Mutagenetix > Incidental Mutations

Incidental Mutation 'R5057:Slc8a3'

390969

Institutional Source

Beutler Lab

Gene Symbol

Slc8a3

Ensembl Gene

ENSMUSG00000079055

Gene Name

solute carrier family 8 (sodium/calcium exchanger), member 3

Synonyms

Ncx3

MMRRC Submission

042647-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5057 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

81197915-81333180 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81199558 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 900 (V900A)

Ref Sequence

ENSEMBL: ENSMUSP00000082334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208] [ENSMUST00000182366]

PDB Structure

The solution structure of Ca2+ binding domain 2B of the third isoform of the Na+/Ca2+ exchanger [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064594
AA Change: V906A

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: V906A

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	79	250	1.3e-36	PFAM
Pfam:Na_Ca_ex_C	253	379	4.6e-57	PFAM
Calx_beta	385	485	3.25e-42	SMART
Calx_beta	519	619	1.04e-40	SMART
low complexity region	712	723	N/A	INTRINSIC
Pfam:Na_Ca_ex	754	919	2e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085238
AA Change: V900A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: V900A

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	79	250	1.3e-36	PFAM
Pfam:Na_Ca_ex_C	253	379	4.6e-57	PFAM
Calx_beta	385	485	3.25e-42	SMART
Calx_beta	519	619	1.54e-43	SMART
low complexity region	705	716	N/A	INTRINSIC
Pfam:Na_Ca_ex	747	912	1.9e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182208
AA Change: V907A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: V907A

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	89	248	8.1e-38	PFAM
Calx_beta	385	485	3.25e-42	SMART
Calx_beta	519	619	1.04e-40	SMART
low complexity region	712	723	N/A	INTRINSIC
Pfam:Na_Ca_ex	764	917	9.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182366

SMART Domains

Protein: ENSMUSP00000138803
Gene: ENSMUSG00000079055

Domain	Start	End	E-Value	Type
PDB:2LT9\|A	1	52	2e-28	PDB
low complexity region	82	93	N/A	INTRINSIC

Meta Mutation Damage Score

0.3998

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

97% (118/122)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,225,421	F207I	probably benign	Het
4933427D14Rik	A	T	11: 72,166,755	H739Q	probably benign	Het
Acad12	T	A	5: 121,610,089	T89S	probably benign	Het
Adgb	A	G	10: 10,357,978	C1252R	probably benign	Het
Ankef1	A	G	2: 136,550,360		probably null	Het
Ankfy1	T	C	11: 72,759,919	L976P	probably damaging	Het
Ankib1	T	A	5: 3,734,011	I322F	possibly damaging	Het
Ankrd61	T	A	5: 143,894,795	T64S	probably benign	Het
Anxa6	T	G	11: 55,001,236	E298A	possibly damaging	Het
Apc2	A	G	10: 80,309,069	S605G	probably damaging	Het
Arih1	T	C	9: 59,486,232	N39S	unknown	Het
Bicc1	A	G	10: 70,947,883	S393P	possibly damaging	Het
Bptf	A	T	11: 107,082,528	F693L	probably damaging	Het
Cacng4	A	G	11: 107,794,371	Y32H	probably damaging	Het
Ccdc50	T	A	16: 27,438,342	D252E	probably benign	Het
Ccdc92b	C	A	11: 74,638,150	T160K	probably damaging	Het
Cd163	C	T	6: 124,325,288	T937I	probably damaging	Het
Cdh22	C	A	2: 165,116,143	V635F	probably damaging	Het
Cenpe	G	T	3: 135,220,313	A243S	probably benign	Het
Cep295	A	T	9: 15,322,683	H2272Q	probably benign	Het
Cgnl1	A	T	9: 71,724,794	V425D	probably damaging	Het
Clec4b2	A	T	6: 123,200,956	S77C	probably null	Het
Cntnap5a	C	T	1: 115,685,213	T26I	probably benign	Het
Col6a3	T	C	1: 90,816,130	K165R	possibly damaging	Het
Copb1	A	T	7: 114,226,762	N662K	probably benign	Het
Crybg1	T	A	10: 43,989,108	R1458*	probably null	Het
Cspp1	T	A	1: 10,074,961		probably benign	Het
Dhtkd1	A	G	2: 5,919,513	C430R	probably damaging	Het
Dlg5	T	C	14: 24,136,622	E1847G	probably damaging	Het
Ephb3	A	G	16: 21,220,447	D351G	probably damaging	Het
Exd2	T	A	12: 80,496,790	N582K	probably damaging	Het
Fam161a	T	A	11: 23,020,397	C192S	probably damaging	Het
Fbn1	A	G	2: 125,466,695	V149A	probably benign	Het
Fbxw16	A	G	9: 109,441,164	S170P	probably damaging	Het
Fndc1	T	A	17: 7,771,970	R965*	probably null	Het
Frem2	T	C	3: 53,535,196	D2640G	probably benign	Het
Gfm1	T	C	3: 67,473,544	V664A	probably damaging	Het
Gm10803	A	C	2: 93,564,172	L96F	probably damaging	Het
Gm14569	T	C	X: 36,430,817	D1413G	probably benign	Het
Gm44501	A	G	17: 40,578,672	T26A	probably benign	Het
Gm4907	G	A	X: 23,907,241	G327E	probably damaging	Het
Gm5045	A	T	15: 59,211,155		noncoding transcript	Het
Gm6803	A	T	12: 88,018,711	S21T	unknown	Het
Gpc4	G	A	X: 52,074,563	R148C	probably damaging	Het
Gpsm1	G	A	2: 26,325,357	R277Q	probably damaging	Het
Inmt	T	A	6: 55,174,898	H29L	probably benign	Het
Insrr	T	A	3: 87,815,265	C1265S	probably benign	Het
Kctd12	A	G	14: 102,981,609	F278L	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lag3	T	A	6: 124,905,355	I393F	possibly damaging	Het
Lama2	C	T	10: 27,164,986	C1447Y	probably damaging	Het
Lama3	G	A	18: 12,531,948	G2275S	probably null	Het
Lrrc17	A	T	5: 21,575,309	H427L	probably benign	Het
Med13l	T	A	5: 118,718,493	S164T	probably damaging	Het
Milr1	A	G	11: 106,766,965	D131G	possibly damaging	Het
Myo5c	A	T	9: 75,300,873	T1630S	probably damaging	Het
Nbeal2	A	T	9: 110,631,005	N1848K	probably damaging	Het
Ncor2	A	T	5: 125,048,066	V307E	possibly damaging	Het
Ndufs3	C	A	2: 90,898,660	A161S	probably benign	Het
Neo1	T	C	9: 58,990,271	D134G	probably damaging	Het
Nexmif	A	T	X: 104,087,350	N320K	probably damaging	Het
Nipal3	T	A	4: 135,466,856	I289F	probably damaging	Het
Nrg4	A	G	9: 55,282,596		probably benign	Het
Nrxn3	A	T	12: 89,255,034	I528F	probably damaging	Het
Olfr139	T	A	11: 74,045,055	D73V	probably damaging	Het
Olfr748	A	C	14: 50,711,212	N294T	probably damaging	Het
Pate2	T	C	9: 35,686,111		probably benign	Het
Pcnx2	T	C	8: 125,855,191	I935M	possibly damaging	Het
Pik3c2a	G	T	7: 116,376,283	T683K	possibly damaging	Het
Pip5k1c	G	A	10: 81,310,889		probably null	Het
Pkd1l2	G	A	8: 117,055,008	T766I	probably benign	Het
Polr3c	C	A	3: 96,712,057	L508F	probably damaging	Het
Por	A	G	5: 135,730,902	D189G	probably damaging	Het
Prim2	A	T	1: 33,630,360	L178*	probably null	Het
Prima1	C	A	12: 103,202,605		probably null	Het
Ptpn21	G	A	12: 98,679,407	R1091C	probably damaging	Het
Ptpn23	G	A	9: 110,388,556	T744I	probably benign	Het
Rad21	A	T	15: 51,966,706	I503K	probably benign	Het
Rbm12	A	T	2: 156,096,886	C489S	probably benign	Het
Rpl10a	A	T	17: 28,330,633	H140L	probably benign	Het
Rtbdn	T	C	8: 84,955,009	F143S	probably damaging	Het
Scamp3	T	A	3: 89,182,293		probably benign	Het
Setd5	A	G	6: 113,137,961	S848G	probably damaging	Het
Sez6	T	C	11: 77,973,153	V487A	probably damaging	Het
Shc2	G	A	10: 79,623,872	P413S	probably benign	Het
Sipa1l3	T	C	7: 29,371,193	N966S	probably damaging	Het
Slc39a8	A	G	3: 135,849,029	E78G	probably benign	Het
Slitrk3	T	C	3: 73,050,648	T264A	probably benign	Het
Spire2	G	A	8: 123,358,201	R260H	probably damaging	Het
Stk39	T	A	2: 68,220,948	I518F	probably damaging	Het
Tardbp	T	A	4: 148,619,356		probably null	Het
Tep1	A	G	14: 50,828,999	Y2335H	probably benign	Het
Tll2	A	G	19: 41,117,266	V358A	probably benign	Het
Tmem268	C	G	4: 63,568,540	S100C	probably damaging	Het
Tnfsf9	A	G	17: 57,105,444	T5A	probably benign	Het
Trappc10	G	T	10: 78,217,160	F260L	possibly damaging	Het
Trim5	A	G	7: 104,265,423	Y480H	probably damaging	Het
Trmt112	T	C	19: 6,910,753	V91A	probably benign	Het
Ttn	T	A	2: 76,747,035	K22759*	probably null	Het
Ttn	C	A	2: 76,918,644	L4020F	probably benign	Het
Ubash3b	A	G	9: 41,037,459	C187R	possibly damaging	Het
Ube3b	T	C	5: 114,406,257	F572L	probably benign	Het
Ubr5	A	G	15: 38,004,109	V1332A	probably damaging	Het
Ubtd2	C	A	11: 32,516,320	R180S	probably damaging	Het
Ubtf	A	G	11: 102,307,087	S673P	probably damaging	Het
Ubtfl1	A	T	9: 18,409,191	D5V	possibly damaging	Het
Usp17la	G	A	7: 104,861,123	V312I	possibly damaging	Het
Usp17ld	G	T	7: 103,250,448	H426N	probably benign	Het
Usp34	A	G	11: 23,458,086		probably benign	Het
Vmn1r199	A	T	13: 22,383,405	T290S	possibly damaging	Het
Vmn1r33	T	C	6: 66,612,105	N155S	probably benign	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vmn2r6	T	A	3: 64,537,786	K839N	probably damaging	Het
Vmn2r65	A	G	7: 84,940,611	I699T	probably damaging	Het
Vps16	A	G	2: 130,439,452	S235G	probably benign	Het
Vwde	T	C	6: 13,192,642	I421V	possibly damaging	Het
Wdr60	A	T	12: 116,213,413	N856K	probably benign	Het
Xiap	T	C	X: 42,094,465	F23L	probably benign	Het
Xkr7	A	G	2: 153,054,380	T385A	probably benign	Het
Znfx1	T	C	2: 167,039,826	Y217C	probably damaging	Het

Other mutations in Slc8a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Slc8a3	APN	12	81314569	missense	probably benign
IGL01315:Slc8a3	APN	12	81314395	missense	probably damaging	0.97
IGL01365:Slc8a3	APN	12	81315376	missense	probably damaging	0.99
IGL01610:Slc8a3	APN	12	81315802	missense	probably damaging	1.00
IGL02227:Slc8a3	APN	12	81315683	missense	probably damaging	1.00
IGL02299:Slc8a3	APN	12	81315224	missense	probably damaging	0.98
IGL02548:Slc8a3	APN	12	81204156	splice site	probably benign
IGL02646:Slc8a3	APN	12	81315094	missense	probably damaging	1.00
IGL03135:Slc8a3	APN	12	81202249	missense	probably damaging	1.00
R0050:Slc8a3	UTSW	12	81315265	missense	probably damaging	1.00
R0627:Slc8a3	UTSW	12	81314842	missense	probably damaging	1.00
R0648:Slc8a3	UTSW	12	81314446	missense	probably damaging	1.00
R1342:Slc8a3	UTSW	12	81316016	missense	probably damaging	0.99
R1437:Slc8a3	UTSW	12	81315986	missense	probably damaging	0.99
R1470:Slc8a3	UTSW	12	81199710	missense	probably benign
R1470:Slc8a3	UTSW	12	81199710	missense	probably benign
R1557:Slc8a3	UTSW	12	81315557	missense	probably damaging	1.00
R1563:Slc8a3	UTSW	12	81205007	missense	possibly damaging	0.47
R1918:Slc8a3	UTSW	12	81314844	missense	probably damaging	0.99
R1930:Slc8a3	UTSW	12	81314446	missense	probably damaging	1.00
R1931:Slc8a3	UTSW	12	81314446	missense	probably damaging	1.00
R2232:Slc8a3	UTSW	12	81315220	missense	probably damaging	0.99
R2680:Slc8a3	UTSW	12	81202339	missense	probably damaging	0.99
R2941:Slc8a3	UTSW	12	81315179	missense	probably damaging	1.00
R3157:Slc8a3	UTSW	12	81314992	missense	probably damaging	1.00
R3159:Slc8a3	UTSW	12	81314992	missense	probably damaging	1.00
R3751:Slc8a3	UTSW	12	81204138	missense	probably damaging	1.00
R3859:Slc8a3	UTSW	12	81314872	missense	probably damaging	0.99
R4240:Slc8a3	UTSW	12	81315176	missense	probably damaging	0.99
R4527:Slc8a3	UTSW	12	81315853	missense	probably damaging	1.00
R4547:Slc8a3	UTSW	12	81314851	missense	possibly damaging	0.76
R4951:Slc8a3	UTSW	12	81314699	missense	probably benign	0.31
R4951:Slc8a3	UTSW	12	81315986	missense	probably damaging	0.99
R5022:Slc8a3	UTSW	12	81199558	missense	probably damaging	0.96
R5049:Slc8a3	UTSW	12	81214132	missense	probably damaging	1.00
R5104:Slc8a3	UTSW	12	81214134	missense	probably null	0.34
R5122:Slc8a3	UTSW	12	81314258	critical splice donor site	probably null
R5183:Slc8a3	UTSW	12	81314491	missense	possibly damaging	0.79
R5629:Slc8a3	UTSW	12	81199631	missense	probably damaging	1.00
R6062:Slc8a3	UTSW	12	81314350	missense	probably damaging	1.00
R6218:Slc8a3	UTSW	12	81199567	missense	probably benign
R6279:Slc8a3	UTSW	12	81314978	missense	probably damaging	0.99
R6300:Slc8a3	UTSW	12	81314978	missense	probably damaging	0.99
R6416:Slc8a3	UTSW	12	81315627	missense	probably damaging	1.00
R6790:Slc8a3	UTSW	12	81314432	missense	probably benign	0.00
R6999:Slc8a3	UTSW	12	81314755	missense	probably benign	0.06
R7195:Slc8a3	UTSW	12	81314273	missense	possibly damaging	0.95
R7268:Slc8a3	UTSW	12	81315053	missense	probably damaging	0.98
R7288:Slc8a3	UTSW	12	81216824	missense	possibly damaging	0.70
R7383:Slc8a3	UTSW	12	81315805	missense	probably damaging	1.00
R7392:Slc8a3	UTSW	12	81314803	missense	probably damaging	0.99
R7394:Slc8a3	UTSW	12	81214058	splice site	probably null
R7549:Slc8a3	UTSW	12	81314770	missense	probably benign	0.06
R7657:Slc8a3	UTSW	12	81314384	missense	probably damaging	1.00
R7699:Slc8a3	UTSW	12	81314473	missense	probably damaging	1.00
R7759:Slc8a3	UTSW	12	81314551	missense	probably benign
R7960:Slc8a3	UTSW	12	81216732	missense	probably benign	0.00
R7985:Slc8a3	UTSW	12	81314993	missense	probably damaging	1.00
R8059:Slc8a3	UTSW	12	81202258	missense	probably damaging	1.00
R8192:Slc8a3	UTSW	12	81199681	missense	probably damaging	1.00
R8397:Slc8a3	UTSW	12	81199768	missense	probably benign	0.45
R8413:Slc8a3	UTSW	12	81314678	missense	probably damaging	0.97
R8681:Slc8a3	UTSW	12	81315140	missense	probably benign
X0026:Slc8a3	UTSW	12	81315287	missense	probably benign	0.22
X0028:Slc8a3	UTSW	12	81314943	missense	probably damaging	1.00
Z1177:Slc8a3	UTSW	12	81314700	missense	possibly damaging	0.92
Z1177:Slc8a3	UTSW	12	81315876	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- ATGTGTCTGCTCCAGGGATG -3'
(R):5'- ATGCCGTCAATGTCTTCCTG -3'

Sequencing Primer
(F):5'- TCTGCTCCAGGGATGAGTAAC -3'
(R):5'- ATCTACTGGGCCATGCAGG -3'

Posted On

2016-06-06