Incidental Mutation 'IGL00266:C1qtnf2'
ID4617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C1qtnf2
Ensembl Gene ENSMUSG00000046491
Gene NameC1q and tumor necrosis factor related protein 2
Synonyms1810033K05Rik, CTRP2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00266
Quality Score
Status
Chromosome11
Chromosomal Location43474276-43491525 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 43485999 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 66 (V66E)
Ref Sequence ENSEMBL: ENSMUSP00000133616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057679] [ENSMUST00000151912] [ENSMUST00000173002]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057679
AA Change: V66E

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000051652
Gene: ENSMUSG00000046491
AA Change: V66E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Collagen 46 104 1.2e-10 PFAM
Pfam:Collagen 90 151 2.1e-11 PFAM
C1Q 152 287 3.96e-46 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000151912
AA Change: V66E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133616
Gene: ENSMUSG00000046491
AA Change: V66E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Collagen 46 103 6.8e-11 PFAM
Pfam:Collagen 79 137 3.1e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000173002
AA Change: V96E

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134705
Gene: ENSMUSG00000046491
AA Change: V96E

DomainStartEndE-ValueType
low complexity region 45 58 N/A INTRINSIC
Pfam:Collagen 76 135 7.4e-11 PFAM
Pfam:Collagen 121 181 1.9e-11 PFAM
C1Q 182 317 3.96e-46 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in C1qtnf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03178:C1qtnf2 APN 11 43490989 missense probably damaging 0.98
PIT4305001:C1qtnf2 UTSW 11 43491195 missense probably damaging 1.00
R0226:C1qtnf2 UTSW 11 43490843 missense probably benign
R1412:C1qtnf2 UTSW 11 43491132 missense probably damaging 1.00
R1796:C1qtnf2 UTSW 11 43491287 missense probably damaging 1.00
R2145:C1qtnf2 UTSW 11 43490984 missense probably damaging 1.00
R2504:C1qtnf2 UTSW 11 43491156 missense probably damaging 1.00
R3829:C1qtnf2 UTSW 11 43491321 missense probably benign
R5106:C1qtnf2 UTSW 11 43486053 missense possibly damaging 0.71
R5547:C1qtnf2 UTSW 11 43490967 missense probably damaging 1.00
R5879:C1qtnf2 UTSW 11 43486008 missense probably damaging 0.99
R8138:C1qtnf2 UTSW 11 43486011 missense probably damaging 1.00
Posted On2012-04-20