Incidental Mutation 'R7900:Cnst'
ID 609926
Institutional Source Beutler Lab
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
MMRRC Submission 045952-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R7900 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 179450453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 639 (D639G)
Ref Sequence ENSEMBL: ENSMUSP00000048205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040706]
AlphaFold Q8CBC4
Predicted Effect probably damaging
Transcript: ENSMUST00000040706
AA Change: D639G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949
AA Change: D639G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Adamtsl5 A G 10: 80,177,735 (GRCm39) F309S probably damaging Het
Ankle1 C T 8: 71,860,061 (GRCm39) T213I probably damaging Het
C4b A G 17: 34,958,751 (GRCm39) S528P probably benign Het
Camk2a A G 18: 61,090,438 (GRCm39) Y222C probably damaging Het
Ctbp2 A C 7: 132,616,328 (GRCm39) S202R probably benign Het
Cwf19l2 G T 9: 3,460,107 (GRCm39) L798F probably damaging Het
Cyp11a1 T A 9: 57,923,667 (GRCm39) V124E possibly damaging Het
Ddx3y C T Y: 1,266,594 (GRCm39) probably null Het
Dlst G T 12: 85,177,292 (GRCm39) R346L probably benign Het
Dnah2 A G 11: 69,409,254 (GRCm39) S375P probably damaging Het
Dnm3 T A 1: 162,182,940 (GRCm39) Y125F probably benign Het
Dock9 C T 14: 121,783,491 (GRCm39) A2011T possibly damaging Het
Efr3a T A 15: 65,719,984 (GRCm39) probably null Het
Egln1 A T 8: 125,640,879 (GRCm39) I319N possibly damaging Het
Gata3 T A 2: 9,863,461 (GRCm39) N351I probably damaging Het
Gjd3 T C 11: 102,690,920 (GRCm39) N361S probably benign Het
Gpcpd1 T C 2: 132,376,659 (GRCm39) T546A probably damaging Het
Gpihbp1 T C 15: 75,469,791 (GRCm39) F169L probably benign Het
Gpnmb A T 6: 49,027,400 (GRCm39) I375L possibly damaging Het
Itpka A T 2: 119,580,994 (GRCm39) T381S probably benign Het
Lhx4 T C 1: 155,617,709 (GRCm39) probably benign Het
Lrguk T C 6: 34,106,129 (GRCm39) L718P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nr1d1 T A 11: 98,660,537 (GRCm39) T477S probably benign Het
Nxnl1 A T 8: 72,019,170 (GRCm39) D18E probably damaging Het
Onecut2 G T 18: 64,474,658 (GRCm39) R403L probably damaging Het
Or51v14 T C 7: 103,260,900 (GRCm39) Y220C possibly damaging Het
Or5an1 T A 19: 12,260,705 (GRCm39) C98S probably damaging Het
Pla2r1 T C 2: 60,258,858 (GRCm39) T1177A possibly damaging Het
Prkd2 T C 7: 16,587,269 (GRCm39) V405A probably benign Het
Ranbp1 T C 16: 18,063,161 (GRCm39) T72A probably damaging Het
Retnla A C 16: 48,663,977 (GRCm39) R90S probably benign Het
Sec31b A T 19: 44,514,669 (GRCm39) I385N probably damaging Het
Slc6a19 C T 13: 73,848,583 (GRCm39) R57H probably damaging Het
Smurf1 T C 5: 144,836,183 (GRCm39) D110G probably damaging Het
Specc1 A G 11: 62,110,187 (GRCm39) Y975C probably damaging Het
Tas2r136 T A 6: 132,754,599 (GRCm39) N176I possibly damaging Het
Tecrl A C 5: 83,427,188 (GRCm39) V320G probably benign Het
Tmem245 A G 4: 56,924,973 (GRCm39) probably null Het
Tpd52l1 T A 10: 31,214,178 (GRCm39) probably null Het
Trbv2 A G 6: 41,024,908 (GRCm39) Y108C probably damaging Het
Trpm7 T C 2: 126,639,418 (GRCm39) M1689V probably benign Het
Usp24 A G 4: 106,266,597 (GRCm39) Y1855C probably damaging Het
Usp9y A T Y: 1,384,354 (GRCm39) S721R possibly damaging Het
Vwf G A 6: 125,605,439 (GRCm39) probably null Het
Washc4 T A 10: 83,409,637 (GRCm39) probably null Het
Yeats4 G A 10: 117,056,464 (GRCm39) H71Y possibly damaging Het
Zbtb38 A C 9: 96,570,989 (GRCm39) L32V probably damaging Het
Zfy1 T C Y: 725,519 (GRCm39) T749A possibly 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
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
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'- GCCGATAAGTCCCAGATACG -3'
(R):5'- TCTGGGTTGGTGAGACTACAAAG -3'

Sequencing Primer
(F):5'- GATAAGTCCCAGATACGCCCCAC -3'
(R):5'- GGTGAGACTACAAAGACTATTTTGC -3'
Posted On 2019-12-20