Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5057 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

81244689-81379954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81246332 bp (GRCm39)

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]

AlphaFold

S4R2P9

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
4933427D14Rik	A	T	11: 72,057,581 (GRCm39)	H739Q	probably benign	Het
Acad12	T	A	5: 121,748,152 (GRCm39)	T89S	probably benign	Het
Adgb	A	G	10: 10,233,722 (GRCm39)	C1252R	probably benign	Het
Ankef1	A	G	2: 136,392,280 (GRCm39)		probably null	Het
Ankfy1	T	C	11: 72,650,745 (GRCm39)	L976P	probably damaging	Het
Ankib1	T	A	5: 3,784,011 (GRCm39)	I322F	possibly damaging	Het
Ankrd61	T	A	5: 143,831,613 (GRCm39)	T64S	probably benign	Het
Anxa6	T	G	11: 54,892,062 (GRCm39)	E298A	possibly damaging	Het
Apc2	A	G	10: 80,144,903 (GRCm39)	S605G	probably damaging	Het
Arih1	T	C	9: 59,393,515 (GRCm39)	N39S	unknown	Het
Bicc1	A	G	10: 70,783,713 (GRCm39)	S393P	possibly damaging	Het
Bptf	A	T	11: 106,973,354 (GRCm39)	F693L	probably damaging	Het
Cacng4	A	G	11: 107,685,197 (GRCm39)	Y32H	probably damaging	Het
Ccdc50	T	A	16: 27,257,092 (GRCm39)	D252E	probably benign	Het
Ccdc92b	C	A	11: 74,528,976 (GRCm39)	T160K	probably damaging	Het
Cd163	C	T	6: 124,302,247 (GRCm39)	T937I	probably damaging	Het
Cdh22	C	A	2: 164,958,063 (GRCm39)	V635F	probably damaging	Het
Cenpe	G	T	3: 134,926,074 (GRCm39)	A243S	probably benign	Het
Cep295	A	T	9: 15,233,979 (GRCm39)	H2272Q	probably benign	Het
Cgnl1	A	T	9: 71,632,076 (GRCm39)	V425D	probably damaging	Het
Clec4b2	A	T	6: 123,177,915 (GRCm39)	S77C	probably null	Het
Cntnap5a	C	T	1: 115,612,943 (GRCm39)	T26I	probably benign	Het
Col6a3	T	C	1: 90,743,852 (GRCm39)	K165R	possibly damaging	Het
Copb1	A	T	7: 113,825,997 (GRCm39)	N662K	probably benign	Het
Crybg1	T	A	10: 43,865,104 (GRCm39)	R1458*	probably null	Het
Cspp1	T	A	1: 10,145,186 (GRCm39)		probably benign	Het
Dhtkd1	A	G	2: 5,924,324 (GRCm39)	C430R	probably damaging	Het
Dlg5	T	C	14: 24,186,690 (GRCm39)	E1847G	probably damaging	Het
Dync2i1	A	T	12: 116,177,033 (GRCm39)	N856K	probably benign	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Ephb3	A	G	16: 21,039,197 (GRCm39)	D351G	probably damaging	Het
Exd2	T	A	12: 80,543,564 (GRCm39)	N582K	probably damaging	Het
Fam161a	T	A	11: 22,970,397 (GRCm39)	C192S	probably damaging	Het
Fbn1	A	G	2: 125,308,615 (GRCm39)	V149A	probably benign	Het
Fbxw16	A	G	9: 109,270,232 (GRCm39)	S170P	probably damaging	Het
Fndc1	T	A	17: 7,990,802 (GRCm39)	R965*	probably null	Het
Frem2	T	C	3: 53,442,617 (GRCm39)	D2640G	probably benign	Het
Gfm1	T	C	3: 67,380,877 (GRCm39)	V664A	probably damaging	Het
Gm10803	A	C	2: 93,394,517 (GRCm39)	L96F	probably damaging	Het
Gm14569	T	C	X: 35,694,470 (GRCm39)	D1413G	probably benign	Het
Gm44501	A	G	17: 40,889,563 (GRCm39)	T26A	probably benign	Het
Gpc4	G	A	X: 51,163,440 (GRCm39)	R148C	probably damaging	Het
Gpsm1	G	A	2: 26,215,369 (GRCm39)	R277Q	probably damaging	Het
Inmt	T	A	6: 55,151,883 (GRCm39)	H29L	probably benign	Het
Insrr	T	A	3: 87,722,572 (GRCm39)	C1265S	probably benign	Het
Kctd12	A	G	14: 103,219,045 (GRCm39)	F278L	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lag3	T	A	6: 124,882,318 (GRCm39)	I393F	possibly damaging	Het
Lama2	C	T	10: 27,040,982 (GRCm39)	C1447Y	probably damaging	Het
Lama3	G	A	18: 12,665,005 (GRCm39)	G2275S	probably null	Het
Lrrc17	A	T	5: 21,780,307 (GRCm39)	H427L	probably benign	Het
Med13l	T	A	5: 118,856,558 (GRCm39)	S164T	probably damaging	Het
Milr1	A	G	11: 106,657,791 (GRCm39)	D131G	possibly damaging	Het
Myo5c	A	T	9: 75,208,155 (GRCm39)	T1630S	probably damaging	Het
Nbeal2	A	T	9: 110,460,073 (GRCm39)	N1848K	probably damaging	Het
Ncor2	A	T	5: 125,125,130 (GRCm39)	V307E	possibly damaging	Het
Ndufs3	C	A	2: 90,729,004 (GRCm39)	A161S	probably benign	Het
Neo1	T	C	9: 58,897,554 (GRCm39)	D134G	probably damaging	Het
Nexmif	A	T	X: 103,130,956 (GRCm39)	N320K	probably damaging	Het
Nipal3	T	A	4: 135,194,167 (GRCm39)	I289F	probably damaging	Het
Nrg4	A	G	9: 55,189,880 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,804 (GRCm39)	I528F	probably damaging	Het
Or11h23	A	C	14: 50,948,669 (GRCm39)	N294T	probably damaging	Het
Or3a10	T	A	11: 73,935,881 (GRCm39)	D73V	probably damaging	Het
Pate2	T	C	9: 35,597,407 (GRCm39)		probably benign	Het
Pcnx2	T	C	8: 126,581,930 (GRCm39)	I935M	possibly damaging	Het
Pik3c2a	G	T	7: 115,975,518 (GRCm39)	T683K	possibly damaging	Het
Pip5k1c	G	A	10: 81,146,723 (GRCm39)		probably null	Het
Pkd1l2	G	A	8: 117,781,747 (GRCm39)	T766I	probably benign	Het
Polr3c	C	A	3: 96,619,373 (GRCm39)	L508F	probably damaging	Het
Por	A	G	5: 135,759,756 (GRCm39)	D189G	probably damaging	Het
Potefam1	A	T	2: 111,055,766 (GRCm39)	F207I	probably benign	Het
Prim2	A	T	1: 33,669,441 (GRCm39)	L178*	probably null	Het
Prima1	C	A	12: 103,168,864 (GRCm39)		probably null	Het
Ptpn21	G	A	12: 98,645,666 (GRCm39)	R1091C	probably damaging	Het
Ptpn23	G	A	9: 110,217,624 (GRCm39)	T744I	probably benign	Het
Rad21	A	T	15: 51,830,102 (GRCm39)	I503K	probably benign	Het
Rbm12	A	T	2: 155,938,806 (GRCm39)	C489S	probably benign	Het
Rpl10a	A	T	17: 28,549,607 (GRCm39)	H140L	probably benign	Het
Rpl7-ps8	A	T	15: 59,083,004 (GRCm39)		noncoding transcript	Het
Rtbdn	T	C	8: 85,681,638 (GRCm39)	F143S	probably damaging	Het
Scamp3	T	A	3: 89,089,600 (GRCm39)		probably benign	Het
Setd5	A	G	6: 113,114,922 (GRCm39)	S848G	probably damaging	Het
Sez6	T	C	11: 77,863,979 (GRCm39)	V487A	probably damaging	Het
Shc2	G	A	10: 79,459,706 (GRCm39)	P413S	probably benign	Het
Sipa1l3	T	C	7: 29,070,618 (GRCm39)	N966S	probably damaging	Het
Slc39a8	A	G	3: 135,554,790 (GRCm39)	E78G	probably benign	Het
Slitrk3	T	C	3: 72,957,981 (GRCm39)	T264A	probably benign	Het
Spire2	G	A	8: 124,084,940 (GRCm39)	R260H	probably damaging	Het
Stk39	T	A	2: 68,051,292 (GRCm39)	I518F	probably damaging	Het
Tardbp	T	A	4: 148,703,813 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,066,456 (GRCm39)	Y2335H	probably benign	Het
Tesl1	G	A	X: 23,773,480 (GRCm39)	G327E	probably damaging	Het
Tll2	A	G	19: 41,105,705 (GRCm39)	V358A	probably benign	Het
Tmem268	C	G	4: 63,486,777 (GRCm39)	S100C	probably damaging	Het
Tnfsf9	A	G	17: 57,412,444 (GRCm39)	T5A	probably benign	Het
Trappc10	G	T	10: 78,052,994 (GRCm39)	F260L	possibly damaging	Het
Trim5	A	G	7: 103,914,630 (GRCm39)	Y480H	probably damaging	Het
Trmt112	T	C	19: 6,888,121 (GRCm39)	V91A	probably benign	Het
Ttn	T	A	2: 76,577,379 (GRCm39)	K22759*	probably null	Het
Ttn	C	A	2: 76,748,988 (GRCm39)	L4020F	probably benign	Het
Ubash3b	A	G	9: 40,948,755 (GRCm39)	C187R	possibly damaging	Het
Ube3b	T	C	5: 114,544,318 (GRCm39)	F572L	probably benign	Het
Ubr5	A	G	15: 38,004,353 (GRCm39)	V1332A	probably damaging	Het
Ubtd2	C	A	11: 32,466,320 (GRCm39)	R180S	probably damaging	Het
Ubtf	A	G	11: 102,197,913 (GRCm39)	S673P	probably damaging	Het
Ubtfl1	A	T	9: 18,320,487 (GRCm39)	D5V	possibly damaging	Het
Usp17la	G	A	7: 104,510,330 (GRCm39)	V312I	possibly damaging	Het
Usp17ld	G	T	7: 102,899,655 (GRCm39)	H426N	probably benign	Het
Usp34	A	G	11: 23,408,086 (GRCm39)		probably benign	Het
Vmn1r199	A	T	13: 22,567,575 (GRCm39)	T290S	possibly damaging	Het
Vmn1r33	T	C	6: 66,589,089 (GRCm39)	N155S	probably benign	Het
Vmn2r28	T	A	7: 5,489,463 (GRCm39)	I459L	probably benign	Het
Vmn2r6	T	A	3: 64,445,207 (GRCm39)	K839N	probably damaging	Het
Vmn2r65	A	G	7: 84,589,819 (GRCm39)	I699T	probably damaging	Het
Vps16	A	G	2: 130,281,372 (GRCm39)	S235G	probably benign	Het
Vwde	T	C	6: 13,192,641 (GRCm39)	I421V	possibly damaging	Het
Xiap	T	C	X: 41,183,342 (GRCm39)	F23L	probably benign	Het
Xkr7	A	G	2: 152,896,300 (GRCm39)	T385A	probably benign	Het
Znfx1	T	C	2: 166,881,746 (GRCm39)	Y217C	probably damaging	Het

Other mutations in Slc8a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Slc8a3	APN	12	81,361,343 (GRCm39)	missense	probably benign
IGL01315:Slc8a3	APN	12	81,361,169 (GRCm39)	missense	probably damaging	0.97
IGL01365:Slc8a3	APN	12	81,362,150 (GRCm39)	missense	probably damaging	0.99
IGL01610:Slc8a3	APN	12	81,362,576 (GRCm39)	missense	probably damaging	1.00
IGL02227:Slc8a3	APN	12	81,362,457 (GRCm39)	missense	probably damaging	1.00
IGL02299:Slc8a3	APN	12	81,361,998 (GRCm39)	missense	probably damaging	0.98
IGL02548:Slc8a3	APN	12	81,250,930 (GRCm39)	splice site	probably benign
IGL02646:Slc8a3	APN	12	81,361,868 (GRCm39)	missense	probably damaging	1.00
IGL03135:Slc8a3	APN	12	81,249,023 (GRCm39)	missense	probably damaging	1.00
R0050:Slc8a3	UTSW	12	81,362,039 (GRCm39)	missense	probably damaging	1.00
R0627:Slc8a3	UTSW	12	81,361,616 (GRCm39)	missense	probably damaging	1.00
R0648:Slc8a3	UTSW	12	81,361,220 (GRCm39)	missense	probably damaging	1.00
R1342:Slc8a3	UTSW	12	81,362,790 (GRCm39)	missense	probably damaging	0.99
R1437:Slc8a3	UTSW	12	81,362,760 (GRCm39)	missense	probably damaging	0.99
R1470:Slc8a3	UTSW	12	81,246,484 (GRCm39)	missense	probably benign
R1470:Slc8a3	UTSW	12	81,246,484 (GRCm39)	missense	probably benign
R1557:Slc8a3	UTSW	12	81,362,331 (GRCm39)	missense	probably damaging	1.00
R1563:Slc8a3	UTSW	12	81,251,781 (GRCm39)	missense	possibly damaging	0.47
R1918:Slc8a3	UTSW	12	81,361,618 (GRCm39)	missense	probably damaging	0.99
R1930:Slc8a3	UTSW	12	81,361,220 (GRCm39)	missense	probably damaging	1.00
R1931:Slc8a3	UTSW	12	81,361,220 (GRCm39)	missense	probably damaging	1.00
R2232:Slc8a3	UTSW	12	81,361,994 (GRCm39)	missense	probably damaging	0.99
R2680:Slc8a3	UTSW	12	81,249,113 (GRCm39)	missense	probably damaging	0.99
R2941:Slc8a3	UTSW	12	81,361,953 (GRCm39)	missense	probably damaging	1.00
R3157:Slc8a3	UTSW	12	81,361,766 (GRCm39)	missense	probably damaging	1.00
R3159:Slc8a3	UTSW	12	81,361,766 (GRCm39)	missense	probably damaging	1.00
R3751:Slc8a3	UTSW	12	81,250,912 (GRCm39)	missense	probably damaging	1.00
R3859:Slc8a3	UTSW	12	81,361,646 (GRCm39)	missense	probably damaging	0.99
R4240:Slc8a3	UTSW	12	81,361,950 (GRCm39)	missense	probably damaging	0.99
R4527:Slc8a3	UTSW	12	81,362,627 (GRCm39)	missense	probably damaging	1.00
R4547:Slc8a3	UTSW	12	81,361,625 (GRCm39)	missense	possibly damaging	0.76
R4951:Slc8a3	UTSW	12	81,362,760 (GRCm39)	missense	probably damaging	0.99
R4951:Slc8a3	UTSW	12	81,361,473 (GRCm39)	missense	probably benign	0.31
R5022:Slc8a3	UTSW	12	81,246,332 (GRCm39)	missense	probably damaging	0.96
R5049:Slc8a3	UTSW	12	81,260,906 (GRCm39)	missense	probably damaging	1.00
R5104:Slc8a3	UTSW	12	81,260,908 (GRCm39)	missense	probably null	0.34
R5122:Slc8a3	UTSW	12	81,361,032 (GRCm39)	critical splice donor site	probably null
R5183:Slc8a3	UTSW	12	81,361,265 (GRCm39)	missense	possibly damaging	0.79
R5629:Slc8a3	UTSW	12	81,246,405 (GRCm39)	missense	probably damaging	1.00
R6062:Slc8a3	UTSW	12	81,361,124 (GRCm39)	missense	probably damaging	1.00
R6218:Slc8a3	UTSW	12	81,246,341 (GRCm39)	missense	probably benign
R6279:Slc8a3	UTSW	12	81,361,752 (GRCm39)	missense	probably damaging	0.99
R6300:Slc8a3	UTSW	12	81,361,752 (GRCm39)	missense	probably damaging	0.99
R6416:Slc8a3	UTSW	12	81,362,401 (GRCm39)	missense	probably damaging	1.00
R6790:Slc8a3	UTSW	12	81,361,206 (GRCm39)	missense	probably benign	0.00
R6999:Slc8a3	UTSW	12	81,361,529 (GRCm39)	missense	probably benign	0.06
R7195:Slc8a3	UTSW	12	81,361,047 (GRCm39)	missense	possibly damaging	0.95
R7268:Slc8a3	UTSW	12	81,361,827 (GRCm39)	missense	probably damaging	0.98
R7288:Slc8a3	UTSW	12	81,263,598 (GRCm39)	missense	possibly damaging	0.70
R7383:Slc8a3	UTSW	12	81,362,579 (GRCm39)	missense	probably damaging	1.00
R7392:Slc8a3	UTSW	12	81,361,577 (GRCm39)	missense	probably damaging	0.99
R7394:Slc8a3	UTSW	12	81,260,832 (GRCm39)	splice site	probably null
R7549:Slc8a3	UTSW	12	81,361,544 (GRCm39)	missense	probably benign	0.06
R7657:Slc8a3	UTSW	12	81,361,158 (GRCm39)	missense	probably damaging	1.00
R7699:Slc8a3	UTSW	12	81,361,247 (GRCm39)	missense	probably damaging	1.00
R7759:Slc8a3	UTSW	12	81,361,325 (GRCm39)	missense	probably benign
R7960:Slc8a3	UTSW	12	81,263,506 (GRCm39)	missense	probably benign	0.00
R7985:Slc8a3	UTSW	12	81,361,767 (GRCm39)	missense	probably damaging	1.00
R8059:Slc8a3	UTSW	12	81,249,032 (GRCm39)	missense	probably damaging	1.00
R8192:Slc8a3	UTSW	12	81,246,455 (GRCm39)	missense	probably damaging	1.00
R8397:Slc8a3	UTSW	12	81,246,542 (GRCm39)	missense	probably benign	0.45
R8413:Slc8a3	UTSW	12	81,361,452 (GRCm39)	missense	probably damaging	0.97
R8681:Slc8a3	UTSW	12	81,361,914 (GRCm39)	missense	probably benign
R9060:Slc8a3	UTSW	12	81,260,852 (GRCm39)	missense	probably benign	0.45
R9061:Slc8a3	UTSW	12	81,263,540 (GRCm39)	missense	probably damaging	0.99
R9267:Slc8a3	UTSW	12	81,361,208 (GRCm39)	missense	possibly damaging	0.77
R9416:Slc8a3	UTSW	12	81,361,838 (GRCm39)	missense	probably benign	0.06
R9519:Slc8a3	UTSW	12	81,362,326 (GRCm39)	missense	probably benign	0.30
R9531:Slc8a3	UTSW	12	81,361,997 (GRCm39)	missense	probably damaging	1.00
X0026:Slc8a3	UTSW	12	81,362,061 (GRCm39)	missense	probably benign	0.22
X0028:Slc8a3	UTSW	12	81,361,717 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc8a3	UTSW	12	81,362,650 (GRCm39)	missense	probably benign	0.13
Z1177:Slc8a3	UTSW	12	81,361,474 (GRCm39)	missense	possibly damaging	0.92

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