Incidental Mutation 'R5478:Fshr'
| ID |
434190 |
| 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 |
043039-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
89292380-89508103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89309143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 222
(V222I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035701]
|
| AlphaFold |
P35378 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035701
AA Change: V222I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040477
Gene: ENSMUSG00000032937
AA Change: V222I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (63/64) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,827,904 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,683,478 (GRCm39) |
V920A |
possibly damaging |
Het |
| Alpk1 |
A |
G |
3: 127,471,368 (GRCm39) |
V1038A |
probably damaging |
Het |
| Amotl1 |
A |
G |
9: 14,504,048 (GRCm39) |
|
probably null |
Het |
| Apba2 |
T |
A |
7: 64,344,934 (GRCm39) |
Y41* |
probably null |
Het |
| BC048562 |
G |
A |
9: 108,322,363 (GRCm39) |
|
probably benign |
Het |
| Braf |
A |
G |
6: 39,654,508 (GRCm39) |
L86P |
possibly damaging |
Het |
| Capn3 |
A |
G |
2: 120,294,666 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
T |
C |
13: 24,296,028 (GRCm39) |
D371G |
probably damaging |
Het |
| Cdhr4 |
G |
A |
9: 107,872,790 (GRCm39) |
V280I |
possibly damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,187,108 (GRCm39) |
K53* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,660,182 (GRCm39) |
E353D |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,448,697 (GRCm39) |
N72K |
probably benign |
Het |
| Comtd1 |
A |
T |
14: 21,898,981 (GRCm39) |
|
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,685,543 (GRCm39) |
S290T |
probably benign |
Het |
| Defa35 |
A |
T |
8: 21,555,836 (GRCm39) |
Y65F |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,057,186 (GRCm39) |
C198S |
probably benign |
Het |
| Epha3 |
A |
C |
16: 63,403,896 (GRCm39) |
M734R |
probably damaging |
Het |
| Fastkd2 |
T |
C |
1: 63,778,345 (GRCm39) |
I406T |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,714 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,885 (GRCm39) |
E279G |
probably benign |
Het |
| Gm5709 |
A |
T |
3: 59,543,095 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3a |
C |
A |
4: 49,792,481 (GRCm39) |
M417I |
probably benign |
Het |
| Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
| Idh1 |
A |
T |
1: 65,200,997 (GRCm39) |
M318K |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,125,774 (GRCm39) |
S286P |
probably damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,118,539 (GRCm39) |
T142S |
probably benign |
Het |
| Myocd |
G |
T |
11: 65,123,914 (GRCm39) |
|
probably null |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Or52ab7 |
T |
C |
7: 102,978,032 (GRCm39) |
L113P |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,425 (GRCm39) |
I126L |
possibly damaging |
Het |
| Pcdhgc4 |
C |
T |
18: 37,950,375 (GRCm39) |
T597M |
probably damaging |
Het |
| Pdrg1 |
A |
G |
2: 152,857,152 (GRCm39) |
|
probably benign |
Het |
| Per2 |
T |
A |
1: 91,360,590 (GRCm39) |
I521F |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,271,380 (GRCm39) |
L3058F |
probably damaging |
Het |
| Plaat5 |
A |
C |
19: 7,592,036 (GRCm39) |
|
probably benign |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,423 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
| Prpf18 |
A |
T |
2: 4,643,705 (GRCm39) |
N155K |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,478,795 (GRCm39) |
N472K |
possibly damaging |
Het |
| Reln |
A |
T |
5: 22,209,201 (GRCm39) |
S1126T |
probably benign |
Het |
| Rnase11 |
A |
G |
14: 51,287,332 (GRCm39) |
L74P |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,780 (GRCm39) |
I324F |
probably damaging |
Het |
| Slc26a10 |
C |
A |
10: 127,009,818 (GRCm39) |
R576L |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,241,140 (GRCm39) |
E921D |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,374,609 (GRCm39) |
M296L |
probably damaging |
Het |
| Sos1 |
T |
C |
17: 80,741,276 (GRCm39) |
D503G |
probably damaging |
Het |
| Srpk2 |
G |
A |
5: 23,729,181 (GRCm39) |
T486I |
possibly damaging |
Het |
| Sult6b1 |
A |
T |
17: 79,202,101 (GRCm39) |
|
probably null |
Het |
| Tbc1d16 |
T |
C |
11: 119,045,917 (GRCm39) |
E509G |
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,966,050 (GRCm39) |
V536A |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,237,341 (GRCm39) |
V188D |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,996 (GRCm39) |
I542N |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,894,120 (GRCm39) |
P480S |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,052,193 (GRCm39) |
|
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 |
|
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 |
|
|
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'- CTCACCAGTGTATAGAAAGTCATTC -3'
(R):5'- TGCATTCAACGGAACCCAGC -3'
Sequencing Primer
(F):5'- GAAAGTCATTCTGTACACCGAC -3'
(R):5'- GAACTGTAAGTAGTCCTGACTGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation