Incidental Mutation 'R0086:Cercam'
ID 19876
Institutional Source Beutler Lab
Gene Symbol Cercam
Ensembl Gene ENSMUSG00000039787
Gene Name cerebral endothelial cell adhesion molecule
Synonyms CerCAM, Ceecam1
MMRRC Submission 038373-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0086 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 29759176-29772852 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29761076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 42 (L42P)
Ref Sequence ENSEMBL: ENSMUSP00000119476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047521] [ENSMUST00000134152] [ENSMUST00000154464]
AlphaFold A3KGW5
Predicted Effect probably damaging
Transcript: ENSMUST00000047521
AA Change: L77P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041622
Gene: ENSMUSG00000039787
AA Change: L77P

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: ENSMUST00000047607
SMART Domains Protein: ENSMUSP00000047152
Gene: ENSMUSG00000039798

DomainStartEndE-ValueType
low complexity region 23 32 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000134152
AA Change: L125P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115902
Gene: ENSMUSG00000039787
AA Change: L125P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153863
Predicted Effect probably damaging
Transcript: ENSMUST00000154464
AA Change: L42P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119476
Gene: ENSMUSG00000039787
AA Change: L42P

DomainStartEndE-ValueType
low complexity region 11 28 N/A INTRINSIC
Meta Mutation Damage Score 0.9308 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.6%
  • 20x: 86.6%
Validation Efficiency 96% (91/95)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,946,802 (GRCm39) V233D probably benign Het
Abcg8 T C 17: 85,000,199 (GRCm39) V252A probably damaging Het
Adam39 C T 8: 41,279,397 (GRCm39) T596I possibly damaging Het
Agap2 C A 10: 126,923,751 (GRCm39) probably null Het
Ap4b1 T G 3: 103,722,176 (GRCm39) V50G probably damaging Het
Atp13a1 T A 8: 70,250,424 (GRCm39) I381N possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Birc6 T C 17: 74,900,161 (GRCm39) V1113A possibly damaging Het
C1galt1 T A 6: 7,867,051 (GRCm39) probably benign Het
Capza2 A G 6: 17,660,773 (GRCm39) K158E probably damaging Het
Cenpe C T 3: 134,970,185 (GRCm39) probably benign Het
Cfap54 T C 10: 92,864,456 (GRCm39) E807G possibly damaging Het
Cog6 A G 3: 52,900,991 (GRCm39) V157A probably damaging Het
Cts6 A T 13: 61,344,271 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,357 (GRCm39) I15F unknown Het
Dock7 A T 4: 98,833,381 (GRCm39) V1970D probably damaging Het
Exph5 A G 9: 53,249,230 (GRCm39) D73G possibly damaging Het
Gjc2 A T 11: 59,067,672 (GRCm39) M270K probably benign Het
Gns G A 10: 121,227,378 (GRCm39) D463N probably damaging Het
Hoxd8 G T 2: 74,536,276 (GRCm39) G129W probably damaging Het
Ina A G 19: 47,012,030 (GRCm39) T483A possibly damaging Het
Lmod3 T A 6: 97,224,306 (GRCm39) Q505L probably damaging Het
Map3k13 A G 16: 21,732,975 (GRCm39) N526D probably damaging Het
Map3k2 A T 18: 32,351,521 (GRCm39) I435F probably damaging Het
Mfsd6l A G 11: 68,447,391 (GRCm39) T81A probably benign Het
Micall1 T C 15: 79,009,689 (GRCm39) probably benign Het
Mkrn2 G T 6: 115,590,296 (GRCm39) M217I possibly damaging Het
Mtrex G T 13: 113,063,862 (GRCm39) F10L probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Ncapg A G 5: 45,834,086 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,972 (GRCm39) C530Y probably damaging Het
Numb T C 12: 83,842,704 (GRCm39) T442A probably damaging Het
Oip5 C T 2: 119,448,410 (GRCm39) probably benign Het
Or1j14 A T 2: 36,417,462 (GRCm39) I13F possibly damaging Het
Or4c119 C T 2: 88,986,820 (GRCm39) R233H probably benign Het
Or51k1 A G 7: 103,661,261 (GRCm39) I216T probably benign Het
Or8g22 T C 9: 38,958,191 (GRCm39) T175A probably benign Het
Pcnx1 T C 12: 82,038,832 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,419,404 (GRCm39) N2956K possibly damaging Het
Plcl1 T A 1: 55,754,742 (GRCm39) W1030R probably damaging Het
Polr2i G A 7: 29,932,511 (GRCm39) V73M probably damaging Het
Prr14l T A 5: 32,988,903 (GRCm39) probably benign Het
Pxdn G T 12: 30,052,418 (GRCm39) R865L possibly damaging Het
Scnn1a T C 6: 125,319,550 (GRCm39) probably benign Het
Shkbp1 G T 7: 27,051,451 (GRCm39) H203N probably benign Het
Slc22a14 C T 9: 119,051,804 (GRCm39) probably benign Het
Snap29 C A 16: 17,246,100 (GRCm39) T240K probably damaging Het
Sp2 C A 11: 96,848,253 (GRCm39) G457C probably damaging Het
Ssr2 C T 3: 88,484,187 (GRCm39) probably benign Het
Synpo2 A T 3: 122,910,753 (GRCm39) C297* probably null Het
Tpm3 T A 3: 89,997,399 (GRCm39) probably benign Het
Trmt6 CTG C 2: 132,650,937 (GRCm39) probably benign Het
Trp63 T C 16: 25,689,837 (GRCm39) Y431H probably damaging Het
Tuba3b T A 6: 145,566,886 (GRCm39) C376S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Ulk1 G A 5: 110,935,573 (GRCm39) probably benign Het
Usp24 T C 4: 106,249,557 (GRCm39) S1425P probably damaging Het
Xdh T C 17: 74,191,433 (GRCm39) I1335V probably benign Het
Zmynd15 T C 11: 70,355,058 (GRCm39) Y352H probably damaging Het
Other mutations in Cercam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01885:Cercam APN 2 29,771,015 (GRCm39) missense probably damaging 1.00
IGL02619:Cercam APN 2 29,770,686 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- CGTGGCAGGTGCAATCTTTAAGCTC -3'
(R):5'- TTACCAGGATGTAGTCAGCTCCCC -3'

Sequencing Primer
(F):5'- aggggcttgcttgatgtg -3'
(R):5'- AAAGGCCAGTGCTTCCTG -3'
Posted On 2013-04-11