Incidental Mutation 'R5678:Cd164'
ID 442895
Institutional Source Beutler Lab
Gene Symbol Cd164
Ensembl Gene ENSMUSG00000019818
Gene Name CD164 antigen
Synonyms A24, A115, MGC-24
MMRRC Submission 043317-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R5678 (G1)
Quality Score 114
Status Validated
Chromosome 10
Chromosomal Location 41395496-41407038 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 41395948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000019962] [ENSMUST00000186388]
AlphaFold Q9R0L9
Predicted Effect probably benign
Transcript: ENSMUST00000019962
SMART Domains Protein: ENSMUSP00000019962
Gene: ENSMUSG00000019818

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000187279
Predicted Effect probably null
Transcript: ENSMUST00000189300
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,466,529 (GRCm39) T168A probably damaging Het
3425401B19Rik T A 14: 32,384,010 (GRCm39) R652W probably damaging Het
A530016L24Rik T G 12: 112,463,306 (GRCm39) C43W probably damaging Het
Aatk T C 11: 119,900,980 (GRCm39) T1082A probably benign Het
Acsl1 T A 8: 46,945,887 (GRCm39) F7I probably benign Het
Adgb T G 10: 10,307,070 (GRCm39) S299R possibly damaging Het
Apob T C 12: 8,041,494 (GRCm39) F738L possibly damaging Het
Art3 T C 5: 92,540,409 (GRCm39) Y51H probably damaging Het
Atr C T 9: 95,833,540 (GRCm39) Q2597* probably null Het
Atrn T C 2: 130,811,936 (GRCm39) V627A probably damaging Het
Baz1a T C 12: 54,947,317 (GRCm39) K1111E probably damaging Het
Ccdc40 T C 11: 119,122,398 (GRCm39) S67P possibly damaging Het
Cep295 T C 9: 15,234,154 (GRCm39) D2214G probably damaging Het
Clcn1 A G 6: 42,284,199 (GRCm39) Y589C probably damaging Het
Col1a2 C T 6: 4,536,239 (GRCm39) A998V unknown Het
Csrnp2 T C 15: 100,379,685 (GRCm39) *535W probably null Het
Dhrs7 C T 12: 72,704,106 (GRCm39) G130D probably damaging Het
Dnah3 T C 7: 119,677,074 (GRCm39) T477A probably benign Het
Dscam A G 16: 96,592,100 (GRCm39) F725S probably benign Het
Dstyk T C 1: 132,381,029 (GRCm39) V508A probably benign Het
Eif4g3 A G 4: 137,879,053 (GRCm39) E595G probably damaging Het
Epha6 A T 16: 59,639,342 (GRCm39) V844E probably damaging Het
Esrp2 G A 8: 106,858,750 (GRCm39) A629V probably damaging Het
Fndc3b A G 3: 27,483,172 (GRCm39) S1009P probably benign Het
Gm8257 A T 14: 44,894,706 (GRCm39) I28N probably damaging Het
Ighv5-9-1 T C 12: 113,700,207 (GRCm39) E4G possibly damaging Het
Ints3 A G 3: 90,310,855 (GRCm39) V455A probably damaging Het
Lamtor2 A G 3: 88,458,101 (GRCm39) probably benign Het
Npy1r T C 8: 67,156,855 (GRCm39) C92R probably damaging Het
Nup210l T C 3: 90,098,266 (GRCm39) V1406A probably damaging Het
Or10g7 T C 9: 39,905,199 (GRCm39) V31A probably benign Het
Or4a75 A G 2: 89,447,625 (GRCm39) F304L probably benign Het
Or4c108 A T 2: 88,803,317 (GRCm39) L306* probably null Het
Prune2 A G 19: 17,096,032 (GRCm39) D512G probably damaging Het
Qdpr T C 5: 45,604,979 (GRCm39) E43G possibly damaging Het
Rps6ka5 T C 12: 100,691,135 (GRCm39) E2G unknown Het
Setd2 A G 9: 110,431,254 (GRCm39) T5A probably damaging Het
Slc66a2 T C 18: 80,300,249 (GRCm39) I40T probably damaging Het
Srpk2 TCA T 5: 23,729,604 (GRCm39) probably null Het
Sympk T C 7: 18,783,397 (GRCm39) probably null Het
Tasor CGCGGCGGCGGCGGCGG CGCGGCGGCGGCGGCGGCGGCGG 14: 27,151,080 (GRCm39) probably benign Het
Tchh A T 3: 93,352,933 (GRCm39) Q791L unknown Het
Tmed11 T C 5: 108,934,031 (GRCm39) D55G probably benign Het
Tnrc18 T C 5: 142,719,319 (GRCm39) D1989G unknown Het
Utp20 A T 10: 88,644,979 (GRCm39) H582Q probably benign Het
Utrn A G 10: 12,317,762 (GRCm39) I554T probably damaging Het
Zfp1005 A T 2: 150,110,425 (GRCm39) R372* probably null Het
Zfp119a T C 17: 56,175,336 (GRCm39) E53G 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
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
R9702:Cd164 UTSW 10 41,404,818 (GRCm39) missense probably damaging 1.00
Z1176:Cd164 UTSW 10 41,395,561 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGGGCTGAAGACACAATG -3'
(R):5'- CGCTCAGCTAAGTCAACGTG -3'

Sequencing Primer
(F):5'- ACACAATGTCGGGCTCCTC -3'
(R):5'- GCTCAGCTAAGTCAACGTGAAGTTAC -3'
Posted On 2016-11-09