Incidental Mutation 'R6113:Ly75'
ID 484937
Institutional Source Beutler Lab
Gene Symbol Ly75
Ensembl Gene ENSMUSG00000026980
Gene Name lymphocyte antigen 75
Synonyms DEC-205, CD205
MMRRC Submission 044262-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6113 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 60122447-60213617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 60199217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 175 (I175L)
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: I175L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: I175L

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: I175L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: I175L

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
Meta Mutation Damage Score 0.1757 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.1%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C A 16: 8,390,764 (GRCm39) T7N probably benign Het
Aldh1l2 G T 10: 83,343,998 (GRCm39) C359* probably null Het
Atpsckmt T C 15: 31,608,308 (GRCm39) Y120H probably damaging Het
Bpifb6 G A 2: 153,752,651 (GRCm39) E384K probably benign Het
Chtf18 G A 17: 25,941,841 (GRCm39) R544C probably damaging Het
Cilp2 T C 8: 70,335,009 (GRCm39) D663G probably benign Het
Cplx3 T A 9: 57,509,723 (GRCm39) I92F probably damaging Het
Cr1l T C 1: 194,813,719 (GRCm39) probably benign Het
Cyp1a1 T A 9: 57,609,174 (GRCm39) F323I probably damaging Het
Dclk1 T C 3: 55,397,240 (GRCm39) Y186H probably benign Het
Dclre1c T C 2: 3,453,900 (GRCm39) L261P probably damaging Het
Dcst2 T C 3: 89,275,192 (GRCm39) S312P possibly damaging Het
Dnah17 A G 11: 118,017,101 (GRCm39) L213P probably damaging Het
Dnd1 T A 18: 36,898,448 (GRCm39) Y102F probably damaging Het
Dnm1l T C 16: 16,158,867 (GRCm39) N121S probably benign Het
Dsp T A 13: 38,376,023 (GRCm39) N1269K probably damaging Het
Dync1h1 T C 12: 110,586,848 (GRCm39) V943A probably benign Het
Eml5 T A 12: 98,790,933 (GRCm39) K1322* probably null Het
Fgf23 A G 6: 127,055,117 (GRCm39) T76A probably benign Het
Fgf6 T C 6: 126,992,900 (GRCm39) probably null Het
Fkbp15 G A 4: 62,258,884 (GRCm39) T124I probably benign Het
Gm12185 A T 11: 48,806,167 (GRCm39) H341Q possibly damaging Het
Gm20647 A G 5: 72,487,143 (GRCm39) probably benign Het
Lrp2 G C 2: 69,313,901 (GRCm39) R2277G possibly damaging Het
Lrrc69 T C 4: 14,708,673 (GRCm39) T224A probably benign Het
Morc2b G T 17: 33,357,042 (GRCm39) Y243* probably null Het
Myo18b C G 5: 113,014,251 (GRCm39) D764H probably damaging Het
Naip6 T C 13: 100,435,794 (GRCm39) S910G possibly damaging Het
Nbeal1 T A 1: 60,261,422 (GRCm39) I21N possibly damaging Het
P3h2 A T 16: 25,799,903 (GRCm39) I430K probably benign Het
Pcdh9 A G 14: 94,124,544 (GRCm39) V542A probably damaging Het
Pkp3 T A 7: 140,662,569 (GRCm39) N60K probably damaging Het
Pold1 C A 7: 44,187,124 (GRCm39) G686C probably damaging Het
Prdm6 T A 18: 53,606,673 (GRCm39) L58Q probably damaging Het
Rab13 C A 3: 90,132,173 (GRCm39) R86S probably benign Het
Rad21l A C 2: 151,499,398 (GRCm39) L265V probably damaging Het
Rec8 G A 14: 55,859,935 (GRCm39) A228T probably damaging Het
Rgs12 C A 5: 35,177,667 (GRCm39) R76S probably damaging Het
Sfmbt1 A G 14: 30,537,141 (GRCm39) N670D possibly damaging Het
Slc17a7 A G 7: 44,824,175 (GRCm39) T464A possibly damaging Het
Srcap C A 7: 127,159,453 (GRCm39) probably benign Het
Srgap2 A T 1: 131,283,243 (GRCm39) probably null Het
Tenm1 C T X: 41,916,072 (GRCm39) G404E probably damaging Het
Thpo C A 16: 20,547,597 (GRCm39) probably benign Het
Tle4 A T 19: 14,572,952 (GRCm39) probably null Het
Tnfrsf14 T C 4: 155,008,949 (GRCm39) Q74R possibly damaging Het
Trav15-2-dv6-2 T G 14: 53,887,182 (GRCm39) V34G probably benign Het
Trbv13-1 C T 6: 41,093,313 (GRCm39) A82V probably benign Het
Trib1 C T 15: 59,523,487 (GRCm39) R174* probably null Het
Trpv3 G A 11: 73,176,844 (GRCm39) V408I probably benign Het
Tyk2 A T 9: 21,019,218 (GRCm39) V1068E probably damaging Het
Usp35 A G 7: 96,973,533 (GRCm39) S230P probably damaging Het
Utp25 T C 1: 192,811,810 (GRCm39) I46V probably null Het
Vav1 T A 17: 57,608,884 (GRCm39) D349E probably benign Het
Vcan T A 13: 89,805,655 (GRCm39) R114* probably null Het
Vmn1r25 T C 6: 57,955,557 (GRCm39) E244G probably benign Het
Vmn2r5 T C 3: 64,398,820 (GRCm39) T720A probably benign Het
Wdr72 T A 9: 74,059,923 (GRCm39) D444E probably benign Het
Zfhx3 T A 8: 109,674,053 (GRCm39) M1701K probably benign 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
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'- GCTGCAGACATGTTAAGTCCTC -3'
(R):5'- GGCCTGCTCAGATATTGTAGG -3'

Sequencing Primer
(F):5'- GCAGACATGTTAAGTCCTCTTAAAC -3'
(R):5'- CTGCTCAGATATTGTAGGCTCATAAG -3'
Posted On 2017-08-16