Mutagenetix > Incidental Mutation

Incidental Mutation 'R4966:Slc24a5'

383990

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

042562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124910076-124930316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124910188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 30 (V30I)

Ref Sequence

ENSEMBL: ENSMUSP00000063887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070353]

AlphaFold

Q8C261

Predicted Effect

probably benign
Transcript: ENSMUST00000070353
AA Change: V30I

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: V30I

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

noncoding transcript
Transcript: ENSMUST00000139615

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

96% (94/98)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,850,626 (GRCm39)		probably benign	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Actn1	T	C	12: 80,219,904 (GRCm39)	I656V	probably benign	Het
Arhgef15	A	G	11: 68,838,143 (GRCm39)	V659A	probably benign	Het
AW551984	T	C	9: 39,508,472 (GRCm39)	E348G	possibly damaging	Het
Bbs2	A	T	8: 94,807,435 (GRCm39)	V453E	probably damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cyld	A	G	8: 89,468,929 (GRCm39)	I567V	possibly damaging	Het
Dact3	G	C	7: 16,620,013 (GRCm39)	V503L	unknown	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,798,224 (GRCm39)	E490K	probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Fgfr1	C	A	8: 26,062,461 (GRCm39)	Y665*	probably null	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gpr45	A	G	1: 43,072,280 (GRCm39)	T308A	probably benign	Het
Grm1	T	A	10: 10,595,409 (GRCm39)	K740*	probably null	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hsh2d	C	T	8: 72,947,372 (GRCm39)	A23V	probably benign	Het
Ino80c	T	C	18: 24,239,702 (GRCm39)	D153G	probably damaging	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Myf5	A	T	10: 107,321,733 (GRCm39)	C20*	probably null	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Myo9a	A	G	9: 59,779,017 (GRCm39)	D1591G	probably benign	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nlgn1	C	T	3: 25,974,401 (GRCm39)	G165D	possibly damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Nup205	G	A	6: 35,220,784 (GRCm39)	R1862H	probably benign	Het
Nup210l	A	G	3: 90,014,208 (GRCm39)	H65R	probably benign	Het
Or2y16	A	G	11: 49,334,945 (GRCm39)	D89G	possibly damaging	Het
Or9k7	A	T	10: 130,046,306 (GRCm39)	M231K	probably benign	Het
Pcmtd1	C	A	1: 7,231,233 (GRCm39)	Y176*	probably null	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rdx	T	C	9: 51,986,309 (GRCm39)	V372A	probably benign	Het
Reep6	T	A	10: 80,169,633 (GRCm39)	F107Y	probably benign	Het
Rere	G	T	4: 150,698,273 (GRCm39)		probably benign	Het
Rmdn2	G	T	17: 79,974,304 (GRCm39)	A266S	probably damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Rnpepl1	A	T	1: 92,844,483 (GRCm39)	N325I	probably damaging	Het
Rps6ka5	T	A	12: 100,519,325 (GRCm39)	M763L	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3j	T	A	12: 104,286,043 (GRCm39)	C399*	probably null	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sim2	T	C	16: 93,924,280 (GRCm39)	V475A	probably benign	Het
Snrnp25	A	G	11: 32,157,595 (GRCm39)	K58E	probably damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tm2d3	A	G	7: 65,347,469 (GRCm39)	N101S	possibly damaging	Het
Tmem201	G	T	4: 149,803,144 (GRCm39)	Q575K	probably benign	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trak2	G	A	1: 58,958,480 (GRCm39)	T267I	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttk	T	A	9: 83,747,201 (GRCm39)	I680N	probably benign	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Tulp4	G	A	17: 6,249,088 (GRCm39)	E36K	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vmn2r67	A	T	7: 84,785,593 (GRCm39)	V804E	probably damaging	Het
Wdr81	T	A	11: 75,336,775 (GRCm39)	Q1538L	probably benign	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het
Zmat4	T	C	8: 24,392,085 (GRCm39)	S83P	probably 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
R2147:Slc24a5	UTSW	2	124,929,361 (GRCm39)	missense	probably damaging	1.00
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
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'- ATCAGAGAAGCCAGGCTGTC -3'
(R):5'- CTGATCAAGAGCGCTTCCCATC -3'

Sequencing Primer
(F):5'- AAGCCAGGCTGTCTCCCTTG -3'
(R):5'- TTCCCATCCTCGGCAGG -3'

Posted On

2016-04-27