Incidental Mutation 'IGL03243:Catsper2'
| ID |
414317 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Catsper2
|
| Ensembl Gene |
ENSMUSG00000033486 |
| Gene Name |
cation channel, sperm associated 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
IGL03243
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121223112-121244273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121237300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 200
(H200R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038073]
[ENSMUST00000154604]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038073
AA Change: H200R
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000037222
Gene: ENSMUSG00000033486
AA Change: H200R
| 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: ENSMUST00000118670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123982
|
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
C |
8: 44,021,733 (GRCm39) |
T586A |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,369,959 (GRCm39) |
T216A |
probably benign |
Het |
| Ankdd1a |
T |
C |
9: 65,408,752 (GRCm39) |
R505G |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,976,551 (GRCm39) |
|
probably benign |
Het |
| Atp6v1c2 |
C |
T |
12: 17,339,122 (GRCm39) |
V210I |
probably benign |
Het |
| BC034090 |
G |
A |
1: 155,101,401 (GRCm39) |
P288S |
possibly damaging |
Het |
| Ceacam23 |
A |
T |
7: 17,652,574 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap5c |
G |
T |
17: 58,409,171 (GRCm39) |
A470S |
probably benign |
Het |
| Fcho2 |
G |
A |
13: 98,913,892 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
C |
4: 82,932,206 (GRCm39) |
L165R |
probably damaging |
Het |
| Gpn1 |
G |
A |
5: 31,668,175 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,242,301 (GRCm39) |
N181S |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,070,509 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,400,238 (GRCm39) |
N333S |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,680,159 (GRCm39) |
T442A |
probably benign |
Het |
| Myo15a |
G |
T |
11: 60,387,344 (GRCm39) |
L722F |
probably damaging |
Het |
| Nlrp9c |
T |
G |
7: 26,064,457 (GRCm39) |
D957A |
probably damaging |
Het |
| Nup58 |
T |
A |
14: 60,459,065 (GRCm39) |
T521S |
probably benign |
Het |
| Or7e165 |
T |
G |
9: 19,694,564 (GRCm39) |
I45S |
probably damaging |
Het |
| Plek |
C |
A |
11: 16,945,319 (GRCm39) |
V4L |
possibly damaging |
Het |
| Sell |
T |
A |
1: 163,892,911 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,533 (GRCm39) |
I702K |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,133,387 (GRCm39) |
I573V |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,943,364 (GRCm39) |
I526F |
probably damaging |
Het |
| Tmem30c |
A |
T |
16: 57,096,513 (GRCm39) |
S203T |
probably benign |
Het |
| Tox |
T |
C |
4: 6,697,597 (GRCm39) |
N402S |
possibly damaging |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,555 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
T |
11: 115,958,670 (GRCm39) |
V784D |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,882,963 (GRCm39) |
V263A |
possibly damaging |
Het |
| Zfp385c |
A |
T |
11: 100,525,573 (GRCm39) |
V56D |
probably damaging |
Het |
| Znrf2 |
A |
T |
6: 54,861,754 (GRCm39) |
I222L |
possibly 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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation