Incidental Mutation 'PIT4402001:Slc8a2'
ID |
555520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc8a2
|
Ensembl Gene |
ENSMUSG00000030376 |
Gene Name |
solute carrier family 8 (sodium/calcium exchanger), member 2 |
Synonyms |
Ncx2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
PIT4402001 (G1)
|
Quality Score |
179.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
15863751-15894988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 15868419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 217
(A217E)
|
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: A217E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128926 Gene: ENSMUSG00000030376 AA Change: A217E
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: A217E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.3%
- 10x: 83.2%
- 20x: 68.1%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
T |
G |
14: 59,380,084 (GRCm39) |
L71F |
probably damaging |
Het |
Adamts9 |
C |
T |
6: 92,849,328 (GRCm39) |
V1044I |
probably benign |
Het |
Alcam |
T |
C |
16: 52,115,497 (GRCm39) |
Y207C |
probably damaging |
Het |
Aldh4a1 |
C |
A |
4: 139,369,502 (GRCm39) |
S351* |
probably null |
Het |
Aoah |
C |
A |
13: 20,978,680 (GRCm39) |
S39R |
probably benign |
Het |
Arcn1 |
A |
T |
9: 44,656,899 (GRCm39) |
V421E |
possibly damaging |
Het |
Ccdc18 |
A |
G |
5: 108,306,485 (GRCm39) |
E300G |
possibly damaging |
Het |
Cdk2ap2 |
C |
A |
19: 4,148,557 (GRCm39) |
R126S |
probably damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,668,276 (GRCm39) |
I39V |
probably benign |
Het |
Fam53b |
A |
T |
7: 132,361,746 (GRCm39) |
I94N |
probably damaging |
Het |
Fam83g |
A |
G |
11: 61,594,422 (GRCm39) |
H652R |
probably damaging |
Het |
Fanca |
A |
T |
8: 124,039,803 (GRCm39) |
M157K |
possibly damaging |
Het |
Flt1 |
A |
T |
5: 147,615,049 (GRCm39) |
I299N |
probably damaging |
Het |
Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
Gns |
A |
G |
10: 121,212,611 (GRCm39) |
Y191C |
probably damaging |
Het |
Grin2a |
T |
C |
16: 9,462,063 (GRCm39) |
T690A |
possibly damaging |
Het |
Gsk3b |
C |
T |
16: 37,909,763 (GRCm39) |
|
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,233,000 (GRCm39) |
V1911A |
probably benign |
Het |
Igsf3 |
A |
G |
3: 101,334,393 (GRCm39) |
K157E |
probably benign |
Het |
Inpp5a |
T |
C |
7: 139,091,369 (GRCm39) |
Y118H |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,752,359 (GRCm39) |
V1413A |
unknown |
Het |
Mettl9 |
T |
A |
7: 120,656,440 (GRCm39) |
V190E |
probably damaging |
Het |
Mrps9 |
T |
C |
1: 42,935,258 (GRCm39) |
L188P |
probably benign |
Het |
Myo9a |
A |
T |
9: 59,777,719 (GRCm39) |
R1158S |
possibly damaging |
Het |
Nacad |
T |
G |
11: 6,548,621 (GRCm39) |
Q1371P |
probably benign |
Het |
Ncoa1 |
T |
C |
12: 4,344,987 (GRCm39) |
M787V |
probably benign |
Het |
Noxred1 |
A |
T |
12: 87,273,855 (GRCm39) |
I62K |
probably benign |
Het |
Or1j4 |
A |
T |
2: 36,740,316 (GRCm39) |
H86L |
probably benign |
Het |
Or2d3b |
T |
A |
7: 106,514,294 (GRCm39) |
D296E |
possibly damaging |
Het |
Or2y17 |
A |
G |
11: 49,232,226 (GRCm39) |
Y289C |
probably damaging |
Het |
Or52d1 |
A |
G |
7: 103,755,657 (GRCm39) |
Y57C |
probably damaging |
Het |
Otud6b |
A |
G |
4: 14,818,185 (GRCm39) |
Y239H |
probably damaging |
Het |
Pank1 |
A |
G |
19: 34,818,366 (GRCm39) |
Y233H |
probably damaging |
Het |
Pccb |
G |
T |
9: 100,877,645 (GRCm39) |
D286E |
probably benign |
Het |
Plek |
A |
C |
11: 16,940,121 (GRCm39) |
L196R |
probably benign |
Het |
Pou6f2 |
T |
C |
13: 18,299,931 (GRCm39) |
H576R |
|
Het |
Rbm47 |
T |
A |
5: 66,184,354 (GRCm39) |
Y83F |
probably damaging |
Het |
Rbm6 |
A |
T |
9: 107,665,049 (GRCm39) |
Y787N |
probably damaging |
Het |
Suox |
G |
A |
10: 128,507,164 (GRCm39) |
A288V |
probably damaging |
Het |
Tbccd1 |
T |
C |
16: 22,640,873 (GRCm39) |
I501M |
probably damaging |
Het |
Tjp2 |
C |
A |
19: 24,075,493 (GRCm39) |
G1042* |
probably null |
Het |
Tmtc2 |
T |
C |
10: 105,249,268 (GRCm39) |
Y155C |
probably damaging |
Het |
Usp7 |
T |
C |
16: 8,516,359 (GRCm39) |
N600S |
probably benign |
Het |
Zer1 |
T |
C |
2: 29,991,132 (GRCm39) |
I699V |
probably damaging |
Het |
Zfp142 |
A |
G |
1: 74,618,687 (GRCm39) |
F227S |
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 |
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 |
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'- TCTGTGGCCACAACTTCCAG -3'
(R):5'- GAGCTCTATCTGTACCTGCAG -3'
Sequencing Primer
(F):5'- ACAACTTCCAGGCCGGTGAG -3'
(R):5'- GTACCTGCAGTCTTGACTTGCTG -3'
|
Posted On |
2019-06-07 |