Incidental Mutation 'R7512:Ly75'
ID 582129
Institutional Source Beutler Lab
Gene Symbol Ly75
Ensembl Gene ENSMUSG00000026980
Gene Name lymphocyte antigen 75
Synonyms DEC-205, CD205
MMRRC Submission 045585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7512 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 60122447-60213617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60164907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 757 (V757D)
Ref Sequence ENSEMBL: ENSMUSP00000028362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028362] [ENSMUST00000112533]
AlphaFold Q60767
Predicted Effect probably damaging
Transcript: ENSMUST00000028362
AA Change: V757D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: V757D

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: V757D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: V757D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C T 11: 109,829,275 (GRCm39) A1395T probably benign Het
Ank3 A G 10: 69,826,691 (GRCm39) K1787E Het
Atg2a C T 19: 6,310,106 (GRCm39) A1763V probably damaging Het
Bdp1 T C 13: 100,187,457 (GRCm39) I1637V probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camsap3 A G 8: 3,648,740 (GRCm39) T20A probably benign Het
Ccnt2 T A 1: 127,730,031 (GRCm39) S303T possibly damaging Het
Cdh3 C T 8: 107,265,640 (GRCm39) Q228* probably null Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dock2 A C 11: 34,262,542 (GRCm39) C938G possibly damaging Het
Dync1i1 G T 6: 5,969,410 (GRCm39) V412L possibly damaging Het
Eif1ad6 G T 12: 87,668,751 (GRCm39) E128* probably null Het
Entrep2 C T 7: 64,805,918 (GRCm39) A52T probably benign Het
Fam185a G A 5: 21,652,356 (GRCm39) probably null Het
Fcho1 A G 8: 72,169,507 (GRCm39) L133P possibly damaging Het
Galnt12 G A 4: 47,108,406 (GRCm39) R181H possibly damaging Het
Gen1 A G 12: 11,310,977 (GRCm39) V85A possibly damaging Het
Gm12185 A T 11: 48,806,717 (GRCm39) I158K probably benign Het
Gm5624 T C 14: 44,799,312 (GRCm39) R82G Het
Grap2 A C 15: 80,532,754 (GRCm39) N307T probably benign Het
H6pd A G 4: 150,080,405 (GRCm39) F147L probably benign Het
Haspin A T 11: 73,027,418 (GRCm39) I557N probably damaging Het
Hectd4 A T 5: 121,435,172 (GRCm39) K961N possibly damaging Het
Helz2 A G 2: 180,872,647 (GRCm39) M2495T probably benign Het
Helz2 A T 2: 180,877,393 (GRCm39) probably null Het
Impdh1 T C 6: 29,207,168 (GRCm39) I59V probably benign Het
Kcnn1 A T 8: 71,307,293 (GRCm39) L200Q possibly damaging Het
Kif5c T A 2: 49,590,977 (GRCm39) H276Q probably damaging Het
Kntc1 T C 5: 123,929,001 (GRCm39) L1259P probably damaging Het
Krtap4-1 A T 11: 99,518,859 (GRCm39) C50* probably null Het
Lat2 T A 5: 134,634,798 (GRCm39) D114V probably damaging Het
Lrrc41 A G 4: 115,950,191 (GRCm39) T535A possibly damaging Het
Masp1 C A 16: 23,288,874 (GRCm39) R642L probably damaging Het
Morn3 A G 5: 123,175,343 (GRCm39) probably null Het
Mpl A T 4: 118,306,089 (GRCm39) I384N Het
Mtmr14 C T 6: 113,245,652 (GRCm39) Q409* probably null Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Oit3 T C 10: 59,274,716 (GRCm39) Y28C probably damaging Het
Or2z8 T A 8: 72,812,367 (GRCm39) I281N probably damaging Het
Or4x12-ps1 A G 2: 89,916,040 (GRCm39) I255T possibly damaging Het
Or5ac22 T A 16: 59,135,390 (GRCm39) N127Y probably damaging Het
Pcdh15 T C 10: 74,477,214 (GRCm39) Y186H possibly damaging Het
Pcdhgb1 T A 18: 37,815,418 (GRCm39) D636E probably damaging Het
Pdgfra A T 5: 75,355,675 (GRCm39) R1062* probably null Het
Pds5b T C 5: 150,711,807 (GRCm39) F922L probably damaging Het
Pip5k1c G A 10: 81,150,953 (GRCm39) probably null Het
Ppp2r3d T C 9: 101,052,532 (GRCm39) T226A possibly damaging Het
Ptprh G A 7: 4,574,780 (GRCm39) T413I possibly damaging Het
Rora C A 9: 69,281,367 (GRCm39) D382E probably benign Het
Sacs T A 14: 61,441,879 (GRCm39) N1308K probably benign Het
Sgce C T 6: 4,707,192 (GRCm39) D218N possibly damaging Het
Slc34a3 A T 2: 25,122,253 (GRCm39) probably null Het
Slit1 T C 19: 41,589,074 (GRCm39) Y1471C probably damaging Het
Smarca2 G T 19: 26,661,209 (GRCm39) V935L possibly damaging Het
Smchd1 T C 17: 71,688,364 (GRCm39) N1298S possibly damaging Het
Sort1 T A 3: 108,233,323 (GRCm39) probably null Het
Spata13 T C 14: 60,989,226 (GRCm39) L964P probably damaging Het
Spata31h1 G A 10: 82,128,469 (GRCm39) L1514F probably benign Het
Trav7-6 C A 14: 53,954,552 (GRCm39) D47E probably benign Het
Ubap2l A G 3: 89,917,803 (GRCm39) F864L unknown Het
Vmn2r102 C T 17: 19,914,363 (GRCm39) P643S probably damaging Het
Zfp112 T A 7: 23,824,604 (GRCm39) C195S possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
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
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'- CAAGGACCTGCCCAATTTTGAC -3'
(R):5'- ACTTGGAAAACCCTTGCCCG -3'

Sequencing Primer
(F):5'- AATTTTGACCTCTGCACTGCTG -3'
(R):5'- TTGCCCGAGCTGCTGAGTTAC -3'
Posted On 2019-10-17