Mutagenetix > Incidental Mutation

Incidental Mutation 'R1656:Fshr'

189147

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

039692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1656 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89292380-89508103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89508009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 11 (F11S)

Ref Sequence

ENSEMBL: ENSMUSP00000040477 (fasta)

Gene Model

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

AlphaFold

P35378

Predicted Effect

unknown
Transcript: ENSMUST00000035701
AA Change: F11S

SMART Domains

Protein: ENSMUSP00000040477
Gene: ENSMUSG00000032937
AA Change: F11S

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

0.3025

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (79/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	T	14: 32,099,901 (GRCm39)	I42N	possibly damaging	Het
Adarb2	T	A	13: 8,253,287 (GRCm39)	S11T	unknown	Het
Adgrg1	C	T	8: 95,738,438 (GRCm39)	Q644*	probably null	Het
Akr1c18	T	G	13: 4,195,252 (GRCm39)	I69L	probably benign	Het
Anxa9	C	T	3: 95,207,884 (GRCm39)	V219I	probably benign	Het
Aqp9	T	C	9: 71,045,385 (GRCm39)	T101A	probably benign	Het
Arhgef1	C	T	7: 24,613,057 (GRCm39)	R251W	probably damaging	Het
Arl13b	T	A	16: 62,627,007 (GRCm39)	E231D	possibly damaging	Het
Atosa	C	T	9: 74,916,241 (GRCm39)	A280V	probably benign	Het
Bcl2l11	C	T	2: 128,000,176 (GRCm39)	A173V	probably benign	Het
Ccni	A	T	5: 93,335,933 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,474,485 (GRCm39)	E785G	probably benign	Het
Cdk4	A	G	10: 126,900,849 (GRCm39)	Y167C	probably benign	Het
Clip1	A	C	5: 123,768,466 (GRCm39)	V757G	possibly damaging	Het
Ctsc	T	C	7: 87,930,616 (GRCm39)	V65A	possibly damaging	Het
Cuedc2	G	A	19: 46,320,427 (GRCm39)	S48L	probably damaging	Het
Cyp39a1	T	A	17: 43,978,510 (GRCm39)	M4K	possibly damaging	Het
Dgcr8	T	C	16: 18,074,577 (GRCm39)	S733G	probably benign	Het
Dnhd1	T	C	7: 105,363,488 (GRCm39)	S4017P	probably damaging	Het
Ehbp1	A	G	11: 22,096,694 (GRCm39)	I255T	probably benign	Het
Fam83e	T	C	7: 45,371,687 (GRCm39)	V28A	probably benign	Het
Fanci	A	G	7: 79,054,936 (GRCm39)		probably benign	Het
Fat1	C	T	8: 45,478,567 (GRCm39)	Q2538*	probably null	Het
Gab1	G	T	8: 81,515,388 (GRCm39)	P310Q	probably damaging	Het
Galnt18	A	G	7: 111,215,699 (GRCm39)		probably benign	Het
Gm28042	C	A	2: 119,869,370 (GRCm39)	P355Q	probably damaging	Het
H2-DMa	A	G	17: 34,357,116 (GRCm39)	T205A	possibly damaging	Het
Hnf4g	A	T	3: 3,718,011 (GRCm39)	D420V	probably benign	Het
Ift70b	T	C	2: 75,767,760 (GRCm39)	K331R	probably benign	Het
Il1b	A	G	2: 129,207,989 (GRCm39)	V164A	probably damaging	Het
Irf4	C	A	13: 30,941,485 (GRCm39)	H279Q	probably benign	Het
Loxhd1	A	G	18: 77,409,364 (GRCm39)	T203A	possibly damaging	Het
Lsamp	C	T	16: 41,775,682 (GRCm39)	P178S	probably damaging	Het
Mcm6	T	C	1: 128,277,155 (GRCm39)	S223G	possibly damaging	Het
Misp	G	T	10: 79,661,777 (GRCm39)	V65L	possibly damaging	Het
Mov10	A	G	3: 104,706,912 (GRCm39)	V666A	probably benign	Het
Mycbp2	A	T	14: 103,485,194 (GRCm39)	D1102E	probably damaging	Het
Myef2	G	T	2: 124,939,860 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,303,216 (GRCm39)	I1079N	probably damaging	Het
Nisch	G	T	14: 30,899,228 (GRCm39)		probably benign	Het
Obox7	T	C	7: 14,399,346 (GRCm39)	S191P	probably benign	Het
Or11h7	T	C	14: 50,891,465 (GRCm39)	V257A	probably benign	Het
Or13p10	A	G	4: 118,523,385 (GRCm39)	I224V	probably damaging	Het
Or14c40	C	T	7: 86,313,331 (GRCm39)	L154F	probably benign	Het
Or1j11	G	A	2: 36,311,658 (GRCm39)	V83M	probably benign	Het
Or5w14	A	T	2: 87,541,422 (GRCm39)	V276D	possibly damaging	Het
Or7d9	A	G	9: 20,197,873 (GRCm39)	R301G	probably damaging	Het
Phf1	T	C	17: 27,156,333 (GRCm39)	S492P	possibly damaging	Het
Phyh	A	T	2: 4,943,164 (GRCm39)	N337I	probably damaging	Het
Poteg	A	T	8: 27,985,060 (GRCm39)		probably benign	Het
Prag1	G	T	8: 36,571,500 (GRCm39)	K694N	probably damaging	Het
Proser2	C	T	2: 6,107,870 (GRCm39)	E49K	probably damaging	Het
Pskh1	T	C	8: 106,656,389 (GRCm39)	V355A	possibly damaging	Het
Psmc2	T	C	5: 22,004,549 (GRCm39)	V182A	possibly damaging	Het
Rbfox1	A	G	16: 7,124,333 (GRCm39)		probably benign	Het
Slc26a7	A	T	4: 14,621,221 (GRCm39)	I55K	possibly damaging	Het
Slc5a8	G	A	10: 88,761,648 (GRCm39)		probably null	Het
Slitrk3	T	C	3: 72,957,672 (GRCm39)	R367G	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata31	A	G	13: 65,068,953 (GRCm39)	E367G	probably benign	Het
Srrm3	A	T	5: 135,863,892 (GRCm39)		probably null	Het
Ssmem1	T	C	6: 30,517,507 (GRCm39)	S6P	probably damaging	Het
Swap70	A	G	7: 109,821,034 (GRCm39)	D6G	probably benign	Het
Syt1	T	C	10: 108,419,776 (GRCm39)	E295G	probably damaging	Het
Tap2	A	T	17: 34,424,927 (GRCm39)	I192F	possibly damaging	Het
Tgoln1	C	T	6: 72,591,068 (GRCm39)	R348H	probably damaging	Het
Tln2	C	T	9: 67,134,389 (GRCm39)	V1373I	possibly damaging	Het
Tmc2	A	G	2: 130,089,854 (GRCm39)	D613G	possibly damaging	Het
Tmem62	T	A	2: 120,837,483 (GRCm39)	Y597N	probably benign	Het
Trhr2	T	A	8: 123,084,185 (GRCm39)	T272S	probably damaging	Het
Vmn2r92	T	C	17: 18,372,198 (GRCm39)	S3P	probably benign	Het
Wdfy3	A	T	5: 102,089,313 (GRCm39)	I627N	probably damaging	Het
Zfhx4	T	C	3: 5,478,076 (GRCm39)	S3564P	probably damaging	Het
Zfp467	T	G	6: 48,416,013 (GRCm39)	E213A	possibly damaging	Het
Zfp746	T	G	6: 48,041,411 (GRCm39)	K437N	probably damaging	Het
Zfp853	A	G	5: 143,274,840 (GRCm39)		probably benign	Het
Zranb1	T	A	7: 132,551,496 (GRCm39)	V49D	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	89,293,121 (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
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

Predicted Primers

PCR Primer
(F):5'- TCCACTATGGCCTTCCCTGACAAAC -3'
(R):5'- ACGTGACTTTGCTGTCCTCCAAGC -3'

Sequencing Primer
(F):5'- TTCAGTCCAGCAGATATCAGTC -3'
(R):5'- GCTGTCCTCCAAGCAGATCTC -3'

Posted On

2014-05-09