Incidental Mutation 'R5605:Catsper2'
ID |
439228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Catsper2
|
Ensembl Gene |
ENSMUSG00000033486 |
Gene Name |
cation channel, sperm associated 2 |
Synonyms |
|
MMRRC Submission |
043270-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R5605 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
121223112-121244273 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 121227533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 546
(R546C)
|
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: R546C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000037222 Gene: ENSMUSG00000033486 AA Change: R546C
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 |
noncoding transcript
Transcript: ENSMUST00000118847
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146521
|
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 |
|
Meta Mutation Damage Score |
0.2307 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (55/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
A |
18: 67,575,425 (GRCm39) |
G83* |
probably null |
Het |
Arap2 |
A |
T |
5: 62,772,410 (GRCm39) |
M1476K |
possibly damaging |
Het |
Ceacam5 |
T |
C |
7: 17,481,161 (GRCm39) |
F303L |
probably benign |
Het |
Clvs1 |
A |
G |
4: 9,281,751 (GRCm39) |
D65G |
probably damaging |
Het |
Coq5 |
T |
C |
5: 115,421,776 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
A |
T |
6: 38,168,699 (GRCm39) |
V950E |
probably damaging |
Het |
Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,837,395 (GRCm39) |
D3936G |
possibly damaging |
Het |
Doc2b |
T |
C |
11: 75,662,786 (GRCm39) |
E404G |
probably damaging |
Het |
Dsg1b |
C |
T |
18: 20,532,596 (GRCm39) |
P547S |
probably benign |
Het |
Eif1ad17 |
T |
A |
12: 87,978,768 (GRCm39) |
C51S |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,532,540 (GRCm39) |
Y356H |
probably damaging |
Het |
Galnt6 |
C |
T |
15: 100,595,106 (GRCm39) |
R465Q |
probably damaging |
Het |
Gbp5 |
T |
C |
3: 142,207,037 (GRCm39) |
S69P |
probably damaging |
Het |
Gdpd4 |
T |
C |
7: 97,655,507 (GRCm39) |
V562A |
probably benign |
Het |
Greb1 |
A |
T |
12: 16,758,727 (GRCm39) |
V663D |
probably damaging |
Het |
Gtf3c3 |
A |
T |
1: 54,455,085 (GRCm39) |
S593T |
probably benign |
Het |
H2-Eb1 |
T |
C |
17: 34,528,807 (GRCm39) |
S113P |
probably benign |
Het |
Herc3 |
C |
T |
6: 58,834,712 (GRCm39) |
R240C |
probably damaging |
Het |
Iqub |
T |
C |
6: 24,505,620 (GRCm39) |
D96G |
probably benign |
Het |
Irag1 |
C |
T |
7: 110,545,209 (GRCm39) |
C29Y |
possibly damaging |
Het |
Kcnt2 |
A |
T |
1: 140,502,481 (GRCm39) |
E858D |
possibly damaging |
Het |
Lcor |
T |
A |
19: 41,571,302 (GRCm39) |
I165N |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,353,643 (GRCm39) |
R539K |
probably damaging |
Het |
Lrrc10 |
C |
A |
10: 116,881,805 (GRCm39) |
P160T |
probably damaging |
Het |
Map3k12 |
G |
T |
15: 102,412,300 (GRCm39) |
D280E |
probably benign |
Het |
Mcub |
T |
C |
3: 129,710,658 (GRCm39) |
E258G |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,765,664 (GRCm39) |
S5208P |
probably benign |
Het |
Med20 |
C |
A |
17: 47,934,069 (GRCm39) |
|
probably benign |
Het |
Mertk |
T |
C |
2: 128,580,227 (GRCm39) |
V227A |
probably benign |
Het |
Ncstn |
A |
G |
1: 171,908,717 (GRCm39) |
|
probably benign |
Het |
Nedd4l |
T |
C |
18: 65,307,315 (GRCm39) |
|
probably null |
Het |
Nfyc |
A |
G |
4: 120,647,686 (GRCm39) |
|
probably benign |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Nt5dc1 |
C |
T |
10: 34,279,691 (GRCm39) |
C117Y |
probably benign |
Het |
Nup88 |
A |
T |
11: 70,834,896 (GRCm39) |
|
probably benign |
Het |
Or6z7 |
C |
T |
7: 6,483,325 (GRCm39) |
V277M |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,757,949 (GRCm39) |
I193K |
probably benign |
Het |
Pcsk2 |
T |
C |
2: 143,591,165 (GRCm39) |
|
probably benign |
Het |
Pdzd2 |
A |
T |
15: 12,592,436 (GRCm39) |
C69* |
probably null |
Het |
Polr1e |
A |
G |
4: 45,018,723 (GRCm39) |
T18A |
probably benign |
Het |
Prima1 |
T |
A |
12: 103,166,163 (GRCm39) |
I124F |
probably benign |
Het |
Rbm34 |
T |
C |
8: 127,676,169 (GRCm39) |
K382R |
probably benign |
Het |
Rftn1 |
T |
G |
17: 50,354,435 (GRCm39) |
N309T |
probably damaging |
Het |
Septin1 |
C |
T |
7: 126,814,598 (GRCm39) |
D260N |
probably damaging |
Het |
Serpina3g |
T |
C |
12: 104,207,299 (GRCm39) |
V154A |
probably damaging |
Het |
Spef2 |
A |
T |
15: 9,609,606 (GRCm39) |
N1306K |
probably damaging |
Het |
Stk4 |
T |
C |
2: 163,921,486 (GRCm39) |
F29S |
probably damaging |
Het |
Stxbp5 |
A |
G |
10: 9,645,490 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,919,733 (GRCm39) |
T774A |
probably benign |
Het |
Tinag |
A |
G |
9: 76,952,694 (GRCm39) |
Y97H |
probably damaging |
Het |
Tpm1 |
T |
C |
9: 66,956,317 (GRCm39) |
E33G |
probably damaging |
Het |
Usp17lb |
T |
C |
7: 104,489,847 (GRCm39) |
E359G |
probably benign |
Het |
Vmn2r91 |
A |
G |
17: 18,356,763 (GRCm39) |
E810G |
probably damaging |
Het |
Vwce |
A |
T |
19: 10,635,402 (GRCm39) |
T633S |
possibly damaging |
Het |
Ylpm1 |
G |
A |
12: 85,075,627 (GRCm39) |
R326H |
probably damaging |
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 |
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 |
|
R9708:Catsper2
|
UTSW |
2 |
121,237,321 (GRCm39) |
missense |
possibly damaging |
0.46 |
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'- ATTGAGACAGAGATGCTACGTC -3'
(R):5'- TGCTGCAAATTCTGGCAGTG -3'
Sequencing Primer
(F):5'- GAGACAGAGATGCTACGTCCTTATAC -3'
(R):5'- TCTGTAGACTTACACTGTAGCCCAAG -3'
|
Posted On |
2016-10-26 |