Mutagenetix > Incidental Mutation

Incidental Mutation 'R2922:Slc24a2'

255565

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

040507-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R2922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86983124-87230477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86991354 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 660 (V660A)

Ref Sequence

ENSEMBL: ENSMUSP00000043937 (fasta)

Gene Model

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

AlphaFold

Q14BI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044990
AA Change: V660A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043937
Gene: ENSMUSG00000037996
AA Change: V660A

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 benign
Transcript: ENSMUST00000107155
AA Change: V643A

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102773
Gene: ENSMUSG00000037996
AA Change: V643A

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 benign
Transcript: ENSMUST00000107157
AA Change: V664A

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102775
Gene: ENSMUSG00000037996
AA Change: V664A

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 benign
Transcript: ENSMUST00000107158
AA Change: V709A

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102776
Gene: ENSMUSG00000037996
AA Change: V709A

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

0.1008

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,861,534	D90G	possibly damaging	Het
Atp6v0a2	C	T	5: 124,717,917	T656M	possibly damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Bsn	C	T	9: 108,108,186	V2890M	unknown	Het
Bsn	T	C	9: 108,115,469	E1028G	probably damaging	Het
Ccdc116	T	C	16: 17,142,443	H170R	probably benign	Het
Cdk11b	CAGAAGAAG	CAGAAG	4: 155,640,744		probably benign	Het
Clpb	A	G	7: 101,722,828	D257G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Dlgap5	A	G	14: 47,390,441		probably null	Het
Dmwd	T	C	7: 19,076,345	F26L	probably damaging	Het
Eif5b	T	C	1: 38,018,019		probably benign	Het
Flii	A	G	11: 60,718,916	Y622H	probably damaging	Het
Gbp7	A	T	3: 142,534,572	E17V	probably benign	Het
Ghrh	T	C	2: 157,331,877		probably null	Het
Gm20939	T	A	17: 94,877,293	H456Q	probably damaging	Het
Golga4	T	A	9: 118,559,343	S1844R	possibly damaging	Het
Hgd	T	C	16: 37,618,968	F213L	probably damaging	Het
Hoxb1	T	C	11: 96,366,293	L156P	probably benign	Het
Itga11	A	G	9: 62,768,630		probably benign	Het
Kcnn3	T	C	3: 89,521,022	V185A	probably damaging	Het
Lrriq1	T	C	10: 103,214,675	T739A	probably benign	Het
Mib1	C	T	18: 10,760,831	Q374*	probably null	Het
Myh9	A	G	15: 77,813,184	L10P	probably damaging	Het
Ncor2	A	G	5: 125,055,791	F44S	probably damaging	Het
Nr3c1	C	A	18: 39,487,103	A44S	possibly damaging	Het
Olfr148	G	A	9: 39,613,764	V66I	probably benign	Het
Olfr644	A	G	7: 104,068,587	V148A	probably benign	Het
Ovch2	A	G	7: 107,790,389	L317P	possibly damaging	Het
Pcolce2	T	A	9: 95,694,714	L346Q	probably damaging	Het
Rdm1	T	A	11: 101,630,890	L157H	possibly damaging	Het
Rptn	A	G	3: 93,398,708	Y1116C	possibly damaging	Het
Scn7a	A	G	2: 66,700,207		probably benign	Het
Tet3	A	G	6: 83,368,512	S1648P	probably damaging	Het
Tmem198b	G	A	10: 128,802,193	T167I	probably damaging	Het
Tmem2	A	G	19: 21,817,939	D732G	possibly damaging	Het
Tmx1	T	A	12: 70,466,121	C268S	probably benign	Het
Ubr4	A	G	4: 139,479,500	N4886S	possibly damaging	Het
Usp47	A	G	7: 112,093,198	S956G	probably damaging	Het
Vmn2r60	T	A	7: 42,141,035	V482E	probably damaging	Het
Zfhx4	C	T	3: 5,403,664	P2986S	probably damaging	Het
Zfp507	T	C	7: 35,794,799	E273G	probably damaging	Het

Other mutations in Slc24a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Slc24a2	APN	4	87227796	missense	probably benign	0.01
IGL02080:Slc24a2	APN	4	87227146	missense	probably damaging	1.00
IGL03121:Slc24a2	APN	4	87226906	missense	probably benign	0.00
G1patch:Slc24a2	UTSW	4	87226882	critical splice donor site	probably null
PIT4403001:Slc24a2	UTSW	4	87032286	missense	probably benign	0.45
R0024:Slc24a2	UTSW	4	87028240	unclassified	probably benign
R0024:Slc24a2	UTSW	4	87028240	unclassified	probably benign
R0372:Slc24a2	UTSW	4	87227292	missense	probably damaging	1.00
R1034:Slc24a2	UTSW	4	87032275	missense	probably damaging	0.99
R1577:Slc24a2	UTSW	4	86991411	missense	probably damaging	1.00
R1776:Slc24a2	UTSW	4	87176289	missense	probably benign	0.01
R1955:Slc24a2	UTSW	4	87073244	missense	probably damaging	1.00
R2043:Slc24a2	UTSW	4	86996645	missense	probably damaging	1.00
R2091:Slc24a2	UTSW	4	87011646	missense	probably damaging	1.00
R2114:Slc24a2	UTSW	4	86991355	missense	probably benign	0.07
R2921:Slc24a2	UTSW	4	86991354	missense	possibly damaging	0.46
R2924:Slc24a2	UTSW	4	87011724	missense	probably benign	0.34
R3806:Slc24a2	UTSW	4	87227784	missense	possibly damaging	0.92
R3933:Slc24a2	UTSW	4	87176185	missense	probably benign
R4052:Slc24a2	UTSW	4	87227205	missense	probably damaging	1.00
R4207:Slc24a2	UTSW	4	87227205	missense	probably damaging	1.00
R4466:Slc24a2	UTSW	4	87227862	utr 5 prime	probably benign
R4531:Slc24a2	UTSW	4	86991478	missense	possibly damaging	0.91
R4561:Slc24a2	UTSW	4	87227397	missense	probably damaging	1.00
R4808:Slc24a2	UTSW	4	87032238	missense	probably benign	0.01
R4884:Slc24a2	UTSW	4	86991508	missense	probably damaging	0.98
R4893:Slc24a2	UTSW	4	87226908	missense	probably damaging	0.98
R4936:Slc24a2	UTSW	4	87227347	missense	probably damaging	1.00
R5035:Slc24a2	UTSW	4	87011706	missense	possibly damaging	0.48
R5171:Slc24a2	UTSW	4	86996634	missense	probably benign	0.40
R5369:Slc24a2	UTSW	4	86991388	missense	probably damaging	0.99
R5924:Slc24a2	UTSW	4	87011588	splice site	probably null
R6046:Slc24a2	UTSW	4	86996645	missense	probably damaging	1.00
R6725:Slc24a2	UTSW	4	87226882	critical splice donor site	probably null
R6756:Slc24a2	UTSW	4	87176292	missense	probably benign
R7087:Slc24a2	UTSW	4	86991219	splice site	probably null
R7804:Slc24a2	UTSW	4	86991537	missense	probably damaging	1.00
R8003:Slc24a2	UTSW	4	87176315	missense	probably benign	0.04
R8058:Slc24a2	UTSW	4	86991513	missense	probably damaging	1.00
R8428:Slc24a2	UTSW	4	87227100	missense	probably damaging	1.00
R8529:Slc24a2	UTSW	4	87028280	missense	possibly damaging	0.51
R9656:Slc24a2	UTSW	4	87049907	missense	probably damaging	1.00
X0003:Slc24a2	UTSW	4	86991447	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGAGTCATTTCATCAGGCAAG -3'
(R):5'- TGACTGTCAGCAGCAATGGC -3'

Sequencing Primer
(F):5'- CCTGTGAAGTGAATGTCCCCATG -3'
(R):5'- AGCAGCAATGGCCTCTTCTG -3'

Posted On

2014-12-29