Incidental Mutation 'R7227:Slc8a2'
| ID |
562222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc8a2
|
| Ensembl Gene |
ENSMUSG00000030376 |
| Gene Name |
solute carrier family 8 (sodium/calcium exchanger), member 2 |
| Synonyms |
Ncx2 |
| MMRRC Submission |
045299-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R7227 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15863751-15894988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15878906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 464
(I464T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168693]
[ENSMUST00000211649]
|
| AlphaFold |
Q8K596 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168693
AA Change: I464T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128926
Gene: ENSMUSG00000030376
AA Change: I464T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
74 |
245 |
8.6e-35 |
PFAM |
|
Pfam:Na_Ca_ex_C
|
248 |
378 |
7.8e-50 |
PFAM |
|
Calx_beta
|
383 |
483 |
3.27e-47 |
SMART |
|
Calx_beta
|
512 |
612 |
3.37e-49 |
SMART |
|
low complexity region
|
704 |
717 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
747 |
912 |
2.5e-27 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211649
AA Change: I464T
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
97% (57/59) |
| MGI Phenotype |
PHENOTYPE: The clearance of elevated calcium following depolarization is delayed in homozygous mutant mice, which exhibit enhanced learning and memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 130,952,449 (GRCm39) |
L344H |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,875,593 (GRCm39) |
S589T |
probably damaging |
Het |
| Acsm2 |
A |
C |
7: 119,190,556 (GRCm39) |
I520L |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,200,784 (GRCm39) |
Y544H |
probably damaging |
Het |
| Ascc1 |
T |
A |
10: 59,843,560 (GRCm39) |
Y41N |
probably benign |
Het |
| Bend3 |
T |
A |
10: 43,387,401 (GRCm39) |
L598Q |
probably damaging |
Het |
| Cfap74 |
T |
G |
4: 155,545,405 (GRCm39) |
Y1108* |
probably null |
Het |
| Cxcl17 |
C |
A |
7: 25,102,319 (GRCm39) |
R41S |
probably damaging |
Het |
| Cyp2c69 |
C |
A |
19: 39,869,610 (GRCm39) |
M136I |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,312,222 (GRCm39) |
Y4370H |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,771,932 (GRCm39) |
Q579L |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,693,742 (GRCm39) |
M195I |
unknown |
Het |
| Esyt2 |
A |
G |
12: 116,305,745 (GRCm39) |
D325G |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,463,646 (GRCm39) |
I1396S |
probably benign |
Het |
| Gigyf1 |
T |
A |
5: 137,522,085 (GRCm39) |
I661K |
unknown |
Het |
| Gja1 |
T |
A |
10: 56,263,752 (GRCm39) |
L37Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,310,387 (GRCm39) |
S876P |
probably benign |
Het |
| Hk3 |
C |
T |
13: 55,160,053 (GRCm39) |
R362H |
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,027,330 (GRCm39) |
M53K |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,298,631 (GRCm39) |
S137P |
probably benign |
Het |
| Kremen2 |
G |
T |
17: 23,963,573 (GRCm39) |
Y70* |
probably null |
Het |
| Lag3 |
C |
T |
6: 124,885,457 (GRCm39) |
G308S |
possibly damaging |
Het |
| Mab21l4 |
G |
T |
1: 93,079,736 (GRCm39) |
N451K |
probably benign |
Het |
| Map4k2 |
T |
A |
19: 6,396,624 (GRCm39) |
L542Q |
probably damaging |
Het |
| Mef2d |
G |
A |
3: 88,065,514 (GRCm39) |
|
probably null |
Het |
| Mkrn3 |
C |
A |
7: 62,069,415 (GRCm39) |
R125S |
probably benign |
Het |
| Mpp3 |
T |
A |
11: 101,895,904 (GRCm39) |
Y457F |
possibly damaging |
Het |
| Mrpl12 |
T |
A |
11: 120,379,178 (GRCm39) |
I175N |
probably damaging |
Het |
| Mybbp1a |
G |
T |
11: 72,338,585 (GRCm39) |
K728N |
possibly damaging |
Het |
| Nfkb1 |
C |
T |
3: 135,332,420 (GRCm39) |
V112M |
probably damaging |
Het |
| Nucb2 |
A |
T |
7: 116,125,311 (GRCm39) |
D123V |
probably damaging |
Het |
| Or12j2 |
A |
G |
7: 139,915,534 (GRCm39) |
|
probably benign |
Het |
| Orc3 |
T |
C |
4: 34,572,542 (GRCm39) |
T629A |
probably benign |
Het |
| Pdk1 |
T |
A |
2: 71,714,245 (GRCm39) |
N218K |
possibly damaging |
Het |
| Plce1 |
A |
G |
19: 38,715,346 (GRCm39) |
T1298A |
probably benign |
Het |
| Ppan |
T |
A |
9: 20,799,496 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
C |
T |
3: 138,663,228 (GRCm39) |
G373R |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,582,367 (GRCm39) |
I1572L |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,328,935 (GRCm39) |
Y1027N |
probably benign |
Het |
| Serpinb3a |
T |
A |
1: 106,979,359 (GRCm39) |
T48S |
probably damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,195,032 (GRCm39) |
M264V |
probably benign |
Het |
| Slc44a3 |
A |
T |
3: 121,303,879 (GRCm39) |
C286S |
possibly damaging |
Het |
| Smco1 |
T |
C |
16: 32,092,833 (GRCm39) |
M168T |
possibly damaging |
Het |
| Spns2 |
A |
T |
11: 72,349,513 (GRCm39) |
Y246* |
probably null |
Het |
| Ssbp2 |
T |
C |
13: 91,823,244 (GRCm39) |
M213T |
probably benign |
Het |
| Stk40 |
G |
T |
4: 126,017,559 (GRCm39) |
A29S |
probably benign |
Het |
| Thrap3 |
A |
T |
4: 126,067,296 (GRCm39) |
F683I |
probably damaging |
Het |
| Tmc5 |
A |
G |
7: 118,269,889 (GRCm39) |
T880A |
possibly damaging |
Het |
| Trim38 |
T |
A |
13: 23,969,946 (GRCm39) |
N168K |
possibly damaging |
Het |
| Ube2d1 |
T |
A |
10: 71,091,702 (GRCm39) |
Y134F |
possibly damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,475 (GRCm39) |
Y246* |
probably null |
Het |
| Vmn2r18 |
T |
C |
5: 151,496,264 (GRCm39) |
T485A |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,738,974 (GRCm39) |
I1285F |
probably damaging |
Het |
| Xrcc1 |
C |
A |
7: 24,246,757 (GRCm39) |
H8Q |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,413 (GRCm39) |
V317A |
probably benign |
Het |
|
| Other mutations in Slc8a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01778:Slc8a2
|
APN |
7 |
15,892,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Slc8a2
|
APN |
7 |
15,891,081 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02744:Slc8a2
|
APN |
7 |
15,878,954 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
PIT4402001:Slc8a2
|
UTSW |
7 |
15,868,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Slc8a2
|
UTSW |
7 |
15,874,504 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0281:Slc8a2
|
UTSW |
7 |
15,874,914 (GRCm39) |
missense |
probably benign |
|
|
R0513:Slc8a2
|
UTSW |
7 |
15,891,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0811:Slc8a2
|
UTSW |
7 |
15,875,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Slc8a2
|
UTSW |
7 |
15,875,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0940:Slc8a2
|
UTSW |
7 |
15,878,887 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1167:Slc8a2
|
UTSW |
7 |
15,891,312 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1508:Slc8a2
|
UTSW |
7 |
15,874,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1655:Slc8a2
|
UTSW |
7 |
15,875,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Slc8a2
|
UTSW |
7 |
15,886,845 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1919:Slc8a2
|
UTSW |
7 |
15,886,845 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2051:Slc8a2
|
UTSW |
7 |
15,874,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2083:Slc8a2
|
UTSW |
7 |
15,868,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Slc8a2
|
UTSW |
7 |
15,874,417 (GRCm39) |
splice site |
probably null |
|
|
R2149:Slc8a2
|
UTSW |
7 |
15,893,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3437:Slc8a2
|
UTSW |
7 |
15,892,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3618:Slc8a2
|
UTSW |
7 |
15,886,824 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4645:Slc8a2
|
UTSW |
7 |
15,868,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4741:Slc8a2
|
UTSW |
7 |
15,868,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Slc8a2
|
UTSW |
7 |
15,868,100 (GRCm39) |
nonsense |
probably null |
|
|
R5071:Slc8a2
|
UTSW |
7 |
15,884,508 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5072:Slc8a2
|
UTSW |
7 |
15,884,508 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5074:Slc8a2
|
UTSW |
7 |
15,884,508 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5150:Slc8a2
|
UTSW |
7 |
15,879,101 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5358:Slc8a2
|
UTSW |
7 |
15,891,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Slc8a2
|
UTSW |
7 |
15,868,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Slc8a2
|
UTSW |
7 |
15,879,209 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6273:Slc8a2
|
UTSW |
7 |
15,879,259 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6363:Slc8a2
|
UTSW |
7 |
15,867,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6881:Slc8a2
|
UTSW |
7 |
15,891,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Slc8a2
|
UTSW |
7 |
15,878,963 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7211:Slc8a2
|
UTSW |
7 |
15,874,538 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7278:Slc8a2
|
UTSW |
7 |
15,875,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Slc8a2
|
UTSW |
7 |
15,868,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8239:Slc8a2
|
UTSW |
7 |
15,879,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8698:Slc8a2
|
UTSW |
7 |
15,891,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8926:Slc8a2
|
UTSW |
7 |
15,868,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Slc8a2
|
UTSW |
7 |
15,891,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9483:Slc8a2
|
UTSW |
7 |
15,886,780 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9530:Slc8a2
|
UTSW |
7 |
15,879,269 (GRCm39) |
missense |
probably null |
0.86 |
|
R9778:Slc8a2
|
UTSW |
7 |
15,887,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc8a2
|
UTSW |
7 |
15,874,912 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTCAGCAGATACTAAGGGAAC -3'
(R):5'- TCCTGGAAGGAGAAGATGCC -3'
Sequencing Primer
(F):5'- ACTGGCTGCTCTTCCAAAAGG -3'
(R):5'- AGAAGATGCCCGCGTGGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation