Incidental Mutation 'R8073:Cnst'
ID 620319
Institutional Source Beutler Lab
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R8073 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 179434002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 273 (T273A)
Ref Sequence ENSEMBL: ENSMUSP00000048205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040706]
AlphaFold Q8CBC4
Predicted Effect probably benign
Transcript: ENSMUST00000040706
AA Change: T273A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949
AA Change: T273A

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: 99.7%
  • 20x: 99.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,337,019 (GRCm39) V533I probably benign Het
Akap3 A T 6: 126,842,736 (GRCm39) T452S probably damaging Het
Angpt1 C T 15: 42,301,699 (GRCm39) M436I probably benign Het
B3galt4 T C 17: 34,169,797 (GRCm39) K147R probably damaging Het
Birc6 C A 17: 74,910,080 (GRCm39) T1491K probably damaging Het
Boll T C 1: 55,394,881 (GRCm39) probably benign Het
C6 T C 15: 4,764,675 (GRCm39) F124L probably benign Het
Camta1 T C 4: 151,163,281 (GRCm39) Y436C probably damaging Het
Celsr1 T C 15: 85,823,356 (GRCm39) N1684S probably benign Het
Cflar T C 1: 58,791,981 (GRCm39) L428P Het
Clk4 T C 11: 51,168,716 (GRCm39) I363T probably benign Het
Col5a1 C T 2: 27,852,141 (GRCm39) A546V possibly damaging Het
Col6a6 T A 9: 105,659,146 (GRCm39) N600Y probably benign Het
Cxadr A G 16: 78,130,301 (GRCm39) N156S probably benign Het
Diaph1 C T 18: 38,024,850 (GRCm39) G537E unknown Het
Dmxl1 T A 18: 50,011,500 (GRCm39) V1219D probably damaging Het
Dnajb12 T A 10: 59,726,001 (GRCm39) Y95* probably null Het
Dnajc5g A G 5: 31,269,029 (GRCm39) T137A probably benign Het
Dpy19l3 G A 7: 35,429,173 (GRCm39) T89M probably damaging Het
Dusp19 C A 2: 80,447,828 (GRCm39) T34N probably benign Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Enpp1 A G 10: 24,555,142 (GRCm39) V68A possibly damaging Het
Epha7 T A 4: 28,821,022 (GRCm39) D62E probably damaging Het
Frmd4b A T 6: 97,283,674 (GRCm39) V445E probably benign Het
Gp9 A C 6: 87,756,336 (GRCm39) D117A probably benign Het
Haao T C 17: 84,142,649 (GRCm39) E152G possibly damaging Het
Ift70a2 A G 2: 75,806,997 (GRCm39) V505A probably damaging Het
Ighd A G 12: 113,379,789 (GRCm39) S52P probably benign Het
Ikzf3 T C 11: 98,358,255 (GRCm39) K361E probably benign Het
Lgi2 T A 5: 52,704,013 (GRCm39) E206V probably benign Het
Mfsd11 T A 11: 116,754,749 (GRCm39) V220E probably benign Het
Moxd1 G T 10: 24,128,848 (GRCm39) G200C probably damaging Het
Mthfd1l C A 10: 3,923,417 (GRCm39) Q55K probably benign Het
Nlrp9a T A 7: 26,260,260 (GRCm39) L672M probably damaging Het
Npvf A C 6: 50,631,349 (GRCm39) F9V probably damaging Het
Nup205 G T 6: 35,179,104 (GRCm39) probably null Het
Nup43 T C 10: 7,546,713 (GRCm39) V111A probably benign Het
Obscn C T 11: 59,026,516 (GRCm39) R229H probably benign Het
Olfml2a C A 2: 38,847,766 (GRCm39) R442S probably damaging Het
Or10j2 A G 1: 173,098,552 (GRCm39) D270G probably benign Het
Or2ag16 C A 7: 106,352,008 (GRCm39) E196* probably null Het
Or4c120 T A 2: 89,001,284 (GRCm39) I91F probably damaging Het
Or5b12b T A 19: 12,861,980 (GRCm39) V245E probably benign Het
Or9s13 T A 1: 92,547,806 (GRCm39) D59E probably damaging Het
Pcdhga7 T C 18: 37,848,398 (GRCm39) F135S probably damaging Het
Pde4a A T 9: 21,122,065 (GRCm39) I654F probably damaging Het
Pip5kl1 G A 2: 32,473,440 (GRCm39) R359Q possibly damaging Het
Ppp2ca T C 11: 52,010,124 (GRCm39) V244A possibly damaging Het
Qrich1 T A 9: 108,411,627 (GRCm39) L384H possibly damaging Het
Rab4a T C 8: 124,554,135 (GRCm39) V62A possibly damaging Het
Ranbp10 A G 8: 106,513,261 (GRCm39) L217P probably damaging Het
Rhebl1 C T 15: 98,776,405 (GRCm39) A131T probably benign Het
Rnf150 A T 8: 83,590,546 (GRCm39) probably benign Het
Slc32a1 G A 2: 158,456,685 (GRCm39) A447T probably damaging Het
Spag5 T A 11: 78,192,803 (GRCm39) M45K probably benign Het
Spata13 A G 14: 60,928,705 (GRCm39) N88D probably damaging Het
Spred2 C A 11: 19,958,422 (GRCm39) T128N probably benign Het
Tenm2 T C 11: 36,030,471 (GRCm39) E776G possibly damaging Het
Tet1 C G 10: 62,649,132 (GRCm39) E156Q probably damaging Het
Tmc1 T C 19: 20,845,725 (GRCm39) N166S probably benign Het
Trim43a C A 9: 88,464,490 (GRCm39) Q134K possibly damaging Het
Tsks A T 7: 44,607,305 (GRCm39) M543L probably benign Het
Ttn T C 2: 76,574,181 (GRCm39) K25571E probably damaging Het
Vamp5 C A 6: 72,357,436 (GRCm39) probably benign Het
Vmn2r79 A T 7: 86,651,462 (GRCm39) Q287L probably benign Het
Zfp326 T A 5: 106,062,682 (GRCm39) V517E unknown Het
Zfp467 A T 6: 48,414,959 (GRCm39) H564Q probably damaging Het
Zfp51 G A 17: 21,684,294 (GRCm39) C303Y 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
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
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'- TGACATTTGTTTGGAAGCATGC -3'
(R):5'- TTCCAACCCAGCATTTCACATG -3'

Sequencing Primer
(F):5'- CTCTTGTCCAAGCTTAAGGTAAGAGG -3'
(R):5'- GTAACACTTAAAATGCTGCAGGTGAC -3'
Posted On 2020-01-23