Incidental Mutation 'R4861:Hapln1'
ID 380262
Institutional Source Beutler Lab
Gene Symbol Hapln1
Ensembl Gene ENSMUSG00000021613
Gene Name hyaluronan and proteoglycan link protein 1
Synonyms LP-1, cartilage linking protein 1, Crtl1l, link protein, CLP, Crtl1
MMRRC Submission 042472-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4861 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 89688654-89759951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89749571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 39 (G39S)
Ref Sequence ENSEMBL: ENSMUSP00000022108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022108]
AlphaFold Q9QUP5
Predicted Effect possibly damaging
Transcript: ENSMUST00000022108
AA Change: G39S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022108
Gene: ENSMUSG00000021613
AA Change: G39S

DomainStartEndE-ValueType
IGv 58 143 3.48e-12 SMART
LINK 159 256 7.26e-61 SMART
LINK 260 353 8.35e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225678
Meta Mutation Damage Score 0.1648 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.2%
  • 20x: 84.7%
Validation Efficiency 100% (53/53)
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in cartilage development and delayed bone formation with short limbs and craniofacial anomalies. Mutants usually die as neonates due to respiratory failure, but some survive and develop dwarfism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,076,249 (GRCm39) R1153H probably damaging Het
Ahcy T C 2: 154,902,436 (GRCm39) E411G probably benign Het
Alpi T A 1: 87,028,191 (GRCm39) I211F probably damaging Het
Arfgef3 G A 10: 18,483,479 (GRCm39) A1415V probably benign Het
Car3 T C 3: 14,931,956 (GRCm39) V109A probably damaging Het
Cdk13 A T 13: 17,941,171 (GRCm39) V17D probably damaging Het
Cept1 A C 3: 106,413,048 (GRCm39) S226A probably damaging Het
Dbt A T 3: 116,341,727 (GRCm39) I443L probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Farp2 T C 1: 93,533,141 (GRCm39) L633S probably damaging Het
Frmd6 T G 12: 70,940,500 (GRCm39) S382A probably damaging Het
Gm26727 T C 2: 67,263,289 (GRCm39) I79M probably damaging Het
Gm5800 T A 14: 51,953,504 (GRCm39) N37I probably damaging Het
Ice2 T A 9: 69,322,730 (GRCm39) S408R probably benign Het
Lctl T C 9: 64,027,045 (GRCm39) I131T possibly damaging Het
Mvk C T 5: 114,598,258 (GRCm39) probably benign Het
Mzt1 T C 14: 99,284,910 (GRCm39) probably null Het
Ncoa7 T A 10: 30,580,608 (GRCm39) M117L probably benign Het
Npy4r C T 14: 33,868,840 (GRCm39) W149* probably null Het
Nr5a2 A G 1: 136,876,458 (GRCm39) probably null Het
Odad1 A G 7: 45,592,297 (GRCm39) E359G probably damaging Het
Plg G A 17: 12,614,622 (GRCm39) E301K probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Rapgef2 T C 3: 78,981,743 (GRCm39) K1084R probably benign Het
Slc41a2 T C 10: 83,152,322 (GRCm39) Q51R probably damaging Het
Slc47a2 A T 11: 61,227,059 (GRCm39) C170S probably benign Het
Slco1b2 A T 6: 141,616,948 (GRCm39) N427I possibly damaging Het
Smc2 G A 4: 52,461,090 (GRCm39) R571H probably benign Het
Sp4 G T 12: 118,264,546 (GRCm39) probably null Het
Tas2r117 T C 6: 132,780,092 (GRCm39) F77L probably benign Het
Tbcd C T 11: 121,492,787 (GRCm39) R875C probably damaging Het
Thumpd2 A G 17: 81,334,230 (GRCm39) S453P probably benign Het
Vars2 G T 17: 35,972,825 (GRCm39) Q13K probably benign Het
Other mutations in Hapln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Hapln1 APN 13 89,756,261 (GRCm39) missense probably benign 0.00
IGL00494:Hapln1 APN 13 89,753,590 (GRCm39) missense probably benign 0.04
IGL01865:Hapln1 APN 13 89,749,784 (GRCm39) missense probably damaging 1.00
IGL02706:Hapln1 APN 13 89,753,578 (GRCm39) missense possibly damaging 0.86
IGL02990:Hapln1 APN 13 89,749,725 (GRCm39) missense probably benign 0.03
R0033:Hapln1 UTSW 13 89,749,932 (GRCm39) missense probably benign 0.20
R0058:Hapln1 UTSW 13 89,755,997 (GRCm39) missense probably benign 0.17
R0058:Hapln1 UTSW 13 89,755,997 (GRCm39) missense probably benign 0.17
R0127:Hapln1 UTSW 13 89,755,988 (GRCm39) missense probably benign 0.22
R0519:Hapln1 UTSW 13 89,732,835 (GRCm39) start gained probably benign
R3862:Hapln1 UTSW 13 89,753,418 (GRCm39) nonsense probably null
R3982:Hapln1 UTSW 13 89,753,560 (GRCm39) missense probably benign
R4717:Hapln1 UTSW 13 89,753,579 (GRCm39) missense probably benign 0.11
R4861:Hapln1 UTSW 13 89,749,571 (GRCm39) missense possibly damaging 0.65
R4862:Hapln1 UTSW 13 89,749,571 (GRCm39) missense possibly damaging 0.65
R4899:Hapln1 UTSW 13 89,749,769 (GRCm39) missense possibly damaging 0.90
R5402:Hapln1 UTSW 13 89,753,530 (GRCm39) missense probably benign 0.07
R5629:Hapln1 UTSW 13 89,749,634 (GRCm39) missense probably damaging 0.98
R6019:Hapln1 UTSW 13 89,756,219 (GRCm39) missense probably benign 0.45
R7917:Hapln1 UTSW 13 89,755,997 (GRCm39) missense probably benign 0.17
R7938:Hapln1 UTSW 13 89,753,347 (GRCm39) missense probably damaging 0.99
R8312:Hapln1 UTSW 13 89,749,563 (GRCm39) missense probably benign
R8345:Hapln1 UTSW 13 89,732,902 (GRCm39) missense probably benign
Z1088:Hapln1 UTSW 13 89,749,617 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTAGTGGCTTGCAGGTAAC -3'
(R):5'- GAAACACTCGACCTTGATAGCC -3'

Sequencing Primer
(F):5'- CTTGGCTAATAGAGCTGC -3'
(R):5'- CTTCTTGTGATAGCCCATGGAAACG -3'
Posted On 2016-04-15