Incidental Mutation 'R6881:Slc8a2'
| ID |
536662 |
| 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 |
045030-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R6881 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15863751-15894988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 15891282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 774
(G774E)
|
| 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: G768E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128926
Gene: ENSMUSG00000030376
AA Change: G768E
| 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 |
probably damaging
Transcript: ENSMUST00000211649
AA Change: G774E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (53/54) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
A |
C |
9: 15,202,061 (GRCm39) |
C187G |
possibly damaging |
Het |
| Abhd16a |
C |
T |
17: 35,315,577 (GRCm39) |
T208I |
probably benign |
Het |
| Ahcyl1 |
A |
T |
3: 107,575,425 (GRCm39) |
H425Q |
probably damaging |
Het |
| Ankrd22 |
T |
A |
19: 34,126,782 (GRCm39) |
N16I |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,813,483 (GRCm39) |
E1321G |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,799,028 (GRCm39) |
E35G |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,312,480 (GRCm39) |
I318V |
probably damaging |
Het |
| Clrn2 |
G |
A |
5: 45,611,164 (GRCm39) |
W4* |
probably null |
Het |
| Cmip |
T |
C |
8: 118,163,334 (GRCm39) |
I355T |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,226,800 (GRCm39) |
V2763M |
probably damaging |
Het |
| Cnnm2 |
T |
C |
19: 46,865,658 (GRCm39) |
S749P |
probably damaging |
Het |
| Cyp1a1 |
G |
T |
9: 57,608,002 (GRCm39) |
R210L |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,068,372 (GRCm39) |
S2715N |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,590,995 (GRCm39) |
L1021P |
probably damaging |
Het |
| Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
| Galnt11 |
G |
T |
5: 25,455,097 (GRCm39) |
K144N |
possibly damaging |
Het |
| Gm45861 |
A |
G |
8: 28,025,279 (GRCm39) |
|
probably null |
Het |
| Kcnk18 |
T |
A |
19: 59,208,390 (GRCm39) |
D75E |
probably benign |
Het |
| Kcnk2 |
C |
T |
1: 188,942,187 (GRCm39) |
V346M |
probably benign |
Het |
| Klhl33 |
T |
A |
14: 51,128,929 (GRCm39) |
M767L |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,925,665 (GRCm39) |
I1898T |
possibly damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,518,368 (GRCm39) |
T290A |
probably benign |
Het |
| Larp1 |
T |
A |
11: 57,940,849 (GRCm39) |
D658E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,326,246 (GRCm39) |
I3521F |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,174,586 (GRCm39) |
S1835P |
probably benign |
Het |
| Mef2c |
C |
A |
13: 83,741,061 (GRCm39) |
N73K |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,439,725 (GRCm39) |
S572G |
probably benign |
Het |
| Neto2 |
A |
T |
8: 86,367,185 (GRCm39) |
S520T |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,304 (GRCm39) |
N8S |
probably damaging |
Het |
| Or1o4 |
A |
G |
17: 37,591,200 (GRCm39) |
L37S |
probably benign |
Het |
| Or4c110 |
A |
T |
2: 88,832,281 (GRCm39) |
M117K |
probably damaging |
Het |
| P3h2 |
G |
A |
16: 25,811,495 (GRCm39) |
R243C |
probably damaging |
Het |
| Pld1 |
T |
C |
3: 28,132,563 (GRCm39) |
S584P |
possibly damaging |
Het |
| Prkcz |
T |
C |
4: 155,353,513 (GRCm39) |
N278S |
possibly damaging |
Het |
| Radil |
A |
G |
5: 142,472,672 (GRCm39) |
S913P |
probably benign |
Het |
| Retreg2 |
A |
C |
1: 75,123,083 (GRCm39) |
Q337P |
probably damaging |
Het |
| Sh3gl3 |
A |
G |
7: 81,956,178 (GRCm39) |
E305G |
possibly damaging |
Het |
| Shank1 |
G |
T |
7: 44,001,217 (GRCm39) |
D979Y |
unknown |
Het |
| Slc35a5 |
A |
T |
16: 44,964,443 (GRCm39) |
N263K |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,737,452 (GRCm38) |
M127L |
probably benign |
Het |
| Smim45 |
C |
A |
15: 82,143,786 (GRCm39) |
H3N |
possibly damaging |
Het |
| Snap91 |
A |
G |
9: 86,655,646 (GRCm39) |
S847P |
possibly damaging |
Het |
| Stoml1 |
T |
C |
9: 58,168,177 (GRCm39) |
L296P |
probably damaging |
Het |
| Tap1 |
G |
T |
17: 34,407,008 (GRCm39) |
G52V |
probably damaging |
Het |
| Tent4b |
T |
C |
8: 88,977,416 (GRCm39) |
V363A |
possibly damaging |
Het |
| Tnfrsf11b |
T |
C |
15: 54,117,539 (GRCm39) |
R239G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,536,846 (GRCm39) |
Y34993C |
probably damaging |
Het |
| Uchl1 |
T |
C |
5: 66,841,065 (GRCm39) |
F165L |
probably damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,246,776 (GRCm39) |
Q15* |
probably null |
Het |
| Zkscan7 |
C |
G |
9: 122,717,766 (GRCm39) |
Q54E |
possibly damaging |
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 |
|
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 |
|
R7227:Slc8a2
|
UTSW |
7 |
15,878,906 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
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'- AAGCCTAACACAATGGAGCTG -3'
(R):5'- ACCATTTCCTGCCACGTTAG -3'
Sequencing Primer
(F):5'- ATGATGTGTGCCCCAGCTG -3'
(R):5'- GCCACGTTAGTCCCCTGTGAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation