Incidental Mutation 'R5844:Catsperg2'
ID |
450593 |
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 |
044062-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R5844 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
29396644-29426457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 29397257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1082
(L1082Q)
|
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: L1082Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000052285 Gene: ENSMUSG00000049123 AA Change: L1082Q
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 benign
Transcript: ENSMUST00000207115
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208371
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208607
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209126
AA Change: L1082Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
T |
15: 81,950,065 (GRCm39) |
M1321L |
probably benign |
Het |
Adra1a |
C |
T |
14: 66,965,183 (GRCm39) |
T391I |
probably benign |
Het |
Atf7ip |
C |
A |
6: 136,583,812 (GRCm39) |
A1281D |
probably damaging |
Het |
BC005624 |
T |
C |
2: 30,866,023 (GRCm39) |
N141S |
probably benign |
Het |
Cavin2 |
C |
T |
1: 51,328,998 (GRCm39) |
R152C |
probably damaging |
Het |
Ccdc33 |
C |
T |
9: 57,940,489 (GRCm39) |
|
probably benign |
Het |
Cfap43 |
T |
C |
19: 47,784,135 (GRCm39) |
D466G |
probably benign |
Het |
Cfap46 |
C |
A |
7: 139,230,858 (GRCm39) |
M923I |
probably damaging |
Het |
Chd1l |
T |
A |
3: 97,479,883 (GRCm39) |
K621N |
probably benign |
Het |
Cnksr1 |
A |
G |
4: 133,955,575 (GRCm39) |
|
probably benign |
Het |
Cym |
T |
C |
3: 107,127,080 (GRCm39) |
H25R |
probably benign |
Het |
Dagla |
T |
A |
19: 10,248,489 (GRCm39) |
D57V |
probably damaging |
Het |
Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
Dse |
T |
A |
10: 34,029,038 (GRCm39) |
D684V |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fbxo10 |
A |
T |
4: 45,058,760 (GRCm39) |
S326T |
probably benign |
Het |
Galntl5 |
G |
T |
5: 25,391,091 (GRCm39) |
|
probably benign |
Het |
Grm5 |
A |
G |
7: 87,453,232 (GRCm39) |
R290G |
possibly damaging |
Het |
Gtpbp3 |
A |
G |
8: 71,945,199 (GRCm39) |
T425A |
probably benign |
Het |
Hepacam2 |
A |
G |
6: 3,476,073 (GRCm39) |
I284T |
probably damaging |
Het |
Ifi205 |
A |
C |
1: 173,854,258 (GRCm39) |
|
probably null |
Het |
Irs3 |
T |
C |
5: 137,642,548 (GRCm39) |
T297A |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
T |
A |
1: 40,039,036 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
T |
C |
1: 52,697,542 (GRCm39) |
S782G |
probably benign |
Het |
Mis18a |
G |
A |
16: 90,523,969 (GRCm39) |
|
silent |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,181,182 (GRCm39) |
|
probably null |
Het |
Ntaq1 |
A |
G |
15: 58,017,056 (GRCm39) |
N157S |
probably benign |
Het |
Or13a1 |
A |
T |
6: 116,470,900 (GRCm39) |
E110V |
probably damaging |
Het |
Or5g25 |
A |
G |
2: 85,478,239 (GRCm39) |
V142A |
probably benign |
Het |
Pde3b |
C |
T |
7: 114,108,106 (GRCm39) |
T568I |
probably benign |
Het |
Pip4p1 |
T |
C |
14: 51,166,499 (GRCm39) |
T160A |
probably benign |
Het |
Pkhd1 |
G |
T |
1: 20,451,685 (GRCm39) |
D2203E |
probably benign |
Het |
Ppp1r36 |
A |
G |
12: 76,473,566 (GRCm39) |
K66E |
possibly damaging |
Het |
Rfc1 |
C |
A |
5: 65,451,130 (GRCm39) |
M319I |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Runx1t1 |
T |
C |
4: 13,881,068 (GRCm39) |
V456A |
probably damaging |
Het |
Rxfp2 |
A |
G |
5: 149,966,589 (GRCm39) |
K109R |
probably benign |
Het |
Sgo2a |
T |
G |
1: 58,055,556 (GRCm39) |
V580G |
probably damaging |
Het |
Skint9 |
T |
C |
4: 112,271,080 (GRCm39) |
Q110R |
probably benign |
Het |
Slc38a9 |
A |
G |
13: 112,868,035 (GRCm39) |
Y507C |
probably damaging |
Het |
Smarca4 |
T |
A |
9: 21,589,238 (GRCm39) |
|
probably benign |
Het |
Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tns3 |
A |
C |
11: 8,384,580 (GRCm39) |
F1413V |
probably damaging |
Het |
Trpm8 |
T |
C |
1: 88,312,433 (GRCm39) |
*1105Q |
probably null |
Het |
Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
Zim1 |
T |
C |
7: 6,681,115 (GRCm39) |
R183G |
probably benign |
Het |
Zmiz1 |
T |
C |
14: 25,657,354 (GRCm39) |
S871P |
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 |
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'- AACATTGTCCTCTTTCGAACCAG -3'
(R):5'- ACTGTGACTACAAGCTCACC -3'
Sequencing Primer
(F):5'- GTCCTCTTTCGAACCAGCTCTG -3'
(R):5'- ACCTTTATAGTGCACATCCATGGG -3'
|
Posted On |
2016-12-20 |