Incidental Mutation 'R4979:Ly75'
ID 384650
Institutional Source Beutler Lab
Gene Symbol Ly75
Ensembl Gene ENSMUSG00000026980
Gene Name lymphocyte antigen 75
Synonyms DEC-205, CD205
MMRRC Submission 042574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4979 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 60292103-60383303 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 60375894 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 144 (G144S)
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: G144S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: G144S

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 possibly damaging
Transcript: ENSMUST00000112533
AA Change: G144S

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: G144S

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: ENSMUST00000151984
Meta Mutation Damage Score 0.1368 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 99% (79/80)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,001,811 (GRCm38) E381K probably damaging Het
Abca1 T C 4: 53,085,092 (GRCm38) probably null Het
Abca7 C T 10: 80,004,783 (GRCm38) Q870* probably null Het
Ambp C T 4: 63,152,651 (GRCm38) V64M probably benign Het
Ank1 T C 8: 23,132,196 (GRCm38) V1542A probably damaging Het
Anln T C 9: 22,376,501 (GRCm38) Y168C probably benign Het
Apoa4 T A 9: 46,241,505 (GRCm38) N29K probably benign Het
Arfgef1 T C 1: 10,213,109 (GRCm38) T192A probably damaging Het
Atad2b G T 12: 5,034,513 (GRCm38) D1420Y probably damaging Het
Baiap3 A G 17: 25,246,362 (GRCm38) W648R possibly damaging Het
Bank1 A G 3: 136,254,901 (GRCm38) L198P probably damaging Het
Bicd2 A G 13: 49,379,464 (GRCm38) K509E possibly damaging Het
Cacna1e T C 1: 154,413,993 (GRCm38) D1821G probably damaging Het
Ccdc80 G A 16: 45,116,287 (GRCm38) V692M possibly damaging Het
Ccdc88a C T 11: 29,482,133 (GRCm38) Q308* probably null Het
Ccl8 T C 11: 82,116,147 (GRCm38) V62A probably damaging Het
Clspn C A 4: 126,578,386 (GRCm38) P951Q probably damaging Het
Cngb1 T A 8: 95,259,157 (GRCm38) I858F probably damaging Het
Cspp1 T A 1: 10,126,463 (GRCm38) N900K probably damaging Het
Ctc1 C T 11: 69,033,502 (GRCm38) A960V probably damaging Het
Ctnnd2 A G 15: 31,009,075 (GRCm38) E1106G probably damaging Het
Dido1 C T 2: 180,660,813 (GRCm38) R1766H probably damaging Het
Dipk1a A T 5: 107,909,534 (GRCm38) L386* probably null Het
Dnajc13 G T 9: 104,186,723 (GRCm38) N1341K probably damaging Het
Dnase1l1 C T X: 74,277,038 (GRCm38) probably null Homo
E2f8 G A 7: 48,875,170 (GRCm38) probably benign Het
Entpd8 A G 2: 25,082,955 (GRCm38) D91G possibly damaging Het
Fars2 A G 13: 36,204,581 (GRCm38) R18G possibly damaging Het
Fcgbp A G 7: 28,117,570 (GRCm38) S2486G probably benign Het
Fibin C T 2: 110,362,618 (GRCm38) D60N possibly damaging Het
Fpgs A G 2: 32,687,367 (GRCm38) probably benign Het
Galnt15 A G 14: 32,043,290 (GRCm38) D303G probably damaging Het
Gli3 C A 13: 15,724,464 (GRCm38) T812K possibly damaging Het
Gpbar1 G C 1: 74,279,245 (GRCm38) A216P probably benign Het
Grin2d A G 7: 45,857,933 (GRCm38) I448T probably benign Het
Il21 C A 3: 37,232,504 (GRCm38) S21I probably damaging Het
Iqce G T 5: 140,691,621 (GRCm38) D148E probably damaging Het
Iqcg T A 16: 33,019,514 (GRCm38) E354V probably damaging Het
Iws1 T C 18: 32,093,267 (GRCm38) probably benign Het
Marco C A 1: 120,494,225 (GRCm38) M83I probably benign Het
Mettl6 A T 14: 31,479,795 (GRCm38) L185H probably damaging Het
Mppe1 C T 18: 67,229,702 (GRCm38) G154D probably damaging Het
Mrpl42 T C 10: 95,490,375 (GRCm38) E85G probably benign Het
Neb A G 2: 52,189,909 (GRCm38) V5518A probably damaging Het
Or12d13 A T 17: 37,336,868 (GRCm38) F121L probably benign Het
Or52p1 T A 7: 104,618,605 (GRCm38) F317I probably null Het
Or5b105 A T 19: 13,102,689 (GRCm38) I199N probably damaging Het
Or7a42 T A 10: 78,955,932 (GRCm38) C242* probably null Het
Or7d10 G T 9: 19,920,359 (GRCm38) S50I probably benign Het
Perm1 A G 4: 156,217,577 (GRCm38) T193A probably benign Het
Prkd2 T A 7: 16,848,727 (GRCm38) C172S probably damaging Het
Prr23a3 T A 9: 98,865,378 (GRCm38) D128E possibly damaging Het
Prss28 A G 17: 25,309,737 (GRCm38) Y51C probably damaging Het
Psmb1 A T 17: 15,476,189 (GRCm38) M85K probably benign Het
Rae1 T A 2: 173,012,608 (GRCm38) probably benign Het
Rasal1 A G 5: 120,678,676 (GRCm38) D759G probably benign Het
Rcvrn G A 11: 67,695,420 (GRCm38) G2R probably damaging Het
Robo3 C T 9: 37,423,344 (GRCm38) A597T probably damaging Het
Rsf1 GCG GCGACGGCGCCG 7: 97,579,907 (GRCm38) probably benign Homo
Sdcbp T A 4: 6,378,980 (GRCm38) Y22* probably null Het
Sin3a T C 9: 57,118,076 (GRCm38) F1069L probably damaging Het
Slitrk3 C T 3: 73,049,796 (GRCm38) V548I possibly damaging Het
Tbc1d22a A G 15: 86,391,086 (GRCm38) H403R probably damaging Het
Tbr1 G T 2: 61,805,249 (GRCm38) probably null Het
Tiam2 T A 17: 3,505,710 (GRCm38) D65E probably damaging Het
Tpcn2 A G 7: 145,260,096 (GRCm38) S488P probably benign Het
Trav9-2 T C 14: 53,591,238 (GRCm38) S22P probably damaging Het
Trim34a T A 7: 104,247,862 (GRCm38) N44K probably benign Het
Unc79 C G 12: 103,112,432 (GRCm38) P1619A probably benign Het
Usp22 A T 11: 61,157,216 (GRCm38) V426E probably damaging Het
Vhl A T 6: 113,624,198 (GRCm38) M20L unknown Het
Vmn1r215 G A 13: 23,075,894 (GRCm38) A35T probably benign Het
Vmn1r222 G A 13: 23,232,432 (GRCm38) L204F possibly damaging Het
Zfp871 A T 17: 32,775,855 (GRCm38) H115Q probably damaging Het
Zpr1 T A 9: 46,278,342 (GRCm38) F340L probably benign 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
R0387:Ly75 UTSW 2 60,306,404 (GRCm38) missense probably benign 0.20
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
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'- AAACTGAGTTGTGCGTGTTC -3'
(R):5'- TGCCTCGGCCTCGATATTAC -3'

Sequencing Primer
(F):5'- GTGTGTGCAAAACCTTCAGC -3'
(R):5'- TCGGCCTCGATATTACCAAAG -3'
Posted On 2016-05-10