Incidental Mutation 'R8460:Catsperg2'
| ID |
655216 |
| 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 |
067905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R8460 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29396644-29426457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29404744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 773
(D773G)
|
| 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: D773G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: D773G
| 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: D600G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208371
AA Change: D141G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208607
AA Change: D773G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209126
AA Change: D773G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| 6030458C11Rik |
T |
C |
15: 12,818,545 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
T |
C |
2: 69,154,381 (GRCm39) |
M62V |
possibly damaging |
Het |
| Adgrf5 |
C |
A |
17: 43,750,699 (GRCm39) |
|
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,343,197 (GRCm39) |
V493D |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,591,966 (GRCm39) |
K678E |
probably damaging |
Het |
| Cd180 |
T |
C |
13: 102,839,354 (GRCm39) |
L79P |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,304,093 (GRCm39) |
S2350N |
possibly damaging |
Het |
| Cep85l |
C |
A |
10: 53,225,313 (GRCm39) |
R92L |
probably benign |
Het |
| Cyp21a1 |
T |
C |
17: 35,021,844 (GRCm39) |
D241G |
probably benign |
Het |
| Dock2 |
C |
A |
11: 34,180,825 (GRCm39) |
|
probably null |
Het |
| Fam163a |
A |
G |
1: 155,955,712 (GRCm39) |
Y27H |
probably damaging |
Het |
| Gmnc |
G |
A |
16: 26,779,204 (GRCm39) |
L274F |
probably benign |
Het |
| Gpc2 |
A |
T |
5: 138,274,891 (GRCm39) |
C283S |
probably damaging |
Het |
| Grm5 |
A |
G |
7: 87,252,249 (GRCm39) |
I166M |
probably damaging |
Het |
| Ighv3-1 |
A |
T |
12: 113,928,056 (GRCm39) |
L101* |
probably null |
Het |
| Impact |
C |
T |
18: 13,109,564 (GRCm39) |
S86L |
probably benign |
Het |
| Kif1b |
C |
T |
4: 149,272,077 (GRCm39) |
V1575I |
possibly damaging |
Het |
| Klhl6 |
A |
G |
16: 19,775,781 (GRCm39) |
V259A |
probably damaging |
Het |
| Krt81 |
G |
T |
15: 101,361,493 (GRCm39) |
A29E |
probably damaging |
Het |
| Ldah |
A |
G |
12: 8,318,548 (GRCm39) |
N219S |
probably benign |
Het |
| Map3k12 |
C |
T |
15: 102,410,032 (GRCm39) |
R581Q |
probably damaging |
Het |
| Marveld3 |
T |
C |
8: 110,681,040 (GRCm39) |
D285G |
probably benign |
Het |
| Mcpt2 |
A |
G |
14: 56,281,201 (GRCm39) |
D135G |
possibly damaging |
Het |
| Megf6 |
T |
A |
4: 154,350,634 (GRCm39) |
C1048* |
probably null |
Het |
| Megf9 |
A |
T |
4: 70,374,208 (GRCm39) |
V276D |
probably damaging |
Het |
| Nfya |
T |
C |
17: 48,698,974 (GRCm39) |
H273R |
possibly damaging |
Het |
| Olah |
T |
A |
2: 3,362,762 (GRCm39) |
Q21H |
probably damaging |
Het |
| Or10s1 |
T |
C |
9: 39,986,353 (GRCm39) |
L254P |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,531 (GRCm39) |
C286* |
probably null |
Het |
| Or7g21 |
T |
C |
9: 19,032,988 (GRCm39) |
S243P |
probably damaging |
Het |
| Or8b47 |
A |
T |
9: 38,427,926 (GRCm39) |
|
probably benign |
Het |
| Or8k23 |
T |
G |
2: 86,186,198 (GRCm39) |
H176P |
probably damaging |
Het |
| Or9s23 |
T |
A |
1: 92,501,268 (GRCm39) |
M125K |
probably damaging |
Het |
| Pcdhgb6 |
T |
A |
18: 37,877,278 (GRCm39) |
L662Q |
possibly damaging |
Het |
| Pou4f3 |
T |
C |
18: 42,529,053 (GRCm39) |
M332T |
probably damaging |
Het |
| Pramel19 |
C |
T |
4: 101,798,424 (GRCm39) |
P132S |
probably benign |
Het |
| Pramel58 |
T |
A |
5: 94,831,790 (GRCm39) |
C266S |
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,331,692 (GRCm39) |
S327L |
possibly damaging |
Het |
| Rdh5 |
C |
T |
10: 128,754,136 (GRCm39) |
R99H |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,383,292 (GRCm39) |
F263L |
unknown |
Het |
| Setd2 |
A |
G |
9: 110,423,338 (GRCm39) |
N353S |
|
Het |
| Sh3gl1 |
T |
C |
17: 56,326,321 (GRCm39) |
N109S |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,107,705 (GRCm39) |
Y188* |
probably null |
Het |
| Slc25a13 |
A |
T |
6: 6,073,513 (GRCm39) |
N448K |
probably damaging |
Het |
| Slc44a5 |
G |
A |
3: 153,975,667 (GRCm39) |
V693M |
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,503,968 (GRCm39) |
S206P |
probably damaging |
Het |
| Snx33 |
T |
A |
9: 56,833,476 (GRCm39) |
I198F |
possibly damaging |
Het |
| Vps13d |
A |
T |
4: 144,897,009 (GRCm39) |
|
probably benign |
Het |
| Vps33b |
T |
C |
7: 79,937,617 (GRCm39) |
V455A |
probably benign |
Het |
| Zdbf2 |
CGCTCCGTGCCCCCCGCGCGCCCCGTGCCTCCCACGCGCCCCGTGCCTCCCGCAGGCTCCGTGCCCCCCGCG |
CGCTCCGTGCCCCCCGCG |
1: 63,348,729 (GRCm39) |
|
probably benign |
Het |
| Zfp26 |
A |
T |
9: 20,348,373 (GRCm39) |
H730Q |
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 |
|
R4020:Catsperg2
|
UTSW |
7 |
29,416,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- AGTCACAGTTACTGAAAGGCACTC -3'
(R):5'- TGACCATCCTGTGCATCCAG -3'
Sequencing Primer
(F):5'- AGGATCCGCTATTGTCACAG -3'
(R):5'- ATCCTGTGCATCCAGGATTAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation