Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Slc24a5'

550747

Institutional Source

Beutler Lab

Gene Symbol

Slc24a5

Ensembl Gene

ENSMUSG00000035183

Gene Name

solute carrier family 24, member 5

Synonyms

Oca6, NCX5, F630045L20Rik, NCKX5

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125068124-125088677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 125080671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 118 (S118R)

Ref Sequence

ENSEMBL: ENSMUSP00000063887 (fasta)

Gene Model

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

AlphaFold

Q8C261

Predicted Effect

probably damaging
Transcript: ENSMUST00000070353
AA Change: S118R

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

SMART Domains

Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: S118R

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

Meta Mutation Damage Score

0.5517

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,552,395	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,270,897	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,537,074		probably null	Het
Amph	T	C	13: 19,149,841	*691Q	probably null	Het
Ankrd55	A	G	13: 112,356,110	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,516,815	V838I	possibly damaging	Het
Arl2	C	A	19: 6,134,744	V160F	probably benign	Het
BC067074	T	A	13: 113,318,967	F516I		Het
Catsperb	T	C	12: 101,446,038	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,625,593	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,596,114	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 132,054,815	A573T	probably benign	Het
Daxx	T	C	17: 33,911,442	S144P	probably damaging	Het
Dpp3	T	C	19: 4,918,041	D303G	probably damaging	Het
Fam126b	T	A	1: 58,534,494	T384S	possibly damaging	Het
Fam181a	T	A	12: 103,315,873	N12K	probably damaging	Het
Flg2	A	T	3: 93,203,711	R1015S	unknown	Het
Fstl5	A	G	3: 76,536,293	H315R	probably benign	Het
Fut4	A	G	9: 14,751,393	S202P	probably damaging	Het
Gm5114	T	C	7: 39,408,284	D637G	possibly damaging	Het
Gstcd	G	T	3: 133,084,943	T21K	probably benign	Het
Heca	C	T	10: 17,915,373	V312M	probably benign	Het
Herpud1	A	G	8: 94,390,847	R144G	probably damaging	Het
Hrasls5	T	A	19: 7,639,558	F313I	unknown	Het
Ino80	A	G	2: 119,374,513	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 126,591,733	T365A	probably benign	Het
Klk1	G	A	7: 44,229,424	G214E	probably damaging	Het
Lama3	A	T	18: 12,582,644	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,484,990	I365T	probably damaging	Het
Lrp8	C	A	4: 107,802,450	A13E	possibly damaging	Het
Ly75	A	G	2: 60,306,434	L1483P	probably benign	Het
Mid1	A	G	X: 169,985,077	D407G	probably benign	Het
Mpl	G	T	4: 118,457,410	A21E		Het
Mus81	C	T	19: 5,484,211	G360S	probably damaging	Het
Nmt2	T	A	2: 3,312,913	S250T	probably benign	Het
Nr1d1	C	A	11: 98,771,334	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,050,714	P36S	unknown	Het
Pcnx2	G	A	8: 125,759,114	A1915V	probably benign	Het
Peak1	A	G	9: 56,259,393	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,604,840	N262S	probably benign	Het
Ppp2r5d	A	G	17: 46,685,682	V355A	probably benign	Het
Rasa3	T	C	8: 13,586,897	T395A	probably benign	Het
Rims1	T	A	1: 22,346,473	I432F	probably benign	Het
Rnf123	C	T	9: 108,056,639	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,238,311		probably benign	Het
Shank2	T	A	7: 144,411,164	D836E	possibly damaging	Het
Smg1	G	T	7: 118,184,520	H1048N	unknown	Het
Specc1l	T	G	10: 75,245,495	S242A	probably benign	Het
Tagap1	A	T	17: 6,956,712	L195Q	possibly damaging	Het
Tmem57	T	C	4: 134,806,660	D550G	probably damaging	Het
Trpc3	C	A	3: 36,650,067	E580D	probably benign	Het
Ttn	A	T	2: 76,710,822	V33940E	probably benign	Het
Upp2	G	T	2: 58,791,805	R318L	probably benign	Het
Vezt	T	A	10: 93,996,933	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,866,110	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,581,586	E769*	probably null	Het
Vnn3	T	C	10: 23,865,942	Y382H	probably damaging	Het

Other mutations in Slc24a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Slc24a5	APN	2	125080889	missense	probably damaging	1.00
IGL01307:Slc24a5	APN	2	125080880	missense	probably damaging	1.00
IGL01926:Slc24a5	APN	2	125068903	missense	probably benign	0.01
IGL02090:Slc24a5	APN	2	125068298	missense	probably benign	0.25
IGL02313:Slc24a5	APN	2	125085647	unclassified	probably benign
IGL02328:Slc24a5	APN	2	125080639	missense	probably damaging	1.00
IGL02743:Slc24a5	APN	2	125088234	missense	probably damaging	1.00
IGL02969:Slc24a5	APN	2	125083227	missense	probably damaging	1.00
IGL03212:Slc24a5	APN	2	125080830	missense	probably damaging	1.00
IGL03258:Slc24a5	APN	2	125080705	critical splice donor site	probably null
Scarce	UTSW	2	125080648	missense	probably damaging	1.00
R0344:Slc24a5	UTSW	2	125085701	missense	probably benign	0.03
R0811:Slc24a5	UTSW	2	125068804	missense	probably damaging	0.98
R0812:Slc24a5	UTSW	2	125068804	missense	probably damaging	0.98
R1018:Slc24a5	UTSW	2	125068907	missense	probably damaging	1.00
R1574:Slc24a5	UTSW	2	125080862	missense	probably damaging	0.96
R1574:Slc24a5	UTSW	2	125080862	missense	probably damaging	0.96
R1753:Slc24a5	UTSW	2	125083195	missense	possibly damaging	0.53
R2147:Slc24a5	UTSW	2	125087441	missense	probably damaging	1.00
R4934:Slc24a5	UTSW	2	125088020	missense	probably damaging	1.00
R4964:Slc24a5	UTSW	2	125068268	missense	probably benign	0.20
R4966:Slc24a5	UTSW	2	125068268	missense	probably benign	0.20
R5225:Slc24a5	UTSW	2	125085819	missense	probably damaging	0.99
R5275:Slc24a5	UTSW	2	125085861	missense	probably benign	0.09
R5438:Slc24a5	UTSW	2	125068865	missense	probably damaging	1.00
R5866:Slc24a5	UTSW	2	125085671	missense	probably damaging	1.00
R6038:Slc24a5	UTSW	2	125085731	missense	probably benign	0.04
R6038:Slc24a5	UTSW	2	125085731	missense	probably benign	0.04
R6114:Slc24a5	UTSW	2	125083092	missense	probably benign	0.01
R6211:Slc24a5	UTSW	2	125088251	missense	probably benign	0.23
R6516:Slc24a5	UTSW	2	125088107	missense	probably benign	0.01
R6675:Slc24a5	UTSW	2	125080695	missense	possibly damaging	0.82
R6677:Slc24a5	UTSW	2	125080695	missense	possibly damaging	0.82
R6826:Slc24a5	UTSW	2	125068858	missense	probably benign	0.00
R7122:Slc24a5	UTSW	2	125088191	missense	probably benign	0.15
R7381:Slc24a5	UTSW	2	125068949	missense	probably benign	0.29
R7398:Slc24a5	UTSW	2	125085774	nonsense	probably null
R7401:Slc24a5	UTSW	2	125088191	missense	probably benign	0.15
R8219:Slc24a5	UTSW	2	125085655	critical splice acceptor site	probably null
R9227:Slc24a5	UTSW	2	125080648	missense	probably damaging	1.00
R9230:Slc24a5	UTSW	2	125080648	missense	probably damaging	1.00
X0067:Slc24a5	UTSW	2	125087503	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGAAACCAAGATACATACAGGATTC -3'
(R):5'- AGATGCCGAGGAGATTATAAATTGC -3'

Sequencing Primer
(F):5'- GGATTCCTCTATTTCTAACCCAAATG -3'
(R):5'- CAGATCCTAGTATGGTGCTGATACC -3'

Posted On

2019-05-15