Mutagenetix > Incidental Mutation

Incidental Mutation 'R8698:Slc8a2'

668844

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

068552-MU

Accession Numbers

Essential gene?

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

Stock #

R8698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15863751-15894988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15891132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 724 (Y724C)

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: Y718C

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

SMART Domains

Protein: ENSMUSP00000128926
Gene: ENSMUSG00000030376
AA Change: Y718C

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: Y724C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,247,250 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,714 (GRCm39)	N1384S	probably benign	Het
Adgre1	T	C	17: 57,709,003 (GRCm39)	S65P	probably benign	Het
Adgrl4	G	T	3: 151,203,512 (GRCm39)	C124F	probably damaging	Het
Aldh1b1	G	A	4: 45,802,942 (GRCm39)	G160D	probably damaging	Het
Alpi	T	G	1: 87,028,208 (GRCm39)	D205A	probably damaging	Het
AW146154	C	A	7: 41,129,934 (GRCm39)	R394L	probably benign	Het
Bcl10	G	A	3: 145,639,022 (GRCm39)	M221I	probably benign	Het
Brpf3	G	A	17: 29,037,436 (GRCm39)	R768H	probably damaging	Het
Cad	G	T	5: 31,234,819 (GRCm39)	R2116L	probably benign	Het
Cand2	G	T	6: 115,763,852 (GRCm39)	R258L	probably damaging	Het
Car4	A	T	11: 84,855,009 (GRCm39)	N119I	probably benign	Het
Carmil1	C	T	13: 24,220,229 (GRCm39)	G1165D	probably damaging	Het
Ccdc66	T	C	14: 27,212,647 (GRCm39)	T403A	probably benign	Het
Cdon	T	G	9: 35,398,269 (GRCm39)		probably null	Het
Cemip	T	C	7: 83,607,790 (GRCm39)	I739V	probably damaging	Het
Cep85l	A	G	10: 53,234,201 (GRCm39)	I59T	probably damaging	Het
Clec4f	A	T	6: 83,630,267 (GRCm39)	V97D	probably benign	Het
Cnot6l	A	G	5: 96,225,149 (GRCm39)	C515R	probably damaging	Het
Cntnap2	G	A	6: 47,026,156 (GRCm39)	G935D	probably damaging	Het
Cntrl	A	G	2: 35,023,974 (GRCm39)	H553R	probably damaging	Het
Cops3	A	G	11: 59,708,886 (GRCm39)	S423P	probably damaging	Het
Cox15	C	T	19: 43,739,948 (GRCm39)	R39H	probably benign	Het
Ctnna2	A	G	6: 77,630,100 (GRCm39)	V131A	probably benign	Het
Dcst2	T	A	3: 89,276,044 (GRCm39)	F392I	probably benign	Het
Decr1	A	G	4: 15,922,483 (GRCm39)		probably null	Het
Dennd3	A	C	15: 73,394,154 (GRCm39)	T60P	possibly damaging	Het
Dipk1a	A	T	5: 108,057,776 (GRCm39)	F261I	probably damaging	Het
Dmxl2	T	C	9: 54,281,953 (GRCm39)	N2859S	probably benign	Het
Dnah12	A	T	14: 26,428,418 (GRCm39)	I280F	probably benign	Het
Dnah8	A	C	17: 31,094,009 (GRCm39)	D4701A	probably damaging	Het
Dyrk1a	C	A	16: 94,487,414 (GRCm39)	H541Q	possibly damaging	Het
Eml4	T	C	17: 83,785,345 (GRCm39)	S906P	probably benign	Het
Fam169a	G	T	13: 97,243,578 (GRCm39)	V203F	probably damaging	Het
Fmn1	C	T	2: 113,260,152 (GRCm39)	L682F	unknown	Het
Gli2	T	C	1: 118,769,887 (GRCm39)	Y555C	probably damaging	Het
Gm3278	A	G	14: 16,081,505 (GRCm39)	Y130C	possibly damaging	Het
Gm8237	T	A	14: 5,863,554 (GRCm38)	Y37F	probably damaging	Het
Golga4	T	G	9: 118,385,029 (GRCm39)	L717R	probably damaging	Het
Gtpbp4	C	T	13: 9,024,249 (GRCm39)	R568H	probably benign	Het
Il1f10	A	G	2: 24,183,197 (GRCm39)	N47S	probably damaging	Het
Itga6	A	G	2: 71,673,618 (GRCm39)	H884R	probably benign	Het
Kdm1a	T	C	4: 136,286,518 (GRCm39)	K482R	probably benign	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	T	A	2: 69,278,583 (GRCm39)	R3923S	probably benign	Het
Lrp2	C	T	2: 69,288,767 (GRCm39)	V3700M	probably benign	Het
Lrrk2	A	G	15: 91,636,400 (GRCm39)	D1458G	probably benign	Het
Mapre2	T	A	18: 24,011,090 (GRCm39)	S233T	probably benign	Het
Mki67	T	C	7: 135,296,937 (GRCm39)	D2699G	possibly damaging	Het
Mthfr	T	A	4: 148,128,947 (GRCm39)	Y214*	probably null	Het
Ncoa6	A	T	2: 155,257,041 (GRCm39)	M834K	possibly damaging	Het
Neurl2	C	T	2: 164,675,054 (GRCm39)	D103N	probably benign	Het
Niban3	T	A	8: 72,060,159 (GRCm39)	I93N	unknown	Het
Or1j15	T	C	2: 36,458,915 (GRCm39)	Y102H	possibly damaging	Het
Or2ag16	A	T	7: 106,352,571 (GRCm39)	V8E	probably benign	Het
Or2b7	G	A	13: 21,739,890 (GRCm39)	L101F	probably damaging	Het
P2ry14	A	G	3: 59,022,596 (GRCm39)	V288A	possibly damaging	Het
Pde6b	G	T	5: 108,576,105 (GRCm39)	S730I	possibly damaging	Het
Pdpk1	A	T	17: 24,298,542 (GRCm39)	V496D	probably damaging	Het
Plekho2	A	T	9: 65,463,554 (GRCm39)	L432M	probably damaging	Het
Ppa2	T	C	3: 133,082,362 (GRCm39)	L151P	unknown	Het
Ppp2r3c	G	A	12: 55,328,499 (GRCm39)	T422I	probably benign	Het
Prelid3a	T	C	18: 67,610,122 (GRCm39)	S151P	probably damaging	Het
Rad21l	G	A	2: 151,487,373 (GRCm39)	P537L	probably damaging	Het
Sacs	T	A	14: 61,450,802 (GRCm39)	S4283T	probably benign	Het
Samd9l	A	T	6: 3,373,843 (GRCm39)	D1139E	probably benign	Het
Scn9a	G	T	2: 66,366,628 (GRCm39)	H718Q	probably benign	Het
Slc1a3	A	T	15: 8,668,636 (GRCm39)	I443N	probably damaging	Het
Slc22a6	A	G	19: 8,600,889 (GRCm39)	M361V	probably benign	Het
Slf1	A	T	13: 77,197,284 (GRCm39)	S777T	possibly damaging	Het
Sltm	T	C	9: 70,494,352 (GRCm39)	S901P	probably benign	Het
Smc1b	A	T	15: 84,997,047 (GRCm39)	H524Q	probably benign	Het
Spast	T	C	17: 74,666,341 (GRCm39)	S225P	probably benign	Het
Srsf12	C	T	4: 33,231,246 (GRCm39)	R252W	probably damaging	Het
Syne1	A	G	10: 5,179,229 (GRCm39)	L4415P	probably damaging	Het
Tmem117	A	T	15: 94,535,990 (GRCm39)	Y8F	probably benign	Het
Tmem241	T	C	18: 12,197,288 (GRCm39)	D180G	possibly damaging	Het
Tomm40	C	T	7: 19,444,890 (GRCm39)	V164I	probably benign	Het
Ttc41	T	C	10: 86,548,841 (GRCm39)	Y12H	probably benign	Het
Twnk	T	C	19: 44,996,299 (GRCm39)	V244A	probably benign	Het
Ugt1a8	T	C	1: 88,015,952 (GRCm39)	S122P	probably damaging	Het
Vmn1r78	A	G	7: 11,886,539 (GRCm39)	K50R	probably benign	Het
Vmn2r10	A	G	5: 109,151,390 (GRCm39)	F75L	probably benign	Het
Wbp4	G	T	14: 79,707,573 (GRCm39)	Y179*	probably null	Het
Zfp106	A	G	2: 120,354,600 (GRCm39)		probably null	Het
Zfp974	A	T	7: 27,610,361 (GRCm39)	C455S	possibly 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
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
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'- TGGGAAAGCAGTTCATGTGG -3'
(R):5'- TCACGAGGTGTTACCAGGGATG -3'

Sequencing Primer
(F):5'- TGGAACTGTCTGGAAGCCTAACAC -3'
(R):5'- TACGAAGACCACGGCGTTGAC -3'

Posted On

2021-04-30