Incidental Mutation 'R1508:Slc8a2'
ID |
168062 |
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 |
040869-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R1508 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
15863751-15894988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15874522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 257
(Y257H)
|
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: Y257H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000128926 Gene: ENSMUSG00000030376 AA Change: Y257H
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 benign
Transcript: ENSMUST00000211649
AA Change: Y257H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl4 |
T |
C |
4: 111,513,595 (GRCm39) |
I447T |
probably benign |
Het |
Albfm1 |
A |
G |
5: 90,729,780 (GRCm39) |
E401G |
probably benign |
Het |
Alpk2 |
C |
A |
18: 65,482,376 (GRCm39) |
G544V |
probably damaging |
Het |
Apob |
T |
C |
12: 8,061,481 (GRCm39) |
I3321T |
possibly damaging |
Het |
Ccdc47 |
C |
T |
11: 106,093,242 (GRCm39) |
D70N |
probably damaging |
Het |
Ceacam13 |
T |
A |
7: 17,744,996 (GRCm39) |
V22D |
possibly damaging |
Het |
Cep76 |
A |
G |
18: 67,756,358 (GRCm39) |
M491T |
probably damaging |
Het |
Clec4a3 |
A |
T |
6: 122,944,467 (GRCm39) |
N171I |
probably benign |
Het |
Col20a1 |
A |
G |
2: 180,634,370 (GRCm39) |
I112V |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,433,557 (GRCm39) |
L1462H |
unknown |
Het |
Cubn |
A |
G |
2: 13,431,916 (GRCm39) |
F1226L |
probably benign |
Het |
Cyp4a31 |
T |
A |
4: 115,422,250 (GRCm39) |
I77K |
possibly damaging |
Het |
Dcaf1 |
A |
T |
9: 106,731,376 (GRCm39) |
T618S |
probably damaging |
Het |
Echdc3 |
A |
T |
2: 6,211,231 (GRCm39) |
S129T |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,601,503 (GRCm39) |
V272A |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,479,899 (GRCm39) |
F2982L |
probably benign |
Het |
Gm9476 |
A |
T |
10: 100,142,700 (GRCm39) |
|
noncoding transcript |
Het |
Golga1 |
A |
G |
2: 38,913,261 (GRCm39) |
M542T |
probably benign |
Het |
H2-D1 |
T |
A |
17: 35,482,844 (GRCm39) |
C125S |
probably damaging |
Het |
Jazf1 |
G |
A |
6: 52,789,166 (GRCm39) |
H103Y |
probably damaging |
Het |
Klhl12 |
T |
C |
1: 134,416,712 (GRCm39) |
V478A |
possibly damaging |
Het |
Lpcat2b |
A |
T |
5: 107,581,330 (GRCm39) |
T220S |
probably damaging |
Het |
Myocd |
C |
T |
11: 65,075,342 (GRCm39) |
C594Y |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,331,735 (GRCm39) |
E700G |
probably damaging |
Het |
Or52z15 |
T |
C |
7: 103,332,678 (GRCm39) |
V251A |
possibly damaging |
Het |
Or6k2 |
T |
A |
1: 173,986,930 (GRCm39) |
M197K |
possibly damaging |
Het |
Papln |
A |
G |
12: 83,829,690 (GRCm39) |
Q937R |
probably damaging |
Het |
Pex14 |
T |
C |
4: 149,052,029 (GRCm39) |
R147G |
probably damaging |
Het |
Plppr3 |
A |
T |
10: 79,703,374 (GRCm39) |
Y37N |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,955,654 (GRCm39) |
T522A |
probably benign |
Het |
Ppp3cb |
T |
C |
14: 20,574,492 (GRCm39) |
N201S |
probably damaging |
Het |
Prf1 |
A |
G |
10: 61,139,329 (GRCm39) |
D429G |
probably damaging |
Het |
Ptprn2 |
T |
C |
12: 117,148,342 (GRCm39) |
S701P |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,268,341 (GRCm39) |
T1309I |
possibly damaging |
Het |
Sipa1l1 |
T |
A |
12: 82,487,667 (GRCm39) |
M1647K |
probably damaging |
Het |
Skint11 |
T |
C |
4: 114,088,963 (GRCm39) |
|
probably null |
Het |
Slfn1 |
T |
A |
11: 83,012,181 (GRCm39) |
I99N |
probably damaging |
Het |
Slit2 |
A |
G |
5: 48,349,591 (GRCm39) |
T282A |
probably damaging |
Het |
Slit3 |
A |
T |
11: 35,461,448 (GRCm39) |
D228V |
probably damaging |
Het |
Specc1l |
A |
G |
10: 75,143,072 (GRCm39) |
N1031S |
probably benign |
Het |
Supt6 |
A |
G |
11: 78,107,029 (GRCm39) |
|
probably null |
Het |
Tdrd1 |
G |
A |
19: 56,839,790 (GRCm39) |
E617K |
probably damaging |
Het |
Tex15 |
C |
G |
8: 34,066,880 (GRCm39) |
F2103L |
probably damaging |
Het |
Trim21 |
T |
A |
7: 102,208,783 (GRCm39) |
Q312L |
possibly damaging |
Het |
Trim56 |
C |
T |
5: 137,142,791 (GRCm39) |
A242T |
probably benign |
Het |
Usp4 |
T |
C |
9: 108,249,873 (GRCm39) |
V467A |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,589,886 (GRCm39) |
I677L |
probably benign |
Het |
Vstm4 |
T |
C |
14: 32,585,511 (GRCm39) |
V26A |
probably damaging |
Het |
Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
Zfat |
T |
A |
15: 68,050,600 (GRCm39) |
K807I |
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 |
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 |
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'- TGGATATGTGGGTGGACACACAGAT -3'
(R):5'- CGGGTGCTTCTGCTTCAAGTCCTTA -3'
Sequencing Primer
(F):5'- ggacacacagatggatgtgatag -3'
(R):5'- TCTGGATGACCTCACGCC -3'
|
Posted On |
2014-04-13 |