Incidental Mutation 'R5906:Clec5a'
ID 460626
Institutional Source Beutler Lab
Gene Symbol Clec5a
Ensembl Gene ENSMUSG00000029915
Gene Name C-type lectin domain family 5, member a
Synonyms Ly100, myeloid DAP12-associating lectin-1, Clecsf5, MDL-1
MMRRC Submission 044103-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5906 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 40551832-40562739 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40558793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 98 (M98L)
Ref Sequence ENSEMBL: ENSMUSP00000121848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101491] [ENSMUST00000129948] [ENSMUST00000177178]
AlphaFold Q9R007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031975
Predicted Effect probably benign
Transcript: ENSMUST00000101491
AA Change: M73L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099030
Gene: ENSMUSG00000029915
AA Change: M73L

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
CLECT 48 161 3.83e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129948
AA Change: M98L

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000121848
Gene: ENSMUSG00000029915
AA Change: M98L

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
internal_repeat_1 29 51 5.12e-5 PROSPERO
CLECT 73 186 3.83e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177178
AA Change: M73L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135240
Gene: ENSMUSG00000029915
AA Change: M73L

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
CLECT 48 160 9.02e-18 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 92.4%
Validation Efficiency 95% (81/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to induced arthritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik C A 11: 58,182,260 (GRCm39) probably null Het
9130023H24Rik G A 7: 127,835,664 (GRCm39) P310S probably benign Het
Abcc10 G T 17: 46,627,485 (GRCm39) H652Q probably benign Het
Actl6b A G 5: 137,565,591 (GRCm39) I396V possibly damaging Het
Acvr1b T C 15: 101,091,772 (GRCm39) probably benign Het
Adamts18 A T 8: 114,436,251 (GRCm39) H989Q probably benign Het
Adamtsl4 T C 3: 95,588,094 (GRCm39) Y631C probably damaging Het
Angptl3 A G 4: 98,925,804 (GRCm39) T377A probably benign Het
Ankmy2 G A 12: 36,226,632 (GRCm39) V109M probably damaging Het
Anpep G A 7: 79,483,423 (GRCm39) A689V probably benign Het
Brwd1 A T 16: 95,859,938 (GRCm39) M350K probably damaging Het
Cacna1d C T 14: 29,818,917 (GRCm39) V1213I probably damaging Het
Capn1 A G 19: 6,061,451 (GRCm39) F156L possibly damaging Het
Catsperb C A 12: 101,476,721 (GRCm39) F408L probably damaging Het
Ccdc146 A T 5: 21,506,350 (GRCm39) L697Q possibly damaging Het
Cdc37l1 T A 19: 28,989,386 (GRCm39) V281E probably benign Het
Chia1 A T 3: 106,039,304 (GRCm39) T465S probably benign Het
Cidec A T 6: 113,405,282 (GRCm39) probably null Het
Clcnkb T C 4: 141,139,610 (GRCm39) T131A probably benign Het
Cnga1 A T 5: 72,768,201 (GRCm39) F162I probably benign Het
Cyp27b1 A T 10: 126,884,267 (GRCm39) I40F probably damaging Het
Edrf1 A G 7: 133,265,144 (GRCm39) S1027G probably benign Het
Entpd1 C A 19: 40,727,283 (GRCm39) A448E probably damaging Het
Espl1 T C 15: 102,205,286 (GRCm39) probably null Het
Etfdh T C 3: 79,511,422 (GRCm39) I520V probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gabra4 G A 5: 71,781,253 (GRCm39) P386L probably benign Het
Gckr G T 5: 31,463,922 (GRCm39) V281L probably damaging Het
Gfy T C 7: 44,827,167 (GRCm39) T310A probably benign Het
Gjc2 C A 11: 59,067,667 (GRCm39) V272L probably benign Het
Gm13441 G C 2: 31,777,511 (GRCm39) silent Het
H2-DMb2 T A 17: 34,367,582 (GRCm39) M1K probably null Het
Hipk3 T C 2: 104,302,153 (GRCm39) Y13C probably damaging Het
Kcnt1 A T 2: 25,784,536 (GRCm39) probably benign Het
Kcnt1 T C 2: 25,788,413 (GRCm39) F336S probably damaging Het
Klhdc7b A G 15: 89,271,359 (GRCm39) D747G probably benign Het
Krt78 T A 15: 101,857,030 (GRCm39) E359V probably damaging Het
Mast4 T C 13: 102,872,252 (GRCm39) D2195G probably benign Het
Matk C T 10: 81,096,753 (GRCm39) L188F probably damaging Het
Mcoln2 T C 3: 145,889,496 (GRCm39) I399T probably damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Nap1l1 A T 10: 111,326,891 (GRCm39) K151* probably null Het
Ncbp3 T A 11: 72,964,327 (GRCm39) S426T probably benign Het
Nisch T A 14: 30,893,985 (GRCm39) probably null Het
Or4k15b T C 14: 50,272,306 (GRCm39) T185A probably benign Het
Or5b113 T C 19: 13,342,369 (GRCm39) C126R probably damaging Het
Or8a1b A G 9: 37,623,101 (GRCm39) I158T probably benign Het
Or8b8 A G 9: 37,809,174 (GRCm39) H158R probably damaging Het
Peg3 T C 7: 6,720,854 (GRCm39) D17G probably damaging Het
Pkd1 G A 17: 24,791,894 (GRCm39) V1194M probably benign Het
Pkd1l2 A T 8: 117,756,387 (GRCm39) I1615N probably damaging Het
Pkd2 A T 5: 104,625,045 (GRCm39) probably null Het
Pkp4 T A 2: 59,135,420 (GRCm39) N97K possibly damaging Het
Prrx2 C T 2: 30,769,522 (GRCm39) R78C probably damaging Het
Pycr1 T A 11: 120,532,988 (GRCm39) I91F probably damaging Het
Rap1a T C 3: 105,645,081 (GRCm39) N87S possibly damaging Het
Sbk2 T G 7: 4,960,627 (GRCm39) Y181S probably damaging Het
Scart1 T A 7: 139,808,712 (GRCm39) D874E probably damaging Het
Sec16a A T 2: 26,328,843 (GRCm39) H1057Q possibly damaging Het
Sfswap G A 5: 129,619,107 (GRCm39) E486K probably benign Het
Shank3 T C 15: 89,433,119 (GRCm39) V1213A probably damaging Het
Slfn5 T A 11: 82,848,102 (GRCm39) I329K probably benign Het
Slit1 T A 19: 41,594,813 (GRCm39) N1186Y probably damaging Het
Ssbp3 A G 4: 106,867,018 (GRCm39) probably benign Het
Steap3 T A 1: 120,171,731 (GRCm39) I125F probably damaging Het
Synpr C A 14: 13,608,788 (GRCm38) probably benign Het
Tom1 T C 8: 75,776,886 (GRCm39) L69P probably damaging Het
Traf3ip3 T A 1: 192,880,314 (GRCm39) D5V possibly damaging Het
Vmn1r29 G A 6: 58,284,736 (GRCm39) S152N probably benign Het
Vmn1r68 T C 7: 10,261,550 (GRCm39) I183V probably benign Het
Wdr17 C G 8: 55,092,503 (GRCm39) V1094L probably benign Het
Wdr95 A G 5: 149,487,692 (GRCm39) I109V possibly damaging Het
Zfp39 T C 11: 58,793,717 (GRCm39) D7G probably benign Het
Zfp512 A T 5: 31,637,408 (GRCm39) Q443L probably damaging Het
Zfp974 T A 7: 27,610,230 (GRCm39) K498N possibly damaging Het
Other mutations in Clec5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Clec5a APN 6 40,559,196 (GRCm39) missense probably benign 0.01
IGL01680:Clec5a APN 6 40,561,314 (GRCm39) missense probably benign 0.01
IGL01701:Clec5a APN 6 40,559,160 (GRCm39) splice site probably benign
IGL02281:Clec5a APN 6 40,561,336 (GRCm39) missense probably benign 0.04
IGL02799:Clec5a UTSW 6 40,554,983 (GRCm39) missense probably damaging 1.00
R1435:Clec5a UTSW 6 40,561,358 (GRCm39) missense probably damaging 1.00
R1580:Clec5a UTSW 6 40,562,153 (GRCm39) missense probably benign 0.08
R1752:Clec5a UTSW 6 40,559,187 (GRCm39) missense probably damaging 1.00
R1898:Clec5a UTSW 6 40,558,870 (GRCm39) missense probably benign 0.03
R2022:Clec5a UTSW 6 40,562,128 (GRCm39) missense probably damaging 0.99
R2110:Clec5a UTSW 6 40,562,137 (GRCm39) missense probably damaging 0.96
R4915:Clec5a UTSW 6 40,562,165 (GRCm39) utr 5 prime probably benign
R5697:Clec5a UTSW 6 40,559,204 (GRCm39) missense probably benign 0.00
R7811:Clec5a UTSW 6 40,558,867 (GRCm39) missense probably damaging 1.00
R8113:Clec5a UTSW 6 40,556,361 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TGAACTTCCCAGCTAGGCAC -3'
(R):5'- GCAGACTAGAGTGATGGAATTTCTTC -3'

Sequencing Primer
(F):5'- AGCTAGGCACATCTTTACTCCTTAAC -3'
(R):5'- ATGTGCTCACACTCCAA -3'
Posted On 2017-02-28