Incidental Mutation 'R5087:Cnst'
ID 387488
Institutional Source Beutler Lab
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
MMRRC Submission 042676-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5087 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 179450378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 614 (D614G)
Ref Sequence ENSEMBL: ENSMUSP00000048205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040706]
AlphaFold Q8CBC4
Predicted Effect possibly damaging
Transcript: ENSMUST00000040706
AA Change: D614G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949
AA Change: D614G

DomainStartEndE-ValueType
low complexity region 109 126 N/A INTRINSIC
low complexity region 142 150 N/A INTRINSIC
low complexity region 555 566 N/A INTRINSIC
Pfam:Consortin_C 598 709 3.4e-56 PFAM
Meta Mutation Damage Score 0.0614 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (66/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A G 1: 9,631,851 (GRCm39) probably benign Het
Anln T C 9: 22,286,340 (GRCm39) T322A possibly damaging Het
Best3 A T 10: 116,844,907 (GRCm39) Y354F probably benign Het
Cd44 C T 2: 102,661,699 (GRCm39) V509I possibly damaging Het
Cdk5rap1 T C 2: 154,184,315 (GRCm39) N529S probably damaging Het
Cpq T C 15: 33,213,008 (GRCm39) I9T probably benign Het
Cyp2j6 T C 4: 96,419,936 (GRCm39) H265R probably damaging Het
Dctn1 T A 6: 83,168,621 (GRCm39) M458K probably damaging Het
Disc1 A C 8: 125,858,899 (GRCm39) I454L probably benign Het
Dnaja4 A G 9: 54,607,023 (GRCm39) E4G probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eipr1 C A 12: 28,878,855 (GRCm39) N136K probably benign Het
Fut11 A G 14: 20,746,229 (GRCm39) N357S probably damaging Het
Gbp2b C T 3: 142,304,015 (GRCm39) P37S probably damaging Het
Ghr T G 15: 3,349,622 (GRCm39) K519Q probably damaging Het
Gipr C A 7: 18,893,689 (GRCm39) C328F probably damaging Het
Gm27013 A T 6: 130,654,633 (GRCm39) N276K probably damaging Het
Got2 C A 8: 96,598,951 (GRCm39) K150N probably benign Het
Gucy2c A G 6: 136,744,033 (GRCm39) S189P possibly damaging Het
H2-T5 C A 17: 36,476,308 (GRCm39) G347* probably null Het
Hells T C 19: 38,932,189 (GRCm39) V153A probably benign Het
Ighd G A 12: 113,378,047 (GRCm39) probably benign Het
Inhca C T 9: 103,143,420 (GRCm39) V361M probably damaging Het
Itga4 A C 2: 79,145,973 (GRCm39) D725A possibly damaging Het
Itgbl1 T A 14: 124,204,151 (GRCm39) L414Q possibly damaging Het
Kat2b-ps A G 5: 93,539,585 (GRCm39) noncoding transcript Het
Lrrc1 A T 9: 77,364,740 (GRCm39) S192T probably benign Het
Mc2r A T 18: 68,541,274 (GRCm39) N6K probably benign Het
Moxd2 A C 6: 40,856,270 (GRCm39) L534W probably damaging Het
Myh4 A T 11: 67,146,235 (GRCm39) D1431V probably damaging Het
Naa15 T A 3: 51,364,706 (GRCm39) probably null Het
Naa16 G A 14: 79,614,855 (GRCm39) T215I possibly damaging Het
Ntng1 A T 3: 110,042,645 (GRCm39) Y60* probably null Het
Or1e29 T C 11: 73,668,084 (GRCm39) Y23C possibly damaging Het
Or2g25 A T 17: 37,970,612 (GRCm39) V204E probably damaging Het
Pccb T C 9: 100,867,296 (GRCm39) probably benign Het
Pcnx1 C A 12: 82,041,713 (GRCm39) P2115Q probably damaging Het
Pfkfb3 G A 2: 11,488,825 (GRCm39) T313I probably damaging Het
Pld1 A G 3: 28,178,731 (GRCm39) N875S probably damaging Het
Ptpn20 A T 14: 33,336,398 (GRCm39) D79V possibly damaging Het
Rabgap1l C A 1: 160,549,809 (GRCm39) V266L probably damaging Het
Reep6 A G 10: 80,171,009 (GRCm39) D295G probably damaging Het
Sass6 T C 3: 116,403,947 (GRCm39) L195P probably damaging Het
Slc25a27 A G 17: 43,977,821 (GRCm39) S25P probably damaging Het
Smok2b T A 17: 13,454,011 (GRCm39) M57K probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Sspo T C 6: 48,465,405 (GRCm39) V71A possibly damaging Het
Stab1 G A 14: 30,881,261 (GRCm39) L590F probably damaging Het
Stard9 T A 2: 120,527,500 (GRCm39) Y1252* probably null Het
Syde2 T A 3: 145,712,881 (GRCm39) D1006E probably damaging Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Tmc5 G A 7: 118,244,609 (GRCm39) A496T possibly damaging Het
Ttn A G 2: 76,566,704 (GRCm39) V28063A probably damaging Het
Usp25 A C 16: 76,874,007 (GRCm39) I528L probably benign Het
Vmn1r58 C T 7: 5,413,666 (GRCm39) S188N probably benign Het
Wfikkn2 A T 11: 94,129,173 (GRCm39) C323S probably damaging Het
Zfy1 A C Y: 732,964 (GRCm39) S290A unknown Het
Other mutations in Cnst
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Cnst APN 1 179,452,557 (GRCm39) splice site probably benign
Doldrums UTSW 1 179,432,638 (GRCm39) splice site probably null
ennui UTSW 1 179,434,100 (GRCm39) critical splice donor site probably null
R0360:Cnst UTSW 1 179,407,100 (GRCm39) missense probably benign 0.00
R1391:Cnst UTSW 1 179,407,051 (GRCm39) missense possibly damaging 0.81
R1743:Cnst UTSW 1 179,437,957 (GRCm39) missense probably benign 0.18
R1909:Cnst UTSW 1 179,450,356 (GRCm39) missense probably damaging 1.00
R3856:Cnst UTSW 1 179,407,279 (GRCm39) missense probably benign 0.02
R4565:Cnst UTSW 1 179,432,114 (GRCm39) missense probably damaging 1.00
R5041:Cnst UTSW 1 179,432,593 (GRCm39) missense probably damaging 0.99
R5072:Cnst UTSW 1 179,450,451 (GRCm39) missense possibly damaging 0.61
R5294:Cnst UTSW 1 179,438,005 (GRCm39) missense probably benign 0.03
R5349:Cnst UTSW 1 179,450,462 (GRCm39) missense possibly damaging 0.58
R5394:Cnst UTSW 1 179,429,301 (GRCm39) splice site probably benign
R6020:Cnst UTSW 1 179,437,440 (GRCm39) missense probably benign
R6198:Cnst UTSW 1 179,420,430 (GRCm39) missense probably damaging 1.00
R6669:Cnst UTSW 1 179,432,638 (GRCm39) splice site probably null
R6767:Cnst UTSW 1 179,437,519 (GRCm39) missense possibly damaging 0.92
R7007:Cnst UTSW 1 179,438,133 (GRCm39) missense probably damaging 1.00
R7179:Cnst UTSW 1 179,406,947 (GRCm39) start gained probably benign
R7356:Cnst UTSW 1 179,434,095 (GRCm39) missense probably benign 0.01
R7730:Cnst UTSW 1 179,452,650 (GRCm39) missense probably damaging 1.00
R7900:Cnst UTSW 1 179,450,453 (GRCm39) missense probably damaging 1.00
R8073:Cnst UTSW 1 179,434,002 (GRCm39) missense probably benign 0.00
R8194:Cnst UTSW 1 179,437,759 (GRCm39) missense probably benign 0.00
R8738:Cnst UTSW 1 179,420,274 (GRCm39) missense probably benign 0.00
R8857:Cnst UTSW 1 179,437,878 (GRCm39) missense probably damaging 1.00
R9035:Cnst UTSW 1 179,437,587 (GRCm39) missense possibly damaging 0.94
R9062:Cnst UTSW 1 179,434,100 (GRCm39) critical splice donor site probably null
R9106:Cnst UTSW 1 179,432,162 (GRCm39) missense probably damaging 1.00
R9190:Cnst UTSW 1 179,407,039 (GRCm39) small deletion probably benign
R9287:Cnst UTSW 1 179,407,108 (GRCm39) missense possibly damaging 0.61
R9429:Cnst UTSW 1 179,432,566 (GRCm39) missense probably damaging 1.00
Z1088:Cnst UTSW 1 179,407,130 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCGTATCTTAAGTGCTGTCAC -3'
(R):5'- ACCCTTACAAATCCTGCTGGC -3'

Sequencing Primer
(F):5'- TGCTGTCACTAAGCTAGACG -3'
(R):5'- AAATCCTGCTGGCAAACTTCGTG -3'
Posted On 2016-06-06