Incidental Mutation 'R7356:Cnst'
ID 570925
Institutional Source Beutler Lab
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
MMRRC Submission 045442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R7356 (G1)
Quality Score 201.009
Status Not validated
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 179434095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 304 (P304S)
Ref Sequence ENSEMBL: ENSMUSP00000048205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040706]
AlphaFold Q8CBC4
Predicted Effect probably benign
Transcript: ENSMUST00000040706
AA Change: P304S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949
AA Change: P304S

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: 100.0%
  • 10x: 99.8%
  • 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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 A T 4: 49,383,507 (GRCm39) D15E probably damaging Het
Adamts16 G A 13: 70,984,399 (GRCm39) T88I probably benign Het
Akap6 A C 12: 52,958,647 (GRCm39) N801H probably damaging Het
Ankfn1 G T 11: 89,325,599 (GRCm39) N524K probably damaging Het
Ap5s1 A G 2: 131,054,582 (GRCm39) N131S probably damaging Het
Astn2 A T 4: 66,103,503 (GRCm39) D303E unknown Het
Babam1 T C 8: 71,852,208 (GRCm39) V132A probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 CACTGGTT CACTGGTTCTATGGTGACTGGTT 3: 95,795,495 (GRCm39) probably benign Het
BC028528 TCTGTGGTCACTGGT TCTGTGGTCACTGGTCCTGTGGTCACTGGT 3: 95,795,487 (GRCm39) probably benign Het
BC028528 GGTCACTGGTTCTGT GGTCACTGGTTCTGTAGTCACTGGTTCTGT 3: 95,795,477 (GRCm39) probably benign Het
BC028528 GTTCTGTGGTCACTGGTTCTGTGGTCACTG GTTCTGTGGTCACTGCTTCTGTGGTCACTGGTTCTGTGGTCACTG 3: 95,795,470 (GRCm39) probably benign Het
BC028528 TGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC TGGTTCTGTGGTCACGGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC 3: 95,795,453 (GRCm39) probably benign Het
Cog4 A T 8: 111,576,498 (GRCm39) probably null Het
Cyp2j13 A T 4: 95,965,655 (GRCm39) H17Q probably benign Het
Dock6 G A 9: 21,721,195 (GRCm39) T1662I probably damaging Het
Dysf T C 6: 84,044,443 (GRCm39) F270S probably damaging Het
Erbb4 A G 1: 68,378,514 (GRCm39) probably null Het
Fam120b A T 17: 15,627,958 (GRCm39) Q550L probably benign Het
Fam83b A T 9: 76,400,135 (GRCm39) F323I probably benign Het
Far1 T A 7: 113,167,349 (GRCm39) I478N possibly damaging Het
Gdpd5 T A 7: 99,108,085 (GRCm39) I554N probably damaging Het
Glrx3 T C 7: 137,054,453 (GRCm39) S79P probably damaging Het
Hltf T C 3: 20,163,534 (GRCm39) I888T probably damaging Het
Hpx A G 7: 105,240,917 (GRCm39) V452A probably damaging Het
Itk T G 11: 46,258,659 (GRCm39) Q81P possibly damaging Het
Kdm6b G A 11: 69,292,991 (GRCm39) Q1262* probably null Het
Lpcat2 T C 8: 93,591,611 (GRCm39) V85A probably benign Het
Lrrk2 A T 15: 91,622,947 (GRCm39) H1039L probably benign Het
Mapk3 T C 7: 126,360,087 (GRCm39) probably null Het
Masp1 A T 16: 23,288,993 (GRCm39) N602K possibly damaging Het
Myo7a T A 7: 97,751,890 (GRCm39) Q40L probably benign Het
Nek1 A T 8: 61,573,994 (GRCm39) M1081L probably benign Het
Nes T C 3: 87,885,058 (GRCm39) S1106P possibly damaging Het
Nkpd1 A T 7: 19,257,699 (GRCm39) I493F probably damaging Het
Npsr1 C G 9: 24,009,557 (GRCm39) S21C probably benign Het
Oog1 G A 12: 87,653,047 (GRCm39) probably null Het
Or11g1 G A 14: 50,651,159 (GRCm39) V53M probably damaging Het
Or5g24-ps1 G A 2: 85,463,782 (GRCm39) R3K probably benign Het
Or5k8 A T 16: 58,644,718 (GRCm39) M118K probably damaging Het
Osbpl9 G T 4: 108,925,677 (GRCm39) Y340* probably null Het
Pcyox1l A T 18: 61,840,621 (GRCm39) L11Q probably null Het
Pdxdc1 G A 16: 13,677,867 (GRCm39) R255C probably damaging Het
Pgap1 A G 1: 54,569,293 (GRCm39) S358P probably benign Het
Pgm2l1 A G 7: 99,917,326 (GRCm39) Y481C possibly damaging Het
Plekhf1 T C 7: 37,921,545 (GRCm39) T8A possibly damaging Het
Plg G T 17: 12,629,798 (GRCm39) G611C probably damaging Het
Prf1 A C 10: 61,139,059 (GRCm39) D339A possibly damaging Het
Prph A G 15: 98,954,807 (GRCm39) Y291C probably damaging Het
Rasal1 A G 5: 120,792,890 (GRCm39) S48G possibly damaging Het
Rigi A G 4: 40,226,600 (GRCm39) S231P probably benign Het
Ripk4 T A 16: 97,544,349 (GRCm39) Q766L probably damaging Het
Scaf1 T C 7: 44,657,208 (GRCm39) D557G unknown Het
Scaper A T 9: 55,799,495 (GRCm39) M190K unknown Het
Scn8a A T 15: 100,855,460 (GRCm39) I202F probably damaging Het
Siglecf A G 7: 43,005,855 (GRCm39) I505V probably benign Het
Sirpb1c A G 3: 15,886,297 (GRCm39) S360P probably benign Het
Sla2 C A 2: 156,720,623 (GRCm39) probably null Het
Slc11a1 G T 1: 74,424,648 (GRCm39) V544L probably benign Het
Slco1a5 T A 6: 142,180,458 (GRCm39) K648I probably benign Het
Sorcs1 T A 19: 50,163,595 (GRCm39) I1020F possibly damaging Het
Spen C A 4: 141,199,235 (GRCm39) E3131* probably null Het
Sult2a7 A T 7: 14,211,031 (GRCm39) W162R probably damaging Het
Sult3a1 G A 10: 33,742,579 (GRCm39) E69K probably benign Het
Tcof1 G T 18: 60,951,166 (GRCm39) D1119E unknown Het
Tom1l2 A T 11: 60,139,853 (GRCm39) I272K probably damaging Het
Tspan5 C T 3: 138,448,193 (GRCm39) probably benign Het
Ttn A G 2: 76,698,244 (GRCm39) L186P Het
Uap1l1 T C 2: 25,251,696 (GRCm39) E496G possibly damaging Het
Ube2v1 A T 2: 167,451,115 (GRCm39) I117N possibly damaging Het
Usp42 A G 5: 143,702,842 (GRCm39) V593A possibly damaging Het
Virma T A 4: 11,513,595 (GRCm39) I483N probably damaging Het
Vwde T A 6: 13,192,641 (GRCm39) I421F probably damaging Het
Zfp345 G A 2: 150,314,209 (GRCm39) H443Y probably damaging Het
Zfp760 A G 17: 21,941,601 (GRCm39) T259A probably benign Het
Zfp941 T C 7: 140,392,028 (GRCm39) I444V possibly damaging Het
Zfyve9 A C 4: 108,576,212 (GRCm39) S290A probably benign 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
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'- CATGCCTGCAGTTTTCTAGC -3'
(R):5'- ACCAAAGCTATTTCAGACCACTCTG -3'

Sequencing Primer
(F):5'- ATGCCTGCAGTTTTCTAGCTTAATAC -3'
(R):5'- GCTATTTCAGACCACTCTGTATAATC -3'
Posted On 2019-09-13