Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03383:Fshr'

420781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fshr

Ensembl Gene

ENSMUSG00000032937

Gene Name

follicle stimulating hormone receptor

Synonyms

follicle-stimulating hormone receptor, FSH-R, Follitropin receptor

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03383

Quality Score

Status

Chromosome

Chromosomal Location

89292380-89508103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89293121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 519 (M519T)

Ref Sequence

ENSEMBL: ENSMUSP00000040477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035701]

AlphaFold

P35378

Predicted Effect

probably damaging
Transcript: ENSMUST00000035701
AA Change: M519T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040477
Gene: ENSMUSG00000032937
AA Change: M519T

Domain	Start	End	E-Value	Type
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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	C	T	4: 111,514,620 (GRCm39)		probably benign	Het
Cit	T	C	5: 116,011,904 (GRCm39)		probably benign	Het
Clmp	A	G	9: 40,685,737 (GRCm39)	N211S	probably damaging	Het
Cnot2	A	G	10: 116,330,722 (GRCm39)		probably benign	Het
Cntn6	A	G	6: 104,753,418 (GRCm39)		probably benign	Het
Dnajb9	C	T	12: 44,255,096 (GRCm39)		probably benign	Het
Ece2	T	A	16: 20,451,847 (GRCm39)	N411K	possibly damaging	Het
Gm10654	G	A	8: 71,384,775 (GRCm39)		noncoding transcript	Het
Gm5093	A	G	17: 46,750,517 (GRCm39)	I170T	probably benign	Het
Meis3	A	G	7: 15,917,744 (GRCm39)	K299R	probably damaging	Het
Nxf1	T	C	19: 8,741,061 (GRCm39)	F15L	probably damaging	Het
Nxpe3	T	C	16: 55,670,076 (GRCm39)	D343G	probably benign	Het
Or4a73	A	T	2: 89,420,656 (GRCm39)	Y268N	probably benign	Het
Polr3k	A	G	2: 181,507,820 (GRCm39)	T65A	probably damaging	Het
Preb	A	T	5: 31,115,665 (GRCm39)	W222R	probably damaging	Het
Psmd11	T	C	11: 80,360,671 (GRCm39)	I56T	probably damaging	Het
Rtkn2	A	G	10: 67,853,667 (GRCm39)	T232A	probably damaging	Het
Scaf11	T	C	15: 96,318,064 (GRCm39)		probably null	Het
Slc4a10	A	T	2: 62,097,780 (GRCm39)	K493M	probably damaging	Het
Stard10	A	G	7: 100,991,777 (GRCm39)	K112E	probably damaging	Het
Sugp1	A	T	8: 70,522,217 (GRCm39)		probably benign	Het
Tasor	A	G	14: 27,163,918 (GRCm39)	I235V	possibly damaging	Het
Tmem156	T	C	5: 65,233,040 (GRCm39)	E139G	probably damaging	Het
Tubd1	C	T	11: 86,439,834 (GRCm39)		probably benign	Het
Uap1	G	A	1: 169,986,460 (GRCm39)	T174M	probably damaging	Het
Vmn2r13	T	C	5: 109,304,398 (GRCm39)	T678A	probably damaging	Het
Vmn2r84	A	T	10: 130,222,556 (GRCm39)	C555S	probably damaging	Het
Vps13d	T	C	4: 144,894,889 (GRCm39)		probably null	Het
Vps8	T	C	16: 21,254,573 (GRCm39)		probably null	Het
Wee1	A	G	7: 109,738,899 (GRCm39)	N590S	probably damaging	Het
Zfp112	C	A	7: 23,825,103 (GRCm39)	S357Y	probably damaging	Het
Zfp423	T	A	8: 88,586,080 (GRCm39)	K48*	probably null	Het
Zscan4d	A	G	7: 10,896,692 (GRCm39)	V226A	probably benign	Het

Other mutations in Fshr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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	89,354,127 (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
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

2016-08-02