Incidental Mutation 'R8513:Hepacam'
ID 655987
Institutional Source Beutler Lab
Gene Symbol Hepacam
Ensembl Gene ENSMUSG00000046240
Gene Name hepatocyte cell adhesion molecule
Synonyms Glialcam, 2900042E01Rik
MMRRC Submission 067889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R8513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 37278652-37297868 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37291930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 86 (E86G)
Ref Sequence ENSEMBL: ENSMUSP00000054105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051839] [ENSMUST00000215951]
AlphaFold Q640R3
Predicted Effect probably benign
Transcript: ENSMUST00000051839
AA Change: E86G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000054105
Gene: ENSMUSG00000046240
AA Change: E86G

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
IG 40 142 1e-3 SMART
IGc2 159 224 1.48e-6 SMART
transmembrane domain 241 263 N/A INTRINSIC
low complexity region 264 274 N/A INTRINSIC
low complexity region 337 356 N/A INTRINSIC
low complexity region 358 372 N/A INTRINSIC
low complexity region 379 396 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215951
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null allele display myelin vacuolization that progresses with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoe C A 7: 19,430,565 (GRCm39) G226W probably damaging Het
Armc9 T C 1: 86,090,405 (GRCm39) F67L probably damaging Het
Bsn T C 9: 107,991,709 (GRCm39) I1348V possibly damaging Het
Cdc73 C A 1: 143,493,129 (GRCm39) E402* probably null Het
Coro2a ACCAGAAGAGCCATCCAG ACCAG 4: 46,544,117 (GRCm39) probably null Het
Cpt2 G A 4: 107,764,123 (GRCm39) A547V probably damaging Het
Cpxm2 A T 7: 131,745,431 (GRCm39) H131Q probably benign Het
Ctdp1 G A 18: 80,492,678 (GRCm39) L606F possibly damaging Het
Dot1l T C 10: 80,627,260 (GRCm39) S1494P possibly damaging Het
Evpl C T 11: 116,120,570 (GRCm39) probably null Het
Fgd3 T C 13: 49,417,400 (GRCm39) T688A probably benign Het
Galnt3 A T 2: 65,924,064 (GRCm39) C401* probably null Het
Gml2 C G 15: 74,696,004 (GRCm39) P133A probably damaging Het
Ilf3 A G 9: 21,299,932 (GRCm39) E39G possibly damaging Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Kiz A G 2: 146,712,684 (GRCm39) probably null Het
Myo1e T A 9: 70,227,370 (GRCm39) L147H probably damaging Het
Naa15 T A 3: 51,367,444 (GRCm39) V539E probably damaging Het
Nlrp6 A C 7: 140,502,743 (GRCm39) D283A possibly damaging Het
Ntf5 A G 7: 45,065,179 (GRCm39) T104A probably damaging Het
Or1e28-ps1 A G 11: 73,615,148 (GRCm39) V234A unknown Het
Pacsin3 A C 2: 91,093,150 (GRCm39) N214T probably benign Het
Pcdha6 T C 18: 37,102,229 (GRCm39) I474T probably damaging Het
Pcdhgb1 A G 18: 37,813,581 (GRCm39) Y24C probably damaging Het
Pde2a A T 7: 101,158,972 (GRCm39) N749Y probably damaging Het
Ptpn3 G A 4: 57,270,085 (GRCm39) R26* probably null Het
Rab7 T C 6: 87,981,250 (GRCm39) Y144C probably benign Het
Ralgps1 T C 2: 33,226,626 (GRCm39) S22G probably damaging Het
Setdb2 G A 14: 59,639,839 (GRCm39) T668M probably damaging Het
Slit2 T A 5: 48,382,050 (GRCm39) C510* probably null Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spata2l T C 8: 123,960,438 (GRCm39) M284V probably benign Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
Stab1 C A 14: 30,871,747 (GRCm39) probably null Het
Tmem184b A T 15: 79,254,123 (GRCm39) S142T probably benign Het
Tmem201 A T 4: 149,812,380 (GRCm39) M312K probably damaging Het
Tpp1 A T 7: 105,398,786 (GRCm39) D214E possibly damaging Het
Trav7-2 C T 14: 53,628,478 (GRCm39) S72F probably damaging Het
Vmn1r37 A G 6: 66,708,820 (GRCm39) T149A probably benign Het
Zfp512 T C 5: 31,637,425 (GRCm39) S505P probably damaging Het
Zfp942 T C 17: 22,147,282 (GRCm39) D449G probably benign Het
Other mutations in Hepacam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01844:Hepacam APN 9 37,291,912 (GRCm39) missense probably damaging 1.00
R0924:Hepacam UTSW 9 37,295,224 (GRCm39) splice site probably benign
R1659:Hepacam UTSW 9 37,291,954 (GRCm39) missense probably benign 0.08
R1748:Hepacam UTSW 9 37,295,189 (GRCm39) missense possibly damaging 0.90
R4932:Hepacam UTSW 9 37,293,060 (GRCm39) missense probably damaging 1.00
R5587:Hepacam UTSW 9 37,295,980 (GRCm39) missense probably damaging 0.99
R5738:Hepacam UTSW 9 37,294,721 (GRCm39) missense possibly damaging 0.83
R5809:Hepacam UTSW 9 37,296,101 (GRCm39) missense possibly damaging 0.49
R6017:Hepacam UTSW 9 37,292,056 (GRCm39) missense probably benign 0.00
R6825:Hepacam UTSW 9 37,278,976 (GRCm39) missense possibly damaging 0.67
R7420:Hepacam UTSW 9 37,292,005 (GRCm39) missense probably benign 0.00
R7825:Hepacam UTSW 9 37,296,064 (GRCm39) missense probably benign 0.03
R8140:Hepacam UTSW 9 37,295,167 (GRCm39) missense probably benign
R8437:Hepacam UTSW 9 37,296,006 (GRCm39) missense probably damaging 1.00
R8547:Hepacam UTSW 9 37,279,049 (GRCm39) missense probably benign 0.12
R8746:Hepacam UTSW 9 37,293,030 (GRCm39) missense probably damaging 1.00
R9169:Hepacam UTSW 9 37,293,693 (GRCm39) missense probably damaging 1.00
R9196:Hepacam UTSW 9 37,279,052 (GRCm39) missense probably benign 0.00
X0024:Hepacam UTSW 9 37,292,896 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- AATGGGCCTCTGTTTGCAG -3'
(R):5'- TAGTCCCAGTCTGGTTCTGC -3'

Sequencing Primer
(F):5'- TGTTTGCAGTCCCCCTGGAG -3'
(R):5'- GAGTGCTTTACCATCCACGGTG -3'
Posted On 2020-10-20