Incidental Mutation 'R3056:Catsper3'
| ID |
265185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsper3
|
| Ensembl Gene |
ENSMUSG00000021499 |
| Gene Name |
cation channel, sperm associated 3 |
| Synonyms |
4921522D01Rik |
| MMRRC Submission |
040565-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55932381-55956811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55956709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 376
(S376P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021961]
[ENSMUST00000109898]
|
| AlphaFold |
Q80W99 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021961
AA Change: S389P
|
| SMART Domains |
Protein: ENSMUSP00000021961
Gene: ENSMUSG00000021499
AA Change: S389P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
49 |
277 |
1.8e-33 |
PFAM |
|
Pfam:PKD_channel
|
144 |
273 |
5e-7 |
PFAM |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000109898
AA Change: S376P
|
| SMART Domains |
Protein: ENSMUSP00000105524
Gene: ENSMUSG00000021499
AA Change: S376P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
72 |
254 |
4.9e-32 |
PFAM |
|
Pfam:PKD_channel
|
125 |
261 |
2.1e-7 |
PFAM |
|
coiled coil region
|
270 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
382 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for this mutation are viable and exhibit no gross physical or behavioral abnormality. Although wild-type and homozygous mutant females bred to wild-type males exhibit similar fertility, male homozygotes are infertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,401,268 (GRCm39) |
I72T |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,127,626 (GRCm39) |
M131K |
probably benign |
Het |
| Agbl1 |
C |
T |
7: 76,416,232 (GRCm39) |
T751M |
possibly damaging |
Het |
| Asb14 |
A |
G |
14: 26,636,146 (GRCm39) |
I510V |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,769,355 (GRCm39) |
I187T |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,280,491 (GRCm39) |
S2805P |
unknown |
Het |
| Cxcr6 |
A |
T |
9: 123,639,529 (GRCm39) |
I177F |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,307,869 (GRCm39) |
D3061G |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 87,138,409 (GRCm39) |
F835S |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
| Fxr1 |
A |
G |
3: 34,103,333 (GRCm39) |
E221G |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,151,272 (GRCm39) |
T228A |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,738,592 (GRCm39) |
T1457K |
probably damaging |
Het |
| Ighm |
T |
A |
12: 113,382,596 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Lmx1b |
G |
A |
2: 33,457,297 (GRCm39) |
Q168* |
probably null |
Het |
| Ltbp3 |
C |
A |
19: 5,801,434 (GRCm39) |
N659K |
probably benign |
Het |
| Micos13 |
A |
G |
17: 56,915,889 (GRCm39) |
F55S |
probably damaging |
Het |
| Mrpl20 |
G |
T |
4: 155,888,329 (GRCm39) |
V43F |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,487,860 (GRCm39) |
N825S |
possibly damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,583 (GRCm39) |
T48S |
probably benign |
Het |
| Or5p67 |
A |
T |
7: 107,922,757 (GRCm39) |
V42E |
possibly damaging |
Het |
| Or8k3b |
C |
A |
2: 86,520,896 (GRCm39) |
C141F |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 100,912,250 (GRCm39) |
R79Q |
probably damaging |
Het |
| Peg10 |
G |
A |
6: 4,755,029 (GRCm39) |
R270H |
possibly damaging |
Het |
| Pttg1ip2 |
A |
T |
5: 5,507,283 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
| Tmem92 |
C |
T |
11: 94,669,873 (GRCm39) |
C86Y |
probably benign |
Het |
| Tnfrsf8 |
C |
T |
4: 145,011,895 (GRCm39) |
|
probably null |
Het |
| Tnks1bp1 |
T |
A |
2: 84,900,344 (GRCm39) |
C1433* |
probably null |
Het |
| Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,360 (GRCm39) |
Y405F |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
Het |
| Xrcc4 |
T |
C |
13: 90,210,196 (GRCm39) |
T83A |
probably benign |
Het |
|
| Other mutations in Catsper3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Catsper3
|
APN |
13 |
55,946,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01794:Catsper3
|
APN |
13 |
55,946,719 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02419:Catsper3
|
APN |
13 |
55,955,881 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03108:Catsper3
|
APN |
13 |
55,955,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0241:Catsper3
|
UTSW |
13 |
55,952,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Catsper3
|
UTSW |
13 |
55,952,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Catsper3
|
UTSW |
13 |
55,953,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Catsper3
|
UTSW |
13 |
55,955,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3055:Catsper3
|
UTSW |
13 |
55,956,709 (GRCm39) |
missense |
unknown |
|
|
R4092:Catsper3
|
UTSW |
13 |
55,932,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4113:Catsper3
|
UTSW |
13 |
55,934,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5197:Catsper3
|
UTSW |
13 |
55,955,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6011:Catsper3
|
UTSW |
13 |
55,934,305 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6064:Catsper3
|
UTSW |
13 |
55,954,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6385:Catsper3
|
UTSW |
13 |
55,934,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6966:Catsper3
|
UTSW |
13 |
55,946,672 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7128:Catsper3
|
UTSW |
13 |
55,946,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7373:Catsper3
|
UTSW |
13 |
55,955,945 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7565:Catsper3
|
UTSW |
13 |
55,932,538 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8712:Catsper3
|
UTSW |
13 |
55,953,657 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8879:Catsper3
|
UTSW |
13 |
55,952,708 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9029:Catsper3
|
UTSW |
13 |
55,954,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Catsper3
|
UTSW |
13 |
55,946,705 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9397:Catsper3
|
UTSW |
13 |
55,946,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9570:Catsper3
|
UTSW |
13 |
55,953,669 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9733:Catsper3
|
UTSW |
13 |
55,946,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Catsper3
|
UTSW |
13 |
55,955,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAGCTGCCTGAAGTATTCG -3'
(R):5'- ACAGATGAGCACTTATCTAGGCC -3'
Sequencing Primer
(F):5'- CATACCTGTGGGAATGGCGAC -3'
(R):5'- AGATGAGCACTTATCTAGGCCTATCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation