Incidental Mutation 'R5395:Ly75'
ID 426098
Institutional Source Beutler Lab
Gene Symbol Ly75
Ensembl Gene ENSMUSG00000026980
Gene Name lymphocyte antigen 75
Synonyms DEC-205, CD205
MMRRC Submission 042967-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5395 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 60122447-60213617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60195455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 234 (N234K)
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: N234K

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: N234K

DomainStartEndE-ValueType
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: N234K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: N234K

DomainStartEndE-ValueType
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: ENSMUST00000124654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151984
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,874,590 (GRCm39) I268V probably benign Het
Actn1 T A 12: 80,217,477 (GRCm39) I782F probably benign Het
Adamdec1 A C 14: 68,808,352 (GRCm39) S333A probably benign Het
Agbl5 C A 5: 31,047,682 (GRCm39) T58N probably damaging Het
Apoo-ps T A 13: 107,550,993 (GRCm39) noncoding transcript Het
Arhgef10l T C 4: 140,297,601 (GRCm39) N277S probably benign Het
Ascc2 A G 11: 4,609,273 (GRCm39) E241G possibly damaging Het
Atp13a4 A T 16: 29,239,706 (GRCm39) Y835* probably null Het
Atp13a4 A G 16: 29,275,422 (GRCm39) V354A possibly damaging Het
Bcas3 T C 11: 85,716,075 (GRCm39) S426P probably damaging Het
Birc2 T C 9: 7,861,175 (GRCm39) R48G probably damaging Het
Cacna2d4 T C 6: 119,248,379 (GRCm39) S397P possibly damaging Het
Ccng2 T C 5: 93,417,257 (GRCm39) M91T possibly damaging Het
Clk3 G A 9: 57,660,622 (GRCm39) T473M probably damaging Het
Cog2 T A 8: 125,271,960 (GRCm39) H491Q probably benign Het
Cyp4f40 C T 17: 32,888,827 (GRCm39) T202I probably benign Het
Dennd1a A T 2: 37,692,140 (GRCm39) F181I probably damaging Het
Fcrl6 G T 1: 172,426,287 (GRCm39) A170D possibly damaging Het
Fev T C 1: 74,921,823 (GRCm39) probably null Het
Flnb A G 14: 7,883,881 (GRCm38) N369S probably benign Het
Flt3 A G 5: 147,291,633 (GRCm39) F606L probably damaging Het
Gdf9 T C 11: 53,324,624 (GRCm39) V131A probably benign Het
Gdnf T A 15: 7,864,165 (GRCm39) L192Q probably damaging Het
Gjc2 A T 11: 59,068,315 (GRCm39) C56S possibly damaging Het
Gli3 T C 13: 15,889,535 (GRCm39) F550L probably damaging Het
Gm1110 T C 9: 26,800,928 (GRCm39) E422G probably benign Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gnb2 A G 5: 137,526,788 (GRCm39) S334P probably damaging Het
Icam2 A T 11: 106,273,299 (GRCm39) probably null Het
Inca1 C T 11: 70,581,264 (GRCm39) probably null Het
Itgb8 A C 12: 119,134,476 (GRCm39) C530W probably damaging Het
Lrp1 T C 10: 127,431,166 (GRCm39) D332G probably damaging Het
Mcm5 G A 8: 75,849,654 (GRCm39) S542N probably benign Het
Mcm9 A T 10: 53,414,788 (GRCm39) N97K possibly damaging Het
Morc2a G A 11: 3,638,232 (GRCm39) R986H possibly damaging Het
Neu2 T A 1: 87,524,397 (GRCm39) probably null Het
Nfatc1 G A 18: 80,679,235 (GRCm39) P718S possibly damaging Het
Nol6 G A 4: 41,118,392 (GRCm39) probably benign Het
Or10j7 A T 1: 173,011,247 (GRCm39) Y251* probably null Het
Otogl T C 10: 107,652,999 (GRCm39) N1118D probably benign Het
Pcdh15 T A 10: 74,021,119 (GRCm39) I111K probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Piwil2 G T 14: 70,632,846 (GRCm39) N575K probably benign Het
Pou4f2 T A 8: 79,161,701 (GRCm39) I301F probably damaging Het
Prkd1 T C 12: 50,438,215 (GRCm39) N409S probably damaging Het
Ptpn21 T G 12: 98,681,376 (GRCm39) K86T probably damaging Het
Raly T A 2: 154,705,927 (GRCm39) probably null Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sdr16c5 T C 4: 4,016,277 (GRCm39) S50G probably benign Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Six6 T A 12: 72,988,475 (GRCm39) L216* probably null Het
Slc20a1 A T 2: 129,050,257 (GRCm39) N472Y probably damaging Het
Slc35d1 C T 4: 103,068,572 (GRCm39) probably null Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slc7a8 C A 14: 54,970,734 (GRCm39) G306* probably null Het
Slc9a8 T A 2: 167,309,642 (GRCm39) F335L probably damaging Het
Smyd1 T G 6: 71,196,374 (GRCm39) K338T possibly damaging Het
Snd1 T A 6: 28,526,183 (GRCm39) V187E probably damaging Het
Spag9 T G 11: 93,982,577 (GRCm39) probably null Het
Tnfsf9 C A 17: 57,412,592 (GRCm39) T54K probably benign Het
Trim24 T G 6: 37,934,679 (GRCm39) V798G probably damaging Het
Tyr C A 7: 87,121,698 (GRCm39) A365S probably damaging Het
Usp43 T A 11: 67,788,184 (GRCm39) probably null Het
Vmn2r55 T C 7: 12,385,874 (GRCm39) D702G probably damaging Het
Vmn2r72 A G 7: 85,400,105 (GRCm39) S315P possibly damaging Het
Wdr64 T A 1: 175,583,164 (GRCm39) F367I probably damaging Het
Zc3h7b G A 15: 81,656,702 (GRCm39) R173K possibly damaging Het
Zfp493 T A 13: 67,931,965 (GRCm39) C21* probably null Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zpbp2 T A 11: 98,449,039 (GRCm39) V275D probably damaging Het
Other mutations in Ly75
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2244:Ly75 UTSW 2 60,180,257 (GRCm39) missense probably benign 0.01
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
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'- ATGCCTGGTTATTCAGTGTAGAAG -3'
(R):5'- CACTATGCACTGTGTCTTAGCC -3'

Sequencing Primer
(F):5'- TATTCAGTGTAGAAGAAGAAAGCATC -3'
(R):5'- CCAGATACGTTCCATGTGGTGAC -3'
Posted On 2016-08-04