Mutagenetix > Incidental Mutation

Incidental Mutation 'R2244:Ly75'

240595

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

040244-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2244 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60122447-60213617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60180257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 640 (D640G)

Ref Sequence

ENSEMBL: ENSMUSP00000028362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028362] [ENSMUST00000112533]

AlphaFold

Q60767

Predicted Effect

probably benign
Transcript: ENSMUST00000028362
AA Change: D640G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: D640G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
RICIN	33	146	2.63e-17	SMART
FN2	162	209	1.22e-23	SMART
CLECT	216	341	7.36e-32	SMART
CLECT	361	486	9.28e-29	SMART
CLECT	501	624	1.11e-17	SMART
CLECT	643	791	1.93e-26	SMART
CLECT	811	932	7.94e-2	SMART
CLECT	952	1091	5.81e-21	SMART
CLECT	1104	1222	1.04e-22	SMART
CLECT	1240	1382	3.48e-10	SMART
CLECT	1395	1513	9.59e-22	SMART
CLECT	1530	1661	7.79e-22	SMART
transmembrane domain	1670	1692	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112533
AA Change: D640G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: D640G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
RICIN	33	146	2.63e-17	SMART
FN2	162	209	1.22e-23	SMART
CLECT	216	341	7.36e-32	SMART
CLECT	361	486	9.28e-29	SMART
CLECT	501	624	1.11e-17	SMART
CLECT	643	791	1.93e-26	SMART
CLECT	811	932	7.94e-2	SMART
CLECT	952	1091	5.81e-21	SMART
CLECT	1104	1222	1.04e-22	SMART
CLECT	1240	1382	3.48e-10	SMART
CLECT	1395	1513	9.59e-22	SMART
CLECT	1530	1661	7.79e-22	SMART
transmembrane domain	1670	1692	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151984

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display abnormalities in CD8-positive T cell morphology and cytotoxic T cell physiology. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(5)

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	G	7: 132,484,940 (GRCm39)	T328A	probably benign	Het
Aen	T	C	7: 78,557,045 (GRCm39)	Y156H	probably damaging	Het
Aip	T	C	19: 4,164,796 (GRCm39)	D263G	probably benign	Het
Car1	T	A	3: 14,835,912 (GRCm39)	I70F	possibly damaging	Het
Cc2d2a	T	A	5: 43,889,775 (GRCm39)	F1357Y	probably damaging	Het
Cit	A	G	5: 116,064,564 (GRCm39)	E482G	probably damaging	Het
Dennd4c	C	T	4: 86,692,780 (GRCm39)	P97S	probably damaging	Het
Fbxw24	T	C	9: 109,434,117 (GRCm39)	T398A	possibly damaging	Het
Fpr3	T	C	17: 18,191,449 (GRCm39)	F240S	probably benign	Het
Herc6	A	T	6: 57,575,602 (GRCm39)	R208*	probably null	Het
Itsn1	A	G	16: 91,650,659 (GRCm39)	N928S	probably null	Het
Mfsd4a	T	A	1: 131,956,243 (GRCm39)	E507V	probably benign	Het
Nyap1	T	C	5: 137,733,576 (GRCm39)	T486A	probably damaging	Het
Or11g2	G	A	14: 50,856,114 (GRCm39)	C145Y	probably damaging	Het
Pgam2	T	C	11: 5,751,723 (GRCm39)	T238A	probably benign	Het
Pgm2	A	G	5: 64,264,045 (GRCm39)	D343G	probably benign	Het
Rbpjl	G	T	2: 164,245,137 (GRCm39)		probably benign	Het
Rhobtb2	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	14: 70,024,976 (GRCm39)		probably benign	Het
Selp	G	T	1: 163,964,855 (GRCm39)	E506*	probably null	Het
Sgo2a	T	C	1: 58,056,213 (GRCm39)	I799T	probably benign	Het
Slc45a2	A	G	15: 11,003,087 (GRCm39)	T187A	probably benign	Het
Tenm2	A	T	11: 36,755,689 (GRCm39)	L103H	probably damaging	Het
Thbs2	A	G	17: 14,891,675 (GRCm39)	I954T	probably damaging	Het
Usp20	T	C	2: 30,900,343 (GRCm39)	S286P	possibly damaging	Het

Other mutations in Ly75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Ly75	APN	2	60,206,421 (GRCm39)	missense	probably damaging	1.00
IGL01072:Ly75	APN	2	60,184,840 (GRCm39)	missense	probably damaging	1.00
IGL01409:Ly75	APN	2	60,152,036 (GRCm39)	splice site	probably null
IGL01432:Ly75	APN	2	60,206,351 (GRCm39)	missense	probably damaging	1.00
IGL01626:Ly75	APN	2	60,131,359 (GRCm39)	missense	probably benign	0.13
IGL01690:Ly75	APN	2	60,168,655 (GRCm39)	missense	probably damaging	1.00
IGL01862:Ly75	APN	2	60,129,516 (GRCm39)	missense	probably damaging	1.00
IGL01982:Ly75	APN	2	60,142,108 (GRCm39)	missense	probably damaging	1.00
IGL02075:Ly75	APN	2	60,182,700 (GRCm39)	missense	probably damaging	0.99
IGL02338:Ly75	APN	2	60,184,796 (GRCm39)	missense	probably benign	0.04
IGL02364:Ly75	APN	2	60,188,851 (GRCm39)	missense	probably damaging	1.00
IGL02456:Ly75	APN	2	60,124,125 (GRCm39)	missense	probably benign	0.09
IGL02474:Ly75	APN	2	60,213,526 (GRCm39)	missense	probably null	1.00
IGL02608:Ly75	APN	2	60,152,244 (GRCm39)	missense	probably benign	0.41
IGL02986:Ly75	APN	2	60,138,535 (GRCm39)	missense	probably damaging	1.00
IGL03015:Ly75	APN	2	60,206,504 (GRCm39)	missense	probably damaging	1.00
IGL03049:Ly75	APN	2	60,182,414 (GRCm39)	missense	probably damaging	0.99
euphues	UTSW	2	60,129,389 (GRCm39)	critical splice donor site	probably null
four_score	UTSW	2	60,142,115 (GRCm39)	missense	possibly damaging	0.75
lyly	UTSW	2	60,158,217 (GRCm39)	missense	possibly damaging	0.49
Witty	UTSW	2	60,184,844 (GRCm39)	missense	probably damaging	1.00
D605:Ly75	UTSW	2	60,182,696 (GRCm39)	critical splice donor site	probably null
R0046:Ly75	UTSW	2	60,169,801 (GRCm39)	intron	probably benign
R0055:Ly75	UTSW	2	60,152,262 (GRCm39)	missense	probably benign	0.01
R0055:Ly75	UTSW	2	60,152,262 (GRCm39)	missense	probably benign	0.01
R0071:Ly75	UTSW	2	60,152,163 (GRCm39)	missense	probably benign	0.01
R0071:Ly75	UTSW	2	60,152,163 (GRCm39)	missense	probably benign	0.01
R0285:Ly75	UTSW	2	60,148,663 (GRCm39)	missense	probably damaging	1.00
R0387:Ly75	UTSW	2	60,136,748 (GRCm39)	missense	probably benign	0.20
R0492:Ly75	UTSW	2	60,138,620 (GRCm39)	missense	probably damaging	1.00
R0688:Ly75	UTSW	2	60,146,565 (GRCm39)	missense	probably benign	0.41
R1367:Ly75	UTSW	2	60,124,102 (GRCm39)	splice site	probably null
R1463:Ly75	UTSW	2	60,199,101 (GRCm39)	critical splice donor site	probably null
R1581:Ly75	UTSW	2	60,158,237 (GRCm39)	missense	probably damaging	1.00
R1663:Ly75	UTSW	2	60,144,578 (GRCm39)	missense	probably damaging	1.00
R1818:Ly75	UTSW	2	60,142,121 (GRCm39)	missense	probably damaging	1.00
R1881:Ly75	UTSW	2	60,180,284 (GRCm39)	missense	probably benign	0.00
R2905:Ly75	UTSW	2	60,164,898 (GRCm39)	missense	probably benign	0.00
R3967:Ly75	UTSW	2	60,158,217 (GRCm39)	missense	possibly damaging	0.49
R3968:Ly75	UTSW	2	60,158,217 (GRCm39)	missense	possibly damaging	0.49
R4039:Ly75	UTSW	2	60,183,339 (GRCm39)	missense	probably damaging	1.00
R4406:Ly75	UTSW	2	60,184,894 (GRCm39)	missense	probably damaging	1.00
R4526:Ly75	UTSW	2	60,161,117 (GRCm39)	missense	probably benign	0.09
R4647:Ly75	UTSW	2	60,138,622 (GRCm39)	missense	probably damaging	1.00
R4795:Ly75	UTSW	2	60,180,284 (GRCm39)	missense	probably benign	0.00
R4796:Ly75	UTSW	2	60,180,284 (GRCm39)	missense	probably benign	0.00
R4962:Ly75	UTSW	2	60,182,469 (GRCm39)	missense	probably damaging	1.00
R4979:Ly75	UTSW	2	60,206,238 (GRCm39)	missense	probably damaging	1.00
R5072:Ly75	UTSW	2	60,206,307 (GRCm39)	missense	probably damaging	1.00
R5288:Ly75	UTSW	2	60,133,985 (GRCm39)	missense	probably damaging	1.00
R5373:Ly75	UTSW	2	60,142,115 (GRCm39)	missense	possibly damaging	0.75
R5374:Ly75	UTSW	2	60,142,115 (GRCm39)	missense	possibly damaging	0.75
R5384:Ly75	UTSW	2	60,164,831 (GRCm39)	nonsense	probably null
R5385:Ly75	UTSW	2	60,133,985 (GRCm39)	missense	probably damaging	1.00
R5395:Ly75	UTSW	2	60,195,455 (GRCm39)	missense	probably benign	0.41
R5531:Ly75	UTSW	2	60,195,489 (GRCm39)	missense	probably damaging	0.98
R5662:Ly75	UTSW	2	60,182,725 (GRCm39)	missense	probably damaging	1.00
R5667:Ly75	UTSW	2	60,138,655 (GRCm39)	missense	probably damaging	1.00
R5668:Ly75	UTSW	2	60,184,844 (GRCm39)	missense	probably damaging	1.00
R5671:Ly75	UTSW	2	60,138,655 (GRCm39)	missense	probably damaging	1.00
R5677:Ly75	UTSW	2	60,129,426 (GRCm39)	missense	probably benign	0.00
R5764:Ly75	UTSW	2	60,148,783 (GRCm39)	missense	probably benign
R5896:Ly75	UTSW	2	60,213,490 (GRCm39)	missense	probably benign
R6025:Ly75	UTSW	2	60,206,306 (GRCm39)	missense	probably damaging	1.00
R6113:Ly75	UTSW	2	60,199,217 (GRCm39)	missense	probably benign	0.04
R6448:Ly75	UTSW	2	60,129,389 (GRCm39)	critical splice donor site	probably null
R6601:Ly75	UTSW	2	60,148,720 (GRCm39)	missense	probably benign	0.11
R6745:Ly75	UTSW	2	60,138,523 (GRCm39)	missense	probably damaging	1.00
R6955:Ly75	UTSW	2	60,158,217 (GRCm39)	missense	possibly damaging	0.49
R6960:Ly75	UTSW	2	60,136,749 (GRCm39)	missense	probably benign
R7100:Ly75	UTSW	2	60,136,778 (GRCm39)	missense	probably benign
R7110:Ly75	UTSW	2	60,206,528 (GRCm39)	missense	probably benign	0.31
R7203:Ly75	UTSW	2	60,154,196 (GRCm39)	nonsense	probably null
R7291:Ly75	UTSW	2	60,160,337 (GRCm39)	missense	probably damaging	0.98
R7308:Ly75	UTSW	2	60,164,859 (GRCm39)	missense	probably benign	0.04
R7447:Ly75	UTSW	2	60,164,818 (GRCm39)	nonsense	probably null
R7512:Ly75	UTSW	2	60,164,907 (GRCm39)	missense	probably damaging	1.00
R7595:Ly75	UTSW	2	60,124,171 (GRCm39)	missense	probably benign	0.01
R7976:Ly75	UTSW	2	60,195,432 (GRCm39)	missense	probably damaging	1.00
R8005:Ly75	UTSW	2	60,163,278 (GRCm39)	missense	probably damaging	1.00
R8171:Ly75	UTSW	2	60,144,572 (GRCm39)	missense	possibly damaging	0.51
R8392:Ly75	UTSW	2	60,180,284 (GRCm39)	missense	probably benign	0.00
R8705:Ly75	UTSW	2	60,148,729 (GRCm39)	missense	probably damaging	0.98
R8714:Ly75	UTSW	2	60,164,829 (GRCm39)	missense	probably damaging	1.00
R8798:Ly75	UTSW	2	60,154,270 (GRCm39)	missense	probably benign	0.32
R8799:Ly75	UTSW	2	60,178,785 (GRCm39)	missense	probably damaging	1.00
R8834:Ly75	UTSW	2	60,161,433 (GRCm39)	missense	probably benign
R8990:Ly75	UTSW	2	60,188,903 (GRCm39)	missense	probably benign	0.10
R9015:Ly75	UTSW	2	60,146,442 (GRCm39)	missense	probably benign
R9547:Ly75	UTSW	2	60,161,069 (GRCm39)	critical splice donor site	probably null
R9628:Ly75	UTSW	2	60,158,285 (GRCm39)	missense	probably damaging	1.00
R9659:Ly75	UTSW	2	60,168,665 (GRCm39)	missense	probably damaging	1.00
R9660:Ly75	UTSW	2	60,154,184 (GRCm39)	missense	probably damaging	1.00
R9747:Ly75	UTSW	2	60,136,672 (GRCm39)	critical splice donor site	probably null
X0025:Ly75	UTSW	2	60,184,819 (GRCm39)	missense	probably damaging	1.00
Z1177:Ly75	UTSW	2	60,182,477 (GRCm39)	missense	possibly damaging	0.65
Z1177:Ly75	UTSW	2	60,180,348 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGAAGCTTTGCTAAGGATGCTG -3'
(R):5'- CACCCTGATTGCACCTGATC -3'

Sequencing Primer
(F):5'- GGATGCTGTGCTCCCAAACATTG -3'
(R):5'- GATTGCACCTGATCTCCTCTTAAAG -3'

Posted On

2014-10-15