Incidental Mutation 'IGL02619:Cercam'
ID 300774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cercam
Ensembl Gene ENSMUSG00000039787
Gene Name cerebral endothelial cell adhesion molecule
Synonyms CerCAM, Ceecam1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02619
Quality Score
Status
Chromosome 2
Chromosomal Location 29759176-29772852 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29770686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 419 (N419S)
Ref Sequence ENSEMBL: ENSMUSP00000041622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047521]
AlphaFold A3KGW5
Predicted Effect probably benign
Transcript: ENSMUST00000047521
AA Change: N419S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000041622
Gene: ENSMUSG00000039787
AA Change: N419S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_tranf_2_4 37 157 2.6e-15 PFAM
Pfam:Glyco_transf_25 316 500 3.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155355
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 C T 1: 179,620,016 (GRCm39) G220E possibly damaging Het
Arhgef10l A G 4: 140,321,504 (GRCm39) I101T probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Camkk2 A T 5: 122,902,298 (GRCm39) C4S probably damaging Het
Ccdc174 T A 6: 91,876,538 (GRCm39) D458E possibly damaging Het
Clca3a2 T C 3: 144,512,083 (GRCm39) N551S probably damaging Het
Cldn18 T A 9: 99,580,988 (GRCm39) I87F probably damaging Het
Ctso T A 3: 81,848,836 (GRCm39) probably benign Het
Ddhd2 C A 8: 26,236,981 (GRCm39) probably null Het
Dscaml1 T A 9: 45,359,094 (GRCm39) Y118N probably damaging Het
Ece1 C T 4: 137,666,044 (GRCm39) A296V probably benign Het
Fbxo40 T A 16: 36,790,766 (GRCm39) I115F possibly damaging Het
Fkbp9 T A 6: 56,827,609 (GRCm39) N143K probably damaging Het
Foxk2 G T 11: 121,190,402 (GRCm39) probably benign Het
Ggnbp1 A G 17: 27,248,529 (GRCm39) K33E probably benign Het
Hace1 A T 10: 45,547,530 (GRCm39) probably benign Het
Hk3 A T 13: 55,162,107 (GRCm39) C133S probably damaging Het
Kbtbd3 C T 9: 4,331,252 (GRCm39) A542V probably damaging Het
Lrch2 A C X: 146,263,537 (GRCm39) V363G probably damaging Het
Lrch2 C T X: 146,302,131 (GRCm39) C264Y probably damaging Het
Lrrc56 C A 7: 140,787,546 (GRCm39) probably benign Het
Lrtm2 C T 6: 119,294,199 (GRCm39) V311M probably damaging Het
N4bp1 G T 8: 87,587,529 (GRCm39) Q470K probably benign Het
Naa15 A C 3: 51,367,552 (GRCm39) D575A probably benign Het
Ncaph A T 2: 126,969,456 (GRCm39) V69D probably damaging Het
Nlrp5 G A 7: 23,123,489 (GRCm39) probably null Het
Nmbr A G 10: 14,636,331 (GRCm39) D100G probably damaging Het
Ofcc1 C T 13: 40,250,553 (GRCm39) V588M possibly damaging Het
Or4b13 G T 2: 90,082,849 (GRCm39) T161N probably damaging Het
Or5p4 C A 7: 107,680,949 (GRCm39) probably benign Het
Osmr C A 15: 6,871,475 (GRCm39) R314M probably damaging Het
Pcdhb16 C T 18: 37,611,270 (GRCm39) Q77* probably null Het
Pglyrp4 G A 3: 90,642,955 (GRCm39) probably null Het
Ptprh A G 7: 4,552,498 (GRCm39) F922S probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rp1 T A 1: 4,418,673 (GRCm39) Q813L possibly damaging Het
Sgtb A G 13: 104,254,922 (GRCm39) N64S probably benign Het
Slc5a12 T C 2: 110,471,201 (GRCm39) V481A probably benign Het
Slitrk1 A G 14: 109,149,349 (GRCm39) V454A probably benign Het
Sntg2 C A 12: 30,317,025 (GRCm39) probably null Het
Synj1 C T 16: 90,770,933 (GRCm39) V499I probably damaging Het
Tmco1 T C 1: 167,153,597 (GRCm39) probably benign Het
Tmem38b T C 4: 53,848,871 (GRCm39) I92T probably damaging Het
Tmem9 T C 1: 135,955,145 (GRCm39) V93A probably benign Het
Ttn T A 2: 76,625,582 (GRCm39) R15080S possibly damaging Het
Ube2e3 T C 2: 78,749,065 (GRCm39) I138T probably damaging Het
Urgcp A G 11: 5,665,752 (GRCm39) I862T possibly damaging Het
Vmn1r68 A T 7: 10,261,603 (GRCm39) I165N probably benign Het
Washc4 G A 10: 83,394,717 (GRCm39) V316I possibly damaging Het
Zfp111 A T 7: 23,899,113 (GRCm39) L166Q possibly damaging Het
Zfyve1 A T 12: 83,597,718 (GRCm39) probably benign Het
Zscan18 A G 7: 12,508,793 (GRCm39) probably benign Het
Other mutations in Cercam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01885:Cercam APN 2 29,771,015 (GRCm39) missense probably damaging 1.00
IGL03088:Cercam APN 2 29,771,699 (GRCm39) splice site probably benign
I1329:Cercam UTSW 2 29,761,097 (GRCm39) missense probably damaging 1.00
P0042:Cercam UTSW 2 29,771,095 (GRCm39) missense probably damaging 1.00
R0086:Cercam UTSW 2 29,761,076 (GRCm39) missense probably damaging 1.00
R0829:Cercam UTSW 2 29,761,079 (GRCm39) missense probably damaging 0.98
R1442:Cercam UTSW 2 29,770,652 (GRCm39) missense probably benign
R1558:Cercam UTSW 2 29,766,251 (GRCm39) missense probably benign 0.35
R1997:Cercam UTSW 2 29,762,935 (GRCm39) missense probably benign 0.11
R4678:Cercam UTSW 2 29,759,689 (GRCm39) missense probably damaging 1.00
R4889:Cercam UTSW 2 29,771,845 (GRCm39) missense probably damaging 0.96
R4891:Cercam UTSW 2 29,759,283 (GRCm39) unclassified probably benign
R4967:Cercam UTSW 2 29,761,033 (GRCm39) critical splice acceptor site probably null
R5052:Cercam UTSW 2 29,765,639 (GRCm39) missense probably damaging 1.00
R5541:Cercam UTSW 2 29,765,641 (GRCm39) missense probably benign
R5650:Cercam UTSW 2 29,771,827 (GRCm39) missense probably damaging 1.00
R7072:Cercam UTSW 2 29,771,936 (GRCm39) missense probably benign 0.00
R7422:Cercam UTSW 2 29,762,892 (GRCm39) missense possibly damaging 0.81
R7585:Cercam UTSW 2 29,771,743 (GRCm39) missense probably damaging 1.00
R7725:Cercam UTSW 2 29,762,574 (GRCm39) critical splice acceptor site probably null
R7730:Cercam UTSW 2 29,762,574 (GRCm39) critical splice acceptor site probably null
R7747:Cercam UTSW 2 29,761,298 (GRCm39) missense probably benign 0.02
R8504:Cercam UTSW 2 29,771,829 (GRCm39) missense possibly damaging 0.86
R9010:Cercam UTSW 2 29,766,071 (GRCm39) missense possibly damaging 0.95
R9185:Cercam UTSW 2 29,766,033 (GRCm39) missense possibly damaging 0.53
RF016:Cercam UTSW 2 29,759,317 (GRCm39) missense unknown
Posted On 2015-04-16