Mutagenetix > Incidental Mutation

Incidental Mutation 'R6589:Fshr'

524541

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

044713-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6589 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89292380-89508103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89296035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 224 (D224G)

Ref Sequence

ENSEMBL: ENSMUSP00000040477 (fasta)

Gene Model

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

AlphaFold

P35378

Predicted Effect

probably damaging
Transcript: ENSMUST00000035701
AA Change: D224G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040477
Gene: ENSMUSG00000032937
AA Change: D224G

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

Meta Mutation Damage Score

0.8718

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

100% (26/26)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	G	A	13: 112,485,397 (GRCm39)		probably null	Het
Asic2	G	T	11: 80,777,430 (GRCm39)	A427D	possibly damaging	Het
B3gnt2	T	A	11: 22,787,117 (GRCm39)	I24F	probably damaging	Het
BC030500	T	C	8: 59,365,956 (GRCm39)		probably benign	Het
Cdh4	G	A	2: 179,523,789 (GRCm39)		probably null	Het
Cramp1	T	C	17: 25,196,466 (GRCm39)		probably null	Het
Fam72a	A	T	1: 131,461,554 (GRCm39)	I80F	probably damaging	Het
Fbxo43	T	C	15: 36,162,686 (GRCm39)	T174A	probably damaging	Het
Fgf11	C	A	11: 69,690,261 (GRCm39)	V109L	probably damaging	Het
Fggy	A	G	4: 95,485,875 (GRCm39)	I74V	probably benign	Het
Gm6465	A	G	5: 11,898,128 (GRCm39)	T81A	possibly damaging	Het
Hdac9	T	C	12: 34,265,028 (GRCm39)	E908G	probably damaging	Het
Hspa4l	T	G	3: 40,711,487 (GRCm39)	L121V	probably damaging	Het
Klk1b16	A	G	7: 43,790,894 (GRCm39)	D232G	probably benign	Het
Lpl	G	T	8: 69,349,459 (GRCm39)	M328I	probably benign	Het
Mgat4a	T	C	1: 37,483,976 (GRCm39)	E498G	probably damaging	Het
Mup11	T	A	4: 60,615,540 (GRCm39)	Q91L	possibly damaging	Het
Myoc	T	A	1: 162,476,188 (GRCm39)	Y297*	probably null	Het
Or14j5	T	A	17: 38,161,727 (GRCm39)	Y81*	probably null	Het
Semp2l1	A	T	1: 32,585,792 (GRCm39)	D39E	probably benign	Het
Siva1	A	G	12: 112,613,272 (GRCm39)	E40G	probably damaging	Het
Smarca2	T	A	19: 26,597,284 (GRCm39)	H55Q	possibly damaging	Het
Taf1b	A	G	12: 24,606,527 (GRCm39)	E449G	possibly damaging	Het
Tafa2	T	A	10: 123,540,297 (GRCm39)	V51E	probably damaging	Het
Tcaf3	A	T	6: 42,570,995 (GRCm39)	N252K	possibly damaging	Het
Trim3	A	G	7: 105,267,167 (GRCm39)	L404P	probably damaging	Het
Vmn2r114	T	C	17: 23,510,642 (GRCm39)	T613A	probably damaging	Het
Vmn2r-ps158	T	A	7: 42,673,022 (GRCm39)	S142T	possibly damaging	Het
Zfp358	T	A	8: 3,545,907 (GRCm39)	F163Y	probably damaging	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	89,293,121 (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
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'- ACTGTGTGAAGGCCCAAGAC -3'
(R):5'- AAGCTGAATGTTGACCTGGC -3'

Sequencing Primer
(F):5'- GGACATAGAATACTCACGTTTGCCG -3'
(R):5'- GCCTGTATGTGCTGTGAAACTAAAG -3'

Posted On

2018-06-22