Incidental Mutation 'IGL03177:Hapln2'
ID412040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hapln2
Ensembl Gene ENSMUSG00000004894
Gene Namehyaluronan and proteoglycan link protein 2
Synonyms4930401E20Rik, Bral1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL03177
Quality Score
Status
Chromosome3
Chromosomal Location88021750-88027583 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 88022771 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 266 (C266F)
Ref Sequence ENSEMBL: ENSMUSP00000005014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005014] [ENSMUST00000160150]
Predicted Effect probably damaging
Transcript: ENSMUST00000005014
AA Change: C266F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005014
Gene: ENSMUSG00000004894
AA Change: C266F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IGv 53 131 1.43e-8 SMART
LINK 147 243 4.25e-44 SMART
LINK 247 339 9.41e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162352
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display reduced nerve conduction velocity and abnormalities in the neuronal extracellular matrix. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 T C X: 160,438,263 I23T possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anxa7 T C 14: 20,456,586 I451V probably benign Het
Capn10 T C 1: 92,934,982 F37L probably benign Het
Cyp4f13 A G 17: 32,946,914 I30T possibly damaging Het
Ddx27 A G 2: 167,027,920 N392D possibly damaging Het
Dhx30 T C 9: 110,088,010 H479R possibly damaging Het
Dnah5 A G 15: 28,295,399 Y1426C probably damaging Het
Dnajc2 A G 5: 21,775,081 probably benign Het
Fbxw8 C A 5: 118,128,980 probably benign Het
Grik5 G A 7: 25,015,454 T705I probably damaging Het
H2-M3 G T 17: 37,270,316 V19F possibly damaging Het
Hist1h2ab T A 13: 23,751,526 probably benign Het
Hspbp1 A T 7: 4,664,701 probably null Het
Jak3 T A 8: 71,682,370 V549D probably damaging Het
Mark1 A G 1: 184,944,907 S49P probably damaging Het
Mdfic T C 6: 15,770,451 V152A probably damaging Het
Mgat4a C A 1: 37,444,887 V501L probably damaging Het
Mlxip C A 5: 123,445,981 P536T possibly damaging Het
Mrpl2 A T 17: 46,649,037 T213S probably damaging Het
Nos1ap C A 1: 170,390,730 probably null Het
Olfr1247 C T 2: 89,609,482 V207I probably benign Het
Olfr786 T C 10: 129,436,815 M1T probably null Het
Olfr914 T A 9: 38,606,571 Y35* probably null Het
P2rx2 T C 5: 110,341,613 I251V probably damaging Het
Parva T A 7: 112,572,933 probably benign Het
Phf10 G A 17: 14,946,231 T459I probably damaging Het
Prg4 T A 1: 150,455,603 probably benign Het
Pum3 A T 19: 27,390,212 I639N probably benign Het
Rlf T A 4: 121,148,079 K1235* probably null Het
Ryr3 T A 2: 113,028,671 I46F probably benign Het
Sall3 A G 18: 80,972,968 S582P probably benign Het
Scn3b A C 9: 40,270,042 Y17S probably benign Het
Senp8 A G 9: 59,737,328 C169R probably damaging Het
Sgsm1 C T 5: 113,250,993 A1025T probably damaging Het
Six1 T C 12: 73,043,740 E217G possibly damaging Het
Slc38a8 T C 8: 119,485,512 D364G probably damaging Het
Stk10 A T 11: 32,614,592 E801V probably damaging Het
Ston2 A T 12: 91,647,657 I659N probably damaging Het
Stxbp4 T C 11: 90,571,753 Q331R probably benign Het
Synpo2 A T 3: 123,121,215 V54E probably damaging Het
Tax1bp1 A G 6: 52,736,947 D237G possibly damaging Het
Tmigd1 T C 11: 76,906,948 Y39H probably benign Het
Vmn1r15 A G 6: 57,258,473 T109A probably benign Het
Vmn1r209 T C 13: 22,805,854 Y222C possibly damaging Het
Zfp809 A G 9: 22,235,051 D12G probably damaging Het
Other mutations in Hapln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Hapln2 APN 3 88024334 missense possibly damaging 0.82
IGL01644:Hapln2 APN 3 88022637 missense probably damaging 0.99
R0349:Hapln2 UTSW 3 88023629 missense probably damaging 1.00
R1546:Hapln2 UTSW 3 88024097 missense probably benign 0.01
R1791:Hapln2 UTSW 3 88024405 missense possibly damaging 0.66
R1842:Hapln2 UTSW 3 88024001 missense probably damaging 1.00
R1922:Hapln2 UTSW 3 88023377 missense probably benign 0.22
R1970:Hapln2 UTSW 3 88024120 critical splice acceptor site probably null
R2152:Hapln2 UTSW 3 88023613 missense probably benign 0.21
R5017:Hapln2 UTSW 3 88024001 missense probably damaging 1.00
R6190:Hapln2 UTSW 3 88023293 missense probably damaging 1.00
R6852:Hapln2 UTSW 3 88022651 missense possibly damaging 0.61
R6910:Hapln2 UTSW 3 88023828 missense probably damaging 1.00
R7585:Hapln2 UTSW 3 88022673 missense probably damaging 1.00
R8270:Hapln2 UTSW 3 88023544 missense possibly damaging 0.88
Posted On2016-08-02