Incidental Mutation 'R3433:Catsperg2'
| ID |
266296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperg2
|
| Ensembl Gene |
ENSMUSG00000049123 |
| Gene Name |
cation channel sperm associated auxiliary subunit gamma 2 |
| Synonyms |
1700067C01Rik, CATSPERG |
| MMRRC Submission |
040651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R3433 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29697219-29727032 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29701218 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 696
(F696S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061193]
[ENSMUST00000207115]
[ENSMUST00000208371]
[ENSMUST00000208607]
[ENSMUST00000209126]
|
| AlphaFold |
C6KI89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061193
AA Change: F869S
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: F869S
| 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: F696S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207483
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208371
AA Change: F237S
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208607
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209126
AA Change: F869S
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 120,294,232 (GRCm38) |
W1302R |
probably damaging |
Het |
| Abcf1 |
A |
G |
17: 35,958,217 (GRCm38) |
Y689H |
probably benign |
Het |
| Adamtsl5 |
T |
C |
10: 80,342,891 (GRCm38) |
T218A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 9,009,994 (GRCm38) |
V2881L |
probably benign |
Het |
| Atp6v1b1 |
C |
A |
6: 83,743,092 (GRCm38) |
T3K |
possibly damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,372,697 (GRCm38) |
R1112S |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,507,694 (GRCm38) |
D1331G |
probably benign |
Het |
| Cd33 |
T |
C |
7: 43,529,907 (GRCm38) |
T273A |
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,659,949 (GRCm38) |
C562Y |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 67,834,892 (GRCm38) |
R816G |
probably benign |
Het |
| Cnot11 |
G |
A |
1: 39,545,187 (GRCm38) |
|
probably null |
Het |
| Col18a1 |
A |
G |
10: 77,096,268 (GRCm38) |
L329P |
unknown |
Het |
| Dnah9 |
T |
C |
11: 66,075,112 (GRCm38) |
M1693V |
possibly damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,477,631 (GRCm38) |
I701T |
probably damaging |
Het |
| Figla |
G |
T |
6: 86,017,429 (GRCm38) |
R62L |
probably damaging |
Het |
| Gca |
T |
G |
2: 62,689,974 (GRCm38) |
S159R |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,383,525 (GRCm38) |
A163T |
probably damaging |
Het |
| Gm10845 |
C |
T |
14: 79,863,411 (GRCm38) |
|
noncoding transcript |
Het |
| Gm5114 |
T |
C |
7: 39,409,197 (GRCm38) |
K333E |
probably benign |
Het |
| Ift140 |
T |
C |
17: 25,036,308 (GRCm38) |
I466T |
probably benign |
Het |
| Il6st |
A |
G |
13: 112,503,831 (GRCm38) |
K653E |
probably damaging |
Het |
| Kansl2 |
A |
G |
15: 98,528,861 (GRCm38) |
|
probably null |
Het |
| Kcnh7 |
T |
C |
2: 62,721,917 (GRCm38) |
D910G |
probably benign |
Het |
| Leng8 |
C |
A |
7: 4,142,132 (GRCm38) |
T177K |
probably benign |
Het |
| Lrrtm2 |
A |
C |
18: 35,213,897 (GRCm38) |
S117R |
probably damaging |
Het |
| Megf8 |
G |
T |
7: 25,360,124 (GRCm38) |
A2285S |
probably benign |
Het |
| Meiob |
T |
C |
17: 24,816,597 (GRCm38) |
|
probably benign |
Het |
| Myo18a |
G |
T |
11: 77,818,044 (GRCm38) |
|
probably null |
Het |
| Nars |
A |
T |
18: 64,509,303 (GRCm38) |
M156K |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,247,811 (GRCm38) |
S499P |
possibly damaging |
Het |
| Olfr1251 |
T |
C |
2: 89,667,233 (GRCm38) |
I218V |
probably benign |
Het |
| Olfr458 |
G |
A |
6: 42,460,954 (GRCm38) |
H22Y |
probably benign |
Het |
| Olfr47 |
A |
T |
6: 43,235,673 (GRCm38) |
I22F |
probably damaging |
Het |
| Pcdh15 |
T |
G |
10: 74,631,499 (GRCm38) |
S1715A |
probably benign |
Het |
| Ptprd |
C |
A |
4: 76,086,011 (GRCm38) |
|
probably null |
Het |
| Ros1 |
A |
G |
10: 52,091,108 (GRCm38) |
Y1668H |
probably benign |
Het |
| Rrbp1 |
A |
G |
2: 143,952,280 (GRCm38) |
|
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,872,100 (GRCm38) |
Y376C |
probably damaging |
Het |
| Seh1l |
A |
C |
18: 67,793,152 (GRCm38) |
K358T |
probably benign |
Het |
| Sema3e |
A |
T |
5: 14,252,714 (GRCm38) |
Y751F |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 92,943,086 (GRCm38) |
V1151F |
probably damaging |
Het |
| Spred2 |
G |
T |
11: 19,998,277 (GRCm38) |
E91* |
probably null |
Het |
| Sspo |
A |
T |
6: 48,475,951 (GRCm38) |
|
probably null |
Het |
| Tcaf1 |
A |
G |
6: 42,686,574 (GRCm38) |
V124A |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 85,071,016 (GRCm38) |
|
probably benign |
Het |
| Txndc11 |
T |
C |
16: 11,088,188 (GRCm38) |
T493A |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,841,648 (GRCm38) |
Q23L |
possibly damaging |
Het |
| Vgf |
T |
C |
5: 137,031,019 (GRCm38) |
F12L |
probably benign |
Het |
| Zfp13 |
G |
A |
17: 23,576,628 (GRCm38) |
T323I |
probably damaging |
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 |
|
|
IGL03247:Catsperg2
|
APN |
7 |
29,717,048 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTAAATCTGAGAGAAGGGAT -3'
(R):5'- ACAGAGGAGTCTATCTCATAAACCAA -3'
Sequencing Primer
(F):5'- TGGAACACACAGTCGCG -3'
(R):5'- CTTCTGGCATGCAGGAGTACATAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation