Mutagenetix > Incidental Mutation

Incidental Mutation 'R5795:Slc31a2'

447163

Institutional Source

Beutler Lab

Gene Symbol

Slc31a2

Ensembl Gene

ENSMUSG00000066152

Gene Name

solute carrier family 31, member 2

Synonyms

Ctr2

MMRRC Submission

043386-MU

Accession Numbers

Essential gene?

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

Stock #

R5795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62198630-62216649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62215289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 112 (V112A)

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 damaging
Transcript: ENSMUST00000084530
AA Change: V114A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081578
Gene: ENSMUSG00000066152
AA Change: V114A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107467
AA Change: V112A

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

SMART Domains

Protein: ENSMUSP00000103091
Gene: ENSMUSG00000066152
AA Change: V112A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107468
AA Change: V112A

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

SMART Domains

Protein: ENSMUSP00000103092
Gene: ENSMUSG00000066152
AA Change: V112A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139308

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	A	G	9: 104,186,688 (GRCm39)	V261A	probably benign	Het
Adipor1	C	A	1: 134,352,641 (GRCm39)	N137K	probably damaging	Het
Ahnak	A	T	19: 8,989,746 (GRCm39)	K3677*	probably null	Het
Ankrd24	C	A	10: 81,480,937 (GRCm39)		probably benign	Het
Appl1	G	T	14: 26,664,773 (GRCm39)	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,015,761 (GRCm39)	F249L	possibly damaging	Het
Brat1	G	T	5: 140,698,827 (GRCm39)	A275S	probably benign	Het
C5ar1	T	C	7: 15,982,319 (GRCm39)	K234E	possibly damaging	Het
Cblif	A	G	19: 11,737,740 (GRCm39)	T384A	probably damaging	Het
Ccs	A	G	19: 4,883,367 (GRCm39)		probably null	Het
Chmp5	T	G	4: 40,950,562 (GRCm39)		probably null	Het
Chrna3	T	A	9: 54,922,552 (GRCm39)	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Csf3	G	T	11: 98,592,853 (GRCm39)	C72F	probably damaging	Het
Dbndd1	A	G	8: 124,236,619 (GRCm39)	I83T	probably damaging	Het
Ercc6	A	G	14: 32,248,309 (GRCm39)	K287E	probably damaging	Het
F5	C	T	1: 163,979,578 (GRCm39)	T16I	probably benign	Het
Hephl1	C	T	9: 14,981,056 (GRCm39)	G792E	probably damaging	Het
Hmmr	T	A	11: 40,612,733 (GRCm39)	D158V	probably damaging	Het
Hsd11b1	A	G	1: 192,922,940 (GRCm39)	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,412,978 (GRCm39)	S167P	probably benign	Het
Irf7	G	A	7: 140,845,029 (GRCm39)	P118L	probably damaging	Het
Lama1	A	G	17: 68,103,722 (GRCm39)	N1981S	probably benign	Het
Lrp4	A	G	2: 91,304,816 (GRCm39)	D224G	probably benign	Het
Mink1	T	C	11: 70,498,616 (GRCm39)	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,491,557 (GRCm39)	V412M	probably damaging	Het
Muc5b	G	A	7: 141,425,478 (GRCm39)	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,890,415 (GRCm39)	E34K	probably damaging	Het
Oaf	T	A	9: 43,135,241 (GRCm39)	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,252,824 (GRCm39)	G278D	probably damaging	Het
Or2h1	A	G	17: 37,404,661 (GRCm39)	L35P	probably damaging	Het
Or5b12	A	G	19: 12,897,188 (GRCm39)	F162L	possibly damaging	Het
Paf1	T	G	7: 28,096,043 (GRCm39)	M250R	probably damaging	Het
Pcdh8	T	C	14: 80,008,420 (GRCm39)	T48A	possibly damaging	Het
Pdzph1	A	G	17: 59,192,862 (GRCm39)	V1096A	possibly damaging	Het
Polr3b	T	C	10: 84,512,875 (GRCm39)	S586P	probably damaging	Het
Polr3b	A	T	10: 84,464,116 (GRCm39)	E25D	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc28a2b	T	C	2: 122,348,475 (GRCm39)	M274T	possibly damaging	Het
Spire1	A	T	18: 67,628,265 (GRCm39)	S412T	probably benign	Het
Tanc1	A	G	2: 59,637,926 (GRCm39)	T876A	possibly damaging	Het
Tango6	T	A	8: 107,444,709 (GRCm39)	L538H	probably damaging	Het
Tas2r125	G	A	6: 132,886,621 (GRCm39)	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,091,158 (GRCm39)	M125K	possibly damaging	Het
Traf5	T	C	1: 191,731,807 (GRCm39)	S345G	probably benign	Het
Ush2a	A	T	1: 188,175,594 (GRCm39)	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,250,372 (GRCm39)	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,250,544 (GRCm39)	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,448,998 (GRCm39)	C60S	probably benign	Het
Zfp316	A	T	5: 143,248,594 (GRCm39)	D217E	unknown	Het
Zfp456	A	T	13: 67,515,039 (GRCm39)	D222E	probably benign	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
IGL01977:Slc31a2	APN	4	62,214,197 (GRCm39)	missense	probably damaging	1.00
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
R8678:Slc31a2	UTSW	4	62,210,896 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- GTGTCCCTTTGGAGAGACATC -3'
(R):5'- TCATCTCAAAGTCTCCAGGAAC -3'

Sequencing Primer
(F):5'- CTCTGCTAGATGTTATGCTGTAAC -3'
(R):5'- TGAGCAATGGCCACCATAAG -3'

Posted On

2016-12-15