Incidental Mutation 'R6011:Catsper3'
ID |
479767 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Catsper3
|
Ensembl Gene |
ENSMUSG00000021499 |
Gene Name |
cation channel, sperm associated 3 |
Synonyms |
4921522D01Rik |
MMRRC Submission |
043253-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6011 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
55932381-55956811 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55934305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 75
(I75M)
|
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: I75M
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000021961 Gene: ENSMUSG00000021499 AA Change: I75M
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: I75M
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105524 Gene: ENSMUSG00000021499 AA Change: I75M
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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,136,570 (GRCm39) |
N533K |
probably benign |
Het |
Adamts15 |
G |
T |
9: 30,814,082 (GRCm39) |
H694Q |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 34,977,598 (GRCm39) |
L377P |
probably benign |
Het |
Add2 |
T |
C |
6: 86,075,607 (GRCm39) |
L252P |
probably damaging |
Het |
Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
Ankrd13d |
A |
G |
19: 4,331,962 (GRCm39) |
L39P |
probably damaging |
Het |
Asic1 |
G |
T |
15: 99,596,960 (GRCm39) |
A541S |
probably benign |
Het |
Bhmt1b |
A |
G |
18: 87,774,663 (GRCm39) |
E62G |
probably damaging |
Het |
Bpifb2 |
A |
G |
2: 153,731,496 (GRCm39) |
|
probably null |
Het |
Ccser2 |
T |
C |
14: 36,601,532 (GRCm39) |
E837G |
probably benign |
Het |
Clasp2 |
C |
T |
9: 113,705,315 (GRCm39) |
P557L |
probably benign |
Het |
Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
Cplx3 |
A |
T |
9: 57,523,038 (GRCm39) |
D140E |
probably damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,130,380 (GRCm39) |
K72E |
probably benign |
Het |
Cyp3a44 |
A |
G |
5: 145,738,084 (GRCm39) |
|
probably null |
Het |
Disp2 |
G |
A |
2: 118,621,301 (GRCm39) |
V678I |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,867,756 (GRCm39) |
|
probably null |
Het |
Eml3 |
T |
C |
19: 8,916,471 (GRCm39) |
Y688H |
probably damaging |
Het |
Fam187a |
A |
G |
11: 102,776,267 (GRCm39) |
K24E |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,870,068 (GRCm38) |
K134E |
probably benign |
Het |
Foxl3 |
A |
G |
5: 138,807,374 (GRCm39) |
*217W |
probably null |
Het |
Gm16485 |
A |
T |
9: 8,972,454 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Hmgxb3 |
G |
A |
18: 61,296,096 (GRCm39) |
T304I |
probably damaging |
Het |
Lgsn |
A |
G |
1: 31,242,847 (GRCm39) |
S310G |
probably damaging |
Het |
Muc21 |
T |
A |
17: 35,933,074 (GRCm39) |
|
probably benign |
Het |
Niban2 |
T |
C |
2: 32,812,877 (GRCm39) |
Y482H |
probably damaging |
Het |
Or12e13 |
A |
G |
2: 87,664,259 (GRCm39) |
N292S |
probably damaging |
Het |
Or4k42 |
C |
A |
2: 111,320,192 (GRCm39) |
A104S |
probably benign |
Het |
Or6c8b |
A |
T |
10: 128,882,508 (GRCm39) |
H141Q |
probably benign |
Het |
Or7g25 |
T |
A |
9: 19,159,807 (GRCm39) |
E296V |
probably damaging |
Het |
Or9i1b |
G |
A |
19: 13,896,521 (GRCm39) |
V46I |
probably benign |
Het |
Pelo |
A |
G |
13: 115,226,302 (GRCm39) |
S52P |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,096,080 (GRCm39) |
N528S |
probably benign |
Het |
Rfc3 |
T |
A |
5: 151,567,184 (GRCm39) |
I291L |
probably damaging |
Het |
Rpl35 |
A |
T |
2: 38,894,813 (GRCm39) |
|
probably null |
Het |
Sectm1b |
C |
T |
11: 120,946,704 (GRCm39) |
V64I |
possibly damaging |
Het |
Serpina12 |
A |
G |
12: 104,001,993 (GRCm39) |
M241T |
probably damaging |
Het |
Serpina1a |
T |
A |
12: 103,823,728 (GRCm39) |
D195V |
probably damaging |
Het |
Sesn2 |
C |
T |
4: 132,226,708 (GRCm39) |
V129M |
probably damaging |
Het |
Slc4a1 |
A |
C |
11: 102,243,357 (GRCm39) |
V758G |
probably damaging |
Het |
Tmx4 |
A |
T |
2: 134,481,756 (GRCm39) |
Y56N |
probably damaging |
Het |
Traj50 |
T |
C |
14: 54,405,091 (GRCm39) |
|
probably benign |
Het |
Trio |
T |
G |
15: 27,735,631 (GRCm39) |
K2820Q |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,434,309 (GRCm39) |
G2417S |
probably benign |
Het |
Usp32 |
T |
C |
11: 84,922,923 (GRCm39) |
D665G |
possibly 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 |
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 |
|
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'- GTCTCTCTGTGTAACCACGC -3'
(R):5'- AAGAGAGAATTCTGGGAGGTTTACC -3'
Sequencing Primer
(F):5'- GTGTAACCACGCCTCTCG -3'
(R):5'- GCCACTAACTGATGCTACTGTGG -3'
|
Posted On |
2017-06-26 |