Incidental Mutation 'IGL03247:Catsperg2'
| ID |
414449 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Catsperg2
|
| Ensembl Gene |
ENSMUSG00000049123 |
| Gene Name |
cation channel sperm associated auxiliary subunit gamma 2 |
| Synonyms |
1700067C01Rik, CATSPERG |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL03247
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
29697219-29727032 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29717048 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 313
(N313S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061193]
[ENSMUST00000207115]
[ENSMUST00000208371]
[ENSMUST00000208607]
[ENSMUST00000209126]
|
| AlphaFold |
C6KI89 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061193
AA Change: N313S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: N313S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CATSPERG
|
2 |
973 |
N/A |
PFAM |
|
transmembrane domain
|
1065 |
1087 |
N/A |
INTRINSIC |
|
low complexity region
|
1106 |
1118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207115
AA Change: N193S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208371
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208607
AA Change: N313S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209126
AA Change: N313S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
T |
A |
14: 55,770,096 (GRCm38) |
I926F |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,487,822 (GRCm38) |
N418D |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,678,597 (GRCm38) |
V3375A |
possibly damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,860,441 (GRCm38) |
M1L |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,264,367 (GRCm38) |
D1188G |
probably damaging |
Het |
| Car2 |
T |
A |
3: 14,887,939 (GRCm38) |
L47Q |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,410,200 (GRCm38) |
V107A |
probably benign |
Het |
| Dolk |
T |
C |
2: 30,285,511 (GRCm38) |
Y174C |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,370,425 (GRCm38) |
E219G |
probably benign |
Het |
| Ern2 |
T |
C |
7: 122,171,671 (GRCm38) |
E733G |
probably benign |
Het |
| Fam159a |
A |
T |
4: 108,367,901 (GRCm38) |
C155S |
probably benign |
Het |
| Fam228a |
A |
G |
12: 4,737,734 (GRCm38) |
F13S |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,568,208 (GRCm38) |
V829A |
probably benign |
Het |
| Gid4 |
C |
A |
11: 60,432,343 (GRCm38) |
T87N |
probably benign |
Het |
| H2-Ob |
A |
G |
17: 34,243,492 (GRCm38) |
K152R |
probably benign |
Het |
| Ifna2 |
T |
A |
4: 88,683,377 (GRCm38) |
T135S |
probably benign |
Het |
| Il1rapl2 |
G |
A |
X: 138,789,680 (GRCm38) |
G298D |
probably damaging |
Het |
| Mbd1 |
T |
A |
18: 74,274,754 (GRCm38) |
L174* |
probably null |
Het |
| Mga |
T |
A |
2: 119,935,513 (GRCm38) |
D1341E |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,348,631 (GRCm38) |
M54K |
probably benign |
Het |
| Mphosph8 |
T |
A |
14: 56,678,820 (GRCm38) |
|
probably null |
Het |
| Mrps23 |
A |
G |
11: 88,210,096 (GRCm38) |
|
probably benign |
Het |
| Necab1 |
C |
T |
4: 14,960,046 (GRCm38) |
M300I |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,779,620 (GRCm38) |
D660N |
probably damaging |
Het |
| Olfr693 |
T |
A |
7: 106,677,547 (GRCm38) |
H313L |
probably benign |
Het |
| Olfr824 |
T |
A |
10: 130,126,715 (GRCm38) |
E114V |
probably damaging |
Het |
| P2ry13 |
A |
T |
3: 59,209,592 (GRCm38) |
V255D |
possibly damaging |
Het |
| Peak1 |
C |
T |
9: 56,257,930 (GRCm38) |
E905K |
probably damaging |
Het |
| Picalm |
C |
A |
7: 90,194,291 (GRCm38) |
Q550K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,510,305 (GRCm38) |
V640E |
possibly damaging |
Het |
| Sec31b |
T |
G |
19: 44,518,940 (GRCm38) |
K817N |
possibly damaging |
Het |
| Skint2 |
C |
A |
4: 112,626,026 (GRCm38) |
H209Q |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,940,808 (GRCm38) |
S193G |
probably damaging |
Het |
| Tacr3 |
A |
G |
3: 134,930,091 (GRCm38) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,865,443 (GRCm38) |
M1041V |
possibly damaging |
Het |
| Tm4sf1 |
A |
G |
3: 57,293,015 (GRCm38) |
S89P |
possibly damaging |
Het |
| Tusc3 |
T |
A |
8: 39,130,777 (GRCm38) |
N299K |
possibly damaging |
Het |
| Washc4 |
T |
C |
10: 83,564,463 (GRCm38) |
S418P |
probably benign |
Het |
|
| Other mutations in Catsperg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Catsperg2
|
APN |
7 |
29,705,404 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL00095:Catsperg2
|
APN |
7 |
29,698,058 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL00902:Catsperg2
|
APN |
7 |
29,701,143 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01667:Catsperg2
|
APN |
7 |
29,710,133 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01791:Catsperg2
|
APN |
7 |
29,704,665 (GRCm38) |
splice site |
probably null |
|
|
IGL01961:Catsperg2
|
APN |
7 |
29,721,672 (GRCm38) |
splice site |
probably benign |
|
|
IGL02187:Catsperg2
|
APN |
7 |
29,721,366 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02605:Catsperg2
|
APN |
7 |
29,719,565 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL03001:Catsperg2
|
APN |
7 |
29,725,079 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL03228:Catsperg2
|
APN |
7 |
29,698,225 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03239:Catsperg2
|
APN |
7 |
29,697,716 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL03242:Catsperg2
|
APN |
7 |
29,725,479 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03256:Catsperg2
|
APN |
7 |
29,709,874 (GRCm38) |
missense |
probably damaging |
0.99 |
|
PIT4520001:Catsperg2
|
UTSW |
7 |
29,710,161 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0052:Catsperg2
|
UTSW |
7 |
29,725,020 (GRCm38) |
splice site |
probably benign |
|
|
R0281:Catsperg2
|
UTSW |
7 |
29,706,571 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0357:Catsperg2
|
UTSW |
7 |
29,714,901 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0480:Catsperg2
|
UTSW |
7 |
29,721,298 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0578:Catsperg2
|
UTSW |
7 |
29,704,691 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R0732:Catsperg2
|
UTSW |
7 |
29,700,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0826:Catsperg2
|
UTSW |
7 |
29,705,624 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1535:Catsperg2
|
UTSW |
7 |
29,698,246 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1925:Catsperg2
|
UTSW |
7 |
29,697,764 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1990:Catsperg2
|
UTSW |
7 |
29,721,045 (GRCm38) |
nonsense |
probably null |
|
|
R3433:Catsperg2
|
UTSW |
7 |
29,701,218 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R3721:Catsperg2
|
UTSW |
7 |
29,705,102 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4020:Catsperg2
|
UTSW |
7 |
29,717,004 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4760:Catsperg2
|
UTSW |
7 |
29,705,635 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4829:Catsperg2
|
UTSW |
7 |
29,701,125 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5033:Catsperg2
|
UTSW |
7 |
29,710,134 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5093:Catsperg2
|
UTSW |
7 |
29,716,998 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5266:Catsperg2
|
UTSW |
7 |
29,717,066 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5267:Catsperg2
|
UTSW |
7 |
29,717,066 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5287:Catsperg2
|
UTSW |
7 |
29,697,838 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5427:Catsperg2
|
UTSW |
7 |
29,714,850 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5575:Catsperg2
|
UTSW |
7 |
29,705,590 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R5685:Catsperg2
|
UTSW |
7 |
29,701,188 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5844:Catsperg2
|
UTSW |
7 |
29,697,832 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5982:Catsperg2
|
UTSW |
7 |
29,713,017 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R6662:Catsperg2
|
UTSW |
7 |
29,719,513 (GRCm38) |
start gained |
probably benign |
|
|
R6744:Catsperg2
|
UTSW |
7 |
29,709,819 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7171:Catsperg2
|
UTSW |
7 |
29,705,325 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7239:Catsperg2
|
UTSW |
7 |
29,710,082 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7336:Catsperg2
|
UTSW |
7 |
29,706,601 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7498:Catsperg2
|
UTSW |
7 |
29,717,102 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7548:Catsperg2
|
UTSW |
7 |
29,709,826 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7562:Catsperg2
|
UTSW |
7 |
29,697,719 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7565:Catsperg2
|
UTSW |
7 |
29,712,981 (GRCm38) |
missense |
probably null |
0.71 |
|
R7600:Catsperg2
|
UTSW |
7 |
29,704,858 (GRCm38) |
missense |
probably benign |
0.32 |
|
R8460:Catsperg2
|
UTSW |
7 |
29,705,319 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8461:Catsperg2
|
UTSW |
7 |
29,705,319 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8751:Catsperg2
|
UTSW |
7 |
29,705,319 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8752:Catsperg2
|
UTSW |
7 |
29,705,319 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8829:Catsperg2
|
UTSW |
7 |
29,697,844 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8832:Catsperg2
|
UTSW |
7 |
29,697,844 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9264:Catsperg2
|
UTSW |
7 |
29,698,188 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9284:Catsperg2
|
UTSW |
7 |
29,705,581 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9468:Catsperg2
|
UTSW |
7 |
29,710,007 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1177:Catsperg2
|
UTSW |
7 |
29,697,782 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
| Posted On |
2016-08-02 |
Incidental Mutation