Mutagenetix > Incidental Mutation

Incidental Mutation 'R5839:Slc8a2'

449801

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

044059-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R5839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15863751-15894988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15868412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 215 (I215F)

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: I215F

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

SMART Domains

Protein: ENSMUSP00000128926
Gene: ENSMUSG00000030376
AA Change: I215F

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: I215F

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

Meta Mutation Damage Score

0.7345

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (62/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,186,861 (GRCm39)	Y420F	probably damaging	Het
Adcy8	A	G	15: 64,588,031 (GRCm39)	Y919H	probably damaging	Het
Afg2a	A	G	3: 37,518,803 (GRCm39)	D779G	probably damaging	Het
Ampd1	A	T	3: 102,992,744 (GRCm39)	N162I	possibly damaging	Het
Arhgef15	G	A	11: 68,844,982 (GRCm39)	A205V	probably benign	Het
Ash1l	A	G	3: 88,890,658 (GRCm39)	K846E	probably damaging	Het
Azi2	C	T	9: 117,888,187 (GRCm39)	T250I	probably damaging	Het
Btbd16	G	A	7: 130,417,538 (GRCm39)		probably null	Het
Ceacam16	T	A	7: 19,590,008 (GRCm39)	K52*	probably null	Het
Cfap74	T	C	4: 155,507,207 (GRCm39)		probably null	Het
Cgn	A	C	3: 94,681,703 (GRCm39)	L464R	probably damaging	Het
Chpt1	T	A	10: 88,339,625 (GRCm39)	H32L	probably damaging	Het
Clk1	G	A	1: 58,461,074 (GRCm39)	T7I	probably benign	Het
Col6a5	C	T	9: 105,822,592 (GRCm39)		probably null	Het
Cpne4	C	A	9: 104,803,027 (GRCm39)	R224S	probably damaging	Het
Cysltr2	T	C	14: 73,267,623 (GRCm39)	Y29C	probably damaging	Het
Ddx5	A	G	11: 106,673,032 (GRCm39)	S498P	probably damaging	Het
Dgkg	A	G	16: 22,385,244 (GRCm39)	Y382H	possibly damaging	Het
Efemp1	A	G	11: 28,871,418 (GRCm39)	E339G	possibly damaging	Het
Focad	T	A	4: 88,115,083 (GRCm39)		probably benign	Het
Gabbr1	G	A	17: 37,378,760 (GRCm39)	G650D	probably damaging	Het
Galnt9	A	G	5: 110,725,386 (GRCm39)	S108G	probably benign	Het
Igkv8-28	T	A	6: 70,121,145 (GRCm39)	M1L	probably benign	Het
Iqca1l	T	C	5: 24,757,024 (GRCm39)	K218E	probably damaging	Het
Kcnq2	T	C	2: 180,751,544 (GRCm39)	Y284C	probably damaging	Het
Macf1	A	G	4: 123,275,117 (GRCm39)	F6299S	probably damaging	Het
Magi3	G	A	3: 104,127,047 (GRCm39)	T79M	probably damaging	Het
Mdh2	T	A	5: 135,812,146 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,716,998 (GRCm39)	N108T	possibly damaging	Het
N4bp3	A	T	11: 51,536,909 (GRCm39)	F55I	probably benign	Het
Nasp	C	T	4: 116,459,288 (GRCm39)		probably null	Het
Ncapg	T	A	5: 45,829,620 (GRCm39)	H107Q	probably damaging	Het
Ofcc1	T	C	13: 40,434,021 (GRCm39)	K28R	probably damaging	Het
Opn1sw	C	T	6: 29,379,829 (GRCm39)	C135Y	probably damaging	Het
Pigo	T	C	4: 43,022,104 (GRCm39)	M346V	probably damaging	Het
Pkn2	A	T	3: 142,527,290 (GRCm39)	D386E	probably benign	Het
Psd2	G	T	18: 36,140,577 (GRCm39)	V617L	probably damaging	Het
Rab39	C	T	9: 53,617,387 (GRCm39)	R10H	probably damaging	Het
Slc6a6	T	A	6: 91,700,298 (GRCm39)	C9S	probably damaging	Het
Slitrk5	T	C	14: 111,917,030 (GRCm39)	V218A	probably benign	Het
Smchd1	A	T	17: 71,701,857 (GRCm39)	V1045E	probably damaging	Het
Smoc1	T	C	12: 81,214,359 (GRCm39)	I247T	probably damaging	Het
Snapc4	G	C	2: 26,255,546 (GRCm39)	Q993E	probably benign	Het
Spidr	A	T	16: 15,855,366 (GRCm39)	I383N	probably damaging	Het
Stab2	A	G	10: 86,708,555 (GRCm39)	V219A	probably damaging	Het
Tas2r103	T	C	6: 133,013,779 (GRCm39)	T96A	probably benign	Het
Tcaf3	T	C	6: 42,570,783 (GRCm39)	E323G	possibly damaging	Het
Tecta	T	C	9: 42,284,272 (GRCm39)	T938A	possibly damaging	Het
Tecta	C	T	9: 42,242,319 (GRCm39)	D2085N	probably benign	Het
Tekt2	T	A	4: 126,216,629 (GRCm39)	E328V	probably damaging	Het
Tgfb1i1	A	G	7: 127,852,537 (GRCm39)	*462W	probably null	Het
Tnip2	T	C	5: 34,653,976 (GRCm39)		probably benign	Het
Tpd52l2	G	A	2: 181,141,691 (GRCm39)	V25I	probably benign	Het
Traj15	T	A	14: 54,441,926 (GRCm39)		probably benign	Het
Trpm8	A	T	1: 88,253,228 (GRCm39)	I106F	possibly damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Ttn	T	C	2: 76,739,772 (GRCm39)	H3589R	probably benign	Het
Vmn1r28	T	A	6: 58,242,280 (GRCm39)	I41N	possibly damaging	Het
Wasf1	T	A	10: 40,812,315 (GRCm39)	V368E	unknown	Het
Zeb1	A	G	18: 5,767,507 (GRCm39)	M673V	probably benign	Het
Zfp799	T	C	17: 33,041,086 (GRCm39)	D31G	probably null	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
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'- GAGCTCTATCTGTACCTGCAGTC -3'

Sequencing Primer
(F):5'- ACAACTTCCAGGCCGGTGAG -3'
(R):5'- GTACCTGCAGTCTTGACTTGCTG -3'

Posted On

2016-12-20