Incidental Mutation 'RF004:Atp2c2'
| ID |
602694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2c2
|
| Ensembl Gene |
ENSMUSG00000034112 |
| Gene Name |
ATPase, Ca++ transporting, type 2C, member 2 |
| Synonyms |
1810010G06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120426748-120484456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120479561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 726
(N726Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095171]
|
| AlphaFold |
A7L9Z8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095171
AA Change: N726Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: N726Y
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
54 |
128 |
1.27e-12 |
SMART |
|
Pfam:E1-E2_ATPase
|
133 |
366 |
1.7e-62 |
PFAM |
|
Pfam:Hydrolase
|
371 |
684 |
5.3e-18 |
PFAM |
|
Pfam:HAD
|
374 |
681 |
7.4e-11 |
PFAM |
|
Pfam:Cation_ATPase
|
437 |
521 |
1.1e-17 |
PFAM |
|
Pfam:Cation_ATPase_C
|
754 |
927 |
1.1e-47 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
A |
19: 21,575,645 (GRCm39) |
H126L |
probably benign |
Het |
| 4930407I10Rik |
A |
T |
15: 81,943,550 (GRCm39) |
Q54L |
possibly damaging |
Het |
| 4930433I11Rik |
AACC |
A |
7: 40,642,479 (GRCm39) |
|
probably benign |
Het |
| Adora2a |
A |
T |
10: 75,168,988 (GRCm39) |
T151S |
probably benign |
Het |
| Ankhd1 |
GCGGCG |
GCGGCGTCGGCG |
18: 36,693,963 (GRCm39) |
|
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,612,411 (GRCm39) |
K1248E |
possibly damaging |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| Arl11 |
T |
C |
14: 61,548,304 (GRCm39) |
V38A |
probably damaging |
Het |
| Bcat1 |
T |
C |
6: 144,953,349 (GRCm39) |
K413R |
probably benign |
Het |
| Cd244a |
C |
G |
1: 171,405,490 (GRCm39) |
Q292E |
probably benign |
Het |
| Chp1 |
T |
A |
2: 119,411,195 (GRCm39) |
D123E |
probably damaging |
Het |
| Cpeb4 |
ACTCT |
ACTCTCT |
11: 31,877,634 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
A |
G |
9: 44,535,789 (GRCm39) |
T173A |
possibly damaging |
Het |
| Dlg2 |
T |
A |
7: 90,501,885 (GRCm39) |
C66S |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,328,013 (GRCm39) |
Q3370L |
probably benign |
Het |
| Dnmt1 |
GCACAGTTCCTACCTCGTT |
GCACAGTTCCTACCTCGTTTTGGGGGCGGAACACAGTTCCTACCTCGTT |
9: 20,821,423 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,436,244 (GRCm39) |
V2420A |
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,118 (GRCm39) |
|
probably benign |
Het |
| Igkv6-25 |
TTGACGGA |
T |
6: 70,192,647 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
G |
A |
7: 80,370,623 (GRCm39) |
A1582V |
probably benign |
Het |
| Lmnb1 |
T |
C |
18: 56,864,046 (GRCm39) |
I217T |
possibly damaging |
Het |
| Mamld1 |
CAG |
CAGTAG |
X: 70,162,437 (GRCm39) |
|
probably null |
Het |
| Map2k2 |
A |
T |
10: 80,951,002 (GRCm39) |
H149L |
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,390 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nxph2 |
G |
A |
2: 23,290,080 (GRCm39) |
R144Q |
probably damaging |
Het |
| Or2t48 |
CA |
C |
11: 58,419,983 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
T |
TTAG |
7: 102,747,516 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
GTTAT |
GTTATTAT |
7: 102,747,512 (GRCm39) |
|
|
Het |
| Or51f1e |
AT |
ATTCT |
7: 102,747,515 (GRCm39) |
|
probably benign |
Het |
| Or51q1 |
TCC |
TCCC |
7: 103,629,110 (GRCm39) |
|
probably null |
Het |
| Or52n20 |
A |
G |
7: 104,320,248 (GRCm39) |
E113G |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,114 (GRCm39) |
F235L |
probably benign |
Het |
| Padi4 |
A |
T |
4: 140,487,269 (GRCm39) |
V211E |
probably damaging |
Het |
| Prdm10 |
A |
C |
9: 31,270,422 (GRCm39) |
D902A |
probably damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,398 (GRCm39) |
D171G |
probably damaging |
Het |
| Rasal3 |
A |
T |
17: 32,610,081 (GRCm39) |
N1035K |
probably damaging |
Het |
| Rassf6 |
GGTCCTGTAGAGCAATGGGGATTC |
GGTCCTGTAGAGCAATGGGGATTCTGCATCACTCATTGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,778 (GRCm39) |
|
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,388,931 (GRCm39) |
V320A |
probably damaging |
Het |
| S1pr1 |
A |
T |
3: 115,506,536 (GRCm39) |
Y19* |
probably null |
Het |
| Slc22a16 |
A |
C |
10: 40,479,642 (GRCm39) |
L571F |
possibly damaging |
Het |
| Smarca2 |
CAGC |
CAGCCCAAGC |
19: 26,608,420 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
A |
T |
3: 146,132,195 (GRCm39) |
K219* |
probably null |
Het |
| Trav15-2-dv6-2 |
AAG |
AAGCAG |
14: 53,887,212 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GGGAG |
GGGAGGAG |
14: 53,887,207 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GAA |
GAATAA |
14: 53,887,211 (GRCm39) |
|
probably null |
Het |
| Tsen15 |
A |
G |
1: 152,259,470 (GRCm39) |
V63A |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Usp54 |
T |
A |
14: 20,611,368 (GRCm39) |
E1149D |
possibly damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,686 (GRCm39) |
S392R |
probably damaging |
Het |
| Wdr97 |
GAGGAGGA |
G |
15: 76,247,373 (GRCm39) |
|
probably null |
Het |
| Zfp663 |
G |
T |
2: 165,200,363 (GRCm39) |
H72Q |
probably benign |
Het |
| Zfp683 |
TGTGG |
TGTGGTGG |
4: 133,786,185 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Atp2c2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Atp2c2
|
APN |
8 |
120,472,329 (GRCm39) |
missense |
probably benign |
|
|
IGL01624:Atp2c2
|
APN |
8 |
120,484,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02133:Atp2c2
|
APN |
8 |
120,481,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02221:Atp2c2
|
APN |
8 |
120,471,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02606:Atp2c2
|
APN |
8 |
120,457,013 (GRCm39) |
missense |
probably benign |
|
|
IGL02657:Atp2c2
|
APN |
8 |
120,479,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02839:Atp2c2
|
APN |
8 |
120,475,859 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03122:Atp2c2
|
APN |
8 |
120,469,414 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0031:Atp2c2
|
UTSW |
8 |
120,475,801 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0372:Atp2c2
|
UTSW |
8 |
120,484,180 (GRCm39) |
missense |
probably benign |
|
|
R0502:Atp2c2
|
UTSW |
8 |
120,461,316 (GRCm39) |
missense |
probably null |
0.99 |
|
R0503:Atp2c2
|
UTSW |
8 |
120,461,316 (GRCm39) |
missense |
probably null |
0.99 |
|
R0584:Atp2c2
|
UTSW |
8 |
120,465,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1225:Atp2c2
|
UTSW |
8 |
120,461,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1580:Atp2c2
|
UTSW |
8 |
120,479,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1620:Atp2c2
|
UTSW |
8 |
120,475,865 (GRCm39) |
missense |
probably benign |
|
|
R1638:Atp2c2
|
UTSW |
8 |
120,482,742 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1745:Atp2c2
|
UTSW |
8 |
120,451,833 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1746:Atp2c2
|
UTSW |
8 |
120,461,182 (GRCm39) |
unclassified |
probably benign |
|
|
R1907:Atp2c2
|
UTSW |
8 |
120,476,615 (GRCm39) |
splice site |
probably benign |
|
|
R2104:Atp2c2
|
UTSW |
8 |
120,476,584 (GRCm39) |
missense |
probably benign |
|
|
R2151:Atp2c2
|
UTSW |
8 |
120,482,841 (GRCm39) |
missense |
probably benign |
|
|
R2152:Atp2c2
|
UTSW |
8 |
120,482,841 (GRCm39) |
missense |
probably benign |
|
|
R2154:Atp2c2
|
UTSW |
8 |
120,482,841 (GRCm39) |
missense |
probably benign |
|
|
R2207:Atp2c2
|
UTSW |
8 |
120,475,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Atp2c2
|
UTSW |
8 |
120,462,035 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3912:Atp2c2
|
UTSW |
8 |
120,448,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Atp2c2
|
UTSW |
8 |
120,476,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4782:Atp2c2
|
UTSW |
8 |
120,475,891 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4801:Atp2c2
|
UTSW |
8 |
120,474,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Atp2c2
|
UTSW |
8 |
120,481,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5485:Atp2c2
|
UTSW |
8 |
120,479,801 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5978:Atp2c2
|
UTSW |
8 |
120,476,614 (GRCm39) |
splice site |
probably null |
|
|
R6377:Atp2c2
|
UTSW |
8 |
120,453,093 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6613:Atp2c2
|
UTSW |
8 |
120,482,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6765:Atp2c2
|
UTSW |
8 |
120,479,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6836:Atp2c2
|
UTSW |
8 |
120,461,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6963:Atp2c2
|
UTSW |
8 |
120,457,006 (GRCm39) |
nonsense |
probably null |
|
|
R7220:Atp2c2
|
UTSW |
8 |
120,472,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7238:Atp2c2
|
UTSW |
8 |
120,469,160 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7373:Atp2c2
|
UTSW |
8 |
120,456,991 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7438:Atp2c2
|
UTSW |
8 |
120,474,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Atp2c2
|
UTSW |
8 |
120,478,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7677:Atp2c2
|
UTSW |
8 |
120,474,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7737:Atp2c2
|
UTSW |
8 |
120,469,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7912:Atp2c2
|
UTSW |
8 |
120,456,917 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8821:Atp2c2
|
UTSW |
8 |
120,476,033 (GRCm39) |
splice site |
probably null |
|
|
R8831:Atp2c2
|
UTSW |
8 |
120,476,033 (GRCm39) |
splice site |
probably null |
|
|
R9200:Atp2c2
|
UTSW |
8 |
120,474,999 (GRCm39) |
nonsense |
probably null |
|
|
R9211:Atp2c2
|
UTSW |
8 |
120,446,032 (GRCm39) |
missense |
probably benign |
|
|
R9246:Atp2c2
|
UTSW |
8 |
120,456,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9285:Atp2c2
|
UTSW |
8 |
120,465,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF012:Atp2c2
|
UTSW |
8 |
120,472,253 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Atp2c2
|
UTSW |
8 |
120,461,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACACCCTAAGCACAGGTGG -3'
(R):5'- AGGATCTGCATGGCGTTGAG -3'
Sequencing Primer
(F):5'- CAGGGGTCACACACATGATTTGC -3'
(R):5'- CATGGCGTTGAGGGGGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation