Incidental Mutation 'R6767:Cnst'
ID 531957
Institutional Source Beutler Lab
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
MMRRC Submission 044883-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R6767 (G1)
Quality Score 176.009
Status Validated
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 179437519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 361 (T361I)
Ref Sequence ENSEMBL: ENSMUSP00000048205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040706]
AlphaFold Q8CBC4
Predicted Effect possibly damaging
Transcript: ENSMUST00000040706
AA Change: T361I

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949
AA Change: T361I

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l G A 8: 44,079,951 (GRCm39) T91I probably damaging Het
Ak7 A G 12: 105,732,866 (GRCm39) N537D probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Atp8a2 A G 14: 60,284,171 (GRCm39) F47S probably damaging Het
Cadps T A 14: 12,550,888 (GRCm38) T449S probably damaging Het
Ccdc33 C G 9: 57,940,527 (GRCm39) Q489H possibly damaging Het
Cd163 T G 6: 124,281,738 (GRCm39) S14A possibly damaging Het
Cemip G A 7: 83,647,832 (GRCm39) L83F probably damaging Het
Chrd C T 16: 20,557,376 (GRCm39) P665L probably benign Het
Cib4 T A 5: 30,691,589 (GRCm39) H44L probably benign Het
Clic1 T A 17: 35,272,029 (GRCm39) L99Q probably benign Het
Dnah6 C A 6: 73,110,591 (GRCm39) V1613L probably benign Het
Dnajb8 T C 6: 88,199,634 (GRCm39) S57P probably damaging Het
Dyrk3 T C 1: 131,057,327 (GRCm39) H282R probably damaging Het
Fasn T C 11: 120,708,313 (GRCm39) I651V possibly damaging Het
Gas6 A G 8: 13,515,784 (GRCm39) S663P probably damaging Het
Gbp8 T C 5: 105,166,478 (GRCm39) M284V probably benign Het
Gm12695 T C 4: 96,650,933 (GRCm39) probably null Het
Gm6034 T A 17: 36,354,023 (GRCm39) M1K probably null Het
Gm9376 A G 14: 118,504,648 (GRCm39) T27A unknown Het
Grid2 A G 6: 63,907,999 (GRCm39) D213G probably benign Het
Gsdma3 A T 11: 98,528,710 (GRCm39) D388V possibly damaging Het
H4c2 T A 13: 23,941,005 (GRCm39) M1K probably null Het
Hdac9 T A 12: 34,337,528 (GRCm39) H716L probably damaging Het
Hivep1 T C 13: 42,308,203 (GRCm39) S148P probably damaging Het
Kctd1 T C 18: 15,195,232 (GRCm39) T464A possibly damaging Het
Kera A G 10: 97,445,034 (GRCm39) D131G possibly damaging Het
Kif2c C T 4: 117,035,385 (GRCm39) R21Q probably benign Het
Luc7l3 G T 11: 94,183,779 (GRCm39) D453E probably damaging Het
Mrpl9 A G 3: 94,357,528 (GRCm39) probably benign Het
Mtss1 T C 15: 58,825,430 (GRCm39) S257G probably benign Het
N4bp2 T C 5: 65,974,530 (GRCm39) F1467L probably damaging Het
Naa25 T C 5: 121,577,928 (GRCm39) V945A probably damaging Het
Nrg1 T C 8: 32,407,923 (GRCm39) I103M probably damaging Het
Or2w1b C T 13: 21,300,227 (GRCm39) R122C probably benign Het
Orm3 C T 4: 63,274,531 (GRCm39) T32I probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Plch1 A T 3: 63,662,765 (GRCm39) M246K probably damaging Het
Pld4 A C 12: 112,730,549 (GRCm39) D144A possibly damaging Het
Prelp C A 1: 133,840,448 (GRCm39) V345L probably benign Het
Rnf121 A G 7: 101,672,619 (GRCm39) F238L probably damaging Het
Rnf40 A G 7: 127,195,757 (GRCm39) K667R possibly damaging Het
Scgb1b12 A T 7: 32,033,920 (GRCm39) N60I probably damaging Het
Serpina3n T G 12: 104,375,321 (GRCm39) V131G probably benign Het
Slc22a21 T C 11: 53,870,328 (GRCm39) Y119C probably damaging Het
Slc22a28 A G 19: 8,094,409 (GRCm39) F204S probably damaging Het
Smc6 T A 12: 11,321,821 (GRCm39) D29E possibly damaging Het
Smgc T A 15: 91,725,601 (GRCm39) F40Y possibly damaging Het
Sorcs3 G T 19: 48,702,010 (GRCm39) L630F probably damaging Het
Sphk1 A G 11: 116,426,982 (GRCm39) K306E possibly damaging Het
Spmip2 A T 3: 79,337,330 (GRCm39) D46V probably benign Het
Spsb1 C T 4: 149,991,301 (GRCm39) G89D probably damaging Het
Stat4 G T 1: 52,115,742 (GRCm39) M227I probably benign Het
Syngr4 A G 7: 45,536,915 (GRCm39) V116A possibly damaging Het
Tacc1 T C 8: 25,730,816 (GRCm39) M1V probably null Het
Tcf7l1 T G 6: 72,608,275 (GRCm39) K355Q probably damaging Het
Tmem192 T C 8: 65,416,888 (GRCm39) S36P probably damaging Het
Top3a G T 11: 60,641,579 (GRCm39) N368K possibly damaging Het
Tpk1 T A 6: 43,323,727 (GRCm39) I241F possibly damaging Het
Trappc10 A G 10: 78,029,345 (GRCm39) I1064T possibly damaging Het
Vmn1r18 T A 6: 57,367,206 (GRCm39) K116M probably damaging Het
Vmn2r40 A T 7: 8,923,139 (GRCm39) H407Q unknown Het
Vmn2r91 T A 17: 18,327,807 (GRCm39) L467H probably damaging Het
Wdr59 G T 8: 112,202,733 (GRCm39) S603R probably damaging Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp324 A C 7: 12,704,527 (GRCm39) K74N probably null Het
Zfyve16 A G 13: 92,644,707 (GRCm39) L1165P 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
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
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'- ATTGAAACCTGTCCCAGCAC -3'
(R):5'- GGTGTGCCTGTGAATATTTACCC -3'

Sequencing Primer
(F):5'- TCCCAGCACGGATCCAAGTG -3'
(R):5'- TCTGAAATCAACCCAGGCAGTG -3'
Posted On 2018-08-29