Incidental Mutation 'R8312:Hapln1'
ID 641468
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 067718-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8312 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 89688654-89759951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89749563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 36 (A36V)
Ref Sequence ENSEMBL: ENSMUSP00000022108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022108]
AlphaFold Q9QUP5
Predicted Effect probably benign
Transcript: ENSMUST00000022108
AA Change: A36V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022108
Gene: ENSMUSG00000021613
AA Change: A36V

DomainStartEndE-ValueType
IGv 58 143 3.48e-12 SMART
LINK 159 256 7.26e-61 SMART
LINK 260 353 8.35e-52 SMART
Meta Mutation Damage Score 0.0610 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,662,190 (GRCm39) R23G probably damaging Het
Abraxas2 A G 7: 132,478,329 (GRCm39) Y163C probably damaging Het
Acnat1 A T 4: 49,449,142 (GRCm39) L208* probably null Het
Agbl5 A G 5: 31,051,850 (GRCm39) E556G probably damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Arih2 A G 9: 108,521,473 (GRCm39) S2P probably damaging Het
C87436 T A 6: 86,434,813 (GRCm39) L387Q probably damaging Het
Card9 A T 2: 26,247,801 (GRCm39) Y183* probably null Het
Cdk14 T C 5: 4,944,141 (GRCm39) D394G probably benign Het
Cep135 C T 5: 76,784,746 (GRCm39) S947L probably damaging Het
Cfb T C 17: 35,077,121 (GRCm39) K505E probably benign Het
Cnot4 T A 6: 35,000,076 (GRCm39) D708V probably damaging Het
Col16a1 T A 4: 129,948,244 (GRCm39) L281M unknown Het
Col6a3 G T 1: 90,741,412 (GRCm39) D673E possibly damaging Het
Ctdnep1 G A 11: 69,879,527 (GRCm39) S150N probably benign Het
Fanca T A 8: 123,996,549 (GRCm39) probably benign Het
Fras1 T A 5: 96,736,050 (GRCm39) N548K probably benign Het
Gbp2b A G 3: 142,304,812 (GRCm39) M83V probably benign Het
Gbp2b C A 3: 142,304,815 (GRCm39) P84T probably damaging Het
Gli2 A T 1: 118,795,842 (GRCm39) probably benign Het
Greb1l A G 18: 10,511,587 (GRCm39) probably benign Het
Grn A C 11: 102,327,073 (GRCm39) K557T probably damaging Het
Heg1 C T 16: 33,547,045 (GRCm39) R635W probably benign Het
Hivep1 C A 13: 42,308,653 (GRCm39) Q298K possibly damaging Het
Hmcn1 A G 1: 150,614,515 (GRCm39) I1297T probably damaging Het
Hp1bp3 T A 4: 137,950,750 (GRCm39) probably benign Het
Htr4 C G 18: 62,570,549 (GRCm39) F201L probably damaging Het
Insrr C G 3: 87,707,791 (GRCm39) Q78E possibly damaging Het
Itga6 A T 2: 71,686,297 (GRCm39) M1072L probably benign Het
Kdsr A G 1: 106,675,216 (GRCm39) probably null Het
Klhl7 T C 5: 24,339,965 (GRCm39) I149T probably damaging Het
Lce1l G C 3: 92,757,766 (GRCm39) P31A unknown Het
Mag T C 7: 30,610,894 (GRCm39) Y116C probably damaging Het
Mast2 A G 4: 116,287,683 (GRCm39) S131P probably benign Het
Mlec C A 5: 115,288,266 (GRCm39) probably null Het
Mrap2 G A 9: 87,051,712 (GRCm39) probably null Het
Myo5b A G 18: 74,867,033 (GRCm39) K1395E probably damaging Het
Nipa2 G A 7: 55,583,050 (GRCm39) Q232* probably null Het
Nsd3 C T 8: 26,153,268 (GRCm39) T536M probably damaging Het
Oit3 T C 10: 59,274,632 (GRCm39) N56S probably benign Het
Or10p22 A G 10: 128,826,347 (GRCm39) T189A probably benign Het
Or13c7 A T 4: 43,854,461 (GRCm39) I51F probably benign Het
Or2m13 T C 16: 19,225,987 (GRCm39) M260V probably benign Het
Pax3 C T 1: 78,172,006 (GRCm39) R68Q probably damaging Het
Pcnx2 G T 8: 126,489,589 (GRCm39) H1668Q possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pkd1 A G 17: 24,786,102 (GRCm39) S463G probably benign Het
Plb1 C T 5: 32,485,829 (GRCm39) T871M probably damaging Het
Prdx1 A G 4: 116,556,398 (GRCm39) D182G possibly damaging Het
Prkch T A 12: 73,807,358 (GRCm39) F593I noncoding transcript Het
Psrc1 C T 3: 108,293,673 (GRCm39) P194L probably benign Het
Ptp4a2 A T 4: 129,733,427 (GRCm39) I18L probably benign Het
Samd10 A T 2: 181,238,668 (GRCm39) L153H probably damaging Het
Shc3 T G 13: 51,596,754 (GRCm39) H423P probably damaging Het
Siae A T 9: 37,557,593 (GRCm39) I467F Het
Slc27a5 C T 7: 12,725,214 (GRCm39) R411Q probably damaging Het
Spata24 A G 18: 35,793,861 (GRCm39) I56T probably benign Het
Spns3 G A 11: 72,390,534 (GRCm39) T407M probably damaging Het
Spta1 G A 1: 174,067,777 (GRCm39) C2068Y probably damaging Het
Svs5 C A 2: 164,080,091 (GRCm39) G25W probably damaging Het
Thsd7a T C 6: 12,471,181 (GRCm39) D479G Het
Trhde T C 10: 114,249,192 (GRCm39) Y858C probably damaging Het
Ttn G A 2: 76,781,992 (GRCm39) R1057C unknown Het
Tulp4 G T 17: 6,257,333 (GRCm39) probably null Het
Tyk2 T C 9: 21,026,945 (GRCm39) T613A possibly damaging Het
Ugt2b37 T C 5: 87,390,799 (GRCm39) K356R probably benign Het
Vmn1r39 A G 6: 66,781,841 (GRCm39) V159A noncoding transcript Het
Vps35 A G 8: 86,001,498 (GRCm39) V440A possibly damaging Het
Zmym6 A G 4: 127,017,627 (GRCm39) N1136S probably damaging 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
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
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'- CCCAGCTTTGTAGTGGCTTG -3'
(R):5'- GACCTTGATAGCCTCCATAGG -3'

Sequencing Primer
(F):5'- TGTAGTGGCTTGCAGGTAAC -3'
(R):5'- CTTCTTGTGATAGCCCATGGAAACG -3'
Posted On 2020-07-28