Incidental Mutation 'R6438:Catspere2'
| ID |
518847 |
| 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 |
044576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6438 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
177810989-178000271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 177938869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 581
(Y581H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000192146]
|
| AlphaFold |
A0A0A6YXX9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191719
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192146
AA Change: Y581H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142187
Gene: ENSMUSG00000091476
AA Change: Y581H
| 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: 97.8%
- 20x: 93.0%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
A |
T |
10: 67,384,371 (GRCm39) |
I78N |
probably damaging |
Het |
| Arhgap18 |
T |
C |
10: 26,648,694 (GRCm39) |
|
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,393 (GRCm39) |
T68A |
probably benign |
Het |
| Atxn2 |
T |
A |
5: 121,917,495 (GRCm39) |
I463N |
probably damaging |
Het |
| B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
| C1ra |
C |
T |
6: 124,490,736 (GRCm39) |
T43I |
possibly damaging |
Het |
| C6 |
T |
A |
15: 4,826,465 (GRCm39) |
Y683N |
possibly damaging |
Het |
| Cdk12 |
T |
A |
11: 98,115,293 (GRCm39) |
Y811* |
probably null |
Het |
| Cfap20dc |
C |
T |
14: 8,431,701 (GRCm38) |
V644M |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,725,149 (GRCm39) |
E1159D |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,766,969 (GRCm39) |
S505T |
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,401,390 (GRCm39) |
Y13F |
probably damaging |
Het |
| Esco1 |
A |
T |
18: 10,572,031 (GRCm39) |
C770S |
probably damaging |
Het |
| Evpl |
C |
A |
11: 116,120,927 (GRCm39) |
R436L |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,663,970 (GRCm39) |
|
probably null |
Het |
| Gm17078 |
A |
G |
14: 51,848,695 (GRCm39) |
V14A |
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,596,242 (GRCm39) |
*776Q |
probably null |
Het |
| Ldb2 |
T |
C |
5: 44,637,652 (GRCm39) |
R219G |
probably damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,712,062 (GRCm39) |
E587G |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 15,619,017 (GRCm39) |
S294P |
|
Het |
| Map7 |
A |
G |
10: 20,143,003 (GRCm39) |
E384G |
unknown |
Het |
| Miga1 |
T |
C |
3: 152,028,040 (GRCm39) |
D163G |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,099,382 (GRCm39) |
S1680F |
probably damaging |
Het |
| Nell2 |
C |
T |
15: 95,130,379 (GRCm39) |
V665M |
probably damaging |
Het |
| Npas3 |
T |
C |
12: 54,115,481 (GRCm39) |
V770A |
probably damaging |
Het |
| Pcm1 |
C |
T |
8: 41,778,418 (GRCm39) |
R1818W |
possibly damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,668,740 (GRCm39) |
N701K |
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,749,022 (GRCm39) |
V187A |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,214,725 (GRCm39) |
C654S |
probably damaging |
Het |
| Srek1ip1 |
A |
G |
13: 104,973,878 (GRCm39) |
Y95C |
probably benign |
Het |
| Synpo2l |
A |
G |
14: 20,711,204 (GRCm39) |
V472A |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,602,673 (GRCm39) |
I231N |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,314,266 (GRCm39) |
M717T |
probably benign |
Het |
| Zfp672 |
T |
C |
11: 58,207,563 (GRCm39) |
T253A |
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 |
|
|
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'- GTGATTTCCTCAGCATAACACAAAC -3'
(R):5'- TGACTCCAAATTGTCAGGCTTTC -3'
Sequencing Primer
(F):5'- CAGACAGTCTAGAGTTTGACCTCTG -3'
(R):5'- AGGCTTTCTCCTTTATCCATATGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation