Incidental Mutation 'IGL03176:Cd164l2'
ID 411987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd164l2
Ensembl Gene ENSMUSG00000028865
Gene Name CD164 sialomucin-like 2
Synonyms 2310047N01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # IGL03176
Quality Score
Status
Chromosome 4
Chromosomal Location 132948120-132951865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132951565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 172 (I172T)
Ref Sequence ENSEMBL: ENSMUSP00000101530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105910]
AlphaFold Q9D6W7
Predicted Effect possibly damaging
Transcript: ENSMUST00000105910
AA Change: I172T

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101530
Gene: ENSMUSG00000028865
AA Change: I172T

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:MGC-24 53 125 1.8e-17 PFAM
Pfam:MGC-24 113 171 7.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218998
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 C A 1: 63,602,575 (GRCm39) P579Q probably damaging Het
Adam6a A G 12: 113,509,822 (GRCm39) T732A probably benign Het
Ahnak T A 19: 8,985,530 (GRCm39) N2271K possibly damaging Het
Ahnak T C 19: 8,979,813 (GRCm39) S366P probably damaging Het
Akr1a1 A G 4: 116,496,272 (GRCm39) L213S probably damaging Het
Ammecr1l T A 18: 31,905,102 (GRCm39) D114E possibly damaging Het
Casq2 G T 3: 102,033,970 (GRCm39) V167L possibly damaging Het
Clec4g C T 8: 3,768,441 (GRCm39) V97M possibly damaging Het
Dnah8 T A 17: 30,913,011 (GRCm39) N1068K probably benign Het
Epyc A G 10: 97,485,562 (GRCm39) M1V probably null Het
Eya3 A G 4: 132,439,233 (GRCm39) E437G possibly damaging Het
Fbln1 C T 15: 85,128,507 (GRCm39) T568I possibly damaging Het
Fcrl1 A T 3: 87,298,564 (GRCm39) N353I probably damaging Het
Gm10272 A T 10: 77,542,467 (GRCm39) H3L probably null Het
Gm15130 A G 2: 110,978,846 (GRCm39) S32P unknown Het
Gm20379 C A 13: 92,442,529 (GRCm39) probably benign Het
Igf2r A T 17: 12,935,559 (GRCm39) Y644N probably damaging Het
Krtap4-9 T C 11: 99,676,106 (GRCm39) probably benign Het
Man2c1 A G 9: 57,048,030 (GRCm39) N739D probably benign Het
Mcm5 C T 8: 75,836,481 (GRCm39) T49M possibly damaging Het
Otof C T 5: 30,562,520 (GRCm39) probably null Het
Ptgr2 C T 12: 84,354,668 (GRCm39) T283I probably damaging Het
Rhox4c G T X: 36,662,181 (GRCm39) G15V probably benign Het
Rnd1 A T 15: 98,568,569 (GRCm39) L203H probably damaging Het
Rnf186 A G 4: 138,695,231 (GRCm39) N257S probably benign Het
Rsf1 T C 7: 97,328,357 (GRCm39) probably benign Het
Ryr2 G A 13: 11,756,909 (GRCm39) Q1582* probably null Het
Sntg2 G A 12: 30,317,022 (GRCm39) probably benign Het
Spata31d1c A G 13: 65,184,825 (GRCm39) D789G probably benign Het
Strc A C 2: 121,202,661 (GRCm39) L1168R probably damaging Het
Tmtc3 A T 10: 100,301,993 (GRCm39) S319T possibly damaging Het
Vmn1r88 A T 7: 12,911,779 (GRCm39) D45V probably damaging Het
Vps13d A T 4: 144,801,533 (GRCm39) F3531I probably benign Het
Other mutations in Cd164l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1679:Cd164l2 UTSW 4 132,948,810 (GRCm39) missense probably benign 0.00
R4484:Cd164l2 UTSW 4 132,950,986 (GRCm39) missense probably damaging 1.00
R5215:Cd164l2 UTSW 4 132,948,789 (GRCm39) missense unknown
R5556:Cd164l2 UTSW 4 132,951,016 (GRCm39) missense probably damaging 0.98
R6257:Cd164l2 UTSW 4 132,948,345 (GRCm39) missense unknown
Posted On 2016-08-02