Mutagenetix > Incidental Mutation

Incidental Mutation 'R7137:Slc25a2'

553159

Institutional Source

Beutler Lab

Gene Symbol

Slc25a2

Ensembl Gene

ENSMUSG00000050304

Gene Name

solute carrier family 25 (mitochondrial carrier, ornithine transporter) member 2

Synonyms

Ornt2

MMRRC Submission

045248-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R7137 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37770431-37771776 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37771200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 110 (I110V)

Ref Sequence

ENSEMBL: ENSMUSP00000052849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058635] [ENSMUST00000066272] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q99ML6

Predicted Effect

probably benign
Transcript: ENSMUST00000058635
AA Change: I110V

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

SMART Domains

Protein: ENSMUSP00000052849
Gene: ENSMUSG00000050304
AA Change: I110V

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	60	5.9e-11	PFAM
Pfam:Mito_carr	67	165	9.5e-20	PFAM
Pfam:Mito_carr	169	262	8.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066272

SMART Domains

Protein: ENSMUSP00000065645
Gene: ENSMUSG00000051316

Domain	Start	End	E-Value	Type
TAFII55_N	12	178	4.63e-94	SMART
low complexity region	225	235	N/A	INTRINSIC
coiled coil region	237	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,654,944 (GRCm39)	S1423P	possibly damaging	Het
Acvr1c	A	G	2: 58,173,399 (GRCm39)		probably null	Het
Adgrf5	A	G	17: 43,761,788 (GRCm39)	K1161R	probably damaging	Het
Aoc1l3	A	G	6: 48,967,083 (GRCm39)	Y677C	probably damaging	Het
Arhgap32	T	G	9: 32,063,232 (GRCm39)	D80E	probably benign	Het
Aspg	T	C	12: 112,078,632 (GRCm39)	V30A	possibly damaging	Het
Bcl2a1d	T	C	9: 88,613,531 (GRCm39)	D81G	probably damaging	Het
Cep170b	T	C	12: 112,701,601 (GRCm39)	V160A	probably benign	Het
Ces1c	T	C	8: 93,857,470 (GRCm39)	Y37C	probably benign	Het
Cntnap5a	T	C	1: 116,017,106 (GRCm39)	L233P	probably damaging	Het
Crem	C	A	18: 3,273,459 (GRCm39)	A245S	possibly damaging	Het
Cyp2d12	C	T	15: 82,442,022 (GRCm39)	A280V	probably benign	Het
Dnah2	C	T	11: 69,382,381 (GRCm39)	G1243D	probably damaging	Het
Eif1ad19	A	T	12: 87,740,316 (GRCm39)	L81Q	possibly damaging	Het
Emcn	T	G	3: 137,109,752 (GRCm39)	N131K	probably damaging	Het
Fat3	A	T	9: 15,908,444 (GRCm39)	D2519E	probably damaging	Het
Fibin	T	A	2: 110,193,001 (GRCm39)	D47V	probably damaging	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Gimap8	C	A	6: 48,627,187 (GRCm39)	L54I	probably damaging	Het
Gm20481	A	G	17: 35,189,071 (GRCm39)	Y27C	unknown	Het
Grin1	T	G	2: 25,203,550 (GRCm39)	M154L	probably benign	Het
Ighv8-13	A	G	12: 115,729,197 (GRCm39)	L20P	probably damaging	Het
Insc	G	A	7: 114,410,850 (GRCm39)	V236I	probably benign	Het
Lrrk1	A	G	7: 65,935,027 (GRCm39)	F1031L	probably benign	Het
Man2a2	C	A	7: 80,009,499 (GRCm39)	R785L	probably benign	Het
Mcur1	C	A	13: 43,697,931 (GRCm39)		probably null	Het
Med12l	A	C	3: 59,165,675 (GRCm39)	R1464S	probably damaging	Het
Mycbp2	A	T	14: 103,520,115 (GRCm39)	M767K	possibly damaging	Het
Naalad2	T	C	9: 18,234,783 (GRCm39)	I762V	probably benign	Het
Nfkbid	A	G	7: 30,125,681 (GRCm39)	T357A	possibly damaging	Het
Pcdh17	A	G	14: 84,770,989 (GRCm39)	R1156G	possibly damaging	Het
Pcdhb1	T	C	18: 37,400,445 (GRCm39)	S799P	possibly damaging	Het
Pde3a	A	T	6: 141,444,472 (GRCm39)	E1093D	probably benign	Het
Plcg1	T	C	2: 160,595,846 (GRCm39)	Y572H	possibly damaging	Het
Plxna4	A	G	6: 32,494,199 (GRCm39)	L139P	probably damaging	Het
Psma1	A	G	7: 113,873,683 (GRCm39)	Y6H	probably damaging	Het
Psmd2	A	G	16: 20,471,377 (GRCm39)	E76G	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Pyy	T	G	11: 101,998,099 (GRCm39)	D27A	possibly damaging	Het
Slc22a2	A	G	17: 12,803,228 (GRCm39)	T21A	probably benign	Het
Sult1c2	A	C	17: 54,145,422 (GRCm39)	W85G	probably damaging	Het
Syt12	C	T	19: 4,503,978 (GRCm39)	D218N	probably damaging	Het
Tln1	C	T	4: 43,540,616 (GRCm39)	V1462M	probably damaging	Het
Tor1aip2	T	A	1: 155,927,722 (GRCm39)	N33K	possibly damaging	Het
Usp17lb	C	A	7: 104,490,798 (GRCm39)	W43L	probably benign	Het
Vmn1r76	A	G	7: 11,664,612 (GRCm39)	Y201H	possibly damaging	Het
Wnk1	C	A	6: 120,015,173 (GRCm39)		probably benign	Het
Wrnip1	A	G	13: 32,986,732 (GRCm39)	D171G	probably benign	Het
Zar1	T	A	5: 72,738,159 (GRCm39)	N81I	probably damaging	Het
Zbtb45	T	C	7: 12,741,083 (GRCm39)	T392A	probably benign	Het
Zfp445	T	C	9: 122,683,843 (GRCm39)	E272G	probably damaging	Het

Other mutations in Slc25a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02887:Slc25a2	APN	18	37,770,939 (GRCm39)	missense	probably benign	0.00
R1632:Slc25a2	UTSW	18	37,770,740 (GRCm39)	missense	possibly damaging	0.81
R2178:Slc25a2	UTSW	18	37,771,311 (GRCm39)	missense	probably benign	0.00
R5952:Slc25a2	UTSW	18	37,771,335 (GRCm39)	missense	probably benign
R6256:Slc25a2	UTSW	18	37,770,776 (GRCm39)	splice site	probably null
R7239:Slc25a2	UTSW	18	37,770,748 (GRCm39)	missense	probably benign	0.00
R8931:Slc25a2	UTSW	18	37,771,089 (GRCm39)	missense	probably damaging	1.00
R9239:Slc25a2	UTSW	18	37,771,169 (GRCm39)	missense	possibly damaging	0.50
Z1177:Slc25a2	UTSW	18	37,771,487 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGGACAGGGCCTAGTTCATC -3'
(R):5'- ATGTCACCCAGGGTTCTGTC -3'

Sequencing Primer
(F):5'- GACAGGGCCTAGTTCATCCTTTG -3'
(R):5'- CAGGGTTCTGTCCTGTTCATG -3'

Posted On

2019-05-15