Mutagenetix > Incidental Mutation

Incidental Mutation 'R4067:Slc47a2'

316179

Institutional Source

Beutler Lab

Gene Symbol

Slc47a2

Ensembl Gene

ENSMUSG00000069855

Gene Name

solute carrier family 47, member 2

Synonyms

4933429E10Rik

MMRRC Submission

040853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61192457-61233686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61194773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 469 (T469A)

Ref Sequence

ENSEMBL: ENSMUSP00000090710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093029] [ENSMUST00000134423]

AlphaFold

Q3V050

Predicted Effect

probably benign
Transcript: ENSMUST00000093029
AA Change: T469A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855
AA Change: T469A

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
Pfam:MatE	53	213	1.7e-35	PFAM
transmembrane domain	227	246	N/A	INTRINSIC
Pfam:MatE	274	435	4e-34	PFAM
transmembrane domain	444	466	N/A	INTRINSIC
transmembrane domain	545	567	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134423
AA Change: T469A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855
AA Change: T469A

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
Pfam:MatE	53	213	3.5e-32	PFAM
transmembrane domain	227	246	N/A	INTRINSIC
Pfam:MatE	274	435	1.7e-36	PFAM
transmembrane domain	444	466	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,769,150 (GRCm39)	T121S	possibly damaging	Het
4930503E14Rik	T	C	14: 44,406,641 (GRCm39)	E136G	probably damaging	Het
Adgrg4	A	G	X: 56,005,320 (GRCm39)	N2527S	probably damaging	Het
Ak1	G	A	2: 32,519,593 (GRCm39)	S7N	probably benign	Het
Aktip	A	C	8: 91,852,466 (GRCm39)	I230R	possibly damaging	Het
Alms1	A	G	6: 85,598,271 (GRCm39)	I1032M	probably damaging	Het
Asb4	T	A	6: 5,423,651 (GRCm39)	V266E	probably damaging	Het
Bace1	G	A	9: 45,765,962 (GRCm39)	V130M	probably damaging	Het
Bglap	A	T	3: 88,291,744 (GRCm39)		probably benign	Het
Brpf3	T	C	17: 29,040,233 (GRCm39)	S885P	probably benign	Het
Chd9	A	T	8: 91,750,202 (GRCm39)	I1742F	possibly damaging	Het
Col9a2	T	A	4: 120,909,586 (GRCm39)	I415N	probably damaging	Het
Cybc1	A	T	11: 121,115,528 (GRCm39)		probably null	Het
Dnajc7	T	C	11: 100,492,607 (GRCm39)	Y38C	probably benign	Het
Dync2i2	A	G	2: 29,922,820 (GRCm39)	L309P	probably benign	Het
Enam	A	G	5: 88,651,236 (GRCm39)	Y840C	probably damaging	Het
Etnppl	T	A	3: 130,425,442 (GRCm39)	C416S	probably damaging	Het
Fgf20	A	T	8: 40,732,896 (GRCm39)	S181T	probably benign	Het
Fut8	T	A	12: 77,510,835 (GRCm39)	Y421N	probably damaging	Het
Gcn1	T	G	5: 115,737,147 (GRCm39)	L1295R	probably damaging	Het
Gm11437	A	G	11: 84,055,337 (GRCm39)	V93A	probably benign	Het
Gm9989	T	C	3: 81,829,549 (GRCm39)		noncoding transcript	Het
Gsdmc4	A	T	15: 63,765,736 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,198,772 (GRCm39)		noncoding transcript	Het
Ighv10-1	A	T	12: 114,442,643 (GRCm39)	M114K	probably benign	Het
Il22b	T	C	10: 118,126,115 (GRCm39)	I161V	probably damaging	Het
Itfg2	T	A	6: 128,387,413 (GRCm39)		probably benign	Het
Kirrel1	G	A	3: 86,995,774 (GRCm39)	Q387*	probably null	Het
Klk1	C	T	7: 43,876,968 (GRCm39)	R24*	probably null	Het
Klra7	T	C	6: 130,208,612 (GRCm39)		probably null	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mrps2	A	G	2: 28,359,782 (GRCm39)	N213S	probably benign	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Ntrk3	T	A	7: 78,167,185 (GRCm39)	Y102F	probably damaging	Het
Or8k24	A	T	2: 86,216,431 (GRCm39)	C110*	probably null	Het
Otof	C	T	5: 30,556,635 (GRCm39)	G282D	probably damaging	Het
Pcdhb2	A	T	18: 37,430,367 (GRCm39)		probably null	Het
Pign	A	T	1: 105,515,703 (GRCm39)		probably null	Het
Plekha6	G	A	1: 133,222,416 (GRCm39)	E1001K	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Ppm1d	A	G	11: 85,236,678 (GRCm39)	T486A	probably benign	Het
Pudp	A	G	18: 50,701,329 (GRCm39)	F135L	probably benign	Het
Rd3l	T	G	12: 111,945,945 (GRCm39)	N178T	probably benign	Het
Rel	A	C	11: 23,703,215 (GRCm39)		probably null	Het
Sf3a1	T	A	11: 4,117,824 (GRCm39)	F195L	probably damaging	Het
Slc30a1	G	C	1: 191,639,401 (GRCm39)	A95P	probably damaging	Het
Slc4a10	A	T	2: 61,876,989 (GRCm39)	M1L	probably benign	Het
Slc8a1	T	A	17: 81,955,703 (GRCm39)	D445V	probably damaging	Het
Slc9a7	C	T	X: 20,071,793 (GRCm39)	G113R	probably damaging	Het
Spata31e5	T	A	1: 28,816,712 (GRCm39)	D440V	probably damaging	Het
Spic	T	C	10: 88,511,545 (GRCm39)	H237R	possibly damaging	Het
Stk26	A	G	X: 49,977,910 (GRCm39)	E317G	probably benign	Het
Tex10	A	T	4: 48,459,355 (GRCm39)	Y506*	probably null	Het
Trhde	T	A	10: 114,280,585 (GRCm39)	R848*	probably null	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Usp24	C	T	4: 106,216,286 (GRCm39)	T379M	possibly damaging	Het
Zfp783	A	T	6: 47,922,499 (GRCm39)		noncoding transcript	Het

Other mutations in Slc47a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Slc47a2	APN	11	61,193,059 (GRCm39)	missense	probably benign	0.16
IGL01367:Slc47a2	APN	11	61,220,607 (GRCm39)	missense	probably benign	0.03
IGL01681:Slc47a2	APN	11	61,228,866 (GRCm39)	missense	probably damaging	1.00
IGL01874:Slc47a2	APN	11	61,203,685 (GRCm39)	critical splice acceptor site	probably null
IGL02049:Slc47a2	APN	11	61,233,365 (GRCm39)	missense	probably damaging	0.98
IGL02399:Slc47a2	APN	11	61,193,020 (GRCm39)	unclassified	probably benign
IGL02481:Slc47a2	APN	11	61,227,067 (GRCm39)	missense	possibly damaging	0.58
IGL02880:Slc47a2	APN	11	61,198,366 (GRCm39)	missense	probably damaging	0.97
IGL03068:Slc47a2	APN	11	61,194,769 (GRCm39)	missense	probably damaging	1.00
IGL03136:Slc47a2	APN	11	61,201,591 (GRCm39)	missense	probably benign	0.00
IGL03236:Slc47a2	APN	11	61,204,505 (GRCm39)	missense	probably damaging	1.00
IGL03286:Slc47a2	APN	11	61,233,293 (GRCm39)	missense	possibly damaging	0.57
R0047:Slc47a2	UTSW	11	61,227,068 (GRCm39)	missense	possibly damaging	0.90
R0047:Slc47a2	UTSW	11	61,227,068 (GRCm39)	missense	possibly damaging	0.90
R0597:Slc47a2	UTSW	11	61,200,802 (GRCm39)	missense	probably damaging	0.98
R0690:Slc47a2	UTSW	11	61,233,330 (GRCm39)	missense	possibly damaging	0.62
R2042:Slc47a2	UTSW	11	61,228,908 (GRCm39)	missense	probably benign	0.05
R2217:Slc47a2	UTSW	11	61,204,497 (GRCm39)	missense	probably benign	0.00
R2218:Slc47a2	UTSW	11	61,204,497 (GRCm39)	missense	probably benign	0.00
R2271:Slc47a2	UTSW	11	61,219,352 (GRCm39)	critical splice donor site	probably null
R2272:Slc47a2	UTSW	11	61,219,352 (GRCm39)	critical splice donor site	probably null
R4861:Slc47a2	UTSW	11	61,227,059 (GRCm39)	missense	probably benign	0.00
R4861:Slc47a2	UTSW	11	61,227,059 (GRCm39)	missense	probably benign	0.00
R4862:Slc47a2	UTSW	11	61,204,520 (GRCm39)	missense	possibly damaging	0.69
R4985:Slc47a2	UTSW	11	61,193,059 (GRCm39)	missense	probably benign
R5419:Slc47a2	UTSW	11	61,198,412 (GRCm39)	missense	probably benign
R5593:Slc47a2	UTSW	11	61,233,486 (GRCm39)	missense	probably benign	0.00
R7105:Slc47a2	UTSW	11	61,233,269 (GRCm39)	missense	probably benign	0.07
R7358:Slc47a2	UTSW	11	61,199,699 (GRCm39)	missense	possibly damaging	0.78
R7522:Slc47a2	UTSW	11	61,193,076 (GRCm39)	missense	probably benign	0.14
R8743:Slc47a2	UTSW	11	61,233,588 (GRCm39)	missense	probably benign	0.03
R8916:Slc47a2	UTSW	11	61,193,118 (GRCm39)	missense	probably damaging	1.00
R9060:Slc47a2	UTSW	11	61,227,699 (GRCm39)	missense	probably benign	0.00
R9383:Slc47a2	UTSW	11	61,227,749 (GRCm39)	missense	probably damaging	1.00
R9484:Slc47a2	UTSW	11	61,227,060 (GRCm39)	missense	possibly damaging	0.46
Z1176:Slc47a2	UTSW	11	61,216,715 (GRCm39)	missense	probably benign	0.28
Z1177:Slc47a2	UTSW	11	61,219,401 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGGACCTATCTTCCTGTCC -3'
(R):5'- ATCAGTGGCAGACTTCAGTC -3'

Sequencing Primer
(F):5'- CCCTTTCACTATCCGCATAGTTACAG -3'
(R):5'- GCTCCGTGTTTATCCAAAATTTTTG -3'

Posted On

2015-05-15