Mutagenetix > Incidental Mutation

Incidental Mutation 'R1776:Slc24a2'

197009

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

039807-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R1776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86901361-87148714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87094526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 331 (T331I)

Ref Sequence

ENSEMBL: ENSMUSP00000102776 (fasta)

Gene Model

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

AlphaFold

Q14BI1

Predicted Effect

probably benign
Transcript: ENSMUST00000044990

SMART Domains

Protein: ENSMUSP00000043937
Gene: ENSMUSG00000037996

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

SMART Domains

Protein: ENSMUSP00000102773
Gene: ENSMUSG00000037996

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

SMART Domains

Protein: ENSMUSP00000102775
Gene: ENSMUSG00000037996

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: T331I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102776
Gene: ENSMUSG00000037996
AA Change: T331I

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

probably benign
Transcript: ENSMUST00000146815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155361

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

Validation Efficiency

98% (86/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,711,058 (GRCm39)		noncoding transcript	Het
9430097D07Rik	T	C	2: 32,464,767 (GRCm39)		probably benign	Het
A2m	C	G	6: 121,618,383 (GRCm39)	F225L	probably damaging	Het
Adamts19	T	A	18: 59,087,692 (GRCm39)	I574N	probably damaging	Het
Ankfn1	T	C	11: 89,417,300 (GRCm39)	D104G	possibly damaging	Het
Ankhd1	T	A	18: 36,780,361 (GRCm39)	N1804K	probably benign	Het
Ankle1	G	T	8: 71,861,918 (GRCm39)	V474F	probably damaging	Het
Arfgap3	A	G	15: 83,227,340 (GRCm39)	V24A	probably benign	Het
Asph	A	T	4: 9,598,773 (GRCm39)	S149R	probably damaging	Het
Cass4	A	T	2: 172,269,615 (GRCm39)	I568L	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdx1	G	A	18: 61,169,086 (GRCm39)	A36V	probably benign	Het
Cep57	A	T	9: 13,730,170 (GRCm39)	S123T	probably damaging	Het
Clca3a2	T	A	3: 144,519,681 (GRCm39)	Q231L	probably damaging	Het
Clcnkb	T	C	4: 141,142,500 (GRCm39)		probably benign	Het
Crabp2	C	A	3: 87,860,301 (GRCm39)	T125K	probably benign	Het
Dennd3	A	G	15: 73,426,950 (GRCm39)	T776A	possibly damaging	Het
Dnajb6	T	C	5: 29,990,091 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,380,593 (GRCm39)	I1847N	probably damaging	Het
Dync1h1	T	C	12: 110,599,362 (GRCm39)		probably benign	Het
Ecpas	A	G	4: 58,879,100 (GRCm39)	I63T	probably damaging	Het
Fbn1	A	C	2: 125,163,654 (GRCm39)	F2067L	possibly damaging	Het
Fbxo16	T	A	14: 65,532,835 (GRCm39)		probably null	Het
Gm3604	C	A	13: 62,517,888 (GRCm39)	G157*	probably null	Het
Gm5250	A	G	1: 13,132,564 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,067,007 (GRCm39)	S503P	possibly damaging	Het
Herc4	T	A	10: 63,099,950 (GRCm39)	C124*	probably null	Het
Ift27	T	C	15: 78,050,181 (GRCm39)	D76G	probably null	Het
Igdcc3	C	T	9: 65,090,034 (GRCm39)	Q550*	probably null	Het
Igsf6	T	A	7: 120,667,522 (GRCm39)	I165F	probably damaging	Het
Il31ra	T	C	13: 112,677,773 (GRCm39)	I173M	probably damaging	Het
Kbtbd6	G	A	14: 79,690,045 (GRCm39)	D247N	probably benign	Het
Kcnq2	T	A	2: 180,742,350 (GRCm39)	T394S	probably benign	Het
Mia2	A	G	12: 59,196,361 (GRCm39)		probably benign	Het
Mvp	T	C	7: 126,591,933 (GRCm39)	Q419R	probably benign	Het
Mylk	A	G	16: 34,773,152 (GRCm39)	D1250G	probably benign	Het
Necab1	A	G	4: 15,111,267 (GRCm39)	Y54H	probably damaging	Het
Nlk	T	A	11: 78,477,853 (GRCm39)	M297L	probably benign	Het
Nsl1	G	T	1: 190,795,385 (GRCm39)	M50I	probably benign	Het
Numa1	A	G	7: 101,660,257 (GRCm39)	T441A	probably damaging	Het
Ofd1	A	G	X: 165,189,002 (GRCm39)	Y755H	probably benign	Het
Or10d1c	G	A	9: 38,894,190 (GRCm39)	S50F	probably damaging	Het
Or6c69b	C	T	10: 129,627,000 (GRCm39)	V153I	probably benign	Het
Or8b12i	G	A	9: 20,082,105 (GRCm39)	T254I	probably benign	Het
Ovgp1	A	T	3: 105,885,114 (GRCm39)	H151L	possibly damaging	Het
Pigz	G	A	16: 31,763,397 (GRCm39)	E152K	probably damaging	Het
Plxna1	A	T	6: 89,312,446 (GRCm39)	D779E	probably benign	Het
Ppil4	A	T	10: 7,686,201 (GRCm39)	E353V	probably benign	Het
Ptprq	C	T	10: 107,520,950 (GRCm39)	G741S	probably damaging	Het
Rplp0	T	C	5: 115,700,524 (GRCm39)	Y231H	probably benign	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Rundc3b	T	C	5: 8,629,050 (GRCm39)	E117G	probably damaging	Het
Ryr2	A	C	13: 11,760,062 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,787,598 (GRCm39)	M198K	probably damaging	Het
Sdhd	T	C	9: 50,508,500 (GRCm39)	K122R	probably benign	Het
Senp2	T	C	16: 21,861,810 (GRCm39)		probably benign	Het
Setd3	C	A	12: 108,131,420 (GRCm39)	G2V	probably damaging	Het
Sfxn5	A	G	6: 85,244,927 (GRCm39)		probably benign	Het
She	T	A	3: 89,739,345 (GRCm39)	S179T	possibly damaging	Het
Slc45a3	T	C	1: 131,904,694 (GRCm39)	W6R	possibly damaging	Het
Slc9a4	T	C	1: 40,668,447 (GRCm39)	S697P	probably benign	Het
Soat1	C	T	1: 156,269,991 (GRCm39)	V143I	probably benign	Het
Sp8	T	A	12: 118,813,302 (GRCm39)	F386I	probably damaging	Het
Spata31d1b	A	G	13: 59,864,381 (GRCm39)	T510A	probably benign	Het
Srgap2	T	A	1: 131,339,588 (GRCm39)	I125F	probably damaging	Het
Stab2	T	A	10: 86,793,680 (GRCm39)	I472F	possibly damaging	Het
Taar7f	C	T	10: 23,925,546 (GRCm39)	R47C	probably benign	Het
Tbc1d19	T	A	5: 54,046,653 (GRCm39)		probably null	Het
Tbc1d21	T	A	9: 58,274,011 (GRCm39)		probably benign	Het
Tcaf1	A	G	6: 42,655,389 (GRCm39)	I529T	possibly damaging	Het
Tgfbr2	A	T	9: 116,004,035 (GRCm39)	I24N	possibly damaging	Het
Tgm1	T	C	14: 55,946,854 (GRCm39)	T385A	probably damaging	Het
Tgm2	T	C	2: 157,973,379 (GRCm39)	N244S	probably benign	Het
Thoc5	T	C	11: 4,864,517 (GRCm39)		probably benign	Het
Tmc2	A	T	2: 130,076,789 (GRCm39)	I372F	probably damaging	Het
Tnrc6a	A	G	7: 122,770,520 (GRCm39)	D222G	probably damaging	Het
Trhde	T	G	10: 114,636,508 (GRCm39)	N233T	probably benign	Het
Tstd3	T	C	4: 21,759,475 (GRCm39)	Y99C	probably damaging	Het
Ttc22	A	T	4: 106,496,237 (GRCm39)	D429V	possibly damaging	Het
Ugcg	A	G	4: 59,207,775 (GRCm39)	N38S	probably benign	Het
Ush2a	A	G	1: 188,460,400 (GRCm39)	I2554V	possibly damaging	Het
Usp16	A	G	16: 87,276,204 (GRCm39)	D513G	probably damaging	Het
Vip	T	C	10: 5,594,992 (GRCm39)		probably null	Het
Vmn1r4	A	G	6: 56,934,023 (GRCm39)	I176V	probably benign	Het
Zfp804b	T	C	5: 6,819,806 (GRCm39)	T1050A	probably damaging	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
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'- ACAGTAGCCTGAGACCACTCCTTG -3'
(R):5'- TGTGCCCTGTCTTCATAGAGGTCAC -3'

Sequencing Primer
(F):5'- TGGCAGCTCTAATAAGGCTTC -3'
(R):5'- CCTGTCTTCATAGAGGTCACAAAGG -3'

Posted On

2014-05-23