Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01977:Slc31a2'

181736

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc31a2

Ensembl Gene

ENSMUSG00000066152

Gene Name

solute carrier family 31, member 2

Synonyms

Ctr2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

IGL01977

Quality Score

Status

Chromosome

Chromosomal Location

62198630-62216649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62214197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 47 (K47N)

Ref Sequence

ENSEMBL: ENSMUSP00000103092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084527] [ENSMUST00000084530] [ENSMUST00000107467] [ENSMUST00000107468]

AlphaFold

Q9CPU9

Predicted Effect

probably benign
Transcript: ENSMUST00000084527

SMART Domains

Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151

Domain	Start	End	E-Value	Type
low complexity region	59	68	N/A	INTRINSIC
Pfam:FKBP_C	190	286	4.8e-21	PFAM
low complexity region	302	322	N/A	INTRINSIC
low complexity region	326	338	N/A	INTRINSIC
internal_repeat_1	403	431	1.88e-10	PROSPERO
internal_repeat_1	472	500	1.88e-10	PROSPERO
coiled coil region	560	662	N/A	INTRINSIC
coiled coil region	684	790	N/A	INTRINSIC
coiled coil region	816	865	N/A	INTRINSIC
coiled coil region	916	943	N/A	INTRINSIC
low complexity region	952	964	N/A	INTRINSIC
low complexity region	983	994	N/A	INTRINSIC
low complexity region	1034	1045	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084530
AA Change: K49N

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000081578
Gene: ENSMUSG00000066152
AA Change: K49N

Domain	Start	End	E-Value	Type
Pfam:Ctr	1	136	1.1e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107467
AA Change: K47N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103091
Gene: ENSMUSG00000066152
AA Change: K47N

Domain	Start	End	E-Value	Type
Pfam:Ctr	1	134	3.7e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107468
AA Change: K47N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103092
Gene: ENSMUSG00000066152
AA Change: K47N

Domain	Start	End	E-Value	Type
Pfam:Ctr	1	134	3.7e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139308

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,841,986 (GRCm39)	S1040T	probably benign	Het
Adam25	T	C	8: 41,208,134 (GRCm39)	Y467H	probably benign	Het
Ank1	A	G	8: 23,605,449 (GRCm39)	I1061V	probably benign	Het
Anxa10	T	C	8: 62,529,348 (GRCm39)	E123G	probably damaging	Het
Arhgap35	G	A	7: 16,297,128 (GRCm39)	L646F	probably damaging	Het
Atp8b5	A	G	4: 43,320,590 (GRCm39)		probably null	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,730,993 (GRCm39)	T87A	probably damaging	Het
Ccdc172	A	G	19: 58,541,309 (GRCm39)	D256G	possibly damaging	Het
Cep350	C	T	1: 155,787,714 (GRCm39)	A1375T	probably benign	Het
Chrdl2	A	T	7: 99,671,263 (GRCm39)	Q127L	probably benign	Het
Cyp2c29	T	C	19: 39,279,341 (GRCm39)		probably benign	Het
Ddi1	C	A	9: 6,266,226 (GRCm39)	V48F	probably benign	Het
Ddrgk1	C	T	2: 130,497,166 (GRCm39)		probably benign	Het
Fastkd1	C	T	2: 69,524,932 (GRCm39)	V626I	possibly damaging	Het
Fgd5	A	G	6: 92,001,543 (GRCm39)	T755A	probably benign	Het
Fpgt	G	T	3: 154,793,655 (GRCm39)	T124K	probably damaging	Het
Gnl2	G	A	4: 124,941,405 (GRCm39)		probably null	Het
Got1	A	T	19: 43,504,284 (GRCm39)	S46T	probably benign	Het
Hbb-bt	G	T	7: 103,463,070 (GRCm39)	H3N	probably benign	Het
Ikbke	C	T	1: 131,199,838 (GRCm39)		probably benign	Het
Il2rb	A	G	15: 78,365,897 (GRCm39)	S467P	probably benign	Het
Kcnma1	A	G	14: 23,580,367 (GRCm39)		probably benign	Het
Ltbp2	T	C	12: 84,876,973 (GRCm39)	N391D	probably damaging	Het
Npr3	A	T	15: 11,858,804 (GRCm39)	I360N	probably damaging	Het
Nradd	G	A	9: 110,451,237 (GRCm39)	P44S	possibly damaging	Het
Or5m10	G	T	2: 85,717,711 (GRCm39)	C189F	probably damaging	Het
Or7h8	G	A	9: 20,123,755 (GRCm39)	V37I	possibly damaging	Het
Pcdh17	A	G	14: 84,770,537 (GRCm39)	E1005G	possibly damaging	Het
Pcdhb11	A	G	18: 37,555,344 (GRCm39)	T225A	possibly damaging	Het
Pja2	T	C	17: 64,604,821 (GRCm39)	D454G	probably benign	Het
Pon3	T	C	6: 5,221,670 (GRCm39)	Y320C	probably damaging	Het
Prl2a1	A	G	13: 27,990,261 (GRCm39)	D70G	probably damaging	Het
Proc	T	A	18: 32,260,472 (GRCm39)	T218S	probably benign	Het
Proz	G	T	8: 13,116,913 (GRCm39)	G155V	probably damaging	Het
Rab11fip3	T	C	17: 26,286,977 (GRCm39)	E392G	possibly damaging	Het
Rab3gap2	C	T	1: 184,999,220 (GRCm39)	R976*	probably null	Het
Shisa2	G	A	14: 59,867,435 (GRCm39)	C229Y	probably damaging	Het
Slc2a5	T	C	4: 150,226,675 (GRCm39)	V379A	probably damaging	Het
Sult2a6	G	A	7: 13,987,411 (GRCm39)	T88I	probably benign	Het
Tbc1d14	T	C	5: 36,662,381 (GRCm39)	Y302C	probably damaging	Het
Thumpd3	C	A	6: 113,036,927 (GRCm39)	N275K	possibly damaging	Het
Tnks2	T	C	19: 36,849,990 (GRCm39)		probably null	Het
Tube1	G	A	10: 39,011,041 (GRCm39)		probably benign	Het
Umodl1	T	A	17: 31,192,742 (GRCm39)	Y290N	probably damaging	Het
Usp34	G	A	11: 23,402,661 (GRCm39)	E726K	probably damaging	Het
Vmn2r84	T	A	10: 130,229,935 (GRCm39)	D59V	probably benign	Het
Vps11	T	A	9: 44,267,516 (GRCm39)		probably benign	Het
Wdr19	T	C	5: 65,385,912 (GRCm39)	Y631H	probably benign	Het
Wdr62	G	A	7: 29,957,526 (GRCm39)	H88Y	probably damaging	Het
Wdr93	A	T	7: 79,402,253 (GRCm39)	N184I	probably damaging	Het
Wnk4	T	A	11: 101,156,240 (GRCm39)	F473Y	probably damaging	Het
Zbtb16	A	G	9: 48,568,483 (GRCm39)	W661R	probably damaging	Het

Other mutations in Slc31a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Slc31a2	APN	4	62,210,933 (GRCm39)	missense	probably damaging	0.97
IGL01990:Slc31a2	APN	4	62,214,207 (GRCm39)	missense	probably benign	0.20
IGL02396:Slc31a2	APN	4	62,215,310 (GRCm39)	missense	probably damaging	1.00
R0410:Slc31a2	UTSW	4	62,210,890 (GRCm39)	missense	probably benign
R2471:Slc31a2	UTSW	4	62,214,312 (GRCm39)	missense	probably null	1.00
R4801:Slc31a2	UTSW	4	62,210,869 (GRCm39)	missense	probably damaging	1.00
R4802:Slc31a2	UTSW	4	62,210,869 (GRCm39)	missense	probably damaging	1.00
R4916:Slc31a2	UTSW	4	62,215,325 (GRCm39)	missense	probably damaging	0.97
R5467:Slc31a2	UTSW	4	62,210,924 (GRCm39)	missense	probably damaging	1.00
R5795:Slc31a2	UTSW	4	62,215,289 (GRCm39)	missense	probably damaging	1.00
R8678:Slc31a2	UTSW	4	62,210,896 (GRCm39)	missense	probably benign	0.44

Posted On

2014-05-07