Incidental Mutation 'R9196:Hepacam'
ID 697951
Institutional Source Beutler Lab
Gene Symbol Hepacam
Ensembl Gene ENSMUSG00000046240
Gene Name hepatocyte cell adhesion molecule
Synonyms Glialcam, 2900042E01Rik
MMRRC Submission 068955-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R9196 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 37278652-37297868 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37279052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 27 (Q27L)
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: Q27L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000054105
Gene: ENSMUSG00000046240
AA Change: Q27L

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 unknown
Transcript: ENSMUST00000215951
AA Change: Q27L
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 92% (35/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T C 5: 24,605,644 (GRCm39) L176P probably benign Het
Abtb2 A T 2: 103,513,647 (GRCm39) H352L possibly damaging Het
Adgrf5 T C 17: 43,755,995 (GRCm39) V651A possibly damaging Het
Cc2d1b T A 4: 108,485,134 (GRCm39) L519Q probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cenpn G A 8: 117,658,344 (GRCm39) D97N probably damaging Het
Cfap54 A G 10: 92,873,753 (GRCm39) C576R probably benign Het
Col8a1 A T 16: 57,447,730 (GRCm39) D593E unknown Het
Dsel C T 1: 111,787,863 (GRCm39) E891K probably benign Het
Duox1 T C 2: 122,150,689 (GRCm39) Y255H probably benign Het
Fzd6 C A 15: 38,895,102 (GRCm39) L423M probably damaging Het
Fzd6 T G 15: 38,895,103 (GRCm39) L423R probably damaging Het
Galntl6 G T 8: 58,415,461 (GRCm39) L231I probably damaging Het
Grm5 T C 7: 87,723,518 (GRCm39) Y603H probably damaging Het
Hibadh C T 6: 52,525,865 (GRCm39) V262I probably damaging Het
Hs3st1 T A 5: 39,771,962 (GRCm39) D227V probably damaging Het
Inpp1 A G 1: 52,833,778 (GRCm39) L106P probably damaging Het
Itprid1 A T 6: 55,952,613 (GRCm39) Q852L probably damaging Het
Jmy T A 13: 93,601,209 (GRCm39) D399V probably damaging Het
Krt23 A T 11: 99,371,855 (GRCm39) I332N probably benign Het
Lrrc23 T C 6: 124,755,189 (GRCm39) K116R possibly damaging Het
Myo10 T A 15: 25,805,716 (GRCm39) I1699N probably damaging Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Neto1 A T 18: 86,413,965 (GRCm39) probably benign Het
Nlrp9a T A 7: 26,258,158 (GRCm39) L592Q probably damaging Het
Nol10 A G 12: 17,455,316 (GRCm39) Q439R probably benign Het
Pcbp3 A G 10: 76,621,003 (GRCm39) S216P probably damaging Het
Pcdhb20 T A 18: 37,638,024 (GRCm39) H183Q probably benign Het
Reln A C 5: 22,357,471 (GRCm39) S198R probably damaging Het
Rtn4 T C 11: 29,658,471 (GRCm39) V875A probably benign Het
Skic2 T C 17: 35,068,877 (GRCm39) S41G probably benign Het
Sorbs2 A G 8: 46,258,864 (GRCm39) R1134G probably benign Het
Trpc4 A G 3: 54,129,872 (GRCm39) S213G probably damaging Het
Unc79 A G 12: 103,078,613 (GRCm39) I1593V probably benign Het
Uspl1 T C 5: 149,151,349 (GRCm39) S850P probably benign Het
Xrra1 T C 7: 99,563,699 (GRCm39) probably null Het
Ythdc2 T A 18: 44,988,464 (GRCm39) F717L probably damaging Het
Zfp606 T A 7: 12,227,935 (GRCm39) C685* probably null Het
Zfp764l1 T C 7: 126,990,761 (GRCm39) T409A 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
R8513:Hepacam UTSW 9 37,291,930 (GRCm39) missense probably benign 0.01
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
X0024:Hepacam UTSW 9 37,292,896 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- CAGAGAAACTCCGAGTGGTAC -3'
(R):5'- TAATGTACTGAATGCCGTGGG -3'

Sequencing Primer
(F):5'- CTCCGAGTGGTACAAAGGGAC -3'
(R):5'- AAAGTCATGCAGCCTTTCGG -3'
Posted On 2022-02-07