Incidental Mutation 'R8360:Catspere2'
| ID |
652124 |
| 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 |
067734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R8360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
177810989-178000271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 177842724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 50
(V50M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094273]
[ENSMUST00000192146]
|
| AlphaFold |
A0A0A6YXX9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094273
AA Change: V50M
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091828
Gene: ENSMUSG00000091476
AA Change: V50M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192146
AA Change: V50M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142187
Gene: ENSMUSG00000091476
AA Change: V50M
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
96% (43/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
C |
T |
19: 21,655,888 (GRCm39) |
Q57* |
probably null |
Het |
| Acad8 |
C |
T |
9: 26,890,352 (GRCm39) |
A288T |
possibly damaging |
Het |
| Adamtsl3 |
G |
A |
7: 82,197,187 (GRCm39) |
C711Y |
probably damaging |
Het |
| Ahcyl2 |
C |
A |
6: 29,768,869 (GRCm39) |
D111E |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,649,174 (GRCm39) |
F388L |
probably benign |
Het |
| Bcr |
T |
A |
10: 74,981,271 (GRCm39) |
S697T |
probably damaging |
Het |
| Dgka |
C |
A |
10: 128,563,997 (GRCm39) |
V451F |
probably damaging |
Het |
| Dnajc2 |
A |
T |
5: 21,962,705 (GRCm39) |
C617S |
unknown |
Het |
| Erich3 |
C |
A |
3: 154,469,991 (GRCm39) |
T1481K |
unknown |
Het |
| Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,874,059 (GRCm39) |
D396E |
probably benign |
Het |
| Hmgcs2 |
A |
T |
3: 98,204,724 (GRCm39) |
D294V |
possibly damaging |
Het |
| Hnf1a |
A |
G |
5: 115,091,391 (GRCm39) |
V434A |
possibly damaging |
Het |
| Il4ra |
T |
C |
7: 125,169,138 (GRCm39) |
L130P |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,449,767 (GRCm39) |
K672E |
probably damaging |
Het |
| Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,938 (GRCm39) |
S1345P |
probably benign |
Het |
| Lrrc28 |
A |
T |
7: 67,290,909 (GRCm39) |
D37E |
probably benign |
Het |
| Mlx |
G |
T |
11: 100,978,140 (GRCm39) |
|
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,436,554 (GRCm39) |
H7878R |
probably benign |
Het |
| Mybpc1 |
C |
A |
10: 88,409,359 (GRCm39) |
E32* |
probably null |
Het |
| Nebl |
C |
T |
2: 17,465,298 (GRCm39) |
V18M |
probably benign |
Het |
| Nhsl3 |
C |
T |
4: 129,117,995 (GRCm39) |
R268Q |
possibly damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,440,229 (GRCm39) |
V602A |
probably benign |
Het |
| Npepps |
G |
A |
11: 97,120,665 (GRCm39) |
P532S |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,900,139 (GRCm39) |
M285K |
probably benign |
Het |
| Or8g19 |
C |
T |
9: 39,055,761 (GRCm39) |
R122* |
probably null |
Het |
| Or8k53 |
T |
C |
2: 86,177,668 (GRCm39) |
I147M |
possibly damaging |
Het |
| Pfdn1 |
G |
A |
18: 36,584,214 (GRCm39) |
T40M |
probably benign |
Het |
| Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
| Prss40 |
T |
A |
1: 34,599,876 (GRCm39) |
H37L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,642,374 (GRCm39) |
C808* |
probably null |
Het |
| Rab3gap2 |
A |
T |
1: 184,999,270 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
C |
T |
18: 81,017,232 (GRCm39) |
R232H |
probably benign |
Het |
| Sbk3 |
A |
G |
7: 4,970,707 (GRCm39) |
F221L |
probably damaging |
Het |
| Sema7a |
T |
G |
9: 57,862,974 (GRCm39) |
|
probably benign |
Het |
| Serpina3b |
C |
A |
12: 104,104,962 (GRCm39) |
N379K |
probably benign |
Het |
| Ssbp4 |
A |
G |
8: 71,052,039 (GRCm39) |
L208P |
probably benign |
Het |
| Stxbp5 |
C |
T |
10: 9,688,003 (GRCm39) |
|
probably null |
Het |
| Tecrl |
A |
G |
5: 83,448,764 (GRCm39) |
Y160H |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,885,511 (GRCm39) |
I1773V |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,198,468 (GRCm39) |
T1511A |
probably benign |
Het |
| Utp15 |
T |
C |
13: 98,391,499 (GRCm39) |
N246S |
probably damaging |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,991 (GRCm39) |
A4T |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,640 (GRCm39) |
I703N |
probably damaging |
Het |
| Wdr93 |
A |
G |
7: 79,398,974 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfp334 |
A |
G |
2: 165,225,278 (GRCm39) |
I8T |
probably benign |
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 |
|
|
R6050:Catspere2
|
UTSW |
1 |
177,931,490 (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 |
|
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'- AGTCAACTATGCATGATATCAAAGG -3'
(R):5'- TTCAACTGAGTGCTAGAAAGAGAA -3'
Sequencing Primer
(F):5'- ACTATGCATGATATCAAAGGAACTG -3'
(R):5'- GTATTCTGATCCATGAACAGCAGGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation