Incidental Mutation 'R9708:Catsper2'
| ID |
729880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsper2
|
| Ensembl Gene |
ENSMUSG00000033486 |
| Gene Name |
cation channel, sperm associated 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R9708 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121223112-121244273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121237321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 193
(V193A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038073]
[ENSMUST00000154604]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038073
AA Change: V193A
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037222
Gene: ENSMUSG00000033486
AA Change: V193A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
105 |
350 |
1e-35 |
PFAM |
|
low complexity region
|
422 |
447 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
450 |
473 |
3.72e-11 |
PROSPERO |
|
internal_repeat_1
|
465 |
488 |
3.72e-11 |
PROSPERO |
|
low complexity region
|
491 |
502 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154604
|
| SMART Domains |
Protein: ENSMUSP00000119091
Gene: ENSMUSG00000033486
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null male mice are infertile due to a sperm motility defect. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,254,417 (GRCm39) |
N576I |
probably damaging |
Het |
| Acss1 |
G |
T |
2: 150,471,752 (GRCm39) |
T334K |
probably damaging |
Het |
| Alox5 |
A |
G |
6: 116,392,537 (GRCm39) |
L328P |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,839,744 (GRCm39) |
M407K |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 31,051,075 (GRCm39) |
I471F |
probably benign |
Het |
| Asph |
G |
A |
4: 9,542,233 (GRCm39) |
R335W |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,657 (GRCm39) |
E415G |
probably benign |
Het |
| Btn2a2 |
G |
A |
13: 23,662,907 (GRCm39) |
P348S |
possibly damaging |
Het |
| Ccdc112 |
G |
A |
18: 46,444,780 (GRCm39) |
A33V |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,860,619 (GRCm39) |
Y669F |
probably damaging |
Het |
| D030056L22Rik |
T |
G |
19: 18,690,776 (GRCm39) |
L30R |
possibly damaging |
Het |
| Fanca |
C |
A |
8: 124,001,263 (GRCm39) |
G1091* |
probably null |
Het |
| Foxl1 |
A |
G |
8: 121,855,077 (GRCm39) |
D126G |
possibly damaging |
Het |
| Gba1 |
T |
C |
3: 89,112,801 (GRCm39) |
S148P |
probably damaging |
Het |
| Gem |
G |
A |
4: 11,711,154 (GRCm39) |
R115H |
possibly damaging |
Het |
| Gm4924 |
T |
G |
10: 82,214,992 (GRCm39) |
L930R |
unknown |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Irx5 |
A |
T |
8: 93,087,118 (GRCm39) |
D350V |
probably benign |
Het |
| Kng2 |
G |
T |
16: 22,815,801 (GRCm39) |
P365Q |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,342,076 (GRCm39) |
E1896D |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,634,482 (GRCm39) |
Y1415* |
probably null |
Het |
| Map2k7 |
C |
A |
8: 4,295,806 (GRCm39) |
H429N |
probably benign |
Het |
| Mogat1 |
T |
A |
1: 78,488,633 (GRCm39) |
L12Q |
probably damaging |
Het |
| Mov10 |
C |
T |
3: 104,704,613 (GRCm39) |
R766H |
probably benign |
Het |
| Mthfr |
G |
T |
4: 148,128,978 (GRCm39) |
E225* |
probably null |
Het |
| Mtmr11 |
T |
C |
3: 96,076,403 (GRCm39) |
F453L |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,087 (GRCm39) |
N650D |
probably damaging |
Het |
| Nek3 |
C |
T |
8: 22,618,742 (GRCm39) |
G497R |
unknown |
Het |
| Nol4 |
G |
T |
18: 22,828,053 (GRCm39) |
A337E |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,581,882 (GRCm39) |
T1606A |
probably benign |
Het |
| Odad2 |
G |
T |
18: 7,288,633 (GRCm39) |
T78K |
probably benign |
Het |
| Or2ab1 |
G |
A |
11: 58,488,927 (GRCm39) |
R229H |
probably benign |
Het |
| Or4a71 |
T |
C |
2: 89,358,214 (GRCm39) |
N180S |
probably benign |
Het |
| Or5b124 |
G |
A |
19: 13,610,760 (GRCm39) |
C95Y |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,631,259 (GRCm39) |
Y97C |
probably benign |
Het |
| Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
| Pcdha8 |
A |
G |
18: 37,125,548 (GRCm39) |
D10G |
probably benign |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,783,119 (GRCm39) |
S972A |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,606,865 (GRCm39) |
M304K |
probably benign |
Het |
| Rnf144b |
A |
G |
13: 47,397,912 (GRCm39) |
I281V |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,770,197 (GRCm39) |
G509E |
possibly damaging |
Het |
| Sap30l |
A |
G |
11: 57,696,936 (GRCm39) |
R89G |
probably damaging |
Het |
| Scrn2 |
C |
T |
11: 96,922,928 (GRCm39) |
R124W |
probably damaging |
Het |
| Shcbp1l |
A |
T |
1: 153,328,011 (GRCm39) |
N574I |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,267 (GRCm39) |
I791V |
probably benign |
Het |
| Stard13 |
C |
T |
5: 150,986,961 (GRCm39) |
S183N |
possibly damaging |
Het |
| Tent5a |
A |
G |
9: 85,207,267 (GRCm39) |
M177T |
possibly damaging |
Het |
| Tpbg |
A |
G |
9: 85,726,574 (GRCm39) |
N181S |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,654,664 (GRCm39) |
V381D |
possibly damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,629,357 (GRCm39) |
D735G |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,322,007 (GRCm39) |
D230V |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,634,053 (GRCm39) |
V2116E |
|
Het |
| Zfp616 |
G |
A |
11: 73,976,283 (GRCm39) |
G851S |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,584,600 (GRCm39) |
E623* |
probably null |
Het |
|
| Other mutations in Catsper2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00649:Catsper2
|
APN |
2 |
121,228,373 (GRCm39) |
splice site |
probably benign |
|
|
IGL01830:Catsper2
|
APN |
2 |
121,237,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03243:Catsper2
|
APN |
2 |
121,237,300 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03247:Catsper2
|
APN |
2 |
121,240,681 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03342:Catsper2
|
APN |
2 |
121,237,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4304:Catsper2
|
UTSW |
2 |
121,228,263 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4304:Catsper2
|
UTSW |
2 |
121,228,023 (GRCm39) |
nonsense |
probably null |
|
|
FR4342:Catsper2
|
UTSW |
2 |
121,228,274 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4589:Catsper2
|
UTSW |
2 |
121,228,260 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4737:Catsper2
|
UTSW |
2 |
121,228,021 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4976:Catsper2
|
UTSW |
2 |
121,228,263 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4976:Catsper2
|
UTSW |
2 |
121,228,260 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4976:Catsper2
|
UTSW |
2 |
121,228,023 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4976:Catsper2
|
UTSW |
2 |
121,228,276 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1463:Catsper2
|
UTSW |
2 |
121,236,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Catsper2
|
UTSW |
2 |
121,230,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2006:Catsper2
|
UTSW |
2 |
121,236,838 (GRCm39) |
nonsense |
probably null |
|
|
R2163:Catsper2
|
UTSW |
2 |
121,230,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4543:Catsper2
|
UTSW |
2 |
121,237,890 (GRCm39) |
nonsense |
probably null |
|
|
R4888:Catsper2
|
UTSW |
2 |
121,227,604 (GRCm39) |
splice site |
probably null |
|
|
R5121:Catsper2
|
UTSW |
2 |
121,227,604 (GRCm39) |
splice site |
probably null |
|
|
R5323:Catsper2
|
UTSW |
2 |
121,237,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5518:Catsper2
|
UTSW |
2 |
121,236,844 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5605:Catsper2
|
UTSW |
2 |
121,227,533 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6521:Catsper2
|
UTSW |
2 |
121,237,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6531:Catsper2
|
UTSW |
2 |
121,230,261 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7055:Catsper2
|
UTSW |
2 |
121,228,053 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7138:Catsper2
|
UTSW |
2 |
121,227,544 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7240:Catsper2
|
UTSW |
2 |
121,228,053 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7247:Catsper2
|
UTSW |
2 |
121,228,053 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7686:Catsper2
|
UTSW |
2 |
121,227,937 (GRCm39) |
splice site |
probably null |
|
|
R8385:Catsper2
|
UTSW |
2 |
121,240,621 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8426:Catsper2
|
UTSW |
2 |
121,228,053 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9086:Catsper2
|
UTSW |
2 |
121,228,053 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9584:Catsper2
|
UTSW |
2 |
121,230,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9616:Catsper2
|
UTSW |
2 |
121,228,053 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9646:Catsper2
|
UTSW |
2 |
121,228,053 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF028:Catsper2
|
UTSW |
2 |
121,228,207 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Z1176:Catsper2
|
UTSW |
2 |
121,237,866 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACCTTTCATGACCGTATTTGAC -3'
(R):5'- TGTCATTAGGAACATCAACCCC -3'
Sequencing Primer
(F):5'- AAACCCATCTTTCTAAATTGCCC -3'
(R):5'- CTGCCAGTTACTGAACATTAAATGCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation