Incidental Mutation 'R5979:Hepacam2'
ID 481303
Institutional Source Beutler Lab
Gene Symbol Hepacam2
Ensembl Gene ENSMUSG00000044156
Gene Name HEPACAM family member 2
Synonyms
MMRRC Submission 044161-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R5979 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 3457202-3498319 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3476149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 183 (F183I)
Ref Sequence ENSEMBL: ENSMUSP00000143834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049985] [ENSMUST00000201607]
AlphaFold Q4VAH7
Predicted Effect probably damaging
Transcript: ENSMUST00000049985
AA Change: F259I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156
AA Change: F259I

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 noncoding transcript
Transcript: ENSMUST00000201276
Predicted Effect probably damaging
Transcript: ENSMUST00000201607
AA Change: F183I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143834
Gene: ENSMUSG00000044156
AA Change: F183I

DomainStartEndE-ValueType
IG_like 2 66 1.2e-1 SMART
IGc2 89 151 2.5e-11 SMART
Blast:IG 180 206 9e-11 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency 100% (87/87)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 A G 2: 155,364,029 (GRCm39) I103V possibly damaging Het
Adam3 T C 8: 25,167,383 (GRCm39) N36S probably benign Het
Adamts3 A G 5: 90,009,528 (GRCm39) V45A probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Agtpbp1 A T 13: 59,681,860 (GRCm39) L69* probably null Het
Alkbh5 T A 11: 60,429,517 (GRCm39) I90N probably damaging Het
Alx1 T C 10: 102,858,120 (GRCm39) Y193C probably damaging Het
Ankrd11 T G 8: 123,619,139 (GRCm39) D1571A probably damaging Het
Brd4 T C 17: 32,417,700 (GRCm39) D124G probably benign Het
C2cd2 G A 16: 97,676,418 (GRCm39) T443I probably benign Het
Casp8 A T 1: 58,868,071 (GRCm39) M171L probably benign Het
Cd200r4 G A 16: 44,653,295 (GRCm39) V22I probably benign Het
Cdcp2 A G 4: 106,962,478 (GRCm39) Y217C probably damaging Het
Cfh C A 1: 140,046,409 (GRCm39) V556F possibly damaging Het
Chka T G 19: 3,934,513 (GRCm39) I182M probably damaging Het
Cope T C 8: 70,755,193 (GRCm39) probably null Het
Coq10b T C 1: 55,092,077 (GRCm39) V15A probably benign Het
Cpne9 T A 6: 113,270,710 (GRCm39) S309T probably benign Het
Daam2 T A 17: 49,766,232 (GRCm39) H992L possibly damaging Het
Dctn3 T C 4: 41,715,393 (GRCm39) probably null Het
Dhx35 G T 2: 158,684,789 (GRCm39) R536L probably benign Het
Dnah8 G T 17: 31,034,638 (GRCm39) E4186* probably null Het
Dnah9 A G 11: 65,725,307 (GRCm39) L4282P probably damaging Het
Dpp10 A G 1: 123,312,012 (GRCm39) probably null Het
Dst T A 1: 34,199,453 (GRCm39) probably benign Het
Ehbp1 C A 11: 22,101,887 (GRCm39) V214L probably benign Het
Fam131b T C 6: 42,298,905 (GRCm39) D25G probably damaging Het
Fbxl13 T A 5: 21,787,089 (GRCm39) I283F probably damaging Het
Gabrr3 T G 16: 59,254,931 (GRCm39) N205K possibly damaging Het
Got1l1 C T 8: 27,687,951 (GRCm39) probably null Het
Gprin1 G A 13: 54,887,791 (GRCm39) A161V probably benign Het
Hmx2 A G 7: 131,156,279 (GRCm39) T82A probably benign Het
Igsf10 C T 3: 59,243,894 (GRCm39) E147K probably damaging Het
Kndc1 G A 7: 139,519,740 (GRCm39) A1700T probably benign Het
Knl1 T C 2: 118,899,841 (GRCm39) V514A possibly damaging Het
Lama2 T C 10: 27,111,728 (GRCm39) D764G probably damaging Het
Lgi3 G A 14: 70,773,900 (GRCm39) R358H probably damaging Het
Limd1 G T 9: 123,308,479 (GRCm39) Q59H possibly damaging Het
Lrrk2 A G 15: 91,657,148 (GRCm39) Y1814C possibly damaging Het
Lysmd3 G A 13: 81,813,393 (GRCm39) probably null Het
Mroh7 T C 4: 106,578,123 (GRCm39) N185S probably benign Het
Muc2 G A 7: 141,305,143 (GRCm39) G149D probably damaging Het
Muc2 A G 7: 141,283,493 (GRCm39) probably null Het
Nlrp3 T C 11: 59,439,797 (GRCm39) F458S probably benign Het
Nop58 A T 1: 59,741,990 (GRCm39) D173V probably damaging Het
Nrxn1 C T 17: 91,395,631 (GRCm39) R175H possibly damaging Het
Nxpe4 A G 9: 48,307,862 (GRCm39) N322S probably benign Het
Ocstamp A G 2: 165,239,467 (GRCm39) S240P probably damaging Het
Or10a5 G A 7: 106,635,543 (GRCm39) M60I probably damaging Het
Or2j3 T C 17: 38,616,083 (GRCm39) K90E probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or9e1 A G 11: 58,732,666 (GRCm39) H242R probably damaging Het
Ovch2 G A 7: 107,393,595 (GRCm39) T177I possibly damaging Het
Parn A C 16: 13,424,035 (GRCm39) L454R probably damaging Het
Pcdhb12 T A 18: 37,571,044 (GRCm39) L730Q possibly damaging Het
Phf3 G T 1: 30,844,827 (GRCm39) F1377L probably damaging Het
Pign G T 1: 105,516,999 (GRCm39) S542R probably benign Het
Prex2 G T 1: 11,202,596 (GRCm39) V502F probably damaging Het
Psmd1 A T 1: 86,017,775 (GRCm39) I529F possibly damaging Het
Ptafr A G 4: 132,306,616 (GRCm39) E2G probably benign Het
R3hdm1 A G 1: 128,138,960 (GRCm39) N380S probably benign Het
Rbm12 A C 2: 155,939,679 (GRCm39) probably benign Het
Rgl1 A G 1: 152,433,244 (GRCm39) Y174H probably damaging Het
Rps6kc1 A G 1: 190,532,632 (GRCm39) S457P probably damaging Het
Sall4 A T 2: 168,592,263 (GRCm39) S964T probably benign Het
Sart1 T A 19: 5,431,251 (GRCm39) I681F probably damaging Het
Serinc5 T C 13: 92,797,644 (GRCm39) L49P probably benign Het
Serpinb9e T C 13: 33,439,036 (GRCm39) V154A probably benign Het
Skic2 A T 17: 35,060,439 (GRCm39) N851K probably benign Het
Smox G A 2: 131,358,334 (GRCm39) V136I probably damaging Het
Sspo C T 6: 48,440,627 (GRCm39) T1747I probably benign Het
Swt1 A T 1: 151,283,339 (GRCm39) D339E possibly damaging Het
Synpo2 A G 3: 122,911,060 (GRCm39) L195P probably damaging Het
Syt7 G T 19: 10,420,843 (GRCm39) G414W probably damaging Het
Tmem186 G A 16: 8,454,024 (GRCm39) T79I probably damaging Het
Tmem39a A T 16: 38,396,106 (GRCm39) N113I probably damaging Het
Trim14 C T 4: 46,507,239 (GRCm39) V326M probably damaging Het
Trim58 A G 11: 58,536,909 (GRCm39) E234G probably damaging Het
Ttr T C 18: 20,803,059 (GRCm39) L75P probably damaging Het
Ubr1 C T 2: 120,776,863 (GRCm39) V293I probably benign Het
Vmn1r91 T A 7: 19,835,990 (GRCm39) V303E probably benign Het
Vmn2r30 A C 7: 7,315,334 (GRCm39) I833S probably damaging Het
Zfp131 G T 13: 120,237,982 (GRCm39) N125K probably benign Het
Zfp169 A T 13: 48,644,516 (GRCm39) probably benign Het
Zfp213 C A 17: 23,776,885 (GRCm39) E386* 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
R4371:Hepacam2 UTSW 6 3,486,988 (GRCm39) missense probably damaging 1.00
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
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'- GTTGTAAGCACAGCACACATAG -3'
(R):5'- TGGGGCTTTAAATGAGGACC -3'

Sequencing Primer
(F):5'- ACACATAGTCAGCTGTCTTCTGGG -3'
(R):5'- GGCTTTAAATGAGGACCTATTTGCTC -3'
Posted On 2017-06-26