Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Slc24a2'

318957

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

041036-MU

Accession Numbers

Essential gene?

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

Stock #

R4207 (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 87227205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 204 (V204A)

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: V204A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043937
Gene: ENSMUSG00000037996
AA Change: V204A

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: V204A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102773
Gene: ENSMUSG00000037996
AA Change: V204A

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: V204A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102775
Gene: ENSMUSG00000037996
AA Change: V204A

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: V204A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102776
Gene: ENSMUSG00000037996
AA Change: V204A

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: ENSMUST00000134248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155361

Meta Mutation Damage Score

0.2800

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Flg	A	G	3: 93,279,862	Y207C	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,909,755	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Mthfsd	A	G	8: 121,105,626	V133A	probably damaging	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Pld5	T	G	1: 175,993,875	T242P	probably damaging	Het
Rbm5	A	G	9: 107,750,483	S420P	probably benign	Het
Rhag	A	T	17: 40,831,653	I250F	probably damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Scaf4	C	T	16: 90,260,215	V83I	unknown	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Spns3	A	T	11: 72,538,361	V199E	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het
Zfp81	C	T	17: 33,334,916	C308Y	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
R2922: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
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'- AGAGGAGTAAGCTTTCCCACC -3'
(R):5'- CTGCATGTCATTGGGATGATC -3'

Sequencing Primer
(F):5'- GGAGTAAGCTTTCCCACCACATG -3'
(R):5'- CTATATGTTCATAGCATTAGCCATCG -3'

Posted On

2015-06-10