Incidental Mutation 'R6064:Catsper3'
| ID |
483983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsper3
|
| Ensembl Gene |
ENSMUSG00000021499 |
| Gene Name |
cation channel, sperm associated 3 |
| Synonyms |
4921522D01Rik |
| MMRRC Submission |
044228-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6064 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55932381-55956811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55954065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 278
(F278L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021961]
[ENSMUST00000109898]
|
| AlphaFold |
Q80W99 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021961
AA Change: F278L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021961
Gene: ENSMUSG00000021499
AA Change: F278L
| 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 |
probably damaging
Transcript: ENSMUST00000109898
AA Change: F265L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105524
Gene: ENSMUSG00000021499
AA Change: F265L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
C |
T |
5: 50,117,667 (GRCm39) |
D1294N |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,150,029 (GRCm39) |
T92A |
probably benign |
Het |
| Bach1 |
A |
G |
16: 87,526,752 (GRCm39) |
D738G |
probably damaging |
Het |
| Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
| Cmya5 |
T |
A |
13: 93,226,157 (GRCm39) |
N2977I |
probably damaging |
Het |
| Cnbd1 |
T |
A |
4: 18,895,084 (GRCm39) |
E219D |
probably benign |
Het |
| Dst |
A |
G |
1: 34,233,132 (GRCm39) |
D3556G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,151,243 (GRCm39) |
E306G |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,229,605 (GRCm39) |
F135L |
probably benign |
Het |
| Fyb1 |
A |
C |
15: 6,668,349 (GRCm39) |
K514T |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,434,223 (GRCm39) |
C280S |
possibly damaging |
Het |
| Lrig1 |
T |
C |
6: 94,603,428 (GRCm39) |
E240G |
probably damaging |
Het |
| Macc1 |
A |
T |
12: 119,409,400 (GRCm39) |
H56L |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Muc6 |
T |
C |
7: 141,234,640 (GRCm39) |
R696G |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,032,273 (GRCm39) |
I32V |
probably benign |
Het |
| Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
| Or5d16 |
A |
G |
2: 87,773,828 (GRCm39) |
M48T |
probably benign |
Het |
| Or5h17 |
T |
G |
16: 58,820,186 (GRCm39) |
I46S |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,395,779 (GRCm39) |
T80A |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,418 (GRCm39) |
Y447N |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,958 (GRCm39) |
T1126A |
probably benign |
Het |
| Scgb1b10 |
T |
C |
7: 31,800,627 (GRCm39) |
L72S |
probably damaging |
Het |
| Slc25a33 |
A |
G |
4: 149,836,921 (GRCm39) |
V141A |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,737 (GRCm39) |
Y76C |
probably damaging |
Het |
| Tmem235 |
T |
C |
11: 117,753,764 (GRCm39) |
V107A |
possibly damaging |
Het |
| Vnn1 |
G |
T |
10: 23,770,807 (GRCm39) |
A12S |
probably benign |
Het |
| Zfp606 |
T |
G |
7: 12,214,960 (GRCm39) |
W63G |
possibly damaging |
Het |
| Zfp788 |
T |
A |
7: 41,297,878 (GRCm39) |
F119L |
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 |
|
|
R3056: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 |
|
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'- GTACCCAACCCTGCAAGTTC -3'
(R):5'- TGGAATCCAAAGCCCTTCCTC -3'
Sequencing Primer
(F):5'- TCACCTTATGATGGAGGGCAGC -3'
(R):5'- AAAGCCCTTCCTCCTGGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation