Incidental Mutation 'R6910:Hapln2'
ID 538968
Institutional Source Beutler Lab
Gene Symbol Hapln2
Ensembl Gene ENSMUSG00000004894
Gene Name hyaluronan and proteoglycan link protein 2
Synonyms 4930401E20Rik, Bral1
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock # R6910 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 88021750-88027583 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88023828 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 127 (Y127H)
Ref Sequence ENSEMBL: ENSMUSP00000005014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005014] [ENSMUST00000160150]
AlphaFold Q9ESM3
Predicted Effect probably damaging
Transcript: ENSMUST00000005014
AA Change: Y127H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005014
Gene: ENSMUSG00000004894
AA Change: Y127H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,620,447 V151A probably damaging Het
Cfap54 A G 10: 92,836,512 S2899P probably benign Het
Chil5 A G 3: 106,019,661 W82R probably damaging Het
Dennd3 A G 15: 73,555,116 T781A probably benign Het
Epha2 A G 4: 141,321,513 D597G probably damaging Het
Gcn1l1 A G 5: 115,606,538 T1598A probably benign Het
Glp2r A G 11: 67,730,671 F162S probably benign Het
Gm10130 A T 2: 150,324,067 Q56L probably benign Het
Gm17655 T A 5: 110,047,173 R248* probably null Het
Gm9268 T C 7: 43,024,051 F178L probably benign Het
Gnptab G A 10: 88,431,396 G450S probably damaging Het
Gpatch2l G A 12: 86,244,184 R47H probably damaging Het
Hdac4 G T 1: 91,982,153 T463K probably damaging Het
Ift80 A C 3: 68,927,735 S458A probably benign Het
Lama1 A G 17: 67,791,464 D1846G possibly damaging Het
Map3k8 A G 18: 4,340,801 I171T probably benign Het
Micu1 A G 10: 59,740,667 E115G probably damaging Het
Mrpl39 A G 16: 84,735,192 V9A unknown Het
Ncoa7 T G 10: 30,694,121 I281L possibly damaging Het
Nms A G 1: 38,941,895 E54G probably benign Het
Nrip1 G A 16: 76,294,417 A84V probably damaging Het
Olfr1331 T A 4: 118,869,138 M119K probably damaging Het
Olfr743 G A 14: 50,533,873 V154M probably benign Het
Pcdhga10 T A 18: 37,748,232 S349T probably damaging Het
R3hcc1 G A 14: 69,697,575 P454L probably damaging Het
Rsrc1 C T 3: 66,994,649 P44L unknown Het
Ryr3 T C 2: 112,958,175 D170G probably damaging Het
Scp2 C A 4: 108,105,086 G81C probably damaging Het
Sez6 A G 11: 77,953,869 T173A possibly damaging Het
Syne1 T C 10: 5,048,887 H8142R probably benign Het
Tcof1 G C 18: 60,829,051 A702G possibly damaging Het
Tnfrsf11a A G 1: 105,844,546 T520A probably damaging Het
Tpm1 A G 9: 67,031,974 S170P probably damaging Het
Try5 T C 6: 41,311,799 D54G possibly damaging Het
Zan T C 5: 137,419,080 E3041G unknown Het
Zfp616 A T 11: 74,085,002 H699L 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
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
R7585:Hapln2 UTSW 3 88022673 missense probably damaging 1.00
R8270:Hapln2 UTSW 3 88023544 missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AATTGAACTGGTAGCGGCCTC -3'
(R):5'- GCTACAAAGTACGCTGGAGC -3'

Sequencing Primer
(F):5'- CTGGGTTGGTACGGAAACACC -3'
(R):5'- CTGGAGCAAAGTGGAGCCC -3'
Posted On 2018-11-06