Incidental Mutation 'R7076:Cd164'
ID 549228
Institutional Source Beutler Lab
Gene Symbol Cd164
Ensembl Gene ENSMUSG00000019818
Gene Name CD164 antigen
Synonyms A24, A115, MGC-24
MMRRC Submission 045171-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R7076 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 41395496-41407038 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41399193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 94 (E94G)
Ref Sequence ENSEMBL: ENSMUSP00000019962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019962] [ENSMUST00000186388]
AlphaFold Q9R0L9
Predicted Effect probably benign
Transcript: ENSMUST00000019962
AA Change: E94G

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000019962
Gene: ENSMUSG00000019818
AA Change: E94G

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 unknown
Transcript: ENSMUST00000186388
AA Change: N43D
Predicted Effect
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A G 8: 56,324,694 (GRCm39) C587R probably damaging Het
Adgrg7 T C 16: 56,562,769 (GRCm39) T523A probably damaging Het
Arrdc3 A T 13: 81,038,815 (GRCm39) K259M probably damaging Het
Becn1 A T 11: 101,186,150 (GRCm39) N151K probably benign Het
Cars2 C T 8: 11,579,649 (GRCm39) E270K probably damaging Het
Ccp110 C A 7: 118,331,628 (GRCm39) P943Q probably damaging Het
Ccser2 A G 14: 36,661,786 (GRCm39) I466T probably benign Het
Cdon C T 9: 35,415,446 (GRCm39) T1228I probably benign Het
Cubn C A 2: 13,311,091 (GRCm39) V3145L probably benign Het
Cubn T A 2: 13,311,092 (GRCm39) K3144N probably benign Het
Dchs1 A G 7: 105,411,078 (GRCm39) V1649A probably benign Het
Dgka A T 10: 128,569,452 (GRCm39) D153E probably damaging Het
Dip2b A G 15: 100,055,853 (GRCm39) probably null Het
Dnajc21 T C 15: 10,449,717 (GRCm39) T435A probably benign Het
F830016B08Rik A T 18: 60,433,543 (GRCm39) I209F probably damaging Het
Ghdc C A 11: 100,660,540 (GRCm39) S111I possibly damaging Het
Gm19965 T C 1: 116,749,005 (GRCm39) C229R Het
Gpm6a C T 8: 55,490,486 (GRCm39) T54I probably damaging Het
Gpr171 G T 3: 59,005,577 (GRCm39) A66E probably damaging Het
Grm7 A G 6: 111,335,113 (GRCm39) D508G probably benign Het
Has1 G A 17: 18,064,068 (GRCm39) R524C probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ighv3-8 A T 12: 114,286,402 (GRCm39) L7Q probably damaging Het
Ints10 A T 8: 69,249,403 (GRCm39) R78* probably null Het
Itpr1 A G 6: 108,365,257 (GRCm39) I903V probably benign Het
Lrp1 A G 10: 127,386,052 (GRCm39) probably null Het
Mki67 A G 7: 135,307,358 (GRCm39) V132A probably damaging Het
Myh4 A G 11: 67,143,999 (GRCm39) E1123G possibly damaging Het
Neurog3 A G 10: 61,969,359 (GRCm39) T40A probably benign Het
Nipsnap3b T A 4: 53,021,095 (GRCm39) probably null Het
Nr4a3 G A 4: 48,055,957 (GRCm39) V328I probably damaging Het
Or11g27 T A 14: 50,771,278 (GRCm39) Y136* probably null Het
Or2d36 T C 7: 106,747,236 (GRCm39) F238L probably damaging Het
Or52u1 A T 7: 104,237,430 (GRCm39) S140C probably damaging Het
Or5af2 G A 11: 58,707,990 (GRCm39) R52Q probably benign Het
Or5b124 G T 19: 13,611,244 (GRCm39) M256I possibly damaging Het
Or5p63 A T 7: 107,811,205 (GRCm39) V177D probably damaging Het
Osbpl5 A G 7: 143,263,577 (GRCm39) L102P probably benign Het
Ppl C T 16: 4,917,983 (GRCm39) R503Q probably damaging Het
Ppp2r2d T C 7: 138,478,326 (GRCm39) M321T possibly damaging Het
Prex1 T C 2: 166,475,302 (GRCm39) Y197C probably damaging Het
Prss32 A G 17: 24,072,895 (GRCm39) D42G possibly damaging Het
Ralgapa1 T C 12: 55,768,361 (GRCm39) E1210G possibly damaging Het
Sdr16c5 A G 4: 4,006,591 (GRCm39) C234R probably damaging Het
Slc23a4 A G 6: 34,933,819 (GRCm39) S95P probably damaging Het
Srp14 T C 2: 118,309,871 (GRCm39) T29A probably damaging Het
Tet2 T A 3: 133,172,784 (GRCm39) H1826L possibly damaging Het
Tfr2 A T 5: 137,581,836 (GRCm39) Y641F probably damaging Het
Tmco5b A G 2: 113,117,766 (GRCm39) N27D probably damaging Het
Tvp23a T C 16: 10,246,599 (GRCm39) D62G probably benign Het
Usp12 A G 5: 146,674,562 (GRCm39) F347S possibly damaging Het
Zfp407 A T 18: 84,576,601 (GRCm39) L1504Q probably damaging Het
Zfp524 A G 7: 5,020,895 (GRCm39) D141G possibly damaging Het
Zfp68 A G 5: 138,605,201 (GRCm39) I374T possibly damaging Het
Zfp758 C T 17: 22,594,137 (GRCm39) H208Y probably benign Het
Zfp804b T C 5: 6,819,751 (GRCm39) H1104R probably benign Het
Znrf2 T A 6: 54,819,680 (GRCm39) *75K probably null Het
Zzef1 T C 11: 72,790,385 (GRCm39) V2113A 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
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'- AGATCCTTGTGCATCCATCC -3'
(R):5'- TTACAGCTGAATCATGAAACCAGG -3'

Sequencing Primer
(F):5'- ATCCCTTCCAGAGTGCTAGG -3'
(R):5'- CTGAATCATGAAACCAGGAATTAAAC -3'
Posted On 2019-05-15