Incidental Mutation 'R6322:Catspere2'
| ID |
510133 |
| 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 |
044476-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
177810989-178000271 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 177845296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 105
(Y105*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094273]
[ENSMUST00000192146]
|
| AlphaFold |
A0A0A6YXX9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094273
AA Change: Y105*
|
| SMART Domains |
Protein: ENSMUSP00000091828
Gene: ENSMUSG00000091476
AA Change: Y105*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191719
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192146
AA Change: Y105*
|
| SMART Domains |
Protein: ENSMUSP00000142187
Gene: ENSMUSG00000091476
AA Change: Y105*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:CATSPERD
|
207 |
774 |
1.7e-200 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,559,843 (GRCm39) |
V211A |
probably benign |
Het |
| Adora3 |
G |
A |
3: 105,814,760 (GRCm39) |
R170H |
probably benign |
Het |
| Aldh1l1 |
T |
C |
6: 90,539,680 (GRCm39) |
I203T |
probably benign |
Het |
| Alox12b |
T |
C |
11: 69,049,199 (GRCm39) |
Y83H |
possibly damaging |
Het |
| Atcay |
A |
T |
10: 81,049,125 (GRCm39) |
I159K |
probably damaging |
Het |
| Blvra |
A |
G |
2: 126,922,459 (GRCm39) |
|
probably benign |
Het |
| Celsr2 |
A |
G |
3: 108,319,890 (GRCm39) |
F974S |
probably damaging |
Het |
| Cfap44 |
C |
T |
16: 44,254,029 (GRCm39) |
R918* |
probably null |
Het |
| Cpa6 |
T |
A |
1: 10,547,346 (GRCm39) |
R181S |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,675,297 (GRCm39) |
N730D |
probably damaging |
Het |
| Eif2ak1 |
A |
G |
5: 143,835,913 (GRCm39) |
T535A |
probably benign |
Het |
| Fam13c |
A |
T |
10: 70,334,721 (GRCm39) |
D149V |
probably damaging |
Het |
| Fam171a1 |
G |
A |
2: 3,227,392 (GRCm39) |
V717I |
probably benign |
Het |
| Fchsd1 |
A |
G |
18: 38,098,753 (GRCm39) |
V290A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm15446 |
A |
T |
5: 110,091,383 (GRCm39) |
H545L |
probably damaging |
Het |
| Heatr9 |
T |
G |
11: 83,407,538 (GRCm39) |
K215T |
possibly damaging |
Het |
| Hfe |
T |
A |
13: 23,889,879 (GRCm39) |
H210L |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,066,543 (GRCm39) |
T1113A |
probably damaging |
Het |
| Lipe |
A |
T |
7: 25,079,961 (GRCm39) |
V686E |
probably damaging |
Het |
| Map3k20 |
T |
G |
2: 72,263,814 (GRCm39) |
L488V |
possibly damaging |
Het |
| Moxd1 |
C |
T |
10: 24,160,709 (GRCm39) |
T454I |
probably damaging |
Het |
| Mrpl58 |
C |
T |
11: 115,301,492 (GRCm39) |
R189* |
probably null |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nkx1-1 |
T |
C |
5: 33,588,389 (GRCm39) |
N300D |
probably damaging |
Het |
| Nrm |
A |
T |
17: 36,175,605 (GRCm39) |
Q237L |
possibly damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,127 (GRCm39) |
L1286P |
probably damaging |
Het |
| Or4f4-ps1 |
T |
C |
2: 111,329,729 (GRCm39) |
F44S |
possibly damaging |
Het |
| Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,854,177 (GRCm39) |
I22V |
probably benign |
Het |
| Phf21b |
C |
A |
15: 84,671,580 (GRCm39) |
R438L |
possibly damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,383,567 (GRCm39) |
L462P |
probably benign |
Het |
| Plagl2 |
T |
C |
2: 153,073,806 (GRCm39) |
E365G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,436,675 (GRCm39) |
Y677C |
possibly damaging |
Het |
| Pramel13 |
A |
G |
4: 144,119,475 (GRCm39) |
M364T |
probably benign |
Het |
| Prkcd |
C |
A |
14: 30,321,620 (GRCm39) |
G410W |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,428,186 (GRCm39) |
I348V |
probably damaging |
Het |
| Rnmt |
C |
T |
18: 68,452,285 (GRCm39) |
P386S |
probably damaging |
Het |
| Rtn3 |
G |
A |
19: 7,435,503 (GRCm39) |
P163L |
possibly damaging |
Het |
| Sfxn1 |
T |
C |
13: 54,258,869 (GRCm39) |
C275R |
possibly damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,253,042 (GRCm39) |
S377P |
probably damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,715 (GRCm39) |
P615S |
probably damaging |
Het |
| Simc1 |
T |
C |
13: 54,698,382 (GRCm39) |
L1334S |
probably damaging |
Het |
| Slc9a2 |
C |
A |
1: 40,781,813 (GRCm39) |
Y347* |
probably null |
Het |
| Snapc5 |
T |
A |
9: 64,089,455 (GRCm39) |
I71K |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,764 (GRCm39) |
F447S |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,442,147 (GRCm39) |
C739R |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,983,808 (GRCm39) |
V28D |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,786,429 (GRCm39) |
Q848* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
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 |
|
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'- AATTCTAGTCTGAAATCTAGTTCGC -3'
(R):5'- AACCTTCAGTGAGTCCTCAAATTG -3'
Sequencing Primer
(F):5'- AGTCTGAAATCTAGTTCGCTTTATTC -3'
(R):5'- CAGTGAGTCCTCAAATTGTAGTTG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation