Incidental Mutation 'R0492:Ly75'
ID 42520
Institutional Source Beutler Lab
Gene Symbol Ly75
Ensembl Gene ENSMUSG00000026980
Gene Name lymphocyte antigen 75
Synonyms DEC-205, CD205
MMRRC Submission 038690-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0492 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 60122447-60213617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60138620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 1416 (W1416R)
Ref Sequence ENSEMBL: ENSMUSP00000108152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028362] [ENSMUST00000112533]
AlphaFold Q60767
Predicted Effect probably damaging
Transcript: ENSMUST00000028362
AA Change: W1416R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: W1416R

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 damaging
Transcript: ENSMUST00000112533
AA Change: W1416R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: W1416R

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
Meta Mutation Damage Score 0.9270 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 99% (99/100)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C G 4: 129,901,624 (GRCm39) P416R probably damaging Het
Adgre1 A G 17: 57,709,742 (GRCm39) D133G unknown Het
Alpl A C 4: 137,476,887 (GRCm39) probably null Het
Ankrd65 T C 4: 155,875,133 (GRCm39) probably benign Het
Baalc A T 15: 38,797,480 (GRCm39) probably benign Het
Bpifb5 A G 2: 154,070,820 (GRCm39) T204A probably benign Het
Bud31 A G 5: 145,083,265 (GRCm39) Y77C probably damaging Het
Calhm6 G A 10: 34,003,647 (GRCm39) R87* probably null Het
Capsl A G 15: 9,461,930 (GRCm39) probably benign Het
Ccna1 A G 3: 54,956,004 (GRCm39) V116A probably damaging Het
Cdc42bpa C A 1: 179,928,755 (GRCm39) H723N probably benign Het
Cfap161 T C 7: 83,443,245 (GRCm39) I40V possibly damaging Het
CK137956 C T 4: 127,845,093 (GRCm39) V217I probably benign Het
Cog5 A G 12: 31,919,460 (GRCm39) T540A probably damaging Het
Cps1 T C 1: 67,196,995 (GRCm39) W349R probably damaging Het
Crispld2 G T 8: 120,752,806 (GRCm39) V285L probably benign Het
Crtc2 T A 3: 90,170,804 (GRCm39) F626I probably damaging Het
Daam1 G A 12: 71,991,154 (GRCm39) R256H unknown Het
Dhx38 G T 8: 110,288,576 (GRCm39) probably benign Het
Dok4 G A 8: 95,591,764 (GRCm39) A324V probably benign Het
Dscam T C 16: 96,626,982 (GRCm39) probably null Het
Dusp16 A T 6: 134,695,365 (GRCm39) S489T probably benign Het
Ecpas A G 4: 58,864,418 (GRCm39) W288R probably damaging Het
Erbin A T 13: 103,970,866 (GRCm39) Y917N probably damaging Het
F13b A T 1: 139,450,297 (GRCm39) probably null Het
Fdx1 C A 9: 51,874,725 (GRCm39) A15S probably benign Het
Ffar4 A T 19: 38,085,630 (GRCm39) Q19L probably benign Het
Folh1 A C 7: 86,395,400 (GRCm39) V344G probably damaging Het
Fscb T A 12: 64,520,292 (GRCm39) E391D possibly damaging Het
Gigyf2 G A 1: 87,368,568 (GRCm39) G1083R probably damaging Het
Gm14403 C A 2: 177,200,359 (GRCm39) H102N probably benign Het
Gm4847 A G 1: 166,457,961 (GRCm39) F464S probably damaging Het
Gpam A T 19: 55,084,611 (GRCm39) M56K possibly damaging Het
Gpr165 T A X: 95,760,778 (GRCm39) F352I probably damaging Het
Grik2 T G 10: 48,977,260 (GRCm39) I891L probably damaging Het
Gsr T C 8: 34,171,603 (GRCm39) probably benign Het
Hhla1 A G 15: 65,808,140 (GRCm39) F302L probably benign Het
Impg1 T C 9: 80,252,590 (GRCm39) D453G possibly damaging Het
Inpp5d T A 1: 87,625,872 (GRCm39) V495E possibly damaging Het
Iqca1l A T 5: 24,759,626 (GRCm39) L48Q probably damaging Het
Iqce A T 5: 140,660,990 (GRCm39) L450H probably damaging Het
Itfg2 A G 6: 128,390,486 (GRCm39) probably null Het
Kif13a A G 13: 46,966,218 (GRCm39) V400A possibly damaging Het
Kif7 T C 7: 79,363,629 (GRCm39) Y93C probably damaging Het
Krt33a A G 11: 99,906,909 (GRCm39) V22A probably benign Het
Lct T C 1: 128,228,319 (GRCm39) D1058G probably damaging Het
Lrp6 G T 6: 134,457,481 (GRCm39) D774E possibly damaging Het
Lrrc9 T A 12: 72,525,537 (GRCm39) S828R possibly damaging Het
Mdh2 T C 5: 135,819,004 (GRCm39) I320T possibly damaging Het
Med13l T A 5: 118,876,560 (GRCm39) V912E probably damaging Het
Mgarp T C 3: 51,296,456 (GRCm39) D182G possibly damaging Het
Mllt10 T C 2: 18,151,698 (GRCm39) probably benign Het
Mmp28 G A 11: 83,334,629 (GRCm39) A375V probably damaging Het
Mrps23 T A 11: 88,101,511 (GRCm39) H133Q probably benign Het
Msh6 T C 17: 88,282,679 (GRCm39) S35P probably benign Het
Myo3a A G 2: 22,328,447 (GRCm39) D347G possibly damaging Het
Npc1l1 T C 11: 6,173,040 (GRCm39) K800E possibly damaging Het
Or2ag13 A T 7: 106,473,084 (GRCm39) Y123N probably damaging Het
Or51ai2 T C 7: 103,586,971 (GRCm39) I128T probably benign Het
Or5i1 T G 2: 87,613,166 (GRCm39) I94S probably damaging Het
Or5m9 T C 2: 85,876,931 (GRCm39) V35A probably benign Het
Or5m9 T C 2: 85,877,278 (GRCm39) F151L possibly damaging Het
Or5t7 G A 2: 86,506,834 (GRCm39) P281L probably damaging Het
Or6p1 T A 1: 174,258,129 (GRCm39) I45N possibly damaging Het
Osmr A C 15: 6,853,999 (GRCm39) W570G probably damaging Het
Otol1 A T 3: 69,935,117 (GRCm39) I370F probably damaging Het
Pank2 A G 2: 131,122,180 (GRCm39) Y235C probably damaging Het
Pias2 T C 18: 77,193,581 (GRCm39) S187P probably damaging Het
Pkhd1l1 A G 15: 44,383,086 (GRCm39) N1115S probably benign Het
Pld1 G T 3: 28,163,966 (GRCm39) A800S probably damaging Het
Prex2 T C 1: 11,256,857 (GRCm39) probably benign Het
Ptpn3 T C 4: 57,194,304 (GRCm39) Q908R probably benign Het
Rab3gap2 T A 1: 184,984,589 (GRCm39) probably benign Het
Rbm24 A T 13: 46,573,826 (GRCm39) N82Y probably damaging Het
Rpl27 T C 11: 101,336,081 (GRCm39) V47A possibly damaging Het
Serpina1f A G 12: 103,659,826 (GRCm39) V152A possibly damaging Het
Serpina5 A G 12: 104,068,392 (GRCm39) Y151C probably damaging Het
Serpinb7 A G 1: 107,379,737 (GRCm39) *381W probably null Het
Sh2b2 A G 5: 136,261,117 (GRCm39) F33S probably damaging Het
Slc22a2 A C 17: 12,834,159 (GRCm39) I476L probably benign Het
Slc6a12 A T 6: 121,332,331 (GRCm39) I222F probably benign Het
Smim26 G A 2: 144,437,033 (GRCm39) D61N probably damaging Het
Soat1 A T 1: 156,268,924 (GRCm39) Y209N probably benign Het
Sorl1 T C 9: 41,902,667 (GRCm39) H1630R probably null Het
Sptlc2 A T 12: 87,393,580 (GRCm39) probably null Het
Strn3 G A 12: 51,657,187 (GRCm39) T642I probably damaging Het
Syce1l T A 8: 114,380,700 (GRCm39) D137E possibly damaging Het
Syne2 T C 12: 76,028,837 (GRCm39) probably null Het
Tcf25 C A 8: 124,108,203 (GRCm39) P86Q probably benign Het
Tmem19 A T 10: 115,197,715 (GRCm39) Y43* probably null Het
Tmem30b T C 12: 73,592,942 (GRCm39) N58D probably benign Het
Tnn A C 1: 159,948,327 (GRCm39) I795M probably damaging Het
Tnpo1 A G 13: 98,991,954 (GRCm39) Y641H probably damaging Het
Tra2a A T 6: 49,227,889 (GRCm39) probably benign Het
Trappc8 A T 18: 20,999,243 (GRCm39) F295I probably benign Het
Vmn2r101 T A 17: 19,809,245 (GRCm39) W125R probably damaging Het
Vps8 C A 16: 21,261,107 (GRCm39) F82L probably damaging Het
Ythdf2 A T 4: 131,931,779 (GRCm39) S460R 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
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
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'- ACTTCAGGGACCAGATAGAGCACAG -3'
(R):5'- GTAACTGCCTCCTTTACAGTCAGCC -3'

Sequencing Primer
(F):5'- TTAATCCTGTGAACCCGAGATGG -3'
(R):5'- CCTGCCACAGTTCATTCCAT -3'
Posted On 2013-05-23