Incidental Mutation 'R9702:Cd164'
ID 729625
Institutional Source Beutler Lab
Gene Symbol Cd164
Ensembl Gene ENSMUSG00000019818
Gene Name CD164 antigen
Synonyms A24, A115, MGC-24
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R9702 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 41395496-41407038 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41404818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 192 (R192Q)
Ref Sequence ENSEMBL: ENSMUSP00000019962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019962] [ENSMUST00000186388]
AlphaFold Q9R0L9
Predicted Effect probably damaging
Transcript: ENSMUST00000019962
AA Change: R192Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019962
Gene: ENSMUSG00000019818
AA Change: R192Q

signal peptide 1 23 N/A INTRINSIC
low complexity region 32 53 N/A INTRINSIC
Pfam:MGC-24 57 197 6.5e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186388
Predicted Effect
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.] This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts with the C-X-C chemokine receptor type 4 and may regulate muscle development. Elevated expression of this gene has been observed in human patients with Sezary syndrome, a type of blood cancer, and a mutation in this gene may be associated with impaired hearing. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,107,378 (GRCm39) Y746H probably damaging Het
Adgrv1 T A 13: 81,684,483 (GRCm39) I1073F possibly damaging Het
Ankrd6 C T 4: 32,810,202 (GRCm39) R493H possibly damaging Het
Apob G T 12: 8,057,559 (GRCm39) A2014S probably damaging Het
Bdnf A T 2: 109,554,117 (GRCm39) M164L possibly damaging Het
Ccdc187 C T 2: 26,172,222 (GRCm39) V287M unknown Het
Cd84 T C 1: 171,700,498 (GRCm39) V205A probably benign Het
Cfap161 T A 7: 83,442,652 (GRCm39) M54L probably benign Het
Crim1 T A 17: 78,681,516 (GRCm39) V990E probably damaging Het
Dsc1 A G 18: 20,227,685 (GRCm39) F518L probably benign Het
Esyt1 G A 10: 128,356,607 (GRCm39) S346L probably damaging Het
Fbxo30 G T 10: 11,166,382 (GRCm39) C368F probably benign Het
Gas2l3 C T 10: 89,249,943 (GRCm39) A392T probably benign Het
Gfra4 T A 2: 130,884,539 (GRCm39) S22C probably benign Het
Gm11992 T G 11: 9,006,568 (GRCm39) V166G probably benign Het
Gp1bb A T 16: 18,439,884 (GRCm39) L70Q probably damaging Het
Gtf2i T C 5: 134,275,415 (GRCm39) T707A probably benign Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Kynu T A 2: 43,479,469 (GRCm39) M121K probably damaging Het
Ldb3 A G 14: 34,299,090 (GRCm39) V178A probably benign Het
Lrrc31 A G 3: 30,735,226 (GRCm39) L350P probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mrps23 C T 11: 88,100,998 (GRCm39) T121M probably damaging Het
Nlrp4c T A 7: 6,068,801 (GRCm39) V234E probably benign Het
Or51f1e T C 7: 102,747,343 (GRCm39) Y132H probably damaging Het
Pign A T 1: 105,485,212 (GRCm39) D782E probably damaging Het
Rab11b C A 17: 33,968,026 (GRCm39) R82L possibly damaging Het
Sema3c T C 5: 17,858,828 (GRCm39) S76P probably damaging Het
Slc28a2b T A 2: 122,354,012 (GRCm39) I546N probably damaging Het
Sobp T C 10: 42,897,944 (GRCm39) N547S probably benign Het
Tigd3 G A 19: 5,942,836 (GRCm39) T98M probably damaging Het
Tox T G 4: 6,697,418 (GRCm39) M462L probably benign Het
Vmn1r158 T A 7: 22,490,065 (GRCm39) Q48L probably benign Het
Vps8 A G 16: 21,462,883 (GRCm39) T1383A probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp108 C T 7: 23,960,195 (GRCm39) T262I probably benign Het
Other mutations in Cd164
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Cd164 APN 10 41,404,691 (GRCm39) missense probably benign 0.24
FR4340:Cd164 UTSW 10 41,397,922 (GRCm39) missense probably benign 0.00
FR4342:Cd164 UTSW 10 41,397,922 (GRCm39) missense probably benign 0.00
FR4589:Cd164 UTSW 10 41,397,922 (GRCm39) missense probably benign 0.00
LCD18:Cd164 UTSW 10 41,397,922 (GRCm39) missense probably benign 0.00
R1988:Cd164 UTSW 10 41,399,177 (GRCm39) missense probably benign 0.19
R5678:Cd164 UTSW 10 41,395,948 (GRCm39) critical splice donor site probably null
R7076:Cd164 UTSW 10 41,399,193 (GRCm39) missense probably benign 0.38
R9186:Cd164 UTSW 10 41,404,695 (GRCm39) missense probably damaging 1.00
Z1176:Cd164 UTSW 10 41,395,561 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-10-06