Incidental Mutation 'R5349:Cnst'
ID 422755
Institutional Source Beutler Lab
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
MMRRC Submission 042928-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5349 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 179450462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 642 (E642G)
Ref Sequence ENSEMBL: ENSMUSP00000048205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040706]
AlphaFold Q8CBC4
Predicted Effect possibly damaging
Transcript: ENSMUST00000040706
AA Change: E642G

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949
AA Change: E642G

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T C 19: 4,917,986 (GRCm39) E327G possibly damaging Het
Cd209d T G 8: 3,928,320 (GRCm39) M22L probably benign Het
Chrna2 T C 14: 66,380,956 (GRCm39) V75A probably damaging Het
Diaph1 A G 18: 38,024,125 (GRCm39) V571A unknown Het
Dip2c C A 13: 9,672,689 (GRCm39) H1032N probably damaging Het
Eif4a3l1 A T 6: 136,306,694 (GRCm39) D385V probably damaging Het
Fbxl3 T C 14: 103,333,012 (GRCm39) probably benign Het
Glb1 T C 9: 114,263,529 (GRCm39) probably null Het
Gm8220 T C 14: 44,525,634 (GRCm39) I101T probably benign Het
Grin2b A G 6: 136,021,281 (GRCm39) C7R possibly damaging Het
Myo15a T C 11: 60,384,409 (GRCm39) I516T probably damaging Het
Nr1i3 A G 1: 171,042,641 (GRCm39) D89G possibly damaging Het
Ogfod1 T G 8: 94,781,876 (GRCm39) probably benign Het
Or4k2 G T 14: 50,424,230 (GRCm39) S148* probably null Het
Pard3 G T 8: 128,142,224 (GRCm39) D930Y probably damaging Het
Pde7b C T 10: 20,494,932 (GRCm39) C9Y probably damaging Het
Pilra T A 5: 137,829,488 (GRCm39) D192V probably damaging Het
Ptprj A G 2: 90,301,605 (GRCm39) S176P probably benign Het
Slc4a2 T C 5: 24,640,633 (GRCm39) V685A possibly damaging Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
Stox2 A G 8: 47,740,951 (GRCm39) F44L possibly damaging Het
Tlr11 T C 14: 50,598,337 (GRCm39) F108L probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A C 2: 76,638,450 (GRCm39) I13943M probably damaging Het
Wdfy4 T C 14: 32,710,856 (GRCm39) D2577G probably damaging Het
Zyg11a A T 4: 108,040,929 (GRCm39) F675I probably damaging 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
R5087:Cnst UTSW 1 179,450,378 (GRCm39) missense possibly damaging 0.82
R5294:Cnst UTSW 1 179,438,005 (GRCm39) missense probably benign 0.03
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'- GATAAGTCCCAGATACGCCC -3'
(R):5'- TCTGGGTTGGTGAGACTACAAAG -3'

Sequencing Primer
(F):5'- GTCCCAGATACGCCCCACAC -3'
(R):5'- GGTGAGACTACAAAGACTATTTTGC -3'
Posted On 2016-08-04