Incidental Mutation 'R1412:C1qtnf2'
ID 159644
Institutional Source Beutler Lab
Gene Symbol C1qtnf2
Ensembl Gene ENSMUSG00000046491
Gene Name C1q and tumor necrosis factor related protein 2
Synonyms CTRP2, 1810033K05Rik
MMRRC Submission 039468-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1412 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 43365103-43382352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43381959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 257 (Y257C)
Ref Sequence ENSEMBL: ENSMUSP00000134705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057679] [ENSMUST00000151912] [ENSMUST00000173002]
AlphaFold Q9D8U4
Predicted Effect probably damaging
Transcript: ENSMUST00000057679
AA Change: Y227C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051652
Gene: ENSMUSG00000046491
AA Change: Y227C

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 damaging
Transcript: ENSMUST00000173002
AA Change: Y257C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134705
Gene: ENSMUSG00000046491
AA Change: Y257C

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
Meta Mutation Damage Score 0.2987 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.5%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T C 19: 8,867,359 (GRCm39) probably benign Het
Abca15 C T 7: 119,944,546 (GRCm39) R394C possibly damaging Het
Adamts9 T C 6: 92,773,414 (GRCm39) Q1152R probably benign Het
Adgrv1 C T 13: 81,243,569 (GRCm39) G6277E probably damaging Het
Agbl2 A G 2: 90,619,298 (GRCm39) N41S probably benign Het
Akap7 A T 10: 25,165,495 (GRCm39) probably null Het
Arl6ip1 A G 7: 117,719,591 (GRCm39) I179T possibly damaging Het
Atp1a4 C T 1: 172,059,576 (GRCm39) D839N probably damaging Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
C1qtnf12 T C 4: 156,047,190 (GRCm39) V52A probably benign Het
Cdc123 A T 2: 5,808,776 (GRCm39) D233E possibly damaging Het
Chdh G A 14: 29,756,680 (GRCm39) E369K probably benign Het
D630045J12Rik A G 6: 38,172,695 (GRCm39) V491A probably benign Het
Focad T C 4: 88,196,498 (GRCm39) probably null Het
Gabbr1 T C 17: 37,365,805 (GRCm39) probably null Het
Hat1 G T 2: 71,250,961 (GRCm39) E170* probably null Het
Hs3st5 A T 10: 36,708,672 (GRCm39) H69L probably benign Het
Igsf10 T C 3: 59,235,196 (GRCm39) probably benign Het
Itga2b A T 11: 102,347,831 (GRCm39) L890Q probably benign Het
Or52e8b A G 7: 104,673,402 (GRCm39) F262L probably damaging Het
Or7d11 C G 9: 19,966,711 (GRCm39) G16A possibly damaging Het
Parp10 A G 15: 76,127,284 (GRCm39) L51P probably damaging Het
Pbld2 A G 10: 62,883,301 (GRCm39) T108A probably damaging Het
Pdlim2 A T 14: 70,411,773 (GRCm39) probably benign Het
Pikfyve T C 1: 65,241,989 (GRCm39) V243A possibly damaging Het
Pla2g12b G A 10: 59,239,804 (GRCm39) probably null Het
Raly A G 2: 154,699,315 (GRCm39) T40A possibly damaging Het
Rasgrp3 G T 17: 75,816,822 (GRCm39) probably null Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Smim22 G C 16: 4,825,649 (GRCm39) E11D possibly damaging Het
Socs2 T C 10: 95,250,780 (GRCm39) S18G probably benign Het
Srgap2 T C 1: 131,228,151 (GRCm39) E720G possibly damaging Het
Tas2r135 A G 6: 42,382,768 (GRCm39) I102M probably benign Het
Tex19.2 A G 11: 121,007,761 (GRCm39) V229A possibly damaging Het
Vmn1r234 T A 17: 21,449,512 (GRCm39) I142N probably benign Het
Vps35l A T 7: 118,409,194 (GRCm39) I612F probably damaging Het
Vwa3a C T 7: 120,379,377 (GRCm39) T494I probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zfhx3 A G 8: 109,641,199 (GRCm39) D1166G possibly damaging Het
Other mutations in C1qtnf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00266:C1qtnf2 APN 11 43,376,826 (GRCm39) missense possibly damaging 0.93
IGL03178:C1qtnf2 APN 11 43,381,816 (GRCm39) missense probably damaging 0.98
PIT4305001:C1qtnf2 UTSW 11 43,382,022 (GRCm39) missense probably damaging 1.00
R0226:C1qtnf2 UTSW 11 43,381,670 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- TTTCCGTGGCGGTAACCAAGAG -3'
(R):5'- AAGATTGTCAGTCCACAGCCCCAG -3'

Sequencing Primer
(F):5'- AGAGCTACCCACGCGAG -3'
(R):5'- AGTCGAGGGATCTTCCTCCAG -3'
Posted On 2014-03-14