Mutagenetix > Incidental Mutation

Incidental Mutation 'R9267:Slc8a3'

702633

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9267 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81197915-81333180 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81314434 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 537 (D537V)

Ref Sequence

ENSEMBL: ENSMUSP00000138735 (fasta)

Gene Model

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

AlphaFold

S4R2P9

Predicted Effect

SMART Domains

Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: D537V

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

possibly damaging
Transcript: ENSMUST00000085238
AA Change: D537V

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: D537V

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

possibly damaging
Transcript: ENSMUST00000182208
AA Change: D537V

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: D537V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (79/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,632,245		probably benign	Het
Abcd2	T	A	15: 91,179,220	T422S	possibly damaging	Het
Acsl3	T	G	1: 78,696,906	I390S	probably damaging	Het
Adad1	T	A	3: 37,084,925		probably benign	Het
Adam3	A	G	8: 24,681,589	V742A	probably benign	Het
Adgra3	A	T	5: 49,998,276	I450K	possibly damaging	Het
Adgrb2	T	C	4: 129,992,108	S14P	possibly damaging	Het
Arfgef3	T	A	10: 18,599,280	I1553F	probably damaging	Het
Btbd16	C	T	7: 130,815,786	R344C	probably damaging	Het
Ccdc27	A	G	4: 154,032,984	L502P	probably damaging	Het
Ccdc50	T	A	16: 27,389,950	L5Q		Het
Cdh16	C	T	8: 104,615,202	G777D	probably damaging	Het
Cntn2	C	A	1: 132,521,283	V663L	probably benign	Het
Cpne4	T	A	9: 105,007,634	V343E	probably damaging	Het
Dctpp1	A	T	7: 127,257,103	I149N	probably benign	Het
Dlg5	T	C	14: 24,154,677	N1266S	probably damaging	Het
Dst	A	G	1: 34,193,064	D3246G	probably benign	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Erbin	T	C	13: 103,850,784	T423A	probably damaging	Het
Erich5	C	T	15: 34,471,417	P264L	possibly damaging	Het
Fam90a1a	A	G	8: 21,963,075	M149V	probably benign	Het
Fbxl18	C	T	5: 142,895,115	G62R	possibly damaging	Het
Fech	A	G	18: 64,458,196	S386P	possibly damaging	Het
Fhl3	T	A	4: 124,707,705		probably null	Het
Fkbp5	A	G	17: 28,410,584	S256P	probably benign	Het
Frem2	A	G	3: 53,657,083	M1T	probably null	Het
Galnt5	T	C	2: 58,035,208	F834L	possibly damaging	Het
Gm3618	G	T	14: 6,314,964	T99N	unknown	Het
Gm884	A	T	11: 103,604,580	D2804E	unknown	Het
Gm9195	T	A	14: 72,463,106	Q1127L	possibly damaging	Het
Gpsm1	A	G	2: 26,346,823	D643G	probably damaging	Het
Grm4	A	G	17: 27,435,209	V589A	possibly damaging	Het
Gskip	T	A	12: 105,698,793	F30L	probably benign	Het
Haus3	T	A	5: 34,154,108		probably null	Het
Heatr1	T	C	13: 12,406,608	F463S	probably damaging	Het
Hmcn1	G	A	1: 150,597,989	S4851F	probably benign	Het
Il16	A	C	7: 83,722,549	F16L	probably benign	Het
Itga1	C	A	13: 115,049,388	C26F	possibly damaging	Het
Itga6	A	G	2: 71,838,412	E565G	probably benign	Het
Itgb4	A	G	11: 115,979,639	H98R	probably benign	Het
Kidins220	T	A	12: 24,988,559	S37T	probably benign	Het
Lrrk2	C	T	15: 91,700,426	L349F	probably damaging	Het
Malrd1	T	G	2: 16,255,266	I2099S	unknown	Het
Mapk8ip1	A	G	2: 92,386,369	I492T	possibly damaging	Het
Mest	T	A	6: 30,742,142	D68E		Het
Mthfd1l	A	G	10: 3,984,154	D162G	probably benign	Het
Nalcn	A	T	14: 123,281,155	D1657E	probably benign	Het
Nbeal2	C	A	9: 110,633,047	V1475F	probably damaging	Het
Nf1	C	A	11: 79,440,890	Q684K	possibly damaging	Het
Olfr1116	T	C	2: 87,268,982	L67P	possibly damaging	Het
Olfr1354	A	G	10: 78,916,969	N43S	probably damaging	Het
Olfr1411	A	T	1: 92,597,272	H251L	probably damaging	Het
Olfr1411	A	T	1: 92,597,274	M252L	probably benign	Het
Olfr348	A	T	2: 36,786,518		probably benign	Het
Opn5	T	A	17: 42,592,902	T181S	probably damaging	Het
Orc4	T	A	2: 48,937,522	R20*	probably null	Het
Pik3ca	T	C	3: 32,438,062	Y270H	probably damaging	Het
Pkn2	T	C	3: 142,811,915	E474G	probably null	Het
Pnmal2	A	T	7: 16,945,234	N48Y	unknown	Het
Pnpla2	A	C	7: 141,456,590		probably benign	Het
Polr1a	G	A	6: 71,965,558	M1127I	probably benign	Het
Ptpre	A	C	7: 135,672,820	D507A	probably damaging	Het
Rab3gap2	T	C	1: 185,251,134	V490A	probably damaging	Het
Rab44	A	T	17: 29,135,364		probably benign	Het
Rchy1	G	T	5: 91,957,972	T39N	probably benign	Het
Ripor1	A	G	8: 105,621,431	D1146G	unknown	Het
Sh3yl1	A	T	12: 30,922,336	I35F	possibly damaging	Het
Slc22a5	A	G	11: 53,873,793	F276L	probably benign	Het
Smc4	T	A	3: 69,034,453	I1263N	probably damaging	Het
Snai2	A	T	16: 14,707,256	T209S	possibly damaging	Het
Stam2	A	T	2: 52,714,891	Y211N	probably damaging	Het
Stxbp1	A	G	2: 32,818,505	S83P	probably damaging	Het
Susd4	T	C	1: 182,888,824	F325L	probably benign	Het
Tmem245	A	G	4: 56,947,236	V59A	probably benign	Het
Tnk2	A	G	16: 32,675,671	D469G	probably damaging	Het
Tpx2	A	G	2: 152,890,597	D597G	probably damaging	Het
Ube2w	A	T	1: 16,541,787	S170R		Het
Vmn2r102	A	T	17: 19,676,666	I92F	probably damaging	Het
Vmn2r11	T	A	5: 109,052,063	E508V	possibly damaging	Het
Vmn2r30	T	A	7: 7,337,433	I21F	possibly damaging	Het
Yipf2	G	A	9: 21,590,193	T187M	possibly damaging	Het
Zbtb8a	T	A	4: 129,354,474	K335*	probably null	Het
Zfp609	T	C	9: 65,701,046	D1184G	possibly 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
R5057:Slc8a3	UTSW	12	81199558	missense	probably damaging	0.96
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
R9060:Slc8a3	UTSW	12	81214078	missense	probably benign	0.45
R9061:Slc8a3	UTSW	12	81216766	missense	probably damaging	0.99
R9416:Slc8a3	UTSW	12	81315064	missense	probably benign	0.06
R9519:Slc8a3	UTSW	12	81315552	missense	probably benign	0.30
R9531:Slc8a3	UTSW	12	81315223	missense	probably damaging	1.00
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'- TCCAGTAGTGTCTGCTGATCC -3'
(R):5'- TGTGAGGCTGAGCAATGTCC -3'

Sequencing Primer
(F):5'- CTGATCCCTCATACCTGTGATGAAAG -3'
(R):5'- CTGAGCAATGTCCGTGTAGAAG -3'

Posted On

2022-03-25