Incidental Mutation 'R1746:Atp2c2'
| ID |
193989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2c2
|
| Ensembl Gene |
ENSMUSG00000034112 |
| Gene Name |
ATPase, Ca++ transporting, type 2C, member 2 |
| Synonyms |
1810010G06Rik |
| MMRRC Submission |
039778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1746 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120426748-120484456 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 120461182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095171]
[ENSMUST00000212454]
|
| AlphaFold |
A7L9Z8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095171
|
| SMART Domains |
Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212454
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
A |
13: 70,927,717 (GRCm39) |
|
probably null |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,099 (GRCm39) |
T38A |
possibly damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,865,910 (GRCm39) |
E902G |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,635,588 (GRCm39) |
S227P |
possibly damaging |
Het |
| Atxn10 |
T |
C |
15: 85,260,864 (GRCm39) |
V203A |
probably damaging |
Het |
| Chd9 |
A |
C |
8: 91,737,326 (GRCm39) |
E1468D |
probably benign |
Het |
| Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
| Col4a2 |
G |
A |
8: 11,496,020 (GRCm39) |
G1547D |
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,485,179 (GRCm39) |
E270G |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dmgdh |
C |
A |
13: 93,888,933 (GRCm39) |
T857K |
probably benign |
Het |
| Ednra |
T |
G |
8: 78,398,211 (GRCm39) |
T279P |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,987,339 (GRCm39) |
I407T |
probably damaging |
Het |
| Fggy |
A |
G |
4: 95,814,965 (GRCm39) |
Y440C |
probably damaging |
Het |
| Flrt2 |
A |
T |
12: 95,747,566 (GRCm39) |
N635Y |
possibly damaging |
Het |
| Fnbp1l |
A |
G |
3: 122,350,140 (GRCm39) |
I357T |
probably benign |
Het |
| Gulp1 |
A |
G |
1: 44,793,513 (GRCm39) |
H58R |
possibly damaging |
Het |
| Hid1 |
A |
T |
11: 115,245,464 (GRCm39) |
V446E |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,897,561 (GRCm39) |
S1002P |
possibly damaging |
Het |
| Klri1 |
A |
G |
6: 129,675,118 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
C |
15: 98,762,259 (GRCm39) |
L409R |
probably damaging |
Het |
| Ltn1 |
A |
C |
16: 87,208,669 (GRCm39) |
S810A |
possibly damaging |
Het |
| Mysm1 |
G |
A |
4: 94,836,648 (GRCm39) |
Q721* |
probably null |
Het |
| Nae1 |
A |
G |
8: 105,254,017 (GRCm39) |
V105A |
possibly damaging |
Het |
| Nagpa |
C |
T |
16: 5,021,503 (GRCm39) |
V83M |
probably damaging |
Het |
| Nrg2 |
G |
A |
18: 36,154,975 (GRCm39) |
T503M |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,221,789 (GRCm39) |
M150V |
possibly damaging |
Het |
| Or5p52 |
C |
A |
7: 107,502,093 (GRCm39) |
H56Q |
probably benign |
Het |
| Or8g28 |
A |
G |
9: 39,169,498 (GRCm39) |
S157P |
probably damaging |
Het |
| Papola |
T |
A |
12: 105,773,468 (GRCm39) |
D162E |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,680,041 (GRCm39) |
|
probably null |
Het |
| Ppp1r16b |
T |
A |
2: 158,588,585 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
A |
10: 107,474,691 (GRCm39) |
E1338V |
probably damaging |
Het |
| Puf60 |
G |
A |
15: 75,942,633 (GRCm39) |
H437Y |
probably benign |
Het |
| Qsox2 |
C |
T |
2: 26,110,650 (GRCm39) |
V189I |
probably benign |
Het |
| Rad51ap2 |
A |
T |
12: 11,507,776 (GRCm39) |
D566V |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,237 (GRCm39) |
|
probably null |
Het |
| Rfpl4b |
C |
T |
10: 38,697,049 (GRCm39) |
C184Y |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rundc3a |
GAGCC |
GAGCCAGCC |
11: 102,291,739 (GRCm39) |
|
probably null |
Het |
| Scara5 |
A |
C |
14: 65,968,539 (GRCm39) |
M271L |
probably benign |
Het |
| Sel1l2 |
A |
G |
2: 140,127,157 (GRCm39) |
L118P |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,439,416 (GRCm39) |
|
probably benign |
Het |
| Siglech |
T |
A |
7: 55,418,252 (GRCm39) |
H73Q |
probably benign |
Het |
| Sim1 |
A |
G |
10: 50,860,205 (GRCm39) |
D689G |
probably benign |
Het |
| Skp2 |
T |
C |
15: 9,139,530 (GRCm39) |
E55G |
possibly damaging |
Het |
| Slc1a1 |
T |
A |
19: 28,871,869 (GRCm39) |
V114E |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,738,916 (GRCm39) |
G614D |
probably benign |
Het |
| Sptbn2 |
C |
T |
19: 4,795,992 (GRCm39) |
Q1724* |
probably null |
Het |
| Tet3 |
T |
C |
6: 83,345,050 (GRCm39) |
T1796A |
probably damaging |
Het |
| Tmem117 |
A |
C |
15: 94,829,714 (GRCm39) |
D183A |
possibly damaging |
Het |
| Trmt44 |
A |
G |
5: 35,721,403 (GRCm39) |
S587P |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,619,166 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,458,285 (GRCm39) |
V399M |
probably benign |
Het |
| Txndc2 |
T |
A |
17: 65,945,130 (GRCm39) |
D349V |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,250,915 (GRCm39) |
N1194I |
probably benign |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,329 (GRCm39) |
I53L |
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
RF004:Atp2c2
|
UTSW |
8 |
120,479,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGATCTCCTGGTGGATGAATCCAGC -3'
(R):5'- GTATGATCCCAAATCCCGTGTCCTC -3'
Sequencing Primer
(F):5'- TGGATGAATCCAGCTTCACAG -3'
(R):5'- TCCGACTTAGAACAAGTCTGGTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation