8 G C 18: 20,969,836 (GRCm39) Y1051* probably null Het
Vmn2r2 T A 3: 64,024,416 (GRCm39) M722L probably benign Het
Vmn2r43 T C 7: 8,247,811 (GRCm39) H784R probably damaging Het
Zfp534 T G 4: 147,759,173 (GRCm39) K499Q probably damaging 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
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'- GCAGATGCTCACTTTCATGTAG -3'
(R):5'- TCACTGGGAACACCACAGTG -3'

Sequencing Primer
(F):5'- CATGTAGCTACTGATGCCAAAG -3'
(R):5'- ACAGTGCTGGTGGTCCTGAC -3'
Posted On 2016-10-26