Incidental Mutation 'R5879:C1qtnf2'
ID 455726
Institutional Source Beutler Lab
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 # R5879 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 43365103-43382352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43376835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 99 (M99T)
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: M69T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051652
Gene: ENSMUSG00000046491
AA Change: M69T

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
AA Change: M69T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000133616
Gene: ENSMUSG00000046491
AA Change: M69T

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: M99T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134705
Gene: ENSMUSG00000046491
AA Change: M99T

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 C T 7: 44,796,930 (GRCm39) W66* probably null Het
Arhgap39 T C 15: 76,636,007 (GRCm39) D76G probably damaging Het
Arhgef2 G A 3: 88,550,924 (GRCm39) probably null Het
Cyren A G 6: 34,851,593 (GRCm39) L87P probably damaging Het
Eml3 G A 19: 8,912,379 (GRCm39) C392Y possibly damaging Het
Ephb4 C A 5: 137,358,678 (GRCm39) P287Q probably benign Het
Fat4 G T 3: 38,941,485 (GRCm39) R126L probably benign Het
Flt3 T C 5: 147,271,719 (GRCm39) M858V probably damaging Het
Gprin3 A C 6: 59,331,698 (GRCm39) I203R probably benign Het
Insr G T 8: 3,248,173 (GRCm39) Y457* probably null Het
Ipo13 G A 4: 117,760,400 (GRCm39) T649I possibly damaging Het
Krba1 A G 6: 48,392,678 (GRCm39) D818G possibly damaging Het
Llgl1 G A 11: 60,603,806 (GRCm39) G1016R probably benign Het
Loxl4 A G 19: 42,596,066 (GRCm39) V142A probably benign Het
Mthfd1 A G 12: 76,340,992 (GRCm39) I464V probably benign Het
Mycs C A X: 5,380,131 (GRCm39) K316N probably damaging Het
Ncor2 A G 5: 125,103,839 (GRCm39) probably benign Het
Nlrc3 A G 16: 3,781,909 (GRCm39) F516S probably damaging Het
Oacyl A G 18: 65,882,743 (GRCm39) S540G probably damaging Het
Olfml2a A T 2: 38,850,242 (GRCm39) T653S probably damaging Het
Or8s16 C T 15: 98,211,369 (GRCm39) V21I probably benign Het
Pcnx2 A T 8: 126,500,685 (GRCm39) N1468K probably damaging Het
Plbd1 A G 6: 136,611,503 (GRCm39) I258T probably damaging Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Pramel21 A T 4: 143,344,161 (GRCm39) Y487F possibly damaging Het
Prop1 C T 11: 50,844,153 (GRCm39) V27M probably damaging Het
Rfx4 T G 10: 84,650,625 (GRCm39) probably null Het
Rgs11 C T 17: 26,422,437 (GRCm39) probably benign Het
Slc6a5 T A 7: 49,595,260 (GRCm39) F541I probably damaging Het
Srgap3 A T 6: 112,699,807 (GRCm39) V1057E possibly damaging Het
Synpo2 A T 3: 122,907,946 (GRCm39) W457R probably damaging Het
Tet2 T A 3: 133,193,721 (GRCm39) N238Y possibly damaging Het
Tiam2 T A 17: 3,487,540 (GRCm39) M687K probably damaging Het
Ticrr A G 7: 79,346,438 (GRCm39) E1866G probably benign Het
Tspan8 T C 10: 115,669,156 (GRCm39) S64P possibly damaging Het
Ugt2b37 C T 5: 87,402,265 (GRCm39) G122D probably benign Het
Uqcrc2 A G 7: 120,237,111 (GRCm39) E53G probably damaging Het
Vcan T C 13: 89,852,071 (GRCm39) D963G probably damaging Het
Vmn2r24 T A 6: 123,764,226 (GRCm39) Y368N possibly damaging Het
Wdr5 A G 2: 27,418,323 (GRCm39) T208A probably benign Het
Zbtb18 A G 1: 177,275,936 (GRCm39) Y423C probably damaging Het
Zc3h6 A G 2: 128,839,696 (GRCm39) probably null 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
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
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'- CAACCATGATCTCCTGGGTAC -3'
(R):5'- TCAGCAGATGGATGGTCTTC -3'

Sequencing Primer
(F):5'- AACCATGATCTCCTGGGTACTCTTG -3'
(R):5'- TCCAATTGGTTATTAACAGGTAGTG -3'
Posted On 2017-02-10