Mutagenetix > Incidental Mutation

Incidental Mutation 'R9383:Slc47a2'

710168

Institutional Source

Beutler Lab

Gene Symbol

Slc47a2

Ensembl Gene

ENSMUSG00000069855

Gene Name

solute carrier family 47, member 2

Synonyms

4933429E10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61192457-61233686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61227749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 125 (L125P)

Ref Sequence

ENSEMBL: ENSMUSP00000090710 (fasta)

Gene Model

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

AlphaFold

Q3V050

Predicted Effect

probably damaging
Transcript: ENSMUST00000093029
AA Change: L125P

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

SMART Domains

Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855
AA Change: L125P

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 damaging
Transcript: ENSMUST00000134423
AA Change: L125P

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

SMART Domains

Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855
AA Change: L125P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	G	8: 95,661,162 (GRCm39)	E124G		Het
Atp1a2	T	C	1: 172,107,334 (GRCm39)	I729V	probably benign	Het
Ccn2	T	G	10: 24,471,883 (GRCm39)	V58G	possibly damaging	Het
Chd2	T	A	7: 73,098,918 (GRCm39)	E1467V	probably null	Het
Col6a5	T	C	9: 105,803,110 (GRCm39)	D1285G	unknown	Het
Coro7	A	G	16: 4,452,888 (GRCm39)	C287R	probably damaging	Het
Cpa3	T	C	3: 20,283,045 (GRCm39)	E134G	probably benign	Het
Csf3r	C	T	4: 125,937,239 (GRCm39)	P708S	possibly damaging	Het
Defb30	T	C	14: 63,273,463 (GRCm39)	E49G	probably benign	Het
Dnah3	A	T	7: 119,646,819 (GRCm39)	I1070K	probably benign	Het
Dnm2	G	A	9: 21,383,920 (GRCm39)	V234M	probably damaging	Het
Drg2	T	A	11: 60,350,287 (GRCm39)	M82K	probably benign	Het
Dus2	G	A	8: 106,776,950 (GRCm39)	E312K	probably benign	Het
Efcab6	T	C	15: 83,756,620 (GRCm39)	E1240G	possibly damaging	Het
Ep400	T	C	5: 110,833,351 (GRCm39)	E1957G	unknown	Het
Gpnmb	A	G	6: 49,028,918 (GRCm39)	S479G	probably damaging	Het
Gpr153	T	C	4: 152,367,516 (GRCm39)	S456P	probably benign	Het
Gprc5b	A	T	7: 118,575,761 (GRCm39)	M388K	probably damaging	Het
H2-T23	T	C	17: 36,343,227 (GRCm39)	D50G	possibly damaging	Het
Hipk1	T	C	3: 103,684,883 (GRCm39)	E244G	probably damaging	Het
Malrd1	T	A	2: 15,700,012 (GRCm39)	C620S	unknown	Het
Maz	G	A	7: 126,624,083 (GRCm39)	Q358*	probably null	Het
Mcc	A	T	18: 44,575,985 (GRCm39)	I901N	probably benign	Het
Megf11	T	G	9: 64,545,732 (GRCm39)	C172G	probably damaging	Het
Mipol1	A	G	12: 57,352,820 (GRCm39)	Y53C	probably benign	Het
Nectin4	C	T	1: 171,213,251 (GRCm39)	T391I	probably damaging	Het
Nell2	A	T	15: 95,282,957 (GRCm39)	Y362N	possibly damaging	Het
Nphp4	T	C	4: 152,628,918 (GRCm39)		probably null	Het
Nsun4	A	G	4: 115,891,473 (GRCm39)	V302A	probably benign	Het
Odf2	T	A	2: 29,791,249 (GRCm39)	L181H	probably damaging	Het
Opn1sw	A	G	6: 29,378,000 (GRCm39)	S328P	possibly damaging	Het
Or8k30	T	C	2: 86,338,854 (GRCm39)	I17T	probably damaging	Het
Pga5	C	T	19: 10,646,897 (GRCm39)	G303S	probably damaging	Het
Pik3c2g	T	A	6: 139,827,742 (GRCm39)	Y712*	probably null	Het
Pkd1	C	T	17: 24,794,900 (GRCm39)	R2196C	probably damaging	Het
Pkd1l3	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA	8: 110,350,601 (GRCm39)		probably benign	Het
Plekhm2	A	T	4: 141,359,612 (GRCm39)	M385K	probably damaging	Het
Pole	T	C	5: 110,438,892 (GRCm39)	V164A	possibly damaging	Het
Prr19	T	A	7: 25,002,335 (GRCm39)	F11Y	probably damaging	Het
Prtg	G	T	9: 72,757,143 (GRCm39)	L355F	probably benign	Het
Raph1	C	A	1: 60,564,829 (GRCm39)	M219I	unknown	Het
Rtkn2	A	G	10: 67,839,094 (GRCm39)	D140G	possibly damaging	Het
Serpina5	T	C	12: 104,070,131 (GRCm39)	S343P	probably damaging	Het
Slc1a1	A	G	19: 28,889,125 (GRCm39)	K466R	probably benign	Het
Slc43a1	G	A	2: 84,690,506 (GRCm39)	V518M	probably damaging	Het
Slc4a7	C	A	14: 14,766,803 (GRCm38)	C585*	probably null	Het
Snx19	A	G	9: 30,347,196 (GRCm39)	E713G	probably damaging	Het
Tiam1	C	T	16: 89,655,561 (GRCm39)	V715M	probably damaging	Het
Tln2	T	A	9: 67,278,043 (GRCm39)	M322L	probably benign	Het
Top2a	G	A	11: 98,901,884 (GRCm39)	R449*	probably null	Het
Trpv4	C	A	5: 114,796,474 (GRCm39)		probably benign	Het
Vmn1r214	A	C	13: 23,219,095 (GRCm39)	R196S	probably benign	Het
Vmn1r43	A	T	6: 89,846,552 (GRCm39)	H311Q	possibly damaging	Het
Vmn1r54	A	G	6: 90,247,009 (GRCm39)	T308A	probably benign	Het
Zfand3	T	A	17: 30,354,479 (GRCm39)	Y99N	probably benign	Het
Zfp119b	T	C	17: 56,246,355 (GRCm39)	Y277C	probably damaging	Het
Zfp345	G	A	2: 150,314,503 (GRCm39)	H345Y	possibly damaging	Het
Zyg11a	T	C	4: 108,046,926 (GRCm39)	E516G	probably damaging	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
R4067:Slc47a2	UTSW	11	61,194,773 (GRCm39)	missense	probably benign	0.00
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
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'- GCCTGTTACTTTGTGGCCAC -3'
(R):5'- GCCAAGGTATCAGTTGGCTG -3'

Sequencing Primer
(F):5'- ACTGTCACAGCGTCTGGTC -3'
(R):5'- TGGGACCTGGCAGCCATAATC -3'

Posted On

2022-04-18