Incidental Mutation 'IGL01644:Hapln2'
ID102592
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: 0.107) question?
Stock #IGL01644
Quality Score
Status
Chromosome3
Chromosomal Location88021750-88027583 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 88022637 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 311 (R311S)
Ref Sequence ENSEMBL: ENSMUSP00000005014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005014] [ENSMUST00000160150]
Predicted Effect probably damaging
Transcript: ENSMUST00000005014
AA Change: R311S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005014
Gene: ENSMUSG00000004894
AA Change: R311S

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 A G 7: 101,297,217 *82R probably null Het
Crb1 T A 1: 139,237,630 R919* probably null Het
Csf1 T C 3: 107,753,842 T120A possibly damaging Het
Defa29 A T 8: 21,326,121 C77S possibly damaging Het
Defb7 A T 8: 19,497,701 probably benign Het
Ece2 T C 16: 20,617,866 V146A possibly damaging Het
Efcab6 T A 15: 84,033,072 S96C probably damaging Het
Gm7729 T C 18: 27,598,819 noncoding transcript Het
Impg2 C T 16: 56,259,870 P679L probably benign Het
Kansl1l A G 1: 66,801,316 I275T probably benign Het
Med29 A G 7: 28,390,847 F108L probably damaging Het
Nrxn1 C T 17: 90,620,873 C789Y possibly damaging Het
Olfr1230 T C 2: 89,296,632 I213V probably benign Het
Olfr1490 A T 19: 13,655,404 probably benign Het
Palld T C 8: 61,877,478 K122E probably benign Het
Ppl A T 16: 5,091,855 L864H probably damaging Het
Ptov1 C A 7: 44,867,502 E37* probably null Het
Sspo T C 6: 48,452,502 V482A probably benign Het
St7l C T 3: 104,919,456 R377* probably null Het
Ttn G T 2: 76,755,383 P13643T probably damaging Het
Vcan T A 13: 89,688,675 T2917S probably benign Het
Other mutations in Hapln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Hapln2 APN 3 88024334 missense possibly damaging 0.82
IGL03177:Hapln2 APN 3 88022771 missense probably damaging 1.00
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 On2014-01-21