Incidental Mutation 'R4371:Hepacam2'
ID 325993
Institutional Source Beutler Lab
Gene Symbol Hepacam2
Ensembl Gene ENSMUSG00000044156
Gene Name HEPACAM family member 2
Synonyms
MMRRC Submission 041117-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R4371 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 3457202-3498319 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3486988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 123 (V123E)
Ref Sequence ENSEMBL: ENSMUSP00000058882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049985] [ENSMUST00000200854] [ENSMUST00000201607]
AlphaFold Q4VAH7
Predicted Effect probably damaging
Transcript: ENSMUST00000049985
AA Change: V123E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156
AA Change: V123E

DomainStartEndE-ValueType
IG 39 142 7.77e-1 SMART
IGc2 165 227 6.21e-9 SMART
IG 256 334 1.87e0 SMART
transmembrane domain 351 373 N/A INTRINSIC
low complexity region 420 437 N/A INTRINSIC
Predicted Effect
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184051
AA Change: V136E
Predicted Effect probably damaging
Transcript: ENSMUST00000200854
AA Change: V47E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144362
Gene: ENSMUSG00000044156
AA Change: V47E

DomainStartEndE-ValueType
IG_like 2 66 2.88e1 SMART
IGc2 89 151 6.21e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201276
Predicted Effect probably damaging
Transcript: ENSMUST00000201607
AA Change: V47E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143834
Gene: ENSMUSG00000044156
AA Change: V47E

DomainStartEndE-ValueType
IG_like 2 66 1.2e-1 SMART
IGc2 89 151 2.5e-11 SMART
Blast:IG 180 206 9e-11 BLAST
Meta Mutation Damage Score 0.5531 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Alox12b G A 11: 69,060,442 (GRCm39) R666H possibly damaging Het
Atp9a T C 2: 168,491,535 (GRCm39) T677A probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Brpf3 C T 17: 29,055,594 (GRCm39) A1181V probably damaging Het
C9 A G 15: 6,520,965 (GRCm39) D470G probably damaging Het
Camsap2 A G 1: 136,215,701 (GRCm39) F337L probably damaging Het
Cep152 G A 2: 125,454,967 (GRCm39) R278W probably damaging Het
Cfb T C 17: 35,079,290 (GRCm39) K287R probably damaging Het
Chfr G A 5: 110,284,034 (GRCm39) R36H probably damaging Het
Cyp4f14 T C 17: 33,128,232 (GRCm39) N261S probably benign Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Dzip3 A G 16: 48,763,818 (GRCm39) probably null Het
Emb A T 13: 117,405,466 (GRCm39) D296V probably damaging Het
Epha1 T C 6: 42,342,391 (GRCm39) Y319C probably damaging Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Gm6177 A T 1: 160,720,741 (GRCm39) noncoding transcript Het
Iqsec1 A G 6: 90,671,588 (GRCm39) S194P probably damaging Het
Kat6a T C 8: 23,401,945 (GRCm39) I438T possibly damaging Het
Kcnmb2 A G 3: 32,210,251 (GRCm39) probably null Het
Nbeal1 A T 1: 60,329,105 (GRCm39) K2174N possibly damaging Het
Ncapg G A 5: 45,835,797 (GRCm39) M409I probably benign Het
Ocstamp A G 2: 165,239,233 (GRCm39) S318P possibly damaging Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Pom121l2 T C 13: 22,166,409 (GRCm39) S227P probably benign Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Sptbn5 A G 2: 119,896,475 (GRCm39) C729R probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tfap4 A G 16: 4,369,863 (GRCm39) I4T probably damaging Het
Thrb C A 14: 18,030,275 (GRCm38) Q340K probably damaging Het
Tnc T C 4: 63,888,588 (GRCm39) Y1735C probably damaging Het
Ubr1 A T 2: 120,725,547 (GRCm39) probably null Het
Other mutations in Hepacam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01937:Hepacam2 APN 6 3,487,117 (GRCm39) missense probably benign 0.07
IGL01945:Hepacam2 APN 6 3,487,117 (GRCm39) missense probably benign 0.07
IGL02254:Hepacam2 APN 6 3,483,421 (GRCm39) missense probably benign 0.06
IGL02445:Hepacam2 APN 6 3,483,481 (GRCm39) missense probably damaging 1.00
IGL02546:Hepacam2 APN 6 3,483,568 (GRCm39) missense possibly damaging 0.93
IGL02620:Hepacam2 APN 6 3,487,280 (GRCm39) splice site probably benign
IGL02697:Hepacam2 APN 6 3,476,036 (GRCm39) missense possibly damaging 0.79
R0089:Hepacam2 UTSW 6 3,487,094 (GRCm39) missense probably damaging 0.96
R0208:Hepacam2 UTSW 6 3,467,505 (GRCm39) splice site probably benign
R0230:Hepacam2 UTSW 6 3,463,336 (GRCm39) missense probably benign 0.01
R0299:Hepacam2 UTSW 6 3,476,121 (GRCm39) missense probably damaging 1.00
R0499:Hepacam2 UTSW 6 3,476,121 (GRCm39) missense probably damaging 1.00
R0608:Hepacam2 UTSW 6 3,483,479 (GRCm39) missense possibly damaging 0.93
R1350:Hepacam2 UTSW 6 3,467,530 (GRCm39) nonsense probably null
R1663:Hepacam2 UTSW 6 3,483,439 (GRCm39) missense possibly damaging 0.76
R1749:Hepacam2 UTSW 6 3,483,379 (GRCm39) missense probably damaging 1.00
R1997:Hepacam2 UTSW 6 3,487,241 (GRCm39) missense probably damaging 1.00
R2146:Hepacam2 UTSW 6 3,463,378 (GRCm39) splice site probably benign
R3911:Hepacam2 UTSW 6 3,494,477 (GRCm39) start codon destroyed probably null 0.98
R4281:Hepacam2 UTSW 6 3,475,938 (GRCm39) missense probably damaging 0.98
R4290:Hepacam2 UTSW 6 3,487,237 (GRCm39) missense probably benign 0.01
R4794:Hepacam2 UTSW 6 3,475,933 (GRCm39) missense probably damaging 0.96
R4890:Hepacam2 UTSW 6 3,487,231 (GRCm39) missense probably damaging 0.96
R5330:Hepacam2 UTSW 6 3,483,377 (GRCm39) missense probably benign 0.00
R5331:Hepacam2 UTSW 6 3,483,377 (GRCm39) missense probably benign 0.00
R5677:Hepacam2 UTSW 6 3,466,142 (GRCm39) missense probably damaging 1.00
R5796:Hepacam2 UTSW 6 3,466,200 (GRCm39) splice site probably null
R5844:Hepacam2 UTSW 6 3,476,073 (GRCm39) missense probably damaging 0.99
R5979:Hepacam2 UTSW 6 3,476,149 (GRCm39) missense probably damaging 1.00
R6017:Hepacam2 UTSW 6 3,483,332 (GRCm39) missense probably damaging 1.00
R7460:Hepacam2 UTSW 6 3,487,199 (GRCm39) missense probably benign 0.20
R8458:Hepacam2 UTSW 6 3,483,358 (GRCm39) missense probably damaging 1.00
R8928:Hepacam2 UTSW 6 3,467,623 (GRCm39) critical splice donor site probably null
R9525:Hepacam2 UTSW 6 3,476,046 (GRCm39) missense probably benign 0.33
R9762:Hepacam2 UTSW 6 3,486,940 (GRCm39) missense probably damaging 1.00
Z1177:Hepacam2 UTSW 6 3,483,352 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- TGATGCAGGCTTTGAGAATTAC -3'
(R):5'- CAGTGCACTATGGCTTCCAC -3'

Sequencing Primer
(F):5'- CTTAATTCCTTCACAGTGGCAAGAGC -3'
(R):5'- TCTGACATCCAGATCATATGGCTG -3'
Posted On 2015-07-06