Incidental Mutation 'R6050:Catspere2'
| ID |
483485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catspere2
|
| Ensembl Gene |
ENSMUSG00000091476 |
| Gene Name |
cation channel sperm associated auxiliary subunit epsilon 2 |
| Synonyms |
EG545391, Gm16432, Gm30473 |
| MMRRC Submission |
044218-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
177810989-178000271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 177931490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 470
(A470T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000192146]
|
| AlphaFold |
A0A0A6YXX9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191719
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000192146
AA Change: A470T
|
| SMART Domains |
Protein: ENSMUSP00000142187
Gene: ENSMUSG00000091476
AA Change: A470T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:CATSPERD
|
207 |
774 |
1.7e-200 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,793,202 (GRCm39) |
D1481G |
possibly damaging |
Het |
| Ak9 |
A |
G |
10: 41,265,108 (GRCm39) |
E955G |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,219,814 (GRCm39) |
F1138S |
possibly damaging |
Het |
| Bbs2 |
T |
A |
8: 94,819,160 (GRCm39) |
N70Y |
probably damaging |
Het |
| BC048679 |
T |
C |
7: 81,145,339 (GRCm39) |
I70V |
possibly damaging |
Het |
| Ccdc141 |
G |
T |
2: 76,842,075 (GRCm39) |
A1452E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,814,812 (GRCm39) |
D1883G |
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,511,397 (GRCm39) |
I280M |
possibly damaging |
Het |
| Cmtr1 |
G |
T |
17: 29,901,108 (GRCm39) |
K678N |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,793,530 (GRCm39) |
D329G |
possibly damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,149,956 (GRCm39) |
P116S |
probably benign |
Het |
| Fcf1 |
G |
A |
12: 85,029,017 (GRCm39) |
C154Y |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,560,433 (GRCm39) |
N1358S |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gtf3c3 |
T |
C |
1: 54,445,229 (GRCm39) |
I608M |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,526,158 (GRCm39) |
D210N |
possibly damaging |
Het |
| Ift140 |
C |
T |
17: 25,309,979 (GRCm39) |
R1129C |
probably damaging |
Het |
| Lias |
A |
G |
5: 65,551,315 (GRCm39) |
I83V |
possibly damaging |
Het |
| Mlh3 |
T |
C |
12: 85,287,620 (GRCm39) |
T1342A |
possibly damaging |
Het |
| Mn1 |
A |
G |
5: 111,567,263 (GRCm39) |
Y411C |
probably damaging |
Het |
| Mrps21 |
C |
T |
3: 95,770,200 (GRCm39) |
R43H |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,240,054 (GRCm39) |
Q172* |
probably null |
Het |
| Notch3 |
T |
C |
17: 32,362,501 (GRCm39) |
T1375A |
probably benign |
Het |
| Oga |
A |
C |
19: 45,753,919 (GRCm39) |
S652A |
possibly damaging |
Het |
| Ovol3 |
T |
A |
7: 29,933,819 (GRCm39) |
Y101F |
probably benign |
Het |
| Pcbp4 |
T |
C |
9: 106,339,422 (GRCm39) |
V45A |
probably benign |
Het |
| Plec |
T |
C |
15: 76,072,458 (GRCm39) |
E709G |
probably damaging |
Het |
| Prcc |
G |
A |
3: 87,777,191 (GRCm39) |
T261I |
probably damaging |
Het |
| Psg25 |
A |
G |
7: 18,260,403 (GRCm39) |
V165A |
probably benign |
Het |
| Rfk |
C |
T |
19: 17,376,896 (GRCm39) |
P133S |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,218,383 (GRCm39) |
T251M |
unknown |
Het |
| Sec14l2 |
T |
C |
11: 4,061,477 (GRCm39) |
D67G |
probably benign |
Het |
| Smtnl1 |
A |
G |
2: 84,641,797 (GRCm39) |
I441T |
probably damaging |
Het |
| Tbce |
C |
T |
13: 14,173,019 (GRCm39) |
V471I |
possibly damaging |
Het |
| Tnip1 |
G |
A |
11: 54,808,703 (GRCm39) |
R495C |
probably damaging |
Het |
| Trbv19 |
A |
G |
6: 41,155,944 (GRCm39) |
K105R |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,010,744 (GRCm39) |
N229I |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,689,521 (GRCm39) |
F5028L |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,691 (GRCm39) |
S673P |
probably damaging |
Het |
| Zfp780b |
A |
T |
7: 27,663,727 (GRCm39) |
I276N |
probably damaging |
Het |
|
| Other mutations in Catspere2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01925:Catspere2
|
APN |
1 |
177,842,687 (GRCm39) |
splice site |
probably benign |
|
|
IGL02345:Catspere2
|
APN |
1 |
177,842,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0089:Catspere2
|
UTSW |
1 |
177,874,555 (GRCm39) |
missense |
unknown |
|
|
R0103:Catspere2
|
UTSW |
1 |
177,943,771 (GRCm39) |
missense |
unknown |
|
|
R1491:Catspere2
|
UTSW |
1 |
177,843,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1662:Catspere2
|
UTSW |
1 |
177,874,552 (GRCm39) |
missense |
unknown |
|
|
R1840:Catspere2
|
UTSW |
1 |
177,830,581 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2168:Catspere2
|
UTSW |
1 |
177,843,477 (GRCm39) |
splice site |
probably benign |
|
|
R3764:Catspere2
|
UTSW |
1 |
177,940,698 (GRCm39) |
missense |
unknown |
|
|
R4586:Catspere2
|
UTSW |
1 |
177,950,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4887:Catspere2
|
UTSW |
1 |
177,931,515 (GRCm39) |
missense |
unknown |
|
|
R4990:Catspere2
|
UTSW |
1 |
177,925,987 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4991:Catspere2
|
UTSW |
1 |
177,925,987 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5225:Catspere2
|
UTSW |
1 |
177,976,474 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5285:Catspere2
|
UTSW |
1 |
177,931,454 (GRCm39) |
missense |
unknown |
|
|
R5569:Catspere2
|
UTSW |
1 |
177,939,162 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5743:Catspere2
|
UTSW |
1 |
177,950,328 (GRCm39) |
splice site |
silent |
|
|
R5756:Catspere2
|
UTSW |
1 |
177,943,793 (GRCm39) |
missense |
unknown |
|
|
R6166:Catspere2
|
UTSW |
1 |
177,931,403 (GRCm39) |
missense |
unknown |
|
|
R6200:Catspere2
|
UTSW |
1 |
177,939,124 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6322:Catspere2
|
UTSW |
1 |
177,845,296 (GRCm39) |
nonsense |
probably null |
|
|
R6438:Catspere2
|
UTSW |
1 |
177,938,869 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6736:Catspere2
|
UTSW |
1 |
177,845,278 (GRCm39) |
nonsense |
probably null |
|
|
R6879:Catspere2
|
UTSW |
1 |
177,926,338 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6897:Catspere2
|
UTSW |
1 |
177,939,139 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7030:Catspere2
|
UTSW |
1 |
177,845,280 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7335:Catspere2
|
UTSW |
1 |
177,926,074 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7509:Catspere2
|
UTSW |
1 |
177,905,078 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7896:Catspere2
|
UTSW |
1 |
177,938,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7980:Catspere2
|
UTSW |
1 |
177,830,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8079:Catspere2
|
UTSW |
1 |
177,874,525 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8355:Catspere2
|
UTSW |
1 |
177,845,276 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8360:Catspere2
|
UTSW |
1 |
177,842,724 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8786:Catspere2
|
UTSW |
1 |
177,843,555 (GRCm39) |
splice site |
probably benign |
|
|
R8786:Catspere2
|
UTSW |
1 |
177,843,362 (GRCm39) |
intron |
probably benign |
|
|
R8810:Catspere2
|
UTSW |
1 |
177,905,048 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9170:Catspere2
|
UTSW |
1 |
177,967,949 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9252:Catspere2
|
UTSW |
1 |
177,938,996 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9442:Catspere2
|
UTSW |
1 |
177,931,275 (GRCm39) |
missense |
unknown |
|
|
Z1177:Catspere2
|
UTSW |
1 |
177,984,368 (GRCm39) |
critical splice donor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGATTCACAACTACTTCACGGC -3'
(R):5'- ACCTGTAAGGACTTGGTGGATG -3'
Sequencing Primer
(F):5'- CGGCTAAAATATCTTCTAAAGCTCC -3'
(R):5'- ATGTTGCTGCCCTGTGATAAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation