Incidental Mutation 'R9530:Slc8a2'
| ID |
719435 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R9530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
15863751-15894988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15879269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 585
(D585G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168693]
[ENSMUST00000211649]
|
| AlphaFold |
Q8K596 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168693
AA Change: D585G
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000128926
Gene: ENSMUSG00000030376
AA Change: D585G
| 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 null
Transcript: ENSMUST00000211649
AA Change: D585G
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,165 (GRCm39) |
N96S |
possibly damaging |
Het |
| Acsl6 |
C |
T |
11: 54,220,783 (GRCm39) |
T301I |
probably damaging |
Het |
| Ankrd7 |
C |
A |
6: 18,868,258 (GRCm39) |
Q127K |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,064,612 (GRCm39) |
M155V |
probably benign |
Het |
| Appbp2 |
A |
C |
11: 85,107,306 (GRCm39) |
C61W |
probably damaging |
Het |
| Atosb |
C |
T |
4: 43,034,753 (GRCm39) |
R322Q |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
| Cd163 |
G |
T |
6: 124,294,491 (GRCm39) |
E550* |
probably null |
Het |
| Cdh2 |
A |
G |
18: 16,783,466 (GRCm39) |
Y88H |
probably damaging |
Het |
| Cyp2c69 |
A |
G |
19: 39,848,311 (GRCm39) |
S304P |
possibly damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,175,411 (GRCm39) |
I922T |
possibly damaging |
Het |
| Erbb3 |
T |
C |
10: 128,410,291 (GRCm39) |
I656V |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,248,910 (GRCm39) |
I1363K |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,963,069 (GRCm39) |
V201A |
probably benign |
Het |
| Heatr1 |
G |
A |
13: 12,439,607 (GRCm39) |
R1395H |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,126,382 (GRCm39) |
I578T |
probably benign |
Het |
| Herc6 |
T |
A |
6: 57,602,899 (GRCm39) |
L526* |
probably null |
Het |
| Ighv5-9 |
A |
G |
12: 113,625,677 (GRCm39) |
M22T |
probably benign |
Het |
| Klhl36 |
A |
G |
8: 120,591,808 (GRCm39) |
E17G |
possibly damaging |
Het |
| Mast2 |
A |
C |
4: 116,169,535 (GRCm39) |
L766R |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,030,124 (GRCm39) |
V420M |
probably benign |
Het |
| Met |
T |
C |
6: 17,558,831 (GRCm39) |
V1153A |
probably damaging |
Het |
| Mrpl21 |
T |
A |
19: 3,340,998 (GRCm39) |
I196N |
possibly damaging |
Het |
| Or7g21 |
G |
A |
9: 19,033,051 (GRCm39) |
V264I |
probably benign |
Het |
| Polrmt |
C |
T |
10: 79,574,545 (GRCm39) |
A883T |
probably benign |
Het |
| Prkcg |
G |
A |
7: 3,375,965 (GRCm39) |
D537N |
possibly damaging |
Het |
| Rpap3 |
A |
T |
15: 97,579,655 (GRCm39) |
D452E |
probably benign |
Het |
| St18 |
T |
A |
1: 6,872,997 (GRCm39) |
I244N |
probably benign |
Het |
| Stat1 |
T |
A |
1: 52,187,160 (GRCm39) |
|
probably null |
Het |
| Stk39 |
A |
G |
2: 68,198,755 (GRCm39) |
Y288H |
probably damaging |
Het |
| Tas2r140 |
G |
A |
6: 133,032,494 (GRCm39) |
S88F |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 56,072,507 (GRCm39) |
E308G |
probably damaging |
Het |
| Tcf7l1 |
T |
C |
6: 72,604,687 (GRCm39) |
T486A |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,343,817 (GRCm39) |
T42A |
possibly damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,779,793 (GRCm39) |
T297A |
possibly damaging |
Het |
| Triobp |
G |
C |
15: 78,886,321 (GRCm39) |
G1867R |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,104 (GRCm39) |
H6R |
probably damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,562 (GRCm39) |
I7N |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,639 (GRCm39) |
S294T |
probably benign |
Het |
| Yjefn3 |
A |
G |
8: 70,340,633 (GRCm39) |
V197A |
probably benign |
Het |
| Zcchc4 |
CAGAG |
CAG |
5: 52,953,568 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,527,010 (GRCm39) |
E969G |
probably damaging |
Het |
| Zfp112 |
G |
T |
7: 23,824,665 (GRCm39) |
C215F |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,420,514 (GRCm39) |
L145Q |
probably 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 |
|
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 |
|
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 |
|
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'- TGAGCACTTCTTCGTGAGGC -3'
(R):5'- CTATCGCCTGCTAGGGTTATTC -3'
Sequencing Primer
(F):5'- TCTTCGTGAGGCTGCTGAACC -3'
(R):5'- TCTGTAGACCAGGCTCACAGAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation