Incidental Mutation 'R4020:Catsperg2'
| ID |
312731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperg2
|
| Ensembl Gene |
ENSMUSG00000049123 |
| Gene Name |
cation channel sperm associated auxiliary subunit gamma 2 |
| Synonyms |
CATSPERG, 1700067C01Rik |
| MMRRC Submission |
040954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4020 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29396644-29426457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29416429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 328
(D328Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061193]
[ENSMUST00000207115]
[ENSMUST00000208371]
[ENSMUST00000208607]
[ENSMUST00000209126]
|
| AlphaFold |
C6KI89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061193
AA Change: D328Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: D328Y
| 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 |
probably damaging
Transcript: ENSMUST00000207115
AA Change: D208Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| 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 |
probably damaging
Transcript: ENSMUST00000208607
AA Change: D328Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209126
AA Change: D328Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
C |
8: 89,035,362 (GRCm39) |
V89L |
probably benign |
Het |
| Aebp2 |
T |
A |
6: 140,588,021 (GRCm39) |
S364T |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,388 (GRCm39) |
T206I |
probably benign |
Het |
| Ap4e1 |
C |
T |
2: 126,903,846 (GRCm39) |
S916F |
probably benign |
Het |
| Apob |
C |
T |
12: 8,044,914 (GRCm39) |
Q845* |
probably null |
Het |
| Asb4 |
A |
G |
6: 5,390,803 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,066,724 (GRCm39) |
|
probably benign |
Het |
| C1ra |
A |
T |
6: 124,496,736 (GRCm39) |
T391S |
probably benign |
Het |
| Ciapin1 |
G |
T |
8: 95,555,814 (GRCm39) |
L119M |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,077,765 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,406,407 (GRCm39) |
S455P |
probably benign |
Het |
| Dctn4 |
G |
A |
18: 60,671,329 (GRCm39) |
|
probably benign |
Het |
| Defa25 |
C |
T |
8: 21,575,245 (GRCm39) |
R75C |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,175,296 (GRCm39) |
L561P |
probably damaging |
Het |
| Dnajc7 |
A |
T |
11: 100,482,292 (GRCm39) |
F185L |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,844,267 (GRCm39) |
I1175V |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,837,422 (GRCm39) |
L302R |
possibly damaging |
Het |
| Efcab5 |
C |
T |
11: 76,994,930 (GRCm39) |
V1214I |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,419,686 (GRCm39) |
R260H |
probably damaging |
Het |
| Fam168b |
T |
C |
1: 34,867,860 (GRCm39) |
T47A |
possibly damaging |
Het |
| Gorasp1 |
G |
A |
9: 119,757,936 (GRCm39) |
R290C |
probably benign |
Het |
| Gtf2a1 |
A |
G |
12: 91,539,351 (GRCm39) |
S94P |
possibly damaging |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Impdh1 |
T |
C |
6: 29,202,693 (GRCm39) |
I446V |
probably benign |
Het |
| Krtap5-1 |
T |
C |
7: 141,850,094 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
A |
19: 33,764,804 (GRCm39) |
I17L |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,506,119 (GRCm39) |
S1950P |
probably benign |
Het |
| Lss |
T |
C |
10: 76,383,278 (GRCm39) |
M526T |
probably damaging |
Het |
| Med12l |
A |
C |
3: 59,155,363 (GRCm39) |
Q1181P |
probably damaging |
Het |
| Mtrf1l |
T |
C |
10: 5,767,454 (GRCm39) |
T221A |
probably benign |
Het |
| Muc21 |
T |
C |
17: 35,930,953 (GRCm39) |
|
probably benign |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Nfrkb |
T |
A |
9: 31,325,407 (GRCm39) |
L950Q |
possibly damaging |
Het |
| Nherf4 |
A |
T |
9: 44,162,117 (GRCm39) |
|
probably null |
Het |
| Oplah |
A |
G |
15: 76,181,476 (GRCm39) |
Y1155H |
probably damaging |
Het |
| Or5b105 |
T |
G |
19: 13,079,790 (GRCm39) |
K287Q |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,018 (GRCm39) |
T395I |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,606,723 (GRCm39) |
H259R |
probably damaging |
Het |
| Pllp |
C |
A |
8: 95,406,072 (GRCm39) |
M70I |
possibly damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,926 (GRCm39) |
T334A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,968,894 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 22,959,623 (GRCm39) |
|
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,455,390 (GRCm39) |
S170G |
probably damaging |
Het |
| Sco1 |
T |
G |
11: 66,954,846 (GRCm39) |
S284A |
probably benign |
Het |
| Slc25a10 |
T |
A |
11: 120,388,265 (GRCm39) |
M227K |
probably damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,638 (GRCm39) |
K56R |
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,179,116 (GRCm39) |
C3322G |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,151,182 (GRCm39) |
Y608H |
probably damaging |
Het |
| Zfand1 |
A |
C |
3: 10,405,816 (GRCm39) |
N262K |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,743,380 (GRCm39) |
R536H |
probably damaging |
Het |
|
| Other mutations in Catsperg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Catsperg2
|
APN |
7 |
29,404,829 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL00095:Catsperg2
|
APN |
7 |
29,397,483 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL00902:Catsperg2
|
APN |
7 |
29,400,568 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01667:Catsperg2
|
APN |
7 |
29,409,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01791:Catsperg2
|
APN |
7 |
29,404,090 (GRCm39) |
splice site |
probably null |
|
|
IGL01961:Catsperg2
|
APN |
7 |
29,421,097 (GRCm39) |
splice site |
probably benign |
|
|
IGL02187:Catsperg2
|
APN |
7 |
29,420,791 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02605:Catsperg2
|
APN |
7 |
29,418,990 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03001:Catsperg2
|
APN |
7 |
29,424,504 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03228:Catsperg2
|
APN |
7 |
29,397,650 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03239:Catsperg2
|
APN |
7 |
29,397,141 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03242:Catsperg2
|
APN |
7 |
29,424,904 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03247:Catsperg2
|
APN |
7 |
29,416,473 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03256:Catsperg2
|
APN |
7 |
29,409,299 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4520001:Catsperg2
|
UTSW |
7 |
29,409,586 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0052:Catsperg2
|
UTSW |
7 |
29,424,445 (GRCm39) |
splice site |
probably benign |
|
|
R0281:Catsperg2
|
UTSW |
7 |
29,405,996 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0357:Catsperg2
|
UTSW |
7 |
29,414,326 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0480:Catsperg2
|
UTSW |
7 |
29,420,723 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0578:Catsperg2
|
UTSW |
7 |
29,404,116 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0732:Catsperg2
|
UTSW |
7 |
29,400,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Catsperg2
|
UTSW |
7 |
29,405,049 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1535:Catsperg2
|
UTSW |
7 |
29,397,671 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1925:Catsperg2
|
UTSW |
7 |
29,397,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1990:Catsperg2
|
UTSW |
7 |
29,420,470 (GRCm39) |
nonsense |
probably null |
|
|
R3433:Catsperg2
|
UTSW |
7 |
29,400,643 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3721:Catsperg2
|
UTSW |
7 |
29,404,527 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4760:Catsperg2
|
UTSW |
7 |
29,405,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4829:Catsperg2
|
UTSW |
7 |
29,400,550 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5033:Catsperg2
|
UTSW |
7 |
29,409,559 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5093:Catsperg2
|
UTSW |
7 |
29,416,423 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5266:Catsperg2
|
UTSW |
7 |
29,416,491 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5267:Catsperg2
|
UTSW |
7 |
29,416,491 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5287:Catsperg2
|
UTSW |
7 |
29,397,263 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5427:Catsperg2
|
UTSW |
7 |
29,414,275 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5575:Catsperg2
|
UTSW |
7 |
29,405,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5685:Catsperg2
|
UTSW |
7 |
29,400,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Catsperg2
|
UTSW |
7 |
29,397,257 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5982:Catsperg2
|
UTSW |
7 |
29,412,442 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6662:Catsperg2
|
UTSW |
7 |
29,418,938 (GRCm39) |
start gained |
probably benign |
|
|
R6744:Catsperg2
|
UTSW |
7 |
29,409,244 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7171:Catsperg2
|
UTSW |
7 |
29,404,750 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7239:Catsperg2
|
UTSW |
7 |
29,409,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7336:Catsperg2
|
UTSW |
7 |
29,406,026 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7498:Catsperg2
|
UTSW |
7 |
29,416,527 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7548:Catsperg2
|
UTSW |
7 |
29,409,251 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7562:Catsperg2
|
UTSW |
7 |
29,397,144 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7565:Catsperg2
|
UTSW |
7 |
29,412,406 (GRCm39) |
missense |
probably null |
0.71 |
|
R7600:Catsperg2
|
UTSW |
7 |
29,404,283 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8460:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8461:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8751:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8752:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8829:Catsperg2
|
UTSW |
7 |
29,397,269 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8832:Catsperg2
|
UTSW |
7 |
29,397,269 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9264:Catsperg2
|
UTSW |
7 |
29,397,613 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9284:Catsperg2
|
UTSW |
7 |
29,405,006 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9468:Catsperg2
|
UTSW |
7 |
29,409,432 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Catsperg2
|
UTSW |
7 |
29,397,207 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGTCCCTACCCATGTGTG -3'
(R):5'- AGGTCTCACACTGTCTCACAC -3'
Sequencing Primer
(F):5'- AGAGTCTCATGTAGCCCAGATTC -3'
(R):5'- ACACTGTCTCACACATTATTCTCTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation