Mutagenetix > Incidental Mutation

Incidental Mutation 'R2147:Slc24a5'

233890

Institutional Source

Beutler Lab

Gene Symbol

Slc24a5

Ensembl Gene

ENSMUSG00000035183

Gene Name

solute carrier family 24, member 5

Synonyms

Oca6, F630045L20Rik, NCX5, NCKX5

MMRRC Submission

040150-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124910076-124930316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124929361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 368 (D368G)

Ref Sequence

ENSEMBL: ENSMUSP00000063887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067780] [ENSMUST00000070353] [ENSMUST00000110501] [ENSMUST00000142718] [ENSMUST00000152367] [ENSMUST00000147105]

AlphaFold

Q8C261

Predicted Effect

probably benign
Transcript: ENSMUST00000067780

SMART Domains

Protein: ENSMUSP00000066312
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	92	165	1.84e-22	SMART
low complexity region	198	211	N/A	INTRINSIC
RRM	225	297	5.12e-21	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	430	450	N/A	INTRINSIC
RRM	498	569	6.15e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000070353
AA Change: D368G

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

SMART Domains

Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: D368G

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	72	216	1.1e-24	PFAM
low complexity region	274	290	N/A	INTRINSIC
low complexity region	311	324	N/A	INTRINSIC
Pfam:Na_Ca_ex	334	485	7.6e-31	PFAM
low complexity region	488	500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089825

SMART Domains

Protein: ENSMUSP00000087258
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	48	121	1.84e-22	SMART
low complexity region	154	167	N/A	INTRINSIC
RRM	181	253	5.12e-21	SMART
low complexity region	274	291	N/A	INTRINSIC
low complexity region	386	406	N/A	INTRINSIC
RRM	454	525	6.15e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110501

SMART Domains

Protein: ENSMUSP00000106127
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	92	165	1.84e-22	SMART
low complexity region	198	211	N/A	INTRINSIC
RRM	225	297	5.12e-21	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	430	450	N/A	INTRINSIC
RRM	498	569	6.15e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139615

Predicted Effect

probably benign
Transcript: ENSMUST00000142718

SMART Domains

Protein: ENSMUSP00000115519
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	92	165	1.84e-22	SMART
low complexity region	198	211	N/A	INTRINSIC
RRM	225	297	5.12e-21	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	351	376	N/A	INTRINSIC
low complexity region	427	443	N/A	INTRINSIC
RRM	491	562	6.15e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149963

Predicted Effect

probably benign
Transcript: ENSMUST00000152367

SMART Domains

Protein: ENSMUSP00000123088
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	92	165	1.84e-22	SMART
low complexity region	198	211	N/A	INTRINSIC
RRM	225	297	5.12e-21	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	351	376	N/A	INTRINSIC
low complexity region	447	467	N/A	INTRINSIC
RRM	515	586	6.15e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147105

SMART Domains

Protein: ENSMUSP00000114817
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	92	165	1.84e-22	SMART
low complexity region	198	211	N/A	INTRINSIC
RRM	225	297	5.12e-21	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	410	426	N/A	INTRINSIC
RRM	474	545	6.15e-24	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypopigmentation and ocular albinism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,903,003 (GRCm39)	M91K	probably benign	Het
Abr	T	C	11: 76,346,474 (GRCm39)	R437G	probably damaging	Het
Acaca	T	G	11: 84,167,362 (GRCm39)	D1045E	probably benign	Het
Adam23	A	T	1: 63,573,521 (GRCm39)		probably null	Het
Adam34	A	G	8: 44,105,538 (GRCm39)	Y36H	probably benign	Het
Alg11	G	A	8: 22,555,309 (GRCm39)	G108D	probably damaging	Het
Alox12e	A	T	11: 70,210,771 (GRCm39)	I316N	probably damaging	Het
Arid1a	A	T	4: 133,408,677 (GRCm39)	F1943L	unknown	Het
Armh4	T	C	14: 49,989,028 (GRCm39)	D647G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC035044	T	C	6: 128,867,867 (GRCm39)		probably benign	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccnf	A	T	17: 24,449,288 (GRCm39)		probably null	Het
Cdadc1	A	G	14: 59,835,202 (GRCm39)		probably null	Het
Cep57l1	A	G	10: 41,616,895 (GRCm39)	Y131H	probably damaging	Het
Cfap251	T	C	5: 123,394,254 (GRCm39)	V381A	probably benign	Het
Cfap44	A	G	16: 44,272,047 (GRCm39)	R1267G	probably benign	Het
Chd3	A	T	11: 69,239,854 (GRCm39)	L1658Q	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chpf2	T	A	5: 24,797,033 (GRCm39)	F660I	probably damaging	Het
Cmas	T	A	6: 142,717,015 (GRCm39)	D302E	probably benign	Het
Cpne3	T	A	4: 19,536,562 (GRCm39)	M233L	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dennd3	T	G	15: 73,395,336 (GRCm39)	L143R	probably damaging	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,855,024 (GRCm39)		probably null	Het
Fbxl15	A	T	19: 46,317,627 (GRCm39)	D103V	probably damaging	Het
Gm4781	C	A	10: 100,232,414 (GRCm39)		noncoding transcript	Het
Hpca	A	G	4: 129,012,278 (GRCm39)	I86T	possibly damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lipe	G	T	7: 25,087,946 (GRCm39)	A38E	probably benign	Het
Lrrk1	A	T	7: 65,935,159 (GRCm39)		probably null	Het
Lrsam1	T	C	2: 32,835,891 (GRCm39)	K292R	probably damaging	Het
Mbtps1	A	T	8: 120,265,598 (GRCm39)	H316Q	probably benign	Het
Mms22l	T	A	4: 24,580,063 (GRCm39)	Y525*	probably null	Het
Mrps14	T	C	1: 160,022,862 (GRCm39)	L9P	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo15a	A	G	11: 60,401,055 (GRCm39)	D2992G	possibly damaging	Het
N4bp2	T	A	5: 65,966,543 (GRCm39)	L1327Q	probably damaging	Het
Nradd	A	T	9: 110,451,243 (GRCm39)	F42I	probably benign	Het
Or5k8	T	A	16: 58,644,842 (GRCm39)	I77F	probably damaging	Het
Pank1	T	C	19: 34,804,754 (GRCm39)	H134R	probably benign	Het
Pcdh7	T	A	5: 58,286,458 (GRCm39)	M1178K	possibly damaging	Het
Pcnx3	A	T	19: 5,717,633 (GRCm39)	I1084N	probably damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Phf2	T	C	13: 48,958,165 (GRCm39)	K950E	unknown	Het
Pitpnc1	C	T	11: 107,103,344 (GRCm39)	A252T	probably damaging	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Prpf8	A	G	11: 75,381,357 (GRCm39)	I231V	probably benign	Het
Scin	T	A	12: 40,130,984 (GRCm39)	M310L	probably benign	Het
Serpina3m	T	A	12: 104,355,483 (GRCm39)	I50N	probably benign	Het
Skint8	C	G	4: 111,794,274 (GRCm39)	N221K	probably damaging	Het
Slc22a23	C	T	13: 34,366,990 (GRCm39)	V673M	probably benign	Het
Slc28a1	A	T	7: 80,776,015 (GRCm39)	Q237L	possibly damaging	Het
Smchd1	T	A	17: 71,705,583 (GRCm39)	K1005N	possibly damaging	Het
Stim2	T	C	5: 54,262,717 (GRCm39)	Y320H	probably damaging	Het
Syne3	T	A	12: 104,919,357 (GRCm39)	D512V	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Tcp10a	T	C	17: 7,601,701 (GRCm39)	S216P	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Tmem236	A	G	2: 14,223,861 (GRCm39)	I217V	probably benign	Het
Tmem45b	A	G	9: 31,340,277 (GRCm39)	V128A	probably benign	Het
Tnfaip2	T	C	12: 111,412,456 (GRCm39)	Y286H	probably damaging	Het
Tsc2	T	A	17: 24,840,116 (GRCm39)	I427L	possibly damaging	Het
Ttc17	T	A	2: 94,132,139 (GRCm39)	N1180I	possibly damaging	Het
Ubr1	T	G	2: 120,694,811 (GRCm39)	D1707A	probably damaging	Het
Vmn1r11	A	G	6: 57,114,583 (GRCm39)	I82M	probably benign	Het
Vmn2r129	T	C	4: 156,687,014 (GRCm39)		noncoding transcript	Het
Vps41	G	T	13: 19,023,904 (GRCm39)		probably null	Het
Wnt5a	A	G	14: 28,235,274 (GRCm39)	Y86C	probably damaging	Het
Zfp629	T	C	7: 127,209,616 (GRCm39)	H731R	probably damaging	Het
Zfp712	T	C	13: 67,189,960 (GRCm39)	E189G	possibly damaging	Het

Other mutations in Slc24a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Slc24a5	APN	2	124,922,809 (GRCm39)	missense	probably damaging	1.00
IGL01307:Slc24a5	APN	2	124,922,800 (GRCm39)	missense	probably damaging	1.00
IGL01926:Slc24a5	APN	2	124,910,823 (GRCm39)	missense	probably benign	0.01
IGL02090:Slc24a5	APN	2	124,910,218 (GRCm39)	missense	probably benign	0.25
IGL02313:Slc24a5	APN	2	124,927,567 (GRCm39)	unclassified	probably benign
IGL02328:Slc24a5	APN	2	124,922,559 (GRCm39)	missense	probably damaging	1.00
IGL02743:Slc24a5	APN	2	124,930,154 (GRCm39)	missense	probably damaging	1.00
IGL02969:Slc24a5	APN	2	124,925,147 (GRCm39)	missense	probably damaging	1.00
IGL03212:Slc24a5	APN	2	124,922,750 (GRCm39)	missense	probably damaging	1.00
IGL03258:Slc24a5	APN	2	124,922,625 (GRCm39)	critical splice donor site	probably null
Scarce	UTSW	2	124,922,568 (GRCm39)	missense	probably damaging	1.00
R0344:Slc24a5	UTSW	2	124,927,621 (GRCm39)	missense	probably benign	0.03
R0811:Slc24a5	UTSW	2	124,910,724 (GRCm39)	missense	probably damaging	0.98
R0812:Slc24a5	UTSW	2	124,910,724 (GRCm39)	missense	probably damaging	0.98
R1018:Slc24a5	UTSW	2	124,910,827 (GRCm39)	missense	probably damaging	1.00
R1574:Slc24a5	UTSW	2	124,922,782 (GRCm39)	missense	probably damaging	0.96
R1574:Slc24a5	UTSW	2	124,922,782 (GRCm39)	missense	probably damaging	0.96
R1753:Slc24a5	UTSW	2	124,925,115 (GRCm39)	missense	possibly damaging	0.53
R4934:Slc24a5	UTSW	2	124,929,940 (GRCm39)	missense	probably damaging	1.00
R4964:Slc24a5	UTSW	2	124,910,188 (GRCm39)	missense	probably benign	0.20
R4966:Slc24a5	UTSW	2	124,910,188 (GRCm39)	missense	probably benign	0.20
R5225:Slc24a5	UTSW	2	124,927,739 (GRCm39)	missense	probably damaging	0.99
R5275:Slc24a5	UTSW	2	124,927,781 (GRCm39)	missense	probably benign	0.09
R5438:Slc24a5	UTSW	2	124,910,785 (GRCm39)	missense	probably damaging	1.00
R5866:Slc24a5	UTSW	2	124,927,591 (GRCm39)	missense	probably damaging	1.00
R6038:Slc24a5	UTSW	2	124,927,651 (GRCm39)	missense	probably benign	0.04
R6038:Slc24a5	UTSW	2	124,927,651 (GRCm39)	missense	probably benign	0.04
R6114:Slc24a5	UTSW	2	124,925,012 (GRCm39)	missense	probably benign	0.01
R6211:Slc24a5	UTSW	2	124,930,171 (GRCm39)	missense	probably benign	0.23
R6516:Slc24a5	UTSW	2	124,930,027 (GRCm39)	missense	probably benign	0.01
R6675:Slc24a5	UTSW	2	124,922,615 (GRCm39)	missense	possibly damaging	0.82
R6677:Slc24a5	UTSW	2	124,922,615 (GRCm39)	missense	possibly damaging	0.82
R6826:Slc24a5	UTSW	2	124,910,778 (GRCm39)	missense	probably benign	0.00
R7100:Slc24a5	UTSW	2	124,922,591 (GRCm39)	missense	probably damaging	1.00
R7122:Slc24a5	UTSW	2	124,930,111 (GRCm39)	missense	probably benign	0.15
R7381:Slc24a5	UTSW	2	124,910,869 (GRCm39)	missense	probably benign	0.29
R7398:Slc24a5	UTSW	2	124,927,694 (GRCm39)	nonsense	probably null
R7401:Slc24a5	UTSW	2	124,930,111 (GRCm39)	missense	probably benign	0.15
R8219:Slc24a5	UTSW	2	124,927,575 (GRCm39)	critical splice acceptor site	probably null
R9227:Slc24a5	UTSW	2	124,922,568 (GRCm39)	missense	probably damaging	1.00
R9230:Slc24a5	UTSW	2	124,922,568 (GRCm39)	missense	probably damaging	1.00
X0067:Slc24a5	UTSW	2	124,929,423 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGTGCTAATCTGGTTACCCCAAC -3'
(R):5'- AATGCTTCCCCTGAGTCAC -3'

Sequencing Primer
(F):5'- TGGTTACCCCAACTATCAACCTG -3'
(R):5'- CCTTGACTTGCTTTATGGTAAG -3'

Posted On

2014-10-01