Incidental Mutation 'R9035:Cnst'
ID 687268
Institutional Source Beutler Lab
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
MMRRC Submission 068864-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R9035 (G1)
Quality Score 198.009
Status Not validated
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 179437587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 384 (A384T)
Ref Sequence ENSEMBL: ENSMUSP00000048205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040706]
AlphaFold Q8CBC4
Predicted Effect possibly damaging
Transcript: ENSMUST00000040706
AA Change: A384T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949
AA Change: A384T

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: 98.3%
Validation Efficiency 99% (90/91)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,021,461 (GRCm39) L1083P probably damaging Het
Anxa7 G T 14: 20,510,460 (GRCm39) T356K probably damaging Het
Atg16l1 T C 1: 87,693,167 (GRCm39) probably null Het
Bptf A G 11: 106,963,842 (GRCm39) V1784A probably damaging Het
Cabs1 T C 5: 88,128,309 (GRCm39) V320A probably damaging Het
Camta1 A C 4: 151,229,159 (GRCm39) S558A probably benign Het
Ccdc180 A T 4: 45,906,922 (GRCm39) K466* probably null Het
Cdhr1 G A 14: 36,810,924 (GRCm39) P279L possibly damaging Het
Cenpe A G 3: 134,976,572 (GRCm39) N2393S probably benign Het
Cep104 T C 4: 154,063,462 (GRCm39) V8A probably benign Het
Chaf1a T A 17: 56,371,110 (GRCm39) V665E probably damaging Het
Clasp1 T A 1: 118,431,583 (GRCm39) D404E probably damaging Het
Clnk G A 5: 38,907,751 (GRCm39) T169I possibly damaging Het
Ctnnd2 T A 15: 30,332,162 (GRCm39) M15K possibly damaging Het
Dlgap1 T A 17: 70,823,855 (GRCm39) L280Q possibly damaging Het
Dll1 T C 17: 15,588,959 (GRCm39) K572R probably benign Het
Dnai4 T A 4: 102,905,499 (GRCm39) K761* probably null Het
Dolk C A 2: 30,174,542 (GRCm39) W501L probably damaging Het
Ednrb G A 14: 104,080,665 (GRCm39) P83L probably benign Het
Edrf1 T C 7: 133,245,431 (GRCm39) W190R probably damaging Het
Epha5 T A 5: 84,255,886 (GRCm39) D468V probably damaging Het
Fat2 G T 11: 55,194,547 (GRCm39) P1164Q probably damaging Het
Fbln5 A T 12: 101,717,041 (GRCm39) V436E probably damaging Het
Fbxw10 G T 11: 62,758,449 (GRCm39) R558L possibly damaging Het
Fhod3 C A 18: 25,161,140 (GRCm39) S557R probably benign Het
Gmip A T 8: 70,273,298 (GRCm39) H863L probably damaging Het
Grm3 A T 5: 9,620,464 (GRCm39) I260N probably damaging Het
Gtpbp8 G A 16: 44,566,511 (GRCm39) P64S probably benign Het
Hand1 A C 11: 57,722,548 (GRCm39) M22R probably benign Het
Ift70b T C 2: 75,767,596 (GRCm39) T386A probably benign Het
Igsf21 A G 4: 139,884,782 (GRCm39) V58A probably damaging Het
Ikzf2 G A 1: 69,578,637 (GRCm39) R291* probably null Het
Itih4 C G 14: 30,618,650 (GRCm39) P687R probably benign Het
Kifc3 C T 8: 95,853,195 (GRCm39) D54N possibly damaging Het
Kmt2c G T 5: 25,524,010 (GRCm39) Q1739K probably damaging Het
Krtap4-1 G T 11: 99,518,708 (GRCm39) R101S unknown Het
L3mbtl2 T A 15: 81,560,744 (GRCm39) probably benign Het
Lcor A T 19: 41,573,399 (GRCm39) H718L probably benign Het
Lrrc73 T C 17: 46,565,293 (GRCm39) I8T probably damaging Het
Med19 C A 2: 84,516,532 (GRCm39) probably benign Het
Mgarp C T 3: 51,296,264 (GRCm39) S246N unknown Het
Mkrn2 T C 6: 115,594,681 (GRCm39) S414P possibly damaging Het
Mucl2 C T 15: 103,926,279 (GRCm39) R137H unknown Het
Myo1g A G 11: 6,464,916 (GRCm39) Y453H probably damaging Het
Nacc2 C A 2: 25,951,605 (GRCm39) R410L probably damaging Het
Ndufs3 C T 2: 90,725,217 (GRCm39) R210H probably damaging Het
Nlgn1 G T 3: 25,488,595 (GRCm39) T580K probably damaging Het
Nobox A T 6: 43,284,522 (GRCm39) D41E probably damaging Het
Nsd1 A G 13: 55,393,667 (GRCm39) R526G possibly damaging Het
Nt5e A G 9: 88,246,873 (GRCm39) M370V probably benign Het
Olfm5 T A 7: 103,803,099 (GRCm39) N455Y probably damaging Het
Or2g7 T C 17: 38,378,179 (GRCm39) V39A probably benign Het
Or4c101 T A 2: 88,389,863 (GRCm39) F6I probably damaging Het
Or52e19 T C 7: 102,959,186 (GRCm39) I86T probably damaging Het
Or8g50 G A 9: 39,648,886 (GRCm39) M258I probably benign Het
Or8k33 T A 2: 86,384,021 (GRCm39) Y149F probably damaging Het
Pcdhac2 T C 18: 37,277,758 (GRCm39) V246A probably damaging Het
Pclo A T 5: 14,763,192 (GRCm39) Q603H Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,573,176 (GRCm39) Q1910L probably damaging Het
Plg C A 17: 12,609,107 (GRCm39) Y137* probably null Het
Prkra T C 2: 76,460,856 (GRCm39) I281V probably benign Het
Prrc2c A C 1: 162,503,295 (GRCm39) L2722R possibly damaging Het
Prss12 A G 3: 123,279,149 (GRCm39) T409A probably damaging Het
Rnaseh1 A G 12: 28,708,290 (GRCm39) Q256R probably benign Het
Rpp14 T A 14: 8,083,772 (GRCm38) Y17N possibly damaging Het
Ryr1 A T 7: 28,790,422 (GRCm39) H1468Q probably damaging Het
Scp2 C T 4: 107,912,717 (GRCm39) V463M probably damaging Het
Sf3b4 C A 3: 96,080,381 (GRCm39) H43Q probably damaging Het
Sgpp1 T C 12: 75,782,238 (GRCm39) S34G probably benign Het
Shisa9 T A 16: 11,802,902 (GRCm39) I153N probably damaging Het
Sin3b C A 8: 73,450,092 (GRCm39) P3H unknown Het
Slc15a2 C A 16: 36,602,719 (GRCm39) K47N possibly damaging Het
Slc30a6 T A 17: 74,726,586 (GRCm39) F297L probably benign Het
Slc45a3 TGGGG TGGGGG 1: 131,909,187 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,476 (GRCm39) D88V probably benign Het
Tgs1 C A 4: 3,593,491 (GRCm39) Q460K probably benign Het
Tlr11 A T 14: 50,598,434 (GRCm39) D140V probably benign Het
Tmem215 T A 4: 40,473,945 (GRCm39) N7K probably damaging Het
Tmem245 T C 4: 56,922,384 (GRCm39) probably benign Het
Tnfsf10 G A 3: 27,389,379 (GRCm39) D147N probably benign Het
Tpm1 A G 9: 66,955,138 (GRCm39) L57P possibly damaging Het
Trappc10 T C 10: 78,043,723 (GRCm39) probably benign Het
Trmt9b C T 8: 36,978,954 (GRCm39) R186* probably null Het
Ttn T C 2: 76,593,061 (GRCm39) T20730A possibly damaging Het
Uap1 A T 1: 169,977,013 (GRCm39) Y395* probably null Het
Usp2 A T 9: 43,987,176 (GRCm39) D158V probably damaging Het
Usp30 A G 5: 114,243,877 (GRCm39) M149V probably benign Het
Vmn2r2 T C 3: 64,024,172 (GRCm39) N803S probably damaging Het
Vmn2r85 A G 10: 130,261,479 (GRCm39) V286A probably benign Het
Xdh T C 17: 74,217,222 (GRCm39) H682R probably benign Het
Zbed3 T A 13: 95,472,999 (GRCm39) L141Q probably damaging Het
Zfp623 T C 15: 75,820,162 (GRCm39) C373R 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
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
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'- TTGAAACCTGTCCCAGCACG -3'
(R):5'- GGTGTGCCTGTGAATATTTACCC -3'

Sequencing Primer
(F):5'- TCCAAGTGGAGACCGGCATG -3'
(R):5'- CTCTGAAATCAACCCAGGCAGTG -3'
Posted On 2021-11-19