Mutagenetix > Incidental Mutation

Incidental Mutation 'R4346:Scart2'

324335

Institutional Source

Beutler Lab

Gene Symbol

Scart2

Ensembl Gene

ENSMUSG00000054672

Gene Name

scavenger receptor family member expressed on T cells 2

Synonyms

5830411N06Rik

MMRRC Submission

041667-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139827197-139880649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139827878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 29 (V29M)

Ref Sequence

ENSEMBL: ENSMUSP00000131905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093984] [ENSMUST00000164583]

AlphaFold

B3F5L4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000059882

SMART Domains

Protein: ENSMUSP00000061346
Gene: ENSMUSG00000054672

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SR	29	130	1.49e-18	SMART
SR	137	233	2.53e-4	SMART
SR	238	336	1.65e-34	SMART
SR	340	440	4.53e-32	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093984
AA Change: V29M

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: V29M

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SR	29	130	1.49e-18	SMART
SR	137	233	2.53e-4	SMART
SR	238	336	1.65e-34	SMART
SR	340	440	4.53e-32	SMART
SR	446	546	8.78e-30	SMART
SR	551	651	1.26e-53	SMART
SR	656	756	2.88e-16	SMART
SR	783	883	7.62e-48	SMART
transmembrane domain	903	925	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164583
AA Change: V29M

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: V29M

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SR	29	130	1.49e-18	SMART
SR	137	233	2.53e-4	SMART
Blast:SR	291	349	5e-12	BLAST
SR	354	452	1.65e-34	SMART
SR	456	556	4.53e-32	SMART
SR	562	662	8.78e-30	SMART
SR	667	767	1.26e-53	SMART
SR	772	872	2.88e-16	SMART
SR	899	999	7.62e-48	SMART
transmembrane domain	1019	1041	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210212

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	G	A	2: 154,887,651 (GRCm39)	R37Q	probably benign	Het
Adam12	T	C	7: 133,583,264 (GRCm39)	T128A	possibly damaging	Het
Dnah8	A	T	17: 30,944,072 (GRCm39)	Q1763L	possibly damaging	Het
Dvl3	G	A	16: 20,350,049 (GRCm39)	R645H	possibly damaging	Het
Egflam	A	T	15: 7,263,759 (GRCm39)	C730*	probably null	Het
Fbxo40	T	C	16: 36,790,525 (GRCm39)	E195G	probably benign	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Gba2	A	G	4: 43,571,337 (GRCm39)	V204A	probably benign	Het
Igkv8-28	C	T	6: 70,121,096 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,988,357 (GRCm39)	M308T	probably damaging	Het
Map1a	A	G	2: 121,131,806 (GRCm39)	N874S	probably benign	Het
Med12l	A	T	3: 58,938,976 (GRCm39)	T37S	probably damaging	Het
Ogfod2	A	G	5: 124,251,357 (GRCm39)	Y57C	probably damaging	Het
Or5b94	A	G	19: 12,651,592 (GRCm39)	T8A	probably benign	Het
Plxnd1	A	G	6: 115,954,941 (GRCm39)	V607A	probably benign	Het
Pnpt1	A	G	11: 29,095,478 (GRCm39)	D409G	probably damaging	Het
Pycr3	G	A	15: 75,790,580 (GRCm39)	T93I	probably damaging	Het
Ros1	A	G	10: 52,044,705 (GRCm39)	Y201H	possibly damaging	Het
Slc25a54	A	G	3: 109,010,055 (GRCm39)	T185A	possibly damaging	Het
Smarcc2	A	G	10: 128,304,692 (GRCm39)	I221V	probably benign	Het
Tnfrsf19	C	A	14: 61,209,429 (GRCm39)		probably null	Het
Ttll11	T	C	2: 35,674,130 (GRCm39)	N599S	probably benign	Het
Ttn	T	G	2: 76,638,926 (GRCm39)	I13919L	probably damaging	Het
Vmn2r63	A	G	7: 42,577,537 (GRCm39)	F334L	possibly damaging	Het
Vps13d	A	G	4: 144,799,099 (GRCm39)		probably benign	Het
Zfp646	A	G	7: 127,478,681 (GRCm39)	Y286C	probably damaging	Het

Other mutations in Scart2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Scart2	APN	7	139,874,755 (GRCm39)	missense	probably damaging	0.99
IGL01101:Scart2	APN	7	139,876,017 (GRCm39)	missense	probably benign	0.35
IGL01120:Scart2	APN	7	139,876,472 (GRCm39)	missense	probably benign	0.02
IGL01958:Scart2	APN	7	139,854,040 (GRCm39)	missense	probably damaging	1.00
IGL02150:Scart2	APN	7	139,877,772 (GRCm39)	missense	possibly damaging	0.84
IGL02193:Scart2	APN	7	139,828,913 (GRCm39)	missense	probably benign	0.17
IGL02239:Scart2	APN	7	139,875,756 (GRCm39)	missense	probably damaging	1.00
IGL02335:Scart2	APN	7	139,876,453 (GRCm39)	missense	probably damaging	1.00
IGL02569:Scart2	APN	7	139,878,275 (GRCm39)	missense	probably benign	0.01
IGL02993:Scart2	APN	7	139,876,486 (GRCm39)	missense	probably benign	0.07
IGL03261:Scart2	APN	7	139,874,746 (GRCm39)	missense	probably benign	0.00
IGL03365:Scart2	APN	7	139,876,682 (GRCm39)	missense	probably damaging	1.00
IGL03399:Scart2	APN	7	139,827,869 (GRCm39)	missense	probably benign	0.00
IGL03052:Scart2	UTSW	7	139,828,827 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Scart2	UTSW	7	139,853,975 (GRCm39)	missense	possibly damaging	0.53
R0021:Scart2	UTSW	7	139,876,310 (GRCm39)	missense	probably benign	0.15
R0021:Scart2	UTSW	7	139,876,310 (GRCm39)	missense	probably benign	0.15
R0347:Scart2	UTSW	7	139,877,767 (GRCm39)	missense	probably damaging	1.00
R0374:Scart2	UTSW	7	139,828,874 (GRCm39)	missense	probably damaging	1.00
R0639:Scart2	UTSW	7	139,827,872 (GRCm39)	missense	probably benign	0.01
R0667:Scart2	UTSW	7	139,841,450 (GRCm39)	missense	possibly damaging	0.73
R0789:Scart2	UTSW	7	139,828,133 (GRCm39)	missense	probably damaging	1.00
R0959:Scart2	UTSW	7	139,874,704 (GRCm39)	missense	probably damaging	1.00
R1316:Scart2	UTSW	7	139,879,583 (GRCm39)	missense	probably benign	0.09
R1764:Scart2	UTSW	7	139,877,178 (GRCm39)	missense	probably benign	0.00
R2247:Scart2	UTSW	7	139,829,042 (GRCm39)	missense	probably null	0.96
R2379:Scart2	UTSW	7	139,879,682 (GRCm39)	missense	probably benign	0.15
R4112:Scart2	UTSW	7	139,878,281 (GRCm39)	nonsense	probably null
R4114:Scart2	UTSW	7	139,877,823 (GRCm39)	missense	probably damaging	1.00
R4836:Scart2	UTSW	7	139,879,021 (GRCm39)	missense	probably benign
R4956:Scart2	UTSW	7	139,878,275 (GRCm39)	missense	probably benign	0.00
R5208:Scart2	UTSW	7	139,877,949 (GRCm39)	missense	probably benign	0.00
R5571:Scart2	UTSW	7	139,829,036 (GRCm39)	missense	probably damaging	1.00
R5583:Scart2	UTSW	7	139,876,739 (GRCm39)	missense	probably damaging	1.00
R5645:Scart2	UTSW	7	139,828,853 (GRCm39)	missense	possibly damaging	0.95
R6183:Scart2	UTSW	7	139,875,947 (GRCm39)	missense	possibly damaging	0.82
R6995:Scart2	UTSW	7	139,841,514 (GRCm39)	missense	probably benign
R7436:Scart2	UTSW	7	139,841,520 (GRCm39)	missense	probably benign
R7621:Scart2	UTSW	7	139,876,742 (GRCm39)	missense	probably damaging	1.00
R7662:Scart2	UTSW	7	139,874,725 (GRCm39)	missense	possibly damaging	0.58
R7669:Scart2	UTSW	7	139,876,234 (GRCm39)	missense	possibly damaging	0.47
R7686:Scart2	UTSW	7	139,828,965 (GRCm39)	missense	probably benign	0.00
R7985:Scart2	UTSW	7	139,876,806 (GRCm39)	missense	probably damaging	1.00
R8330:Scart2	UTSW	7	139,876,231 (GRCm39)	nonsense	probably null
R8843:Scart2	UTSW	7	139,828,913 (GRCm39)	missense	possibly damaging	0.93
R8888:Scart2	UTSW	7	139,841,532 (GRCm39)	missense	possibly damaging	0.93
R8895:Scart2	UTSW	7	139,841,532 (GRCm39)	missense	possibly damaging	0.93
R9044:Scart2	UTSW	7	139,828,010 (GRCm39)	missense	probably damaging	1.00
R9142:Scart2	UTSW	7	139,877,806 (GRCm39)	missense	probably damaging	1.00
R9152:Scart2	UTSW	7	139,877,256 (GRCm39)	missense	possibly damaging	0.55
R9470:Scart2	UTSW	7	139,827,345 (GRCm39)	missense	probably benign	0.07
R9509:Scart2	UTSW	7	139,879,644 (GRCm39)	nonsense	probably null
R9522:Scart2	UTSW	7	139,853,987 (GRCm39)	missense	possibly damaging	0.73
R9755:Scart2	UTSW	7	139,841,544 (GRCm39)	critical splice donor site	probably null
R9794:Scart2	UTSW	7	139,874,716 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTAATGAGGATGAGTTTTCTTCC -3'
(R):5'- GTGTCAAAACATACCGGGGC -3'

Sequencing Primer
(F):5'- ACTTGCTCTGTAGACAAGGC -3'
(R):5'- TACCGGGGCATAAACTTCACAGAG -3'

Posted On

2015-06-24