Mutagenetix > Incidental Mutation

Incidental Mutation 'R0372:Slc24a2'

30521

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

038578-MU

Accession Numbers

Essential gene?

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

Stock #

R0372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86901361-87148714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87145529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 175 (V175E)

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: V175E

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

SMART Domains

Protein: ENSMUSP00000043937
Gene: ENSMUSG00000037996
AA Change: V175E

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: V175E

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

SMART Domains

Protein: ENSMUSP00000102773
Gene: ENSMUSG00000037996
AA Change: V175E

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: V175E

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

SMART Domains

Protein: ENSMUSP00000102775
Gene: ENSMUSG00000037996
AA Change: V175E

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: V175E

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

SMART Domains

Protein: ENSMUSP00000102776
Gene: ENSMUSG00000037996
AA Change: V175E

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

0.9349

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

Validation Efficiency

97% (70/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	A	14: 64,210,931 (GRCm39)	Q99L	probably damaging	Het
Abca2	A	G	2: 25,327,365 (GRCm39)	Y641C	probably damaging	Het
Abhd10	A	G	16: 45,557,254 (GRCm39)		probably null	Het
Acan	G	T	7: 78,750,349 (GRCm39)	A1707S	probably benign	Het
Ankrd61	T	A	5: 143,827,993 (GRCm39)	R284S	probably benign	Het
Ap3d1	T	C	10: 80,559,401 (GRCm39)	K258E	probably damaging	Het
Arl6ip6	T	G	2: 53,092,933 (GRCm39)	F153V	probably damaging	Het
Atp2c2	C	A	8: 120,484,180 (GRCm39)	F930L	probably benign	Het
Avl9	T	C	6: 56,703,309 (GRCm39)		probably null	Het
Axin2	A	G	11: 108,814,159 (GRCm39)	S16G	probably damaging	Het
Axin2	T	A	11: 108,814,936 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,656,981 (GRCm39)	D282E	probably benign	Het
Ccny	A	T	18: 9,345,201 (GRCm39)	V191D	probably damaging	Het
Cdk11b	A	G	4: 155,725,957 (GRCm39)		probably benign	Het
Chd1	T	A	17: 17,607,552 (GRCm39)	C367S	probably benign	Het
Cnnm4	G	A	1: 36,537,091 (GRCm39)	V472M	probably damaging	Het
Cpb2	T	A	14: 75,479,817 (GRCm39)	I8N	probably benign	Het
Dusp11	A	G	6: 85,935,712 (GRCm39)		probably benign	Het
Elmo1	T	C	13: 20,756,629 (GRCm39)		probably null	Het
Gbf1	C	T	19: 46,274,143 (GRCm39)	P1726S	probably benign	Het
Hal	A	G	10: 93,343,415 (GRCm39)		probably benign	Het
Hlcs	T	C	16: 93,939,766 (GRCm39)	I671V	possibly damaging	Het
Ifnab	A	G	4: 88,609,071 (GRCm39)	S132P	probably benign	Het
Ing5	T	C	1: 93,740,142 (GRCm39)	I70T	probably damaging	Het
Ints1	T	C	5: 139,758,193 (GRCm39)	N228S	probably damaging	Het
Itgb6	T	A	2: 60,458,185 (GRCm39)	I523F	probably benign	Het
Kat2b	T	C	17: 53,945,565 (GRCm39)	F328S	possibly damaging	Het
Kbtbd3	A	T	9: 4,316,950 (GRCm39)	I34F	possibly damaging	Het
Klhl11	A	T	11: 100,354,348 (GRCm39)	I491N	probably damaging	Het
Lmo7	A	T	14: 102,155,489 (GRCm39)		probably benign	Het
Lrp1	G	T	10: 127,428,005 (GRCm39)	P523T	probably damaging	Het
Lrp1b	T	A	2: 40,620,810 (GRCm39)	D3556V	probably benign	Het
Lrp2	T	A	2: 69,365,387 (GRCm39)	H262L	probably benign	Het
Lrrc27	T	A	7: 138,806,103 (GRCm39)	I256K	probably benign	Het
Lrrc47	G	A	4: 154,104,089 (GRCm39)	R523K	probably benign	Het
Lrrc71	A	T	3: 87,653,084 (GRCm39)	S111T	probably benign	Het
Map3k7cl	T	C	16: 87,378,100 (GRCm39)	V72A	probably damaging	Het
Mphosph10	G	T	7: 64,038,603 (GRCm39)		probably benign	Het
Nlrp4a	T	C	7: 26,148,657 (GRCm39)		probably benign	Het
Nsd2	A	T	5: 34,048,895 (GRCm39)	M1140L	probably damaging	Het
Nt5dc3	T	C	10: 86,661,155 (GRCm39)	M440T	possibly damaging	Het
Oog4	A	T	4: 143,164,259 (GRCm39)	L424Q	probably damaging	Het
Or5h17	T	C	16: 58,820,450 (GRCm39)	V134A	probably benign	Het
Orc5	A	T	5: 22,738,782 (GRCm39)	Y160N	possibly damaging	Het
Papola	T	C	12: 105,785,097 (GRCm39)	F410L	probably benign	Het
Pcdh10	A	G	3: 45,333,932 (GRCm39)	E82G	probably damaging	Het
Pcdh20	T	C	14: 88,706,439 (GRCm39)	Y287C	probably damaging	Het
Pld1	T	A	3: 28,142,787 (GRCm39)		probably null	Het
Plekha8	G	A	6: 54,593,743 (GRCm39)		probably null	Het
Ppbp	C	T	5: 90,917,202 (GRCm39)	T93M	possibly damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Rab3gap2	C	T	1: 184,994,891 (GRCm39)	T810M	possibly damaging	Het
Rassf9	A	G	10: 102,381,872 (GRCm39)	N418S	possibly damaging	Het
Rnf20	C	G	4: 49,650,176 (GRCm39)	R582G	possibly damaging	Het
Serpine2	T	C	1: 79,799,147 (GRCm39)	I36V	probably damaging	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sned1	T	C	1: 93,213,673 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spg11	GCC	G	2: 121,889,928 (GRCm39)		probably null	Het
Tecrl	C	T	5: 83,442,506 (GRCm39)	C189Y	probably damaging	Het
Tert	A	G	13: 73,797,110 (GRCm39)	D1116G	probably damaging	Het
Thnsl2	T	C	6: 71,116,774 (GRCm39)	Y126C	probably damaging	Het
Tll2	T	C	19: 41,171,752 (GRCm39)		probably null	Het
Ubqln4	C	T	3: 88,463,276 (GRCm39)	S147L	probably benign	Het
Ugt2b5	A	T	5: 87,288,117 (GRCm39)	C17S	probably benign	Het
Vps41	A	T	13: 19,026,417 (GRCm39)	Q505L	probably benign	Het
Zfp386	T	C	12: 116,018,436 (GRCm39)	M35T	possibly damaging	Het
Zfp777	T	C	6: 48,021,410 (GRCm39)	M71V	possibly damaging	Het
Zfp938	A	T	10: 82,063,662 (GRCm39)	L34Q	probably damaging	Het
Zfp974	A	T	7: 27,620,120 (GRCm39)		probably null	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
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
R6046:Slc24a2	UTSW	4	86,914,882 (GRCm39)	missense	probably damaging	1.00
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'- GCCACCAGGTCAGGTTTAGGATTTC -3'
(R):5'- AGTAGCACAGGGTCACCGTCAAAG -3'

Sequencing Primer
(F):5'- GGATTTCTCTAGAAAACAGAGCAC -3'
(R):5'- TGCTTCTCAGGAAGACCAAG -3'

Posted On

2013-04-24