Incidental Mutation 'IGL03178:C1qtnf2'
ID 412098
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C1qtnf2
Ensembl Gene ENSMUSG00000046491
Gene Name C1q and tumor necrosis factor related protein 2
Synonyms CTRP2, 1810033K05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03178
Quality Score
Status
Chromosome 11
Chromosomal Location 43365103-43382352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 43381816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 179 (D179E)
Ref Sequence ENSEMBL: ENSMUSP00000051652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057679] [ENSMUST00000151912] [ENSMUST00000173002]
AlphaFold Q9D8U4
Predicted Effect probably damaging
Transcript: ENSMUST00000057679
AA Change: D179E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051652
Gene: ENSMUSG00000046491
AA Change: D179E

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 probably benign
Transcript: ENSMUST00000151912
SMART Domains Protein: ENSMUSP00000133616
Gene: ENSMUSG00000046491

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 probably benign
Transcript: ENSMUST00000173002
AA Change: D209E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134705
Gene: ENSMUSG00000046491
AA Change: D209E

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 this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 A G 5: 34,771,589 (GRCm39) probably null Het
Afg2a T C 3: 37,632,932 (GRCm39) L846P probably damaging Het
Alpk1 A T 3: 127,473,870 (GRCm39) L711* probably null Het
Arfgef3 A T 10: 18,488,973 (GRCm39) W1291R probably damaging Het
Arhgef10l A G 4: 140,271,739 (GRCm39) V545A possibly damaging Het
Best3 A G 10: 116,824,684 (GRCm39) Y50C probably damaging Het
Cdc40 A T 10: 40,723,985 (GRCm39) S268T probably benign Het
Ces1a C T 8: 93,747,517 (GRCm39) G505R probably damaging Het
Cpd A T 11: 76,696,877 (GRCm39) N683K probably benign Het
D430041D05Rik A T 2: 104,051,556 (GRCm39) I767N probably damaging Het
Diras1 G T 10: 80,858,211 (GRCm39) F13L possibly damaging Het
Dnah7c A G 1: 46,506,525 (GRCm39) N201D probably benign Het
Dpy19l3 A T 7: 35,429,154 (GRCm39) Y9* probably null Het
Ect2 T A 3: 27,203,009 (GRCm39) I79L probably benign Het
Eif2b4 A T 5: 31,344,997 (GRCm39) I550N probably damaging Het
Enpp2 T A 15: 54,729,402 (GRCm39) M476L probably benign Het
Gm20425 A G 9: 103,087,751 (GRCm39) Y654H probably damaging Het
Gm5884 T C 6: 128,622,690 (GRCm39) noncoding transcript Het
Gtf3c6 A T 10: 40,125,718 (GRCm39) D166E probably benign Het
Gucy2c A T 6: 136,706,237 (GRCm39) probably benign Het
Inpp5b A G 4: 124,679,047 (GRCm39) T485A probably benign Het
Insrr A G 3: 87,709,848 (GRCm39) probably null Het
Lig3 T C 11: 82,680,548 (GRCm39) probably benign Het
Lmo7 T A 14: 102,166,696 (GRCm39) Y1047* probably null Het
Map4k4 A G 1: 40,025,853 (GRCm39) E281G possibly damaging Het
Mmel1 A G 4: 154,975,311 (GRCm39) T431A possibly damaging Het
Myh10 T C 11: 68,590,239 (GRCm39) V58A probably benign Het
Myo1e A T 9: 70,194,231 (GRCm39) H14L possibly damaging Het
Myo1g C T 11: 6,462,181 (GRCm39) V594M probably damaging Het
Nr4a2 G A 2: 57,000,778 (GRCm39) R226C probably damaging Het
Obox3 A G 7: 15,361,202 (GRCm39) L21P probably benign Het
Or2y13 A G 11: 49,414,817 (GRCm39) D89G possibly damaging Het
Pate12 T G 9: 36,344,132 (GRCm39) S38R probably benign Het
Phlpp1 T A 1: 106,320,118 (GRCm39) I1371N probably damaging Het
Pramel29 A G 4: 143,934,821 (GRCm39) probably null Het
Proser3 G A 7: 30,243,034 (GRCm39) A181V probably damaging Het
Pudp A T 18: 50,701,472 (GRCm39) L87Q probably benign Het
Siglecf T C 7: 43,008,163 (GRCm39) S559P probably damaging Het
Slc22a16 A G 10: 40,449,756 (GRCm39) H85R probably benign Het
Spata32 T C 11: 103,101,588 (GRCm39) D15G probably benign Het
Szt2 G A 4: 118,239,886 (GRCm39) A1899V unknown Het
Tomm40 C T 7: 19,435,759 (GRCm39) V324M probably damaging Het
Trgv7 C A 13: 19,362,211 (GRCm39) probably benign Het
Ttll4 C T 1: 74,719,567 (GRCm39) P25S probably damaging Het
Vps13b G T 15: 35,869,446 (GRCm39) C2650F probably damaging Het
Wdr83os T C 8: 85,807,870 (GRCm39) L40P probably damaging Het
Zfp977 T C 7: 42,232,072 (GRCm39) R64G probably damaging Het
Other mutations in C1qtnf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00266:C1qtnf2 APN 11 43,376,826 (GRCm39) missense possibly damaging 0.93
PIT4305001:C1qtnf2 UTSW 11 43,382,022 (GRCm39) missense probably damaging 1.00
R0226:C1qtnf2 UTSW 11 43,381,670 (GRCm39) missense probably benign
R1412:C1qtnf2 UTSW 11 43,381,959 (GRCm39) missense probably damaging 1.00
R1796:C1qtnf2 UTSW 11 43,382,114 (GRCm39) missense probably damaging 1.00
R2145:C1qtnf2 UTSW 11 43,381,811 (GRCm39) missense probably damaging 1.00
R2504:C1qtnf2 UTSW 11 43,381,983 (GRCm39) missense probably damaging 1.00
R3829:C1qtnf2 UTSW 11 43,382,148 (GRCm39) missense probably benign
R5106:C1qtnf2 UTSW 11 43,376,880 (GRCm39) missense possibly damaging 0.71
R5547:C1qtnf2 UTSW 11 43,381,794 (GRCm39) missense probably damaging 1.00
R5879:C1qtnf2 UTSW 11 43,376,835 (GRCm39) missense probably damaging 0.99
R8138:C1qtnf2 UTSW 11 43,376,838 (GRCm39) missense probably damaging 1.00
R8218:C1qtnf2 UTSW 11 43,381,775 (GRCm39) missense possibly damaging 0.87
R9184:C1qtnf2 UTSW 11 43,365,180 (GRCm39) missense probably benign
R9444:C1qtnf2 UTSW 11 43,376,661 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02