Incidental Mutation 'IGL01830:Catsper2'
ID |
154772 |
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 # |
IGL01830
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
121223112-121244273 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121237843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 179
(D179G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037222
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038073]
[ENSMUST00000154604]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038073
AA Change: D179G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037222 Gene: ENSMUSG00000033486 AA Change: D179G
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
C |
A |
16: 22,717,779 (GRCm39) |
P252Q |
probably damaging |
Het |
Anks4b |
T |
A |
7: 119,773,219 (GRCm39) |
N26K |
probably damaging |
Het |
Arrdc5 |
C |
T |
17: 56,601,652 (GRCm39) |
V158I |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,672,603 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
T |
A |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
Cep57l1 |
C |
T |
10: 41,604,649 (GRCm39) |
C160Y |
probably benign |
Het |
Chek2 |
T |
A |
5: 111,021,374 (GRCm39) |
L528Q |
probably benign |
Het |
Ciita |
T |
C |
16: 10,338,915 (GRCm39) |
L973P |
probably damaging |
Het |
Dock2 |
A |
T |
11: 34,582,744 (GRCm39) |
L637* |
probably null |
Het |
Fsip2 |
A |
C |
2: 82,815,273 (GRCm39) |
I3669L |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,578,968 (GRCm39) |
V1218A |
probably benign |
Het |
Gip |
T |
C |
11: 95,919,550 (GRCm39) |
L91S |
possibly damaging |
Het |
Gp2 |
T |
C |
7: 119,050,765 (GRCm39) |
D322G |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,442,636 (GRCm39) |
V177A |
probably damaging |
Het |
Kng2 |
T |
C |
16: 22,806,801 (GRCm39) |
D466G |
probably damaging |
Het |
Lpar5 |
G |
A |
6: 125,058,785 (GRCm39) |
A169T |
probably benign |
Het |
Med13 |
C |
T |
11: 86,179,754 (GRCm39) |
|
probably benign |
Het |
Meiob |
T |
A |
17: 25,054,105 (GRCm39) |
C391S |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,339,869 (GRCm39) |
T417A |
probably damaging |
Het |
Myo1b |
A |
T |
1: 51,836,624 (GRCm39) |
L279* |
probably null |
Het |
Myo1g |
T |
A |
11: 6,464,522 (GRCm39) |
K513* |
probably null |
Het |
Nxpe2 |
A |
T |
9: 48,237,794 (GRCm39) |
S154T |
probably damaging |
Het |
Ogn |
C |
T |
13: 49,762,723 (GRCm39) |
Q22* |
probably null |
Het |
Or4c12 |
A |
G |
2: 89,773,775 (GRCm39) |
L228S |
probably benign |
Het |
Pacs2 |
A |
T |
12: 113,020,574 (GRCm39) |
K316* |
probably null |
Het |
Pelo |
T |
A |
13: 115,225,131 (GRCm39) |
I365F |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,853,148 (GRCm39) |
Q1021* |
probably null |
Het |
Pik3r4 |
A |
G |
9: 105,522,154 (GRCm39) |
D240G |
probably damaging |
Het |
Pknox1 |
T |
C |
17: 31,814,284 (GRCm39) |
M203T |
probably benign |
Het |
Pld1 |
T |
C |
3: 28,102,153 (GRCm39) |
|
probably benign |
Het |
Rabgef1 |
G |
T |
5: 130,240,907 (GRCm39) |
C342F |
possibly damaging |
Het |
Rbm19 |
A |
C |
5: 120,262,760 (GRCm39) |
K307T |
possibly damaging |
Het |
Sdcbp2 |
T |
A |
2: 151,431,494 (GRCm39) |
I289N |
probably damaging |
Het |
Slc5a12 |
G |
A |
2: 110,428,151 (GRCm39) |
G69R |
probably damaging |
Het |
Spag1 |
C |
A |
15: 36,221,705 (GRCm39) |
S599R |
probably benign |
Het |
Ubr4 |
A |
T |
4: 139,199,811 (GRCm39) |
D4565V |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
Vmn1r225 |
T |
C |
17: 20,722,717 (GRCm39) |
S53P |
probably damaging |
Het |
Xrcc1 |
T |
A |
7: 24,272,767 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
2014-02-04 |