Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Slc8a2'

189023

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

039691-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16129826-16161063 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 16141135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 436 (G436V)

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: G436V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128926
Gene: ENSMUSG00000030376
AA Change: G436V

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: G436V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	A	T	9: 51,083,621	I136N	probably damaging	Het
9530053A07Rik	A	T	7: 28,147,110	N1076Y	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,333		probably benign	Het
Abca1	C	T	4: 53,050,964	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340	T19K	unknown	Het
Disp1	A	T	1: 183,087,004	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198	S258P	probably damaging	Het
Emilin3	T	A	2: 160,910,866		probably null	Het
Ermn	C	T	2: 58,052,584	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318	V2189A	probably damaging	Het
Filip1l	T	C	16: 57,571,851	I934T	probably damaging	Het
Gbp9	T	A	5: 105,081,692	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,753,176	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905	V248F	probably damaging	Het
Helz2	T	C	2: 181,234,147	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,630,333	V3814A	probably benign	Het
Ifna7	A	G	4: 88,816,660	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148	N608H	probably damaging	Het
Klra2	T	A	6: 131,220,211	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,811,824	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563	I126V	probably benign	Het
Mr1	G	A	1: 155,132,455	T258M	probably benign	Het
Mrps35	T	G	6: 147,060,228	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245		probably null	Het
Nlrp4a	A	T	7: 26,449,651	I228F	possibly damaging	Het
Olfr1047	A	G	2: 86,228,080	V297A	possibly damaging	Het
Olfr1339	A	G	4: 118,734,999	S157G	probably benign	Het
Olfr368	A	G	2: 37,331,939	Y64C	probably damaging	Het
Olfr483	A	T	7: 108,103,464	I52F	probably damaging	Het
Paxx	T	C	2: 25,460,316	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768	G128W	probably damaging	Het
Piezo1	A	G	8: 122,496,822	I796T	probably benign	Het
Pkhd1	A	G	1: 20,584,129	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922	F259Y	probably damaging	Het
Pus7	T	A	5: 23,747,800	K512*	probably null	Het
Ralyl	A	T	3: 14,107,236	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596	F231L	probably damaging	Het
Ric8a	T	C	7: 140,860,895	C94R	probably benign	Het
Rictor	T	A	15: 6,772,212	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782	D427G	probably benign	Het
Scai	A	T	2: 39,080,117	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,257,378	C277F	probably benign	Het
Slc15a1	A	T	14: 121,465,899	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419	V628A	probably benign	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Supt5	T	C	7: 28,330,024	I103V	probably benign	Het
Tdrd1	T	A	19: 56,843,216	Y346*	probably null	Het
Tg	T	G	15: 66,828,568		probably null	Het
Top1	T	A	2: 160,703,696		probably null	Het
Trmt12	T	C	15: 58,873,227	L158P	probably damaging	Het
Tssk4	A	G	14: 55,651,695	N226S	probably damaging	Het
Unc80	G	T	1: 66,672,756	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051	V999E	probably benign	Het
Virma	T	C	4: 11,494,786	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554	V709A	possibly damaging	Het

Other mutations in Slc8a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Slc8a2	APN	7	16,158,893 (GRCm38)	missense	probably damaging	1.00
IGL02097:Slc8a2	APN	7	16,157,156 (GRCm38)	missense	possibly damaging	0.88
IGL02744:Slc8a2	APN	7	16,145,029 (GRCm38)	missense	possibly damaging	0.91
PIT4402001:Slc8a2	UTSW	7	16,134,494 (GRCm38)	missense	probably damaging	1.00
PIT4515001:Slc8a2	UTSW	7	16,140,579 (GRCm38)	missense	possibly damaging	0.69
R0281:Slc8a2	UTSW	7	16,140,989 (GRCm38)	missense	probably benign
R0513:Slc8a2	UTSW	7	16,157,339 (GRCm38)	missense	probably damaging	1.00
R0811:Slc8a2	UTSW	7	16,141,114 (GRCm38)	missense	probably damaging	1.00
R0812:Slc8a2	UTSW	7	16,141,114 (GRCm38)	missense	probably damaging	1.00
R0940:Slc8a2	UTSW	7	16,144,962 (GRCm38)	missense	probably benign	0.04
R1167:Slc8a2	UTSW	7	16,157,387 (GRCm38)	missense	possibly damaging	0.58
R1508:Slc8a2	UTSW	7	16,140,597 (GRCm38)	missense	probably benign	0.00
R1917:Slc8a2	UTSW	7	16,152,920 (GRCm38)	missense	probably benign	0.11
R1919:Slc8a2	UTSW	7	16,152,920 (GRCm38)	missense	probably benign	0.11
R2051:Slc8a2	UTSW	7	16,141,015 (GRCm38)	missense	probably damaging	1.00
R2083:Slc8a2	UTSW	7	16,134,515 (GRCm38)	missense	probably damaging	1.00
R2128:Slc8a2	UTSW	7	16,140,492 (GRCm38)	splice site	probably null
R2149:Slc8a2	UTSW	7	16,159,164 (GRCm38)	missense	probably damaging	1.00
R3437:Slc8a2	UTSW	7	16,158,885 (GRCm38)	missense	probably damaging	1.00
R3618:Slc8a2	UTSW	7	16,152,899 (GRCm38)	missense	possibly damaging	0.48
R4645:Slc8a2	UTSW	7	16,134,239 (GRCm38)	missense	probably damaging	1.00
R4741:Slc8a2	UTSW	7	16,134,308 (GRCm38)	missense	probably damaging	1.00
R4936:Slc8a2	UTSW	7	16,134,175 (GRCm38)	nonsense	probably null
R5071:Slc8a2	UTSW	7	16,150,583 (GRCm38)	missense	possibly damaging	0.84
R5072:Slc8a2	UTSW	7	16,150,583 (GRCm38)	missense	possibly damaging	0.84
R5074:Slc8a2	UTSW	7	16,150,583 (GRCm38)	missense	possibly damaging	0.84
R5150:Slc8a2	UTSW	7	16,145,176 (GRCm38)	missense	possibly damaging	0.74
R5358:Slc8a2	UTSW	7	16,157,303 (GRCm38)	missense	probably damaging	1.00
R5839:Slc8a2	UTSW	7	16,134,487 (GRCm38)	missense	probably damaging	1.00
R5957:Slc8a2	UTSW	7	16,145,284 (GRCm38)	missense	possibly damaging	0.90
R6273:Slc8a2	UTSW	7	16,145,334 (GRCm38)	missense	possibly damaging	0.94
R6363:Slc8a2	UTSW	7	16,134,045 (GRCm38)	missense	probably benign	0.00
R6881:Slc8a2	UTSW	7	16,157,357 (GRCm38)	missense	probably damaging	1.00
R7084:Slc8a2	UTSW	7	16,145,038 (GRCm38)	missense	probably benign	0.17
R7211:Slc8a2	UTSW	7	16,140,613 (GRCm38)	missense	possibly damaging	0.87
R7227:Slc8a2	UTSW	7	16,144,981 (GRCm38)	missense	possibly damaging	0.73
R7278:Slc8a2	UTSW	7	16,141,152 (GRCm38)	missense	probably damaging	1.00
R7380:Slc8a2	UTSW	7	16,134,353 (GRCm38)	missense	probably damaging	1.00
R8239:Slc8a2	UTSW	7	16,145,305 (GRCm38)	missense	probably benign	0.00
R8698:Slc8a2	UTSW	7	16,157,207 (GRCm38)	missense	probably damaging	1.00
R8926:Slc8a2	UTSW	7	16,134,269 (GRCm38)	missense	probably damaging	1.00
R9249:Slc8a2	UTSW	7	16,157,231 (GRCm38)	missense	probably damaging	1.00
R9483:Slc8a2	UTSW	7	16,152,855 (GRCm38)	missense	possibly damaging	0.95
R9530:Slc8a2	UTSW	7	16,145,344 (GRCm38)	missense	probably null	0.86
R9778:Slc8a2	UTSW	7	16,153,199 (GRCm38)	missense	probably damaging	1.00
Z1177:Slc8a2	UTSW	7	16,140,987 (GRCm38)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CCAAGTACTATGCACTGCTGCACC -3'
(R):5'- CTGGGACACACTTGTAGTTGGGAC -3'

Sequencing Primer
(F):5'- TGCTGCACCAGCAGAAG -3'
(R):5'- TATGTGGGCCAGAGAACCTC -3'

Posted On

2014-05-09