Incidental Mutation 'R9429:Cnst'
ID 712785
Institutional Source Beutler Lab
Gene Symbol Cnst
Ensembl Gene ENSMUSG00000038949
Gene Name consortin, connexin sorting protein
Synonyms 9630058J23Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R9429 (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 C at 179432566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 243 (N243T)
Ref Sequence ENSEMBL: ENSMUSP00000048205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040706]
AlphaFold Q8CBC4
Predicted Effect probably damaging
Transcript: ENSMUST00000040706
AA Change: N243T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949
AA Change: N243T

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: 98.9%
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
5930422O12Rik A T 8: 33,919,165 (GRCm39) probably benign Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam7 G C 14: 68,771,080 (GRCm39) H15Q probably null Het
Adgrv1 A T 13: 81,567,468 (GRCm39) I5235N probably damaging Het
Adgrv1 A C 13: 81,741,165 (GRCm39) C100G probably damaging Het
Aebp1 A G 11: 5,821,649 (GRCm39) T1063A probably benign Het
Atmin A G 8: 117,670,307 (GRCm39) R48G probably benign Het
Atxn10 A G 15: 85,346,565 (GRCm39) E441G probably benign Het
Catsper1 T C 19: 5,389,755 (GRCm39) V505A possibly damaging Het
Chd5 T C 4: 152,447,364 (GRCm39) V471A probably damaging Het
Cma2 A G 14: 56,210,276 (GRCm39) I110V possibly damaging Het
Col15a1 A T 4: 47,310,439 (GRCm39) N1203I probably damaging Het
Col6a3 T A 1: 90,731,585 (GRCm39) H1556L probably benign Het
Crybg3 T A 16: 59,375,556 (GRCm39) K185N probably benign Het
Dnah1 G A 14: 30,997,499 (GRCm39) Q2620* probably null Het
Dusp10 A C 1: 183,801,091 (GRCm39) D286A probably benign Het
Erich6 A G 3: 58,536,935 (GRCm39) V252A possibly damaging Het
Fhod1 A G 8: 106,057,139 (GRCm39) L945P probably damaging Het
Foxh1 C T 15: 76,553,442 (GRCm39) R120Q probably null Het
Frmd4b T C 6: 97,279,252 (GRCm39) D591G probably damaging Het
Gbe1 G A 16: 70,292,203 (GRCm39) V512I probably benign Het
Ghitm A G 14: 36,852,655 (GRCm39) S142P probably damaging Het
Gldc C T 19: 30,091,172 (GRCm39) A808T possibly damaging Het
Gm14496 C T 2: 181,637,934 (GRCm39) T336I possibly damaging Het
Ido2 T C 8: 25,037,194 (GRCm39) T171A probably damaging Het
Kctd19 A T 8: 106,109,652 (GRCm39) I930N probably damaging Het
Kctd2 T C 11: 115,318,277 (GRCm39) Y187H probably damaging Het
L3hypdh T C 12: 72,124,203 (GRCm39) T246A probably damaging Het
Lama1 A G 17: 68,118,449 (GRCm39) M2554V Het
Laptm5 A G 4: 130,655,961 (GRCm39) Y93C Het
Mroh2b T A 15: 4,963,907 (GRCm39) L833Q probably damaging Het
Ms4a12 T C 19: 11,193,424 (GRCm39) D187G probably damaging Het
Muc4 C T 16: 32,576,098 (GRCm39) T1866I unknown Het
Myo1a G T 10: 127,543,247 (GRCm39) D168Y probably damaging Het
Nek1 C T 8: 61,559,892 (GRCm39) S1005L probably benign Het
Nrg1 T A 8: 32,308,592 (GRCm39) M523L probably benign Het
Nt5c2 T A 19: 46,877,459 (GRCm39) H494L probably benign Het
Oasl2 G A 5: 115,043,040 (GRCm39) V271I probably benign Het
Or13a1 T G 6: 116,471,292 (GRCm39) S241A probably damaging Het
Or52s1 C T 7: 102,861,871 (GRCm39) A268V possibly damaging Het
Or5e1 G T 7: 108,354,412 (GRCm39) M116I probably damaging Het
Per2 T C 1: 91,351,489 (GRCm39) T1006A probably benign Het
Phyhd1 C A 2: 30,156,917 (GRCm39) F19L probably benign Het
Pter T A 2: 12,985,112 (GRCm39) D147E probably benign Het
Rps6ka1 A C 4: 133,598,900 (GRCm39) L90V probably damaging Het
Rrp15 A T 1: 186,481,368 (GRCm39) D46E probably benign Het
Ryr2 A G 13: 11,809,459 (GRCm39) F789L probably damaging Het
Sepsecs T C 5: 52,801,294 (GRCm39) K456R probably benign Het
Septin11 G A 5: 93,321,397 (GRCm39) probably null Het
Sowahb T C 5: 93,191,080 (GRCm39) I546M possibly damaging Het
Spata31 C A 13: 65,070,336 (GRCm39) T828K probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Ston1 A G 17: 88,943,034 (GRCm39) T147A probably benign Het
Tcf3 G A 10: 80,252,436 (GRCm39) P350S probably benign Het
Tek A G 4: 94,715,515 (GRCm39) D402G probably benign Het
Themis3 T C 17: 66,866,665 (GRCm39) R192G probably damaging Het
Tmc1 T A 19: 20,793,548 (GRCm39) I538F possibly damaging Het
Trpc3 T G 3: 36,705,777 (GRCm39) I473L probably benign Het
Ttll2 A T 17: 7,620,085 (GRCm39) L4Q probably damaging Het
Urb2 T A 8: 124,750,226 (GRCm39) Y5* probably null Het
Vav3 T A 3: 109,564,561 (GRCm39) Y673* probably null Het
Vmn1r32 T A 6: 66,530,237 (GRCm39) T180S probably benign Het
Vmn1r90 A T 7: 14,295,647 (GRCm39) N150K probably damaging Het
Zbed6 A C 1: 133,585,453 (GRCm39) I628R probably damaging Het
Zfp1007 A T 5: 109,824,334 (GRCm39) L372* probably null Het
Zfp750 G A 11: 121,404,693 (GRCm39) R61C probably damaging Het
Zfp87 A G 13: 74,520,703 (GRCm39) I125T probably damaging Het
Zfta T C 19: 7,399,594 (GRCm39) L447P 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
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
Z1088:Cnst UTSW 1 179,407,130 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTGACGGGTCTGTATCTTAC -3'
(R):5'- CCTATGGAAACCAGGTGAGG -3'

Sequencing Primer
(F):5'- ACGGGTCTGTATCTTACTCTTCGTAG -3'
(R):5'- TCAATCCGCTCCAACTTAC -3'
Posted On 2022-05-16