Incidental Mutation 'R4113:Catsper3'
ID |
314516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Catsper3
|
Ensembl Gene |
ENSMUSG00000021499 |
Gene Name |
cation channel, sperm associated 3 |
Synonyms |
4921522D01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4113 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
55932381-55956811 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55934183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 35
(K35E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105524
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021961]
[ENSMUST00000109898]
|
AlphaFold |
Q80W99 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021961
AA Change: K35E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021961 Gene: ENSMUSG00000021499 AA Change: K35E
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: K35E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105524 Gene: ENSMUSG00000021499 AA Change: K35E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130840
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152292
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154384
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.6%
- 20x: 96.1%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,005,827 (GRCm39) |
M458T |
probably benign |
Het |
Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
Dcaf13 |
T |
A |
15: 38,993,615 (GRCm39) |
I236N |
probably damaging |
Het |
Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,414,722 (GRCm39) |
L41P |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,003,420 (GRCm39) |
K514R |
possibly damaging |
Het |
Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Eya4 |
G |
T |
10: 23,031,849 (GRCm39) |
S235Y |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Gdf3 |
A |
G |
6: 122,584,016 (GRCm39) |
I117T |
probably damaging |
Het |
Gm5611 |
T |
A |
9: 16,941,989 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c4 |
G |
A |
2: 28,717,567 (GRCm39) |
T771I |
probably damaging |
Het |
Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
Hyls1 |
T |
A |
9: 35,472,714 (GRCm39) |
Y234F |
probably damaging |
Het |
Irak1bp1 |
T |
C |
9: 82,728,728 (GRCm39) |
S220P |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,071,698 (GRCm39) |
V862I |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Or14a258 |
G |
A |
7: 86,035,733 (GRCm39) |
T45M |
possibly damaging |
Het |
Or4b12 |
A |
T |
2: 90,096,684 (GRCm39) |
L30H |
probably damaging |
Het |
Pcdh8 |
T |
C |
14: 80,004,953 (GRCm39) |
D927G |
probably damaging |
Het |
Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
Ptprm |
T |
C |
17: 67,032,808 (GRCm39) |
D1015G |
probably damaging |
Het |
Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
Riox2 |
C |
T |
16: 59,312,257 (GRCm39) |
L465F |
probably benign |
Het |
Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
Stab1 |
C |
T |
14: 30,890,436 (GRCm39) |
R5Q |
probably damaging |
Het |
Stmn3 |
T |
C |
2: 180,949,089 (GRCm39) |
K135E |
possibly damaging |
Het |
Synj2 |
G |
A |
17: 6,058,240 (GRCm39) |
G243S |
probably benign |
Het |
Tasor |
C |
T |
14: 27,181,918 (GRCm39) |
R483* |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tshz2 |
C |
A |
2: 169,727,450 (GRCm39) |
P213Q |
probably benign |
Het |
Tssk4 |
A |
G |
14: 55,887,830 (GRCm39) |
T9A |
probably benign |
Het |
Ube4a |
T |
A |
9: 44,860,247 (GRCm39) |
I272F |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,315,691 (GRCm39) |
D125G |
probably benign |
Het |
Yap1 |
A |
T |
9: 7,938,432 (GRCm39) |
*358K |
probably null |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
probably damaging |
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 |
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'- GGGTCACTGTGTCACTCAAC -3'
(R):5'- CCTCTTGCAACAAAGATGCC -3'
Sequencing Primer
(F):5'- CACTGTGTCACTCAACTGCTTATAAG -3'
(R):5'- TTTCAGAAACAATACAGGCAAAGTAG -3'
|
Posted On |
2015-05-14 |