Mutagenetix > Incidental Mutation

Incidental Mutation 'R6046:Slc24a2'

483274

Institutional Source

Beutler Lab

Gene Symbol

Slc24a2

Ensembl Gene

ENSMUSG00000037996

Gene Name

solute carrier family 24 (sodium/potassium/calcium exchanger), member 2

Synonyms

6330417K15Rik

MMRRC Submission

044214-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86901361-87148714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86914882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 585 (M585T)

Ref Sequence

ENSEMBL: ENSMUSP00000102776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044990] [ENSMUST00000107155] [ENSMUST00000107157] [ENSMUST00000107158]

AlphaFold

Q14BI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000044990
AA Change: M536T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043937
Gene: ENSMUSG00000037996
AA Change: M536T

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
Pfam:Na_Ca_ex	149	281	3.7e-34	PFAM
low complexity region	445	457	N/A	INTRINSIC
transmembrane domain	472	489	N/A	INTRINSIC
Pfam:Na_Ca_ex	509	648	8.9e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107155
AA Change: M519T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102773
Gene: ENSMUSG00000037996
AA Change: M519T

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
Pfam:Na_Ca_ex	149	281	3.6e-34	PFAM
low complexity region	428	440	N/A	INTRINSIC
transmembrane domain	455	472	N/A	INTRINSIC
Pfam:Na_Ca_ex	492	631	8.5e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107157
AA Change: M540T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102775
Gene: ENSMUSG00000037996
AA Change: M540T

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
Pfam:Na_Ca_ex	139	283	7.2e-32	PFAM
transmembrane domain	476	493	N/A	INTRINSIC
Pfam:Na_Ca_ex	503	654	4.4e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107158
AA Change: M585T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102776
Gene: ENSMUSG00000037996
AA Change: M585T

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
Pfam:Na_Ca_ex	139	283	8e-32	PFAM
transmembrane domain	521	538	N/A	INTRINSIC
Pfam:Na_Ca_ex	548	699	4.9e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140780

Meta Mutation Damage Score

0.5919

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (78/78)

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 calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mutation of this gene results in loss of long term potentiation and an increase in long term depression and deficits in motor learning and spatial working memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	T	C	10: 85,223,947 (GRCm39)	V252A	unknown	Het
Actn4	T	C	7: 28,604,044 (GRCm39)	I406V	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ank1	T	A	8: 23,606,114 (GRCm39)	F1124I	probably damaging	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 64,922,910 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,476,790 (GRCm39)	V1000L	probably benign	Het
Bnip3	A	G	7: 138,511,033 (GRCm39)		probably benign	Het
Btnl6	T	A	17: 34,727,371 (GRCm39)	R386S	probably damaging	Het
Calcrl	A	G	2: 84,205,658 (GRCm39)	V11A	probably benign	Het
Cc2d1a	G	T	8: 84,863,571 (GRCm39)	A597D	possibly damaging	Het
Celsr3	A	G	9: 108,714,350 (GRCm39)	T1960A	probably benign	Het
Cfb	T	A	17: 35,081,078 (GRCm39)		probably null	Het
Chd8	A	G	14: 52,458,528 (GRCm39)	I860T	possibly damaging	Het
Col28a1	A	G	6: 8,168,102 (GRCm39)		probably null	Het
Crhr2	T	A	6: 55,068,277 (GRCm39)	T428S	probably damaging	Het
Crybg2	A	T	4: 133,819,388 (GRCm39)	I1753F	probably damaging	Het
Ctsq	A	T	13: 61,186,955 (GRCm39)	V46E	probably benign	Het
Cxcr1	T	C	1: 74,231,440 (GRCm39)	E194G	probably damaging	Het
Dop1a	A	T	9: 86,397,396 (GRCm39)	H900L	probably damaging	Het
Dpyd	T	A	3: 119,225,224 (GRCm39)	M999K	probably benign	Het
Gbp3	A	C	3: 142,273,560 (GRCm39)	D369A	possibly damaging	Het
Glmp	A	G	3: 88,232,495 (GRCm39)	E36G	probably damaging	Het
Gm10113	T	C	13: 46,330,919 (GRCm39)		noncoding transcript	Het
Gm6486	T	A	5: 3,120,846 (GRCm39)		noncoding transcript	Het
Gm973	T	G	1: 59,671,509 (GRCm39)	L891R	unknown	Het
Heatr3	C	T	8: 88,866,582 (GRCm39)	T8M	probably damaging	Het
Herc1	A	G	9: 66,352,831 (GRCm39)	M2106V	probably damaging	Het
Hfm1	A	T	5: 107,046,509 (GRCm39)		probably null	Het
Hspa14	A	G	2: 3,490,801 (GRCm39)	V462A	possibly damaging	Het
Hspa5	C	A	2: 34,665,761 (GRCm39)	T535K	possibly damaging	Het
Ift140	A	G	17: 25,274,563 (GRCm39)	D745G	probably benign	Het
Ift27	A	T	15: 78,057,981 (GRCm39)	C8S	possibly damaging	Het
Irak1bp1	G	A	9: 82,728,616 (GRCm39)	W182*	probably null	Het
Itga3	A	G	11: 94,953,541 (GRCm39)	I236T	probably benign	Het
Kctd15	T	A	7: 34,349,547 (GRCm39)	N26Y	possibly damaging	Het
Kdm1b	T	C	13: 47,232,729 (GRCm39)	V733A	possibly damaging	Het
Lhx8	A	T	3: 154,027,340 (GRCm39)	L234H	probably damaging	Het
Lrp2	T	A	2: 69,337,098 (GRCm39)	T1225S	probably damaging	Het
Lrrn1	G	A	6: 107,545,488 (GRCm39)	D429N	probably benign	Het
Mettl3	A	T	14: 52,536,243 (GRCm39)	N200K	possibly damaging	Het
Mixl1	G	T	1: 180,524,336 (GRCm39)	A81D	possibly damaging	Het
Mroh2b	T	C	15: 4,980,763 (GRCm39)	I1444T	probably benign	Het
Muc15	T	A	2: 110,561,786 (GRCm39)	L74*	probably null	Het
Olfm2	T	A	9: 20,579,824 (GRCm39)	Y317F	probably damaging	Het
Or52a33	C	T	7: 103,288,886 (GRCm39)	V154M	probably benign	Het
Or5b114-ps1	G	A	19: 13,352,698 (GRCm39)	S124N	probably benign	Het
Or5p54	T	A	7: 107,554,001 (GRCm39)	I51N	probably benign	Het
Pclo	A	T	5: 14,763,302 (GRCm39)	Y3925F	unknown	Het
Pik3c2g	A	T	6: 139,599,137 (GRCm39)	R84S	probably damaging	Het
Pik3c2g	A	G	6: 139,842,518 (GRCm39)	Q449R	probably damaging	Het
Psg28	T	C	7: 18,160,305 (GRCm39)	E297G	probably damaging	Het
Qrich2	A	T	11: 116,337,832 (GRCm39)		probably benign	Het
Rgs9	A	G	11: 109,130,386 (GRCm39)	I363T	probably damaging	Het
Rnpepl1	A	G	1: 92,844,543 (GRCm39)	D345G	probably damaging	Het
Rtn4	T	A	11: 29,658,023 (GRCm39)	F726I	probably damaging	Het
Sart3	A	T	5: 113,893,507 (GRCm39)	I330N	probably damaging	Het
Scn5a	T	C	9: 119,391,440 (GRCm39)	D84G	probably damaging	Het
Sema4a	T	C	3: 88,348,008 (GRCm39)	T438A	probably damaging	Het
Sfxn1	A	C	13: 54,242,961 (GRCm39)	Y73S	probably benign	Het
Slc26a7	A	G	4: 14,505,471 (GRCm39)	V656A	probably benign	Het
Smok2a	T	G	17: 13,445,021 (GRCm39)	D199E	probably benign	Het
Tbc1d10c	T	C	19: 4,235,030 (GRCm39)	I344V	probably benign	Het
Tll1	A	T	8: 64,506,925 (GRCm39)	Y605*	probably null	Het
Trim75	G	A	8: 65,435,535 (GRCm39)	P305L	probably damaging	Het
Unc13c	T	C	9: 73,838,166 (GRCm39)	N895S	probably benign	Het
Vmn2r25	A	T	6: 123,799,876 (GRCm39)	I822N	probably damaging	Het
Wasf3	T	G	5: 146,407,166 (GRCm39)	D495E	unknown	Het
Wdhd1	T	A	14: 47,510,667 (GRCm39)	K119*	probably null	Het
Wnt2b	T	A	3: 104,858,339 (GRCm39)	D310V	probably damaging	Het
Zfat	G	T	15: 68,052,626 (GRCm39)	D389E	probably damaging	Het
Zfp282	G	A	6: 47,857,102 (GRCm39)	V112M	probably damaging	Het
Zfp617	A	T	8: 72,687,257 (GRCm39)	K529I	probably damaging	Het
Zfp866	A	T	8: 70,218,373 (GRCm39)	C416S	probably damaging	Het
Zfp991	G	A	4: 147,264,222 (GRCm39)	G533D	probably benign	Het

Other mutations in Slc24a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Slc24a2	APN	4	87,146,033 (GRCm39)	missense	probably benign	0.01
IGL02080:Slc24a2	APN	4	87,145,383 (GRCm39)	missense	probably damaging	1.00
IGL03121:Slc24a2	APN	4	87,145,143 (GRCm39)	missense	probably benign	0.00
G1patch:Slc24a2	UTSW	4	87,145,119 (GRCm39)	critical splice donor site	probably null
PIT4403001:Slc24a2	UTSW	4	86,950,523 (GRCm39)	missense	probably benign	0.45
R0024:Slc24a2	UTSW	4	86,946,477 (GRCm39)	unclassified	probably benign
R0024:Slc24a2	UTSW	4	86,946,477 (GRCm39)	unclassified	probably benign
R0372:Slc24a2	UTSW	4	87,145,529 (GRCm39)	missense	probably damaging	1.00
R1034:Slc24a2	UTSW	4	86,950,512 (GRCm39)	missense	probably damaging	0.99
R1577:Slc24a2	UTSW	4	86,909,648 (GRCm39)	missense	probably damaging	1.00
R1776:Slc24a2	UTSW	4	87,094,526 (GRCm39)	missense	probably benign	0.01
R1955:Slc24a2	UTSW	4	86,991,481 (GRCm39)	missense	probably damaging	1.00
R2043:Slc24a2	UTSW	4	86,914,882 (GRCm39)	missense	probably damaging	1.00
R2091:Slc24a2	UTSW	4	86,929,883 (GRCm39)	missense	probably damaging	1.00
R2114:Slc24a2	UTSW	4	86,909,592 (GRCm39)	missense	probably benign	0.07
R2921:Slc24a2	UTSW	4	86,909,591 (GRCm39)	missense	possibly damaging	0.46
R2922:Slc24a2	UTSW	4	86,909,591 (GRCm39)	missense	possibly damaging	0.46
R2924:Slc24a2	UTSW	4	86,929,961 (GRCm39)	missense	probably benign	0.34
R3806:Slc24a2	UTSW	4	87,146,021 (GRCm39)	missense	possibly damaging	0.92
R3933:Slc24a2	UTSW	4	87,094,422 (GRCm39)	missense	probably benign
R4052:Slc24a2	UTSW	4	87,145,442 (GRCm39)	missense	probably damaging	1.00
R4207:Slc24a2	UTSW	4	87,145,442 (GRCm39)	missense	probably damaging	1.00
R4466:Slc24a2	UTSW	4	87,146,099 (GRCm39)	utr 5 prime	probably benign
R4531:Slc24a2	UTSW	4	86,909,715 (GRCm39)	missense	possibly damaging	0.91
R4561:Slc24a2	UTSW	4	87,145,634 (GRCm39)	missense	probably damaging	1.00
R4808:Slc24a2	UTSW	4	86,950,475 (GRCm39)	missense	probably benign	0.01
R4884:Slc24a2	UTSW	4	86,909,745 (GRCm39)	missense	probably damaging	0.98
R4893:Slc24a2	UTSW	4	87,145,145 (GRCm39)	missense	probably damaging	0.98
R4936:Slc24a2	UTSW	4	87,145,584 (GRCm39)	missense	probably damaging	1.00
R5035:Slc24a2	UTSW	4	86,929,943 (GRCm39)	missense	possibly damaging	0.48
R5171:Slc24a2	UTSW	4	86,914,871 (GRCm39)	missense	probably benign	0.40
R5369:Slc24a2	UTSW	4	86,909,625 (GRCm39)	missense	probably damaging	0.99
R5924:Slc24a2	UTSW	4	86,929,825 (GRCm39)	splice site	probably null
R6725:Slc24a2	UTSW	4	87,145,119 (GRCm39)	critical splice donor site	probably null
R6756:Slc24a2	UTSW	4	87,094,529 (GRCm39)	missense	probably benign
R7087:Slc24a2	UTSW	4	86,909,456 (GRCm39)	splice site	probably null
R7804:Slc24a2	UTSW	4	86,909,774 (GRCm39)	missense	probably damaging	1.00
R8003:Slc24a2	UTSW	4	87,094,552 (GRCm39)	missense	probably benign	0.04
R8058:Slc24a2	UTSW	4	86,909,750 (GRCm39)	missense	probably damaging	1.00
R8428:Slc24a2	UTSW	4	87,145,337 (GRCm39)	missense	probably damaging	1.00
R8529:Slc24a2	UTSW	4	86,946,517 (GRCm39)	missense	possibly damaging	0.51
R9656:Slc24a2	UTSW	4	86,968,144 (GRCm39)	missense	probably damaging	1.00
X0003:Slc24a2	UTSW	4	86,909,684 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCCAGCTCATGTTTCTAC -3'
(R):5'- CCTGGGTATGGATGTTAACGC -3'

Sequencing Primer
(F):5'- GCTCATGTTTCTACAGCTTAGAAGAC -3'
(R):5'- GGATGTTAACGCTGTATAAACTCC -3'

Posted On

2017-07-14