Mutagenetix > Incidental Mutation

Incidental Mutation 'R4561:Slc24a2'

343082

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

041786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R4561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86983124-87230477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87227397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 140 (V140D)

Ref Sequence

ENSEMBL: ENSMUSP00000043937 (fasta)

Gene Model

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

AlphaFold

Q14BI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000044990
AA Change: V140D

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

SMART Domains

Protein: ENSMUSP00000043937
Gene: ENSMUSG00000037996
AA Change: V140D

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: V140D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102773
Gene: ENSMUSG00000037996
AA Change: V140D

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: V140D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102775
Gene: ENSMUSG00000037996
AA Change: V140D

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: V140D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102776
Gene: ENSMUSG00000037996
AA Change: V140D

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 70,002,018	S1601P	probably damaging	Het
Arnt	A	G	3: 95,452,613	N56D	probably damaging	Het
Atad5	A	G	11: 80,095,889	T601A	probably benign	Het
Calr4	A	G	4: 109,246,182	N163S	probably damaging	Het
Cenpc1	C	A	5: 86,047,632	A93S	probably damaging	Het
Cep135	C	T	5: 76,638,193	H1048Y	possibly damaging	Het
Ctnna2	A	G	6: 77,636,713		probably null	Het
Ddx60	T	C	8: 61,942,461	L144P	probably damaging	Het
Dera	A	T	6: 137,780,738	T96S	possibly damaging	Het
Dock9	T	A	14: 121,559,007	M1853L	probably benign	Het
Erbb4	G	A	1: 68,343,921	R306*	probably null	Het
Glyat	G	T	19: 12,651,280	L146F	possibly damaging	Het
Grk4	C	A	5: 34,694,813	Q134K	probably benign	Het
Hkdc1	T	C	10: 62,409,839	Q181R	probably benign	Het
Huwe1	A	T	X: 151,863,959	I682F	probably damaging	Het
Ipo4	C	T	14: 55,630,089		probably benign	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,571,955		probably benign	Het
Kcnd2	A	G	6: 21,216,396	Q33R	probably benign	Het
Kdm7a	C	T	6: 39,152,823	R473Q	probably damaging	Het
Klhl30	A	T	1: 91,361,031	H504L	probably damaging	Het
Map4	A	G	9: 110,052,371	Y101C	possibly damaging	Het
Mfn2	C	A	4: 147,877,035	R707L	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myof	T	C	19: 37,922,990	N1511D	probably benign	Het
Neb	A	T	2: 52,286,155	Y1431N	probably damaging	Het
Nlrc5	A	G	8: 94,477,146	T625A	probably damaging	Het
Olfr996	G	T	2: 85,579,620	C127F	probably damaging	Het
Pax2	A	G	19: 44,835,963	Y374C	unknown	Het
Pde8a	T	A	7: 81,308,820	Y315*	probably null	Het
Pkhd1	A	T	1: 20,534,719	L1124Q	possibly damaging	Het
Ppp1r3a	A	G	6: 14,754,682	F189L	probably damaging	Het
Prex2	G	A	1: 11,184,545		probably null	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Slc22a22	T	A	15: 57,263,385	Q77L	probably damaging	Het
Slc35g2	C	A	9: 100,553,234	R128L	probably damaging	Het
Slco1b2	A	G	6: 141,671,167	T409A	probably benign	Het
Spag7	T	C	11: 70,664,990	I80M	probably damaging	Het
Srgap3	A	G	6: 112,781,054	M164T	probably damaging	Het
Sspo	A	T	6: 48,475,534		probably null	Het
Tcte2	T	C	17: 13,722,602		probably benign	Het
Tmem117	A	T	15: 95,094,796	M446L	probably benign	Het
Tmtc4	T	C	14: 122,963,298	T194A	probably benign	Het
Ttc21b	T	C	2: 66,186,218	Y1269C	probably damaging	Het
Zfp236	A	T	18: 82,620,406	I1363N	probably damaging	Het
Zfp760	T	A	17: 21,723,667	S608T	probably benign	Het
Zfp947	G	T	17: 22,146,143	Y183*	probably null	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
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
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'- ATGCCGACATTGCTGTGAGC -3'
(R):5'- TGATATGAGTGGCCCCAGAGTAG -3'

Sequencing Primer
(F):5'- GCTGTGAGCAATGAAGACCCC -3'
(R):5'- TAGCACAGGGTCACCGTCAAAG -3'

Posted On

2015-09-24