Incidental Mutation 'R2085:Clec9a'
ID 230259
Institutional Source Beutler Lab
Gene Symbol Clec9a
Ensembl Gene ENSMUSG00000046080
Gene Name C-type lectin domain family 9, member a
Synonyms DNGR-1, 9830005G06Rik
MMRRC Submission 040090-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2085 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 129385825-129401726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129387274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 43 (V43A)
Ref Sequence ENSEMBL: ENSMUSP00000144990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032262] [ENSMUST00000058352] [ENSMUST00000088075] [ENSMUST00000164513] [ENSMUST00000204860]
AlphaFold Q8BRU4
Predicted Effect probably benign
Transcript: ENSMUST00000032262
SMART Domains Protein: ENSMUSP00000032262
Gene: ENSMUSG00000030159

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
CLECT 102 217 1.59e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000058352
AA Change: V43A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000056625
Gene: ENSMUSG00000046080
AA Change: V43A

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
CLECT 137 256 8.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088075
AA Change: V43A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000085394
Gene: ENSMUSG00000046080
AA Change: V43A

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
CLECT 111 230 8.6e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133061
Predicted Effect probably benign
Transcript: ENSMUST00000164513
SMART Domains Protein: ENSMUSP00000128622
Gene: ENSMUSG00000046080

DomainStartEndE-ValueType
CLECT 110 229 8.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204860
AA Change: V43A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000144990
Gene: ENSMUSG00000046080
AA Change: V43A

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Homozygous null mice have CD8alpha+ dendritic cells that are defective in cross-presentation of dead-cell associated antigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik G T 11: 69,791,198 (GRCm39) T127K possibly damaging Het
A2m T G 6: 121,653,918 (GRCm39) I1417S probably damaging Het
Acad10 A G 5: 121,787,523 (GRCm39) I142T possibly damaging Het
Adprm T A 11: 66,932,678 (GRCm39) D77V probably damaging Het
Apob C T 12: 8,062,240 (GRCm39) T3574I probably damaging Het
Bahcc1 A G 11: 120,178,908 (GRCm39) K2489R probably damaging Het
Bub1b A G 2: 118,452,676 (GRCm39) E443G possibly damaging Het
Cd9 A T 6: 125,440,734 (GRCm39) probably null Het
Cgnl1 G A 9: 71,538,160 (GRCm39) T1194M probably damaging Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Dpep3 A G 8: 106,701,346 (GRCm39) V401A probably damaging Het
Duox2 G T 2: 122,111,448 (GRCm39) H1417N probably damaging Het
Efhb C T 17: 53,733,937 (GRCm39) probably null Het
F2r T C 13: 95,741,418 (GRCm39) N39S probably benign Het
Fcamr T C 1: 130,739,335 (GRCm39) F212L probably damaging Het
Galt G A 4: 41,758,162 (GRCm39) R309Q probably damaging Het
Gas2l2 C A 11: 83,318,209 (GRCm39) A167S probably benign Het
Hecw1 A T 13: 14,438,672 (GRCm39) F904I possibly damaging Het
Herc2 C A 7: 55,862,713 (GRCm39) H4127Q possibly damaging Het
Hipk1 T C 3: 103,657,670 (GRCm39) T805A probably benign Het
Hivep1 A G 13: 42,337,226 (GRCm39) E2435G probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep2 C A 10: 14,015,273 (GRCm39) C1813* probably null Het
Hyal4 C T 6: 24,755,749 (GRCm39) probably benign Het
Inpp4b A G 8: 82,678,903 (GRCm39) Y311C probably damaging Het
Itih4 A G 14: 30,614,280 (GRCm39) Y410C possibly damaging Het
Lama2 A T 10: 27,080,837 (GRCm39) C995* probably null Het
Lingo4 C A 3: 94,309,552 (GRCm39) D163E probably damaging Het
Malt1 A G 18: 65,606,218 (GRCm39) D642G probably damaging Het
Mbd4 T A 6: 115,825,918 (GRCm39) M358L probably benign Het
Mbd5 T A 2: 49,169,323 (GRCm39) F1498Y possibly damaging Het
Me1 T C 9: 86,495,607 (GRCm39) Q280R probably damaging Het
Megf9 T C 4: 70,367,004 (GRCm39) H326R probably damaging Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Or13p10 T C 4: 118,523,301 (GRCm39) S196P probably damaging Het
Or1e1 T C 11: 73,245,247 (GRCm39) S223P possibly damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or5h18 C T 16: 58,848,232 (GRCm39) V13I probably benign Het
Or8b1c A G 9: 38,384,223 (GRCm39) Y60C probably damaging Het
Polr2j T C 5: 136,145,625 (GRCm39) F7L probably damaging Het
Ppp1r16a T A 15: 76,577,796 (GRCm39) D303E probably damaging Het
Prickle2 T C 6: 92,353,345 (GRCm39) E763G probably damaging Het
Rdh11 T C 12: 79,229,556 (GRCm39) Y239C possibly damaging Het
Sdhaf3 A G 6: 6,956,048 (GRCm39) R8G probably benign Het
Sgk2 T C 2: 162,854,890 (GRCm39) S305P probably damaging Het
Sptbn2 A G 19: 4,788,587 (GRCm39) S1189G probably benign Het
Stab2 A G 10: 86,790,023 (GRCm39) L581P probably damaging Het
Tifab T C 13: 56,324,110 (GRCm39) Q111R probably damaging Het
Ubr3 C T 2: 69,784,108 (GRCm39) R775C probably damaging Het
Usp17lb T A 7: 104,489,622 (GRCm39) Q434L possibly damaging Het
Wdr46 G T 17: 34,160,425 (GRCm39) E135* probably null Het
Zfp318 T A 17: 46,720,590 (GRCm39) probably null Het
Zfp874a T A 13: 67,590,967 (GRCm39) H239L probably damaging Het
Zscan29 A T 2: 121,000,427 (GRCm39) L60* probably null Het
Other mutations in Clec9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01676:Clec9a APN 6 129,398,118 (GRCm39) missense probably benign 0.35
PIT4468001:Clec9a UTSW 6 129,396,597 (GRCm39) critical splice donor site probably null
R0408:Clec9a UTSW 6 129,396,532 (GRCm39) missense possibly damaging 0.87
R1131:Clec9a UTSW 6 129,387,278 (GRCm39) missense probably damaging 1.00
R1888:Clec9a UTSW 6 129,387,249 (GRCm39) missense probably benign
R1888:Clec9a UTSW 6 129,387,249 (GRCm39) missense probably benign
R2095:Clec9a UTSW 6 129,393,321 (GRCm39) missense possibly damaging 0.84
R3418:Clec9a UTSW 6 129,398,001 (GRCm39) intron probably benign
R4731:Clec9a UTSW 6 129,393,299 (GRCm39) missense probably benign 0.13
R6547:Clec9a UTSW 6 129,393,339 (GRCm39) missense probably benign 0.01
R7728:Clec9a UTSW 6 129,392,198 (GRCm39) missense possibly damaging 0.93
R8078:Clec9a UTSW 6 129,385,996 (GRCm39) missense probably benign 0.44
R8349:Clec9a UTSW 6 129,387,292 (GRCm39) missense probably damaging 0.96
R8449:Clec9a UTSW 6 129,387,292 (GRCm39) missense probably damaging 0.96
R9050:Clec9a UTSW 6 129,396,561 (GRCm39) missense possibly damaging 0.86
R9476:Clec9a UTSW 6 129,398,023 (GRCm39) missense possibly damaging 0.92
R9510:Clec9a UTSW 6 129,398,023 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TTTCCAAGTCAGATATAGCCCATGC -3'
(R):5'- CCATTTACGTGTGCTTACATAGATC -3'

Sequencing Primer
(F):5'- GCCCATGCTATAAGGTTCATCTGAG -3'
(R):5'- CCCGTGTTGTTAACAGGTAA -3'
Posted On 2014-09-18