Incidental Mutation 'R9190:Cnst'
ID 697660
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 # R9190 (G1)
Quality Score 217.468
Status Validated
Chromosome 1
Chromosomal Location 179374009-179455043 bp(+) (GRCm39)
Type of Mutation small deletion (3 aa in frame mutation)
DNA Base Change (assembly) GTGACACGCTTG to GTG at 179407039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040706]
AlphaFold Q8CBC4
Predicted Effect probably benign
Transcript: ENSMUST00000040706
SMART Domains Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (52/52)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C T 7: 40,642,880 (GRCm39) T183I possibly damaging Het
Abca13 T A 11: 9,241,886 (GRCm39) S1250T probably damaging Het
Adamts12 T A 15: 11,336,446 (GRCm39) S1510R probably benign Het
Adcy5 T A 16: 35,089,364 (GRCm39) C520* probably null Het
Arhgap21 A T 2: 20,858,983 (GRCm39) M1237K probably null Het
Atp8b4 T A 2: 126,225,607 (GRCm39) N541I probably damaging Het
Bbs12 G T 3: 37,375,223 (GRCm39) R557L probably damaging Het
Bcl7c T C 7: 127,266,200 (GRCm39) T183A probably benign Het
Brd7 A G 8: 89,081,274 (GRCm39) S192P probably damaging Het
Calhm3 G A 19: 47,146,121 (GRCm39) A28V probably benign Het
Ccdc113 A G 8: 96,263,101 (GRCm39) N37S probably damaging Het
Cdh5 T G 8: 104,867,337 (GRCm39) V538G probably damaging Het
Cfap43 T C 19: 47,726,293 (GRCm39) E1639G possibly damaging Het
Clca3a2 C T 3: 144,796,599 (GRCm39) V203I probably benign Het
Clstn2 A G 9: 97,414,815 (GRCm39) F360L probably damaging Het
Cog2 T C 8: 125,260,058 (GRCm39) Y234H probably damaging Het
Ddhd2 T C 8: 26,244,495 (GRCm39) S44G probably benign Het
Dync2i2 G T 2: 29,922,211 (GRCm39) H417N probably benign Het
Farp1 A G 14: 121,492,988 (GRCm39) E530G probably damaging Het
Fhad1 C T 4: 141,646,058 (GRCm39) probably null Het
Foxj3 T A 4: 119,477,538 (GRCm39) C449* probably null Het
Fsbp G C 4: 11,584,005 (GRCm39) V235L probably benign Het
Fuom T C 7: 139,681,252 (GRCm39) E73G probably benign Het
Gm5134 A G 10: 75,844,645 (GRCm39) H667R probably damaging Het
Igsf21 A G 4: 139,756,028 (GRCm39) I361T probably damaging Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Kmt2d A T 15: 98,749,896 (GRCm39) V2599E unknown Het
Lama1 T A 17: 68,111,514 (GRCm39) M2255K Het
Litafd C A 16: 8,501,647 (GRCm39) P50T Het
Lrrc32 A G 7: 98,148,234 (GRCm39) H338R probably benign Het
Map1b C A 13: 99,571,914 (GRCm39) R269L probably damaging Het
Ms4a5 T A 19: 11,256,733 (GRCm39) I55F probably damaging Het
Muc5b G C 7: 141,411,939 (GRCm39) L1628F unknown Het
Myo6 A G 9: 80,195,384 (GRCm39) Q918R unknown Het
Or1e25 T A 11: 73,493,877 (GRCm39) M157K probably benign Het
Or2t48 A G 11: 58,420,161 (GRCm39) V217A possibly damaging Het
Or5m11b T A 2: 85,805,884 (GRCm39) I99N possibly damaging Het
Or9i1b T G 19: 13,896,967 (GRCm39) N194K probably benign Het
Pals2 A G 6: 50,157,219 (GRCm39) R296G probably damaging Het
Plin5 A G 17: 56,419,462 (GRCm39) V320A probably damaging Het
Ptx4 A T 17: 25,342,257 (GRCm39) Q244L possibly damaging Het
Rab3gap1 A G 1: 127,858,495 (GRCm39) T535A probably benign Het
Ranbp2 T C 10: 58,313,117 (GRCm39) F1279S probably damaging Het
Rgl1 T C 1: 152,428,362 (GRCm39) H254R probably damaging Het
Rida C T 15: 34,487,909 (GRCm39) A69T probably damaging Het
Scn2a T C 2: 65,511,346 (GRCm39) F131L probably benign Het
Septin1 T C 7: 126,816,092 (GRCm39) I141V probably benign Het
Slc10a6 A G 5: 103,765,571 (GRCm39) S171P probably damaging Het
Slc18a1 A G 8: 69,519,790 (GRCm39) probably null Het
Slc38a6 T C 12: 73,388,526 (GRCm39) S247P possibly damaging Het
Tet2 A T 3: 133,187,147 (GRCm39) I1094K possibly damaging Het
Tmem234 C T 4: 129,501,333 (GRCm39) S138L probably benign Het
Trpv1 T A 11: 73,145,148 (GRCm39) probably null Het
Vmn2r60 T A 7: 41,844,935 (GRCm39) M766K probably damaging Het
Vmn2r84 T C 10: 130,226,843 (GRCm39) N332D probably benign Het
Zfp292 A T 4: 34,819,563 (GRCm39) I258N probably damaging Het
Zxdc A G 6: 90,375,773 (GRCm39) K750E 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
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'- GGAAACTGTTAGCCCCAGAG -3'
(R):5'- ATCTTTGGGACCTTCGCTTG -3'

Sequencing Primer
(F):5'- ACTGTTAGCCCCAGAGGTTAG -3'
(R):5'- ACCTTCGCTTGGAGTGTTTTC -3'
Posted On 2022-02-07