Incidental Mutation 'R7725:Cercam'
ID 595428
Institutional Source Beutler Lab
Gene Symbol Cercam
Ensembl Gene ENSMUSG00000039787
Gene Name cerebral endothelial cell adhesion molecule
Synonyms CerCAM, Ceecam1
MMRRC Submission 045781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7725 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 29759176-29772852 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) G to A at 29762574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047521] [ENSMUST00000134152] [ENSMUST00000154464]
AlphaFold A3KGW5
Predicted Effect probably null
Transcript: ENSMUST00000047521
SMART Domains Protein: ENSMUSP00000041622
Gene: ENSMUSG00000039787

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 probably benign
Transcript: ENSMUST00000134152
SMART Domains Protein: ENSMUSP00000115902
Gene: ENSMUSG00000039787

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154464
SMART Domains Protein: ENSMUSP00000119476
Gene: ENSMUSG00000039787

DomainStartEndE-ValueType
low complexity region 11 28 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa2 A T 9: 69,387,410 (GRCm39) K6N unknown Het
Arhgap20 T A 9: 51,743,050 (GRCm39) M296K possibly damaging Het
Bdh1 G A 16: 31,256,910 (GRCm39) V20I not run Het
Bop1 A G 15: 76,339,583 (GRCm39) I254T probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cct4 A G 11: 22,940,814 (GRCm39) K21E probably benign Het
Clip2 A T 5: 134,546,853 (GRCm39) Y238* probably null Het
Col19a1 A T 1: 24,309,525 (GRCm39) S1043T possibly damaging Het
Ctcf A G 8: 106,390,468 (GRCm39) Y25C probably damaging Het
Dennd4c C T 4: 86,704,330 (GRCm39) R282C probably benign Het
Eef1g T A 19: 8,955,427 (GRCm39) H425Q probably benign Het
Fam131b C T 6: 42,295,476 (GRCm39) A234T probably benign Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fam187b A G 7: 30,677,139 (GRCm39) D216G possibly damaging Het
Gabra1 A T 11: 42,026,270 (GRCm39) Y341N possibly damaging Het
Glb1l3 T A 9: 26,739,659 (GRCm39) probably null Het
Gm3667 T A 14: 18,271,599 (GRCm39) Q52L probably damaging Het
Gpr179 C T 11: 97,242,118 (GRCm39) R242H probably damaging Het
Gulo T C 14: 66,245,522 (GRCm39) Y24C probably damaging Het
Hectd4 A T 5: 121,358,680 (GRCm39) E49V unknown Het
Htra4 A G 8: 25,527,169 (GRCm39) S209P possibly damaging Het
Lmntd1 A G 6: 145,489,196 (GRCm39) S22P probably benign Het
Lypd8l A T 11: 58,499,325 (GRCm39) N164K probably benign Het
Med12l A G 3: 59,163,413 (GRCm39) K1347E probably damaging Het
Mrc1 C A 2: 14,284,788 (GRCm39) D592E probably benign Het
Muc15 A G 2: 110,562,143 (GRCm39) D193G probably damaging Het
Ncor2 A G 5: 125,100,630 (GRCm39) V1316A Het
Odad1 T A 7: 45,597,835 (GRCm39) S582T probably damaging Het
Or2t43 A G 11: 58,457,593 (GRCm39) Y193H probably damaging Het
Or2y10 A T 11: 49,455,359 (GRCm39) I204L probably benign Het
Or5t16 T C 2: 86,819,323 (GRCm39) I66V probably benign Het
Serpina6 A T 12: 103,614,936 (GRCm39) Y303* probably null Het
Shld2 T G 14: 33,990,661 (GRCm39) T82P possibly damaging Het
Shroom3 T C 5: 93,089,512 (GRCm39) L754P probably benign Het
Skint5 C A 4: 113,685,099 (GRCm39) L539F unknown Het
St3gal4 C A 9: 34,964,375 (GRCm39) R209L possibly damaging Het
Tex14 A C 11: 87,385,868 (GRCm39) T243P probably damaging Het
Ttc12 T A 9: 49,351,602 (GRCm39) M632L probably benign Het
Ttn T C 2: 76,738,116 (GRCm39) E4187G unknown Het
Txk G A 5: 72,864,900 (GRCm39) A379V probably damaging Het
Wdr43 A G 17: 71,923,338 (GRCm39) Y28C probably benign Het
Zfp1005 A G 2: 150,110,468 (GRCm39) Y386C unknown Het
Zfp40 A G 17: 23,397,251 (GRCm39) V82A probably benign Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign 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
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
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'- AGAAATGGTTAGCCCCTTCTC -3'
(R):5'- GCCTTGAAGCCTCAGGATCTATC -3'

Sequencing Primer
(F):5'- TAAGTGCACATGCCATGGTATG -3'
(R):5'- GGATCTATCCTCCCCCTGGG -3'
Posted On 2019-11-12