Incidental Mutation 'R4645:Slc8a2'
ID |
350166 |
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 |
041906-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
R4645 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
15863751-15894988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 15868164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 132
(T132I)
|
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: T132I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128926 Gene: ENSMUSG00000030376 AA Change: T132I
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: T132I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,635,700 (GRCm39) |
E101G |
probably damaging |
Het |
Adgrf5 |
A |
G |
17: 43,748,416 (GRCm39) |
E29G |
probably damaging |
Het |
Agfg2 |
T |
A |
5: 137,682,854 (GRCm39) |
|
probably benign |
Het |
Ap4b1 |
A |
G |
3: 103,728,765 (GRCm39) |
S468G |
probably benign |
Het |
AY702103 |
G |
T |
17: 50,546,941 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc14 |
T |
C |
16: 34,542,110 (GRCm39) |
L536S |
probably damaging |
Het |
Ccr9 |
G |
T |
9: 123,608,658 (GRCm39) |
M101I |
probably benign |
Het |
Celsr1 |
A |
T |
15: 85,800,957 (GRCm39) |
V2496E |
probably benign |
Het |
Celsr2 |
C |
A |
3: 108,303,285 (GRCm39) |
G2486V |
probably damaging |
Het |
Cntnap3 |
A |
G |
13: 64,926,602 (GRCm39) |
|
probably null |
Het |
Erlin1 |
T |
C |
19: 44,057,759 (GRCm39) |
Y22C |
probably damaging |
Het |
Fam135b |
T |
C |
15: 71,334,189 (GRCm39) |
T1002A |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Glud1 |
T |
C |
14: 34,033,063 (GRCm39) |
V70A |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,349,842 (GRCm39) |
|
probably benign |
Het |
Immt |
T |
C |
6: 71,833,923 (GRCm39) |
L184P |
probably damaging |
Het |
Iqsec1 |
T |
G |
6: 90,644,995 (GRCm39) |
K983T |
probably damaging |
Het |
Klhl6 |
A |
T |
16: 19,765,897 (GRCm39) |
N568K |
probably damaging |
Het |
Lbhd1 |
T |
G |
19: 8,861,452 (GRCm39) |
|
probably benign |
Het |
Lrit2 |
C |
T |
14: 36,794,432 (GRCm39) |
R499C |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,461,213 (GRCm39) |
D748G |
probably damaging |
Het |
Lrriq4 |
A |
G |
3: 30,704,892 (GRCm39) |
K292E |
probably benign |
Het |
Ly96 |
G |
T |
1: 16,761,940 (GRCm39) |
E49* |
probably null |
Het |
Lztr1 |
C |
T |
16: 17,341,955 (GRCm39) |
|
probably benign |
Het |
Mmp12 |
A |
G |
9: 7,347,515 (GRCm39) |
M31V |
probably benign |
Het |
Mok |
A |
T |
12: 110,774,873 (GRCm39) |
|
probably benign |
Het |
Mpi |
T |
C |
9: 57,458,040 (GRCm39) |
H54R |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Or4c101 |
T |
C |
2: 88,390,722 (GRCm39) |
I292T |
probably damaging |
Het |
Pomt1 |
G |
T |
2: 32,132,888 (GRCm39) |
|
probably benign |
Het |
Ptpn20 |
G |
A |
14: 33,353,169 (GRCm39) |
V303I |
probably benign |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Shank2 |
A |
G |
7: 143,964,159 (GRCm39) |
K799R |
possibly damaging |
Het |
Sim1 |
A |
T |
10: 50,860,093 (GRCm39) |
T652S |
probably benign |
Het |
Spaca6 |
A |
T |
17: 18,056,307 (GRCm39) |
|
probably benign |
Het |
Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
Tenm4 |
G |
T |
7: 96,544,949 (GRCm39) |
G2322W |
probably damaging |
Het |
Thap1 |
A |
G |
8: 26,652,597 (GRCm39) |
T135A |
probably damaging |
Het |
Traf3 |
T |
C |
12: 111,228,400 (GRCm39) |
V537A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,578,680 (GRCm39) |
D24071G |
probably damaging |
Het |
Tysnd1 |
G |
T |
10: 61,531,962 (GRCm39) |
V205L |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,079,081 (GRCm39) |
S1749P |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,771,162 (GRCm39) |
*846C |
probably null |
Het |
Vmn2r74 |
C |
T |
7: 85,606,317 (GRCm39) |
S343N |
probably benign |
Het |
Zfyve28 |
T |
G |
5: 34,379,787 (GRCm39) |
|
probably benign |
Het |
Zmym2 |
T |
C |
14: 57,165,764 (GRCm39) |
S696P |
probably damaging |
Het |
Zscan4e |
T |
C |
7: 11,041,002 (GRCm39) |
Y290C |
possibly damaging |
Het |
Zswim2 |
G |
T |
2: 83,745,891 (GRCm39) |
H516N |
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 |
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'- TACTTTGTGGCCATGGTCTAC -3'
(R):5'- CCTGGGGAGAAAACTGCTAG -3'
Sequencing Primer
(F):5'- CTACATGTTCCTGGGTGTGTCTATC -3'
(R):5'- CCTCAGGTGCTTGATCTTACGG -3'
|
Posted On |
2015-10-08 |