Incidental Mutation 'IGL02706:Habp2'
ID 304366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Habp2
Ensembl Gene ENSMUSG00000025075
Gene Name hyaluronic acid binding protein 2
Synonyms FSAP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02706
Quality Score
Status
Chromosome 19
Chromosomal Location 56275569-56309254 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 56298570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078284] [ENSMUST00000095948] [ENSMUST00000163502] [ENSMUST00000165522] [ENSMUST00000166049] [ENSMUST00000171341]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000078284
SMART Domains Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
EGF 70 103 4.66e-6 SMART
EGF 108 142 3.97e0 SMART
EGF 147 182 2.26e-4 SMART
KR 186 272 2.72e-39 SMART
Tryp_SPc 307 544 1.47e-90 SMART
Predicted Effect probably null
Transcript: ENSMUST00000095948
SMART Domains Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EGF 33 66 4.66e-6 SMART
EGF 71 105 3.97e0 SMART
EGF 110 145 2.26e-4 SMART
KR 149 235 2.72e-39 SMART
Tryp_SPc 270 507 1.47e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163502
SMART Domains Protein: ENSMUSP00000128964
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
KR 1 41 5.87e-6 SMART
Tryp_SPc 76 220 5.6e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165407
Predicted Effect probably benign
Transcript: ENSMUST00000165522
SMART Domains Protein: ENSMUSP00000130809
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
Pfam:Trypsin 41 106 6.4e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166049
SMART Domains Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
EGF 70 103 4.66e-6 SMART
EGF 108 142 3.97e0 SMART
EGF 147 182 2.26e-4 SMART
KR 186 272 2.72e-39 SMART
Tryp_SPc 302 539 1.47e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171341
SMART Domains Protein: ENSMUSP00000126235
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
EGF 70 103 4.66e-6 SMART
EGF 108 142 3.97e0 SMART
EGF 147 182 2.26e-4 SMART
KR 186 272 2.72e-39 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased lethality but increased liver fibrosis, inflammation and injury following bile duct ligation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,517,966 (GRCm39) E781G probably benign Het
Abcc8 C T 7: 45,816,345 (GRCm39) R265Q probably benign Het
Agtr1b A T 3: 20,370,027 (GRCm39) I193N probably benign Het
Atp6v1e2 A G 17: 87,252,362 (GRCm39) I12T probably damaging Het
Cacna1g T C 11: 94,347,818 (GRCm39) T757A probably damaging Het
Cldn15 A G 5: 137,003,685 (GRCm39) K200R probably benign Het
Dip2b G T 15: 100,113,192 (GRCm39) V1302F probably damaging Het
Dnajb6 T A 5: 29,957,421 (GRCm39) Y68N probably damaging Het
Dok1 T A 6: 83,009,315 (GRCm39) E179V probably damaging Het
Epha4 T C 1: 77,403,482 (GRCm39) T342A probably damaging Het
Etf1 A T 18: 35,064,690 (GRCm39) S6R possibly damaging Het
Fryl T C 5: 73,250,506 (GRCm39) I987V probably benign Het
Gba2 C T 4: 43,567,257 (GRCm39) G897S probably benign Het
Hapln1 G T 13: 89,753,578 (GRCm39) S248I possibly damaging Het
Hydin A G 8: 111,137,198 (GRCm39) D667G probably damaging Het
Kcnma1 T A 14: 23,359,222 (GRCm39) H1074L probably damaging Het
Kctd9 T C 14: 67,962,130 (GRCm39) probably null Het
L3mbtl4 A G 17: 68,793,914 (GRCm39) D306G probably damaging Het
Lgalsl T C 11: 20,780,090 (GRCm39) R49G probably damaging Het
Lpo C T 11: 87,708,599 (GRCm39) S133N probably benign Het
Lrp8 A T 4: 107,660,516 (GRCm39) R59* probably null Het
Mctp1 T C 13: 76,971,188 (GRCm39) F629S probably damaging Het
Med1 A G 11: 98,047,533 (GRCm39) probably benign Het
Nbea T C 3: 55,944,699 (GRCm39) H555R probably damaging Het
Nedd1 T C 10: 92,522,147 (GRCm39) H630R possibly damaging Het
Nr3c2 A T 8: 77,635,045 (GRCm39) probably null Het
Nubp2 A T 17: 25,102,171 (GRCm39) V267E probably benign Het
Oacyl A T 18: 65,882,792 (GRCm39) Y629F probably damaging Het
Or1n1b A G 2: 36,780,731 (GRCm39) I43T probably damaging Het
Or1x2 T A 11: 50,918,091 (GRCm39) H87Q probably damaging Het
Or5b119 A T 19: 13,457,462 (GRCm39) Y33* probably null Het
Pknox2 T C 9: 36,847,675 (GRCm39) H114R probably benign Het
Ppp2r1b A G 9: 50,790,134 (GRCm39) D564G possibly damaging Het
Ppp3ca T G 3: 136,611,079 (GRCm39) N367K possibly damaging Het
Ptprn2 T C 12: 116,852,518 (GRCm39) V525A probably damaging Het
Reps1 T G 10: 17,998,763 (GRCm39) probably benign Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Sipa1l1 A G 12: 82,444,207 (GRCm39) I973V possibly damaging Het
Ssh2 T A 11: 77,344,232 (GRCm39) V739D possibly damaging Het
Tbc1d24 A G 17: 24,404,395 (GRCm39) F250L probably benign Het
Ube3a T A 7: 58,921,881 (GRCm39) H84Q possibly damaging Het
Usp34 T C 11: 23,338,659 (GRCm39) probably benign Het
Zdhhc8 G T 16: 18,042,758 (GRCm39) L481I probably damaging Het
Zfp574 A G 7: 24,780,790 (GRCm39) H604R probably damaging Het
Zfp945 A T 17: 23,076,256 (GRCm39) M63K probably damaging Het
Other mutations in Habp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Habp2 APN 19 56,306,264 (GRCm39) missense probably damaging 1.00
IGL01113:Habp2 APN 19 56,298,548 (GRCm39) missense probably benign 0.13
IGL01737:Habp2 APN 19 56,304,739 (GRCm39) missense probably benign 0.00
IGL02174:Habp2 APN 19 56,300,169 (GRCm39) missense probably damaging 0.96
IGL02250:Habp2 APN 19 56,297,361 (GRCm39) missense probably benign 0.00
IGL02953:Habp2 APN 19 56,302,664 (GRCm39) critical splice donor site probably null
IGL02986:Habp2 APN 19 56,299,624 (GRCm39) missense probably benign 0.25
IGL03010:Habp2 APN 19 56,299,655 (GRCm39) critical splice donor site probably null
R0415:Habp2 UTSW 19 56,306,149 (GRCm39) unclassified probably benign
R0483:Habp2 UTSW 19 56,304,864 (GRCm39) unclassified probably benign
R0627:Habp2 UTSW 19 56,302,478 (GRCm39) missense probably damaging 1.00
R1188:Habp2 UTSW 19 56,300,154 (GRCm39) missense probably benign 0.39
R1880:Habp2 UTSW 19 56,306,260 (GRCm39) missense possibly damaging 0.83
R2214:Habp2 UTSW 19 56,306,249 (GRCm39) missense possibly damaging 0.88
R2473:Habp2 UTSW 19 56,276,464 (GRCm39) missense possibly damaging 0.92
R2869:Habp2 UTSW 19 56,276,423 (GRCm39) unclassified probably benign
R2871:Habp2 UTSW 19 56,276,423 (GRCm39) unclassified probably benign
R3917:Habp2 UTSW 19 56,299,611 (GRCm39) missense probably damaging 1.00
R3969:Habp2 UTSW 19 56,300,133 (GRCm39) missense probably damaging 1.00
R4014:Habp2 UTSW 19 56,308,054 (GRCm39) missense probably benign 0.04
R4853:Habp2 UTSW 19 56,299,623 (GRCm39) splice site probably null
R5835:Habp2 UTSW 19 56,295,218 (GRCm39) missense probably benign 0.16
R6270:Habp2 UTSW 19 56,295,295 (GRCm39) missense possibly damaging 0.93
R6390:Habp2 UTSW 19 56,295,255 (GRCm39) missense possibly damaging 0.63
R7110:Habp2 UTSW 19 56,299,596 (GRCm39) nonsense probably null
R7268:Habp2 UTSW 19 56,302,518 (GRCm39) missense probably damaging 1.00
R7456:Habp2 UTSW 19 56,307,957 (GRCm39) missense probably damaging 1.00
R7583:Habp2 UTSW 19 56,300,236 (GRCm39) missense probably benign 0.03
R8021:Habp2 UTSW 19 56,302,485 (GRCm39) missense probably benign 0.04
R8354:Habp2 UTSW 19 56,301,388 (GRCm39) nonsense probably null
R8383:Habp2 UTSW 19 56,304,768 (GRCm39) missense probably damaging 1.00
R8813:Habp2 UTSW 19 56,295,216 (GRCm39) missense probably benign 0.08
R9140:Habp2 UTSW 19 56,307,934 (GRCm39) missense probably benign 0.03
R9367:Habp2 UTSW 19 56,304,781 (GRCm39) missense probably damaging 1.00
R9515:Habp2 UTSW 19 56,295,253 (GRCm39) missense probably benign 0.00
Z1176:Habp2 UTSW 19 56,306,192 (GRCm39) missense probably damaging 1.00
Z1177:Habp2 UTSW 19 56,307,985 (GRCm39) frame shift probably null
Posted On 2015-04-16