Incidental Mutation 'R6555:C1qtnf3'
ID 522110
Institutional Source Beutler Lab
Gene Symbol C1qtnf3
Ensembl Gene ENSMUSG00000058914
Gene Name C1q and tumor necrosis factor related protein 3
Synonyms CTRP3, CORS-26, 2310005P21Rik, Corcs
MMRRC Submission 044680-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6555 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 10952418-10980236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10975742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 256 (M256V)
Ref Sequence ENSEMBL: ENSMUSP00000106152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022853] [ENSMUST00000110523]
AlphaFold Q9ES30
Predicted Effect probably benign
Transcript: ENSMUST00000022853
AA Change: M183V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000022853
Gene: ENSMUSG00000058914
AA Change: M183V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 54 75 N/A INTRINSIC
low complexity region 78 93 N/A INTRINSIC
C1Q 111 245 2.26e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110523
AA Change: M256V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106152
Gene: ENSMUSG00000058914
AA Change: M256V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 127 148 N/A INTRINSIC
low complexity region 151 166 N/A INTRINSIC
C1Q 184 318 2.26e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (40/41)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to collagen-induced arthritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,752,468 (GRCm39) I480V probably damaging Het
Akap1 A T 11: 88,735,708 (GRCm39) I351N probably damaging Het
Carm1 T A 9: 21,498,258 (GRCm39) C421S probably damaging Het
Celsr2 T C 3: 108,302,235 (GRCm39) D2631G probably damaging Het
Cfap206 A G 4: 34,719,049 (GRCm39) V319A probably damaging Het
Cntnap2 T A 6: 46,736,694 (GRCm39) W707R probably damaging Het
Ctss T A 3: 95,450,340 (GRCm39) L97* probably null Het
Eif2ak4 A T 2: 118,258,350 (GRCm39) N455Y probably damaging Het
Ercc6 G A 14: 32,239,064 (GRCm39) E51K probably benign Het
Gm10318 G A 10: 77,688,855 (GRCm39) probably benign Het
Gp6 C T 7: 4,387,929 (GRCm39) R180Q probably damaging Het
Gtsf1 T C 15: 103,333,902 (GRCm39) I25V probably damaging Het
Igkv1-99 A G 6: 68,519,300 (GRCm39) R85G probably damaging Het
Il36a G A 2: 24,114,611 (GRCm39) probably null Het
Iqsec3 T C 6: 121,361,178 (GRCm39) H935R probably damaging Het
Loxhd1 T C 18: 77,380,965 (GRCm39) V94A possibly damaging Het
Lrp2 T C 2: 69,339,647 (GRCm39) K1088R probably benign Het
Lsm3 GATATATA GATATATATA 6: 91,496,617 (GRCm39) probably null Het
Lyst A G 13: 13,823,510 (GRCm39) N1494S probably benign Het
Mta3 C T 17: 84,015,875 (GRCm39) R26W probably damaging Het
Nup88 T C 11: 70,835,006 (GRCm39) R660G possibly damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or4q3 G A 14: 50,583,303 (GRCm39) Q168* probably null Het
Or5d16 T A 2: 87,773,632 (GRCm39) E113D probably damaging Het
Or8b51 C A 9: 38,569,585 (GRCm39) M34I probably benign Het
Pcdhga10 A G 18: 37,882,488 (GRCm39) T750A probably damaging Het
Plxnb1 A G 9: 108,937,473 (GRCm39) probably null Het
Ppip5k1 T C 2: 121,168,093 (GRCm39) E720G probably damaging Het
Pramel27 A G 4: 143,578,140 (GRCm39) I133M possibly damaging Het
Ptprn2 T C 12: 117,190,820 (GRCm39) Y786H probably damaging Het
Safb2 A G 17: 56,874,600 (GRCm39) V614A probably damaging Het
Safb2 A G 17: 56,889,982 (GRCm39) probably null Het
Selp C T 1: 163,969,171 (GRCm39) probably null Het
Slc16a10 T C 10: 39,956,774 (GRCm39) I122V probably benign Het
Slc22a22 G A 15: 57,122,527 (GRCm39) T131M probably benign Het
Trmt2a A T 16: 18,071,067 (GRCm39) I574F probably benign Het
Tsen54 C T 11: 115,711,519 (GRCm39) T156I probably benign Het
Vps13b A G 15: 35,846,993 (GRCm39) N2592S probably damaging Het
Wdr64 G A 1: 175,547,856 (GRCm39) R131H probably damaging Het
Other mutations in C1qtnf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01361:C1qtnf3 APN 15 10,960,768 (GRCm39) missense probably damaging 1.00
IGL02491:C1qtnf3 APN 15 10,972,067 (GRCm39) missense possibly damaging 0.69
mimosa_pudica UTSW 15 10,958,156 (GRCm39) critical splice donor site probably null
R0083:C1qtnf3 UTSW 15 10,975,718 (GRCm39) missense possibly damaging 0.89
R1136:C1qtnf3 UTSW 15 10,978,670 (GRCm39) missense probably damaging 0.98
R1447:C1qtnf3 UTSW 15 10,952,735 (GRCm39) missense probably damaging 1.00
R1510:C1qtnf3 UTSW 15 10,975,722 (GRCm39) missense probably benign 0.05
R4536:C1qtnf3 UTSW 15 10,972,113 (GRCm39) missense probably damaging 0.98
R5397:C1qtnf3 UTSW 15 10,978,627 (GRCm39) missense probably damaging 0.99
R5833:C1qtnf3 UTSW 15 10,975,716 (GRCm39) missense probably benign 0.06
R6483:C1qtnf3 UTSW 15 10,958,156 (GRCm39) critical splice donor site probably null
R7324:C1qtnf3 UTSW 15 10,952,707 (GRCm39) missense probably benign 0.04
R7456:C1qtnf3 UTSW 15 10,972,137 (GRCm39) missense probably benign 0.02
R7772:C1qtnf3 UTSW 15 10,958,130 (GRCm39) missense possibly damaging 0.75
R8765:C1qtnf3 UTSW 15 10,952,843 (GRCm39) critical splice donor site probably null
R9281:C1qtnf3 UTSW 15 10,978,607 (GRCm39) missense probably benign 0.05
R9608:C1qtnf3 UTSW 15 10,952,568 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TAGTCATAGCAACAGGCCATG -3'
(R):5'- GACTGCACTAGTTTCTTGCTGC -3'

Sequencing Primer
(F):5'- TAGCAACAGGCCATGAAGAAACTAC -3'
(R):5'- TTGGTTAACTCAGGTGGCAAAC -3'
Posted On 2018-06-06