Incidental Mutation 'IGL02742:Clec2g'
ID305935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clec2g
Ensembl Gene ENSMUSG00000000248
Gene NameC-type lectin domain family 2, member g
Synonyms4632413B12Rik, Ocilrp1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL02742
Quality Score
Status
Chromosome6
Chromosomal Location128934381-128984707 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 128980261 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 61 (I61V)
Ref Sequence ENSEMBL: ENSMUSP00000144879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000254] [ENSMUST00000075789] [ENSMUST00000142388] [ENSMUST00000203405] [ENSMUST00000204259]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000254
AA Change: I112V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000254
Gene: ENSMUSG00000000248
AA Change: I112V

DomainStartEndE-ValueType
Pfam:Lectin_C 3 108 2.4e-6 PFAM
low complexity region 114 126 N/A INTRINSIC
CLECT 143 254 9.36e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000075789
AA Change: I50V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075192
Gene: ENSMUSG00000000248
AA Change: I50V

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
CLECT 81 192 9.36e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127246
Predicted Effect possibly damaging
Transcript: ENSMUST00000142388
AA Change: I50V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115140
Gene: ENSMUSG00000000248
AA Change: I50V

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
CLECT 81 192 9.36e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203405
AA Change: I55V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144788
Gene: ENSMUSG00000000248
AA Change: I55V

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
transmembrane domain 48 70 N/A INTRINSIC
CLECT 86 197 4.7e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204259
AA Change: I61V

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144879
Gene: ENSMUSG00000000248
AA Change: I61V

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
low complexity region 63 75 N/A INTRINSIC
CLECT 92 203 9.36e-25 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,095,625 T506A probably damaging Het
AI314180 A G 4: 58,840,757 V667A probably damaging Het
Ankib1 A C 5: 3,693,479 D845E probably benign Het
Atxn2 T C 5: 121,781,336 V369A possibly damaging Het
Ccdc50 T A 16: 27,406,784 probably benign Het
Col16a1 G A 4: 130,061,379 probably benign Het
Dapk2 A G 9: 66,231,814 Y139C probably damaging Het
Fnip1 T C 11: 54,493,351 L334P probably damaging Het
Igf1r A G 7: 68,189,991 E682G possibly damaging Het
Ints8 T C 4: 11,241,627 E272G possibly damaging Het
Jph2 G A 2: 163,375,779 P326S probably damaging Het
Krtap1-4 T C 11: 99,583,114 probably benign Het
Lrp5 A G 19: 3,604,022 I1135T probably damaging Het
Lrrk1 A G 7: 66,308,691 V320A probably benign Het
Myh6 A C 14: 54,953,924 I820S possibly damaging Het
Napg A T 18: 62,986,248 T110S probably damaging Het
Nova1 G A 12: 46,720,692 Q56* probably null Het
Phyhip A G 14: 70,461,927 probably null Het
Pkd2l2 C A 18: 34,416,917 S205* probably null Het
Ppp2r1a G T 17: 20,959,003 C101F probably benign Het
Serpinb3c G A 1: 107,273,142 R182* probably null Het
St18 A C 1: 6,802,316 probably benign Het
St6galnac4 C T 2: 32,597,084 R264C possibly damaging Het
Tmem168 T C 6: 13,603,262 Y35C probably benign Het
Tmem219 A G 7: 126,897,048 L74P probably damaging Het
Trpc4 T A 3: 54,299,246 N622K probably damaging Het
Trpm6 A C 19: 18,830,012 probably benign Het
Ttl C A 2: 129,066,293 F49L possibly damaging Het
Vmn1r123 A T 7: 21,163,043 I287F possibly damaging Het
Vmn2r97 T G 17: 18,929,170 I273M probably damaging Het
Wdr5 C A 2: 27,520,425 probably benign Het
Zcchc6 C T 13: 59,816,342 D250N probably damaging Het
Zfp37 C A 4: 62,192,311 C172F possibly damaging Het
Other mutations in Clec2g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Clec2g APN 6 128980181 splice site probably null
IGL00901:Clec2g APN 6 128948692 splice site probably benign
IGL01367:Clec2g APN 6 128948736 missense unknown
IGL01514:Clec2g APN 6 128948773 missense probably benign 0.02
R0069:Clec2g UTSW 6 128948753 missense probably benign 0.02
R0069:Clec2g UTSW 6 128980311 critical splice donor site probably null
R0368:Clec2g UTSW 6 128980261 missense possibly damaging 0.95
R1809:Clec2g UTSW 6 128980310 critical splice donor site probably null
R1813:Clec2g UTSW 6 128948697 missense unknown
R2866:Clec2g UTSW 6 128948756 missense probably benign
R4080:Clec2g UTSW 6 128981324 missense probably damaging 0.96
R4732:Clec2g UTSW 6 128981879 nonsense probably null
R4733:Clec2g UTSW 6 128981879 nonsense probably null
R4906:Clec2g UTSW 6 128979448 missense probably benign
R5014:Clec2g UTSW 6 128948802 missense probably benign 0.00
R5220:Clec2g UTSW 6 128981306 missense probably benign 0.00
R5342:Clec2g UTSW 6 128948751 missense probably benign 0.04
R6155:Clec2g UTSW 6 128980273 missense probably damaging 1.00
R6353:Clec2g UTSW 6 128982932 splice site probably null
R6372:Clec2g UTSW 6 128948763 missense probably benign 0.00
R7678:Clec2g UTSW 6 128979437 missense probably damaging 0.96
R7821:Clec2g UTSW 6 128948777 missense probably benign 0.00
R8252:Clec2g UTSW 6 128981372 missense probably benign 0.09
R8909:Clec2g UTSW 6 128981232 missense probably benign 0.09
Posted On2015-04-16