Incidental Mutation 'RF028:Catsper2'
| ID |
604216 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF028 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121223112-121244273 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
ATCGCTTTCCTCGTTTTCG to ATCG
at 121228207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038073]
[ENSMUST00000154604]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038073
|
| SMART Domains |
Protein: ENSMUSP00000037222
Gene: ENSMUSG00000033486
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
GCTGTG |
GCTGTGCCTCCTGTG |
1: 82,891,299 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCCGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
TGCATCCTGGGCTGC |
TGCATCCTGGGCTGCAGCATCCTGGGCTGC |
4: 155,989,548 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
C |
CGGG |
17: 5,045,873 (GRCm39) |
|
probably benign |
Het |
| Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,653 (GRCm39) |
|
probably null |
Het |
| Boc |
GAC |
G |
16: 44,316,796 (GRCm39) |
|
probably null |
Het |
| Cacna1f |
GAG |
GAGAAG |
X: 7,486,299 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGAAG |
X: 7,486,302 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
| E4f1 |
CGC |
CGCGGC |
17: 24,674,164 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
TCGCTC |
TCGCTCGCTC |
6: 137,494,061 (GRCm39) |
|
probably benign |
Het |
| Ermn |
AACT |
AACTACT |
2: 57,938,078 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
| Gab3 |
CTTCTT |
CTTATTCTT |
X: 74,043,606 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,623 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CTC |
CTCTGGGTC |
X: 71,314,369 (GRCm39) |
|
probably benign |
Het |
| Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TG |
TGGGTGAG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
CAGCTGCAG |
CAGCTGCAGCAGCAGCCATAGCTGCAG |
4: 59,610,650 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
TTTTCCTTTT |
TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT |
9: 106,447,813 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTATT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
CTCCTCCT |
C |
9: 21,192,367 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GTTGCTGCCACTG |
GTTGCTGCCACTGTTGCTGCCACTG |
3: 92,925,438 (GRCm39) |
|
probably benign |
Het |
| Loricrin |
CGCCGCCT |
C |
3: 91,989,206 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
A |
AGGTGGCCTCTTCAGG |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CCAACA |
CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGGAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,012 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
AGAT |
AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT |
2: 119,458,059 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAGTGAGGAGCAAGCTGAGA |
CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA |
2: 119,458,072 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
CCCCCC |
CCCCCCGCCCCC |
2: 156,146,543 (GRCm39) |
|
probably benign |
Het |
| Ppp1r8 |
TCTCTCTCAC |
TC |
4: 132,557,926 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG |
CGG |
2: 155,938,050 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
GA |
GAGTA |
14: 52,386,855 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
AGCGATCCTCCCCAGTCCCGCAAGGCC |
AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC |
5: 77,164,248 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TTGTCTTGTCAGAATCACCTCCTGG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,139 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CAGGACT |
CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
AACAGCAGC |
AACAGCAGCTACAGCAGC |
8: 109,682,728 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
TT |
TTTGCCT |
4: 147,910,188 (GRCm39) |
|
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 |
|
|
R9708:Catsper2
|
UTSW |
2 |
121,237,321 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Z1176:Catsper2
|
UTSW |
2 |
121,237,866 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGGAAAGCAGTATCGGCTG -3'
(R):5'- ATGTACAGAGGGACCAGTCTTG -3'
Sequencing Primer
(F):5'- CAGTATCGGCTGCAGTGGAG -3'
(R):5'- CAGTCTTGGAAAGGTCTCCG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation