Incidental Mutation 'R0387:Ly75'
ID 31322
Institutional Source Beutler Lab
Gene Symbol Ly75
Ensembl Gene ENSMUSG00000026980
Gene Name lymphocyte antigen 75
Synonyms DEC-205, CD205
MMRRC Submission 038593-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0387 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 60292103-60383303 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60306404 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1493 (Y1493F)
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: Y1493F

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: Y1493F

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: Y1493F

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: Y1493F

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 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.7%
  • 10x: 94.2%
  • 20x: 85.0%
Validation Efficiency 99% (77/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 120,332,852 (GRCm38) probably null Het
Abcc9 T A 6: 142,639,504 (GRCm38) K825* probably null Het
Afp T C 5: 90,497,291 (GRCm38) C189R probably damaging Het
Akap9 T C 5: 3,951,678 (GRCm38) probably benign Het
Alpk3 A T 7: 81,104,227 (GRCm38) T1652S possibly damaging Het
Atg4b C A 1: 93,786,556 (GRCm38) Q354K probably benign Het
Atxn2 T C 5: 121,802,143 (GRCm38) S388P possibly damaging Het
C2cd3 T A 7: 100,422,507 (GRCm38) probably benign Het
Cacna2d2 C A 9: 107,513,881 (GRCm38) T403K probably damaging Het
Cap2 C T 13: 46,560,516 (GRCm38) H79Y probably damaging Het
Car10 G T 11: 93,583,021 (GRCm38) probably null Het
Ccno T C 13: 112,989,867 (GRCm38) L290P probably damaging Het
Cfap69 T C 5: 5,589,303 (GRCm38) K624E probably damaging Het
Ctnna3 A G 10: 64,586,130 (GRCm38) M568V probably benign Het
Cyp1b1 C A 17: 79,713,774 (GRCm38) V180L probably benign Het
Cyp2u1 G T 3: 131,295,552 (GRCm38) probably null Het
Dcp1a T C 14: 30,519,679 (GRCm38) probably null Het
Dnm1 C T 2: 32,320,581 (GRCm38) G1S possibly damaging Het
Dnmt1 A G 9: 20,918,213 (GRCm38) L698P probably damaging Het
Dock10 C A 1: 80,540,276 (GRCm38) C1327F probably damaging Het
Dph3b-ps A G 13: 106,546,855 (GRCm38) noncoding transcript Het
Dpyd G A 3: 119,427,226 (GRCm38) D949N probably benign Het
Dync2li1 A G 17: 84,655,340 (GRCm38) K345E possibly damaging Het
Eml2 T A 7: 19,182,259 (GRCm38) probably null Het
Exoc7 A G 11: 116,294,401 (GRCm38) probably benign Het
Faah A T 4: 116,005,692 (GRCm38) C113* probably null Het
Fcf1 T A 12: 84,973,002 (GRCm38) D16E probably benign Het
Fcgbp T C 7: 28,091,454 (GRCm38) probably benign Het
Ghr A G 15: 3,319,891 (GRCm38) S602P probably benign Het
Gm10334 A G 6: 41,443,369 (GRCm38) I141T possibly damaging Het
Gm5114 T C 7: 39,408,809 (GRCm38) D462G probably benign Het
Gm8186 T A 17: 26,099,026 (GRCm38) S66C probably damaging Het
Gorab C T 1: 163,396,834 (GRCm38) V133M probably benign Het
Gria1 G A 11: 57,309,884 (GRCm38) probably null Het
Grik1 T A 16: 88,034,350 (GRCm38) probably benign Het
Gtf3c1 A G 7: 125,681,104 (GRCm38) L378P probably damaging Het
Htr5b A T 1: 121,527,546 (GRCm38) V215D probably damaging Het
Htra1 A G 7: 130,979,478 (GRCm38) T319A probably damaging Het
Idh2 C T 7: 80,098,257 (GRCm38) A232T probably damaging Het
Klrb1a A C 6: 128,609,734 (GRCm38) H189Q possibly damaging Het
Lhfp A G 3: 53,043,328 (GRCm38) T8A probably benign Het
Mfsd5 T C 15: 102,281,096 (GRCm38) I301T possibly damaging Het
Mlkl C T 8: 111,333,350 (GRCm38) E135K probably damaging Het
Mrgprx2 A C 7: 48,499,160 (GRCm38) M1R probably null Het
Mroh2a G C 1: 88,246,042 (GRCm38) A871P probably damaging Het
Mtbp A G 15: 55,611,029 (GRCm38) I280V possibly damaging Het
Myo5c A T 9: 75,285,021 (GRCm38) probably benign Het
Nos3 A G 5: 24,367,585 (GRCm38) K174R probably damaging Het
Oas2 A T 5: 120,745,672 (GRCm38) probably benign Het
Olfr889 T A 9: 38,115,770 (GRCm38) probably null Het
Pi4kb G C 3: 94,984,740 (GRCm38) E256Q probably benign Het
Pik3c2a T A 7: 116,373,744 (GRCm38) I739F probably damaging Het
Pla2r1 T A 2: 60,432,601 (GRCm38) K1031N probably benign Het
Plk4 A T 3: 40,812,884 (GRCm38) probably benign Het
Polq G T 16: 37,089,317 (GRCm38) E2354D probably damaging Het
Polq T C 16: 37,029,430 (GRCm38) C349R probably damaging Het
Prss22 A G 17: 23,993,929 (GRCm38) L278P probably damaging Het
Ptprk G A 10: 28,354,629 (GRCm38) V239I possibly damaging Het
Raph1 T G 1: 60,510,496 (GRCm38) probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Ripor3 C T 2: 167,983,772 (GRCm38) W755* probably null Het
Rnd3 G T 2: 51,148,231 (GRCm38) D77E probably damaging Het
Ryr1 T C 7: 29,083,367 (GRCm38) probably benign Het
Serpinb1a C T 13: 32,848,738 (GRCm38) V63I probably benign Het
Six1 T G 12: 73,046,041 (GRCm38) Y129S probably damaging Het
Spata31d1a G A 13: 59,703,501 (GRCm38) T271I probably damaging Het
Stab1 T C 14: 31,148,101 (GRCm38) D1387G probably benign Het
Stra6 T A 9: 58,153,183 (GRCm38) M625K probably benign Het
Syne1 T C 10: 5,351,029 (GRCm38) S900G probably benign Het
Tdpoz4 A C 3: 93,796,700 (GRCm38) K101N probably benign Het
Tigd2 T C 6: 59,211,158 (GRCm38) Y337H probably benign Het
Tnxb A G 17: 34,683,574 (GRCm38) I1134V probably benign Het
Tspyl5 A G 15: 33,686,935 (GRCm38) I288T probably damaging Het
Ulk1 A G 5: 110,788,797 (GRCm38) V61A possibly damaging Het
Xxylt1 A G 16: 30,957,376 (GRCm38) Y381H probably benign Het
Zcchc9 T A 13: 91,800,947 (GRCm38) M12L probably benign Het
Zfp106 T C 2: 120,528,472 (GRCm38) probably null Het
Zfp74 T A 7: 29,934,754 (GRCm38) T510S probably benign Het
Zfp808 A G 13: 62,169,478 (GRCm38) T14A probably damaging Het
Other mutations in Ly75
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Ly75 APN 2 60,376,077 (GRCm38) missense probably damaging 1.00
IGL01072:Ly75 APN 2 60,354,496 (GRCm38) missense probably damaging 1.00
IGL01409:Ly75 APN 2 60,321,692 (GRCm38) splice site probably null
IGL01432:Ly75 APN 2 60,376,007 (GRCm38) missense probably damaging 1.00
IGL01626:Ly75 APN 2 60,301,015 (GRCm38) missense probably benign 0.13
IGL01690:Ly75 APN 2 60,338,311 (GRCm38) missense probably damaging 1.00
IGL01862:Ly75 APN 2 60,299,172 (GRCm38) missense probably damaging 1.00
IGL01982:Ly75 APN 2 60,311,764 (GRCm38) missense probably damaging 1.00
IGL02075:Ly75 APN 2 60,352,356 (GRCm38) missense probably damaging 0.99
IGL02338:Ly75 APN 2 60,354,452 (GRCm38) missense probably benign 0.04
IGL02364:Ly75 APN 2 60,358,507 (GRCm38) missense probably damaging 1.00
IGL02456:Ly75 APN 2 60,293,781 (GRCm38) missense probably benign 0.09
IGL02474:Ly75 APN 2 60,383,182 (GRCm38) missense probably null 1.00
IGL02608:Ly75 APN 2 60,321,900 (GRCm38) missense probably benign 0.41
IGL02986:Ly75 APN 2 60,308,191 (GRCm38) missense probably damaging 1.00
IGL03015:Ly75 APN 2 60,376,160 (GRCm38) missense probably damaging 1.00
IGL03049:Ly75 APN 2 60,352,070 (GRCm38) missense probably damaging 0.99
euphues UTSW 2 60,299,045 (GRCm38) critical splice donor site probably null
four_score UTSW 2 60,311,771 (GRCm38) missense possibly damaging 0.75
lyly UTSW 2 60,327,873 (GRCm38) missense possibly damaging 0.49
Witty UTSW 2 60,354,500 (GRCm38) missense probably damaging 1.00
D605:Ly75 UTSW 2 60,352,352 (GRCm38) critical splice donor site probably null
R0046:Ly75 UTSW 2 60,339,457 (GRCm38) intron probably benign
R0055:Ly75 UTSW 2 60,321,918 (GRCm38) missense probably benign 0.01
R0055:Ly75 UTSW 2 60,321,918 (GRCm38) missense probably benign 0.01
R0071:Ly75 UTSW 2 60,321,819 (GRCm38) missense probably benign 0.01
R0071:Ly75 UTSW 2 60,321,819 (GRCm38) missense probably benign 0.01
R0285:Ly75 UTSW 2 60,318,319 (GRCm38) missense probably damaging 1.00
R0492:Ly75 UTSW 2 60,308,276 (GRCm38) missense probably damaging 1.00
R0688:Ly75 UTSW 2 60,316,221 (GRCm38) missense probably benign 0.41
R1367:Ly75 UTSW 2 60,293,758 (GRCm38) splice site probably null
R1463:Ly75 UTSW 2 60,368,757 (GRCm38) critical splice donor site probably null
R1581:Ly75 UTSW 2 60,327,893 (GRCm38) missense probably damaging 1.00
R1663:Ly75 UTSW 2 60,314,234 (GRCm38) missense probably damaging 1.00
R1818:Ly75 UTSW 2 60,311,777 (GRCm38) missense probably damaging 1.00
R1881:Ly75 UTSW 2 60,349,940 (GRCm38) missense probably benign 0.00
R2244:Ly75 UTSW 2 60,349,913 (GRCm38) missense probably benign 0.01
R2905:Ly75 UTSW 2 60,334,554 (GRCm38) missense probably benign 0.00
R3967:Ly75 UTSW 2 60,327,873 (GRCm38) missense possibly damaging 0.49
R3968:Ly75 UTSW 2 60,327,873 (GRCm38) missense possibly damaging 0.49
R4039:Ly75 UTSW 2 60,352,995 (GRCm38) missense probably damaging 1.00
R4406:Ly75 UTSW 2 60,354,550 (GRCm38) missense probably damaging 1.00
R4526:Ly75 UTSW 2 60,330,773 (GRCm38) missense probably benign 0.09
R4647:Ly75 UTSW 2 60,308,278 (GRCm38) missense probably damaging 1.00
R4795:Ly75 UTSW 2 60,349,940 (GRCm38) missense probably benign 0.00
R4796:Ly75 UTSW 2 60,349,940 (GRCm38) missense probably benign 0.00
R4962:Ly75 UTSW 2 60,352,125 (GRCm38) missense probably damaging 1.00
R4979:Ly75 UTSW 2 60,375,894 (GRCm38) missense probably damaging 1.00
R5072:Ly75 UTSW 2 60,375,963 (GRCm38) missense probably damaging 1.00
R5288:Ly75 UTSW 2 60,303,641 (GRCm38) missense probably damaging 1.00
R5373:Ly75 UTSW 2 60,311,771 (GRCm38) missense possibly damaging 0.75
R5374:Ly75 UTSW 2 60,311,771 (GRCm38) missense possibly damaging 0.75
R5384:Ly75 UTSW 2 60,334,487 (GRCm38) nonsense probably null
R5385:Ly75 UTSW 2 60,303,641 (GRCm38) missense probably damaging 1.00
R5395:Ly75 UTSW 2 60,365,111 (GRCm38) missense probably benign 0.41
R5531:Ly75 UTSW 2 60,365,145 (GRCm38) missense probably damaging 0.98
R5662:Ly75 UTSW 2 60,352,381 (GRCm38) missense probably damaging 1.00
R5667:Ly75 UTSW 2 60,308,311 (GRCm38) missense probably damaging 1.00
R5668:Ly75 UTSW 2 60,354,500 (GRCm38) missense probably damaging 1.00
R5671:Ly75 UTSW 2 60,308,311 (GRCm38) missense probably damaging 1.00
R5677:Ly75 UTSW 2 60,299,082 (GRCm38) missense probably benign 0.00
R5764:Ly75 UTSW 2 60,318,439 (GRCm38) missense probably benign
R5896:Ly75 UTSW 2 60,383,146 (GRCm38) missense probably benign
R6025:Ly75 UTSW 2 60,375,962 (GRCm38) missense probably damaging 1.00
R6113:Ly75 UTSW 2 60,368,873 (GRCm38) missense probably benign 0.04
R6448:Ly75 UTSW 2 60,299,045 (GRCm38) critical splice donor site probably null
R6601:Ly75 UTSW 2 60,318,376 (GRCm38) missense probably benign 0.11
R6745:Ly75 UTSW 2 60,308,179 (GRCm38) missense probably damaging 1.00
R6955:Ly75 UTSW 2 60,327,873 (GRCm38) missense possibly damaging 0.49
R6960:Ly75 UTSW 2 60,306,405 (GRCm38) missense probably benign
R7100:Ly75 UTSW 2 60,306,434 (GRCm38) missense probably benign
R7110:Ly75 UTSW 2 60,376,184 (GRCm38) missense probably benign 0.31
R7203:Ly75 UTSW 2 60,323,852 (GRCm38) nonsense probably null
R7291:Ly75 UTSW 2 60,329,993 (GRCm38) missense probably damaging 0.98
R7308:Ly75 UTSW 2 60,334,515 (GRCm38) missense probably benign 0.04
R7447:Ly75 UTSW 2 60,334,474 (GRCm38) nonsense probably null
R7512:Ly75 UTSW 2 60,334,563 (GRCm38) missense probably damaging 1.00
R7595:Ly75 UTSW 2 60,293,827 (GRCm38) missense probably benign 0.01
R7976:Ly75 UTSW 2 60,365,088 (GRCm38) missense probably damaging 1.00
R8005:Ly75 UTSW 2 60,332,934 (GRCm38) missense probably damaging 1.00
R8171:Ly75 UTSW 2 60,314,228 (GRCm38) missense possibly damaging 0.51
R8392:Ly75 UTSW 2 60,349,940 (GRCm38) missense probably benign 0.00
R8705:Ly75 UTSW 2 60,318,385 (GRCm38) missense probably damaging 0.98
R8714:Ly75 UTSW 2 60,334,485 (GRCm38) missense probably damaging 1.00
R8798:Ly75 UTSW 2 60,323,926 (GRCm38) missense probably benign 0.32
R8799:Ly75 UTSW 2 60,348,441 (GRCm38) missense probably damaging 1.00
R8834:Ly75 UTSW 2 60,331,089 (GRCm38) missense probably benign
R8990:Ly75 UTSW 2 60,358,559 (GRCm38) missense probably benign 0.10
R9015:Ly75 UTSW 2 60,316,098 (GRCm38) missense probably benign
R9547:Ly75 UTSW 2 60,330,725 (GRCm38) critical splice donor site probably null
R9628:Ly75 UTSW 2 60,327,941 (GRCm38) missense probably damaging 1.00
R9659:Ly75 UTSW 2 60,338,321 (GRCm38) missense probably damaging 1.00
R9660:Ly75 UTSW 2 60,323,840 (GRCm38) missense probably damaging 1.00
R9747:Ly75 UTSW 2 60,306,328 (GRCm38) critical splice donor site probably null
X0025:Ly75 UTSW 2 60,354,475 (GRCm38) missense probably damaging 1.00
Z1177:Ly75 UTSW 2 60,352,133 (GRCm38) missense possibly damaging 0.65
Z1177:Ly75 UTSW 2 60,350,004 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GATGATACCACTTAGGGAACGCCAC -3'
(R):5'- AGGTCATGAGCAGTCCCTTCCTAC -3'

Sequencing Primer
(F):5'- caagaaggcagaggcagg -3'
(R):5'- GCGAATCGAGTTTCGAATGG -3'
Posted On 2013-04-24