Incidental Mutation 'IGL00824:Papln'
ID 12905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Papln
Ensembl Gene ENSMUSG00000021223
Gene Name papilin, proteoglycan-like sulfated glycoprotein
Synonyms E030033C16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00824
Quality Score
Status
Chromosome 12
Chromosomal Location 83810408-83839156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83817210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 27 (S27G)
Ref Sequence ENSEMBL: ENSMUSP00000113806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021646] [ENSMUST00000121733]
AlphaFold Q9EPX2
Predicted Effect possibly damaging
Transcript: ENSMUST00000021646
AA Change: S27G

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: S27G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
TSP1 30 81 3.36e-11 SMART
low complexity region 147 161 N/A INTRINSIC
Pfam:ADAM_spacer1 184 299 3.3e-39 PFAM
TSP1 309 362 1.2e-7 SMART
TSP1 366 426 2.76e-7 SMART
TSP1 427 482 1.42e-9 SMART
TSP1 488 540 2.47e-9 SMART
low complexity region 604 621 N/A INTRINSIC
KU 748 801 1.83e-22 SMART
low complexity region 822 831 N/A INTRINSIC
IGc2 917 980 2.88e-4 SMART
IGc2 1056 1119 2.66e-17 SMART
IGc2 1145 1209 2.13e-7 SMART
Pfam:PLAC 1234 1268 2.3e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121733
AA Change: S27G

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: S27G

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
TSP1 30 81 3.36e-11 SMART
low complexity region 147 161 N/A INTRINSIC
Pfam:ADAM_spacer1 184 299 2.8e-38 PFAM
TSP1 309 362 1.2e-7 SMART
TSP1 388 448 1.82e-7 SMART
TSP1 449 504 1.42e-9 SMART
TSP1 510 562 2.47e-9 SMART
low complexity region 626 643 N/A INTRINSIC
KU 770 823 1.83e-22 SMART
Pfam:Papilin_u7 831 922 1.9e-40 PFAM
IGc2 939 1002 2.88e-4 SMART
IGc2 1078 1141 2.66e-17 SMART
IGc2 1167 1231 2.13e-7 SMART
Pfam:PLAC 1257 1289 1.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152904
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atl1 A G 12: 69,979,012 (GRCm39) T147A probably damaging Het
Cdh17 A G 4: 11,784,675 (GRCm39) K277R probably benign Het
Cyp2j5 A G 4: 96,552,160 (GRCm39) F30L probably benign Het
Hmcn1 A T 1: 150,532,485 (GRCm39) V3134E probably damaging Het
Il2ra T C 2: 11,687,910 (GRCm39) V230A probably benign Het
Mgst2 C T 3: 51,589,999 (GRCm39) P146S probably benign Het
Myrfl T C 10: 116,685,264 (GRCm39) probably benign Het
Nat8f5 A C 6: 85,794,279 (GRCm39) L227R probably damaging Het
Osbpl2 G A 2: 179,792,060 (GRCm39) V255M probably benign Het
Paqr7 A G 4: 134,234,278 (GRCm39) Y45C probably damaging Het
Pkhd1 A G 1: 20,151,408 (GRCm39) probably null Het
Plrg1 C T 3: 82,975,642 (GRCm39) T295I probably damaging Het
Spata31e2 T C 1: 26,722,670 (GRCm39) I837V possibly damaging Het
Sypl1 T A 12: 33,015,505 (GRCm39) probably benign Het
Tmco3 T A 8: 13,342,825 (GRCm39) V187E probably damaging Het
Trmt2b T C X: 133,168,154 (GRCm39) I47M possibly damaging Het
Vmn2r61 T A 7: 41,916,438 (GRCm39) N350K probably benign Het
Zfp687 A G 3: 94,916,496 (GRCm39) L842P probably damaging Het
Other mutations in Papln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01788:Papln APN 12 83,822,236 (GRCm39) missense probably benign 0.32
IGL01889:Papln APN 12 83,833,609 (GRCm39) missense probably benign 0.25
IGL02499:Papln APN 12 83,827,445 (GRCm39) missense probably benign 0.00
IGL02567:Papln APN 12 83,825,611 (GRCm39) missense probably benign 0.00
IGL03150:Papln APN 12 83,829,758 (GRCm39) missense probably damaging 1.00
IGL03331:Papln APN 12 83,830,435 (GRCm39) missense probably benign
F5770:Papln UTSW 12 83,825,608 (GRCm39) missense possibly damaging 0.72
R0201:Papln UTSW 12 83,829,801 (GRCm39) splice site probably benign
R0389:Papln UTSW 12 83,830,153 (GRCm39) nonsense probably null
R0763:Papln UTSW 12 83,838,639 (GRCm39) missense possibly damaging 0.54
R1508:Papln UTSW 12 83,829,690 (GRCm39) missense probably damaging 0.99
R1628:Papln UTSW 12 83,831,180 (GRCm39) splice site probably benign
R1920:Papln UTSW 12 83,836,028 (GRCm39) nonsense probably null
R1974:Papln UTSW 12 83,828,811 (GRCm39) missense probably damaging 0.98
R2004:Papln UTSW 12 83,819,992 (GRCm39) missense probably damaging 1.00
R2105:Papln UTSW 12 83,827,010 (GRCm39) missense probably benign 0.04
R2876:Papln UTSW 12 83,825,701 (GRCm39) missense probably damaging 0.96
R4199:Papln UTSW 12 83,830,166 (GRCm39) missense probably null 0.01
R4702:Papln UTSW 12 83,828,757 (GRCm39) missense probably benign 0.01
R4705:Papln UTSW 12 83,823,982 (GRCm39) splice site probably null
R4835:Papln UTSW 12 83,821,194 (GRCm39) missense probably damaging 0.99
R4874:Papln UTSW 12 83,823,917 (GRCm39) missense probably benign 0.01
R4938:Papln UTSW 12 83,829,677 (GRCm39) missense probably benign 0.35
R5000:Papln UTSW 12 83,821,663 (GRCm39) missense probably damaging 1.00
R5149:Papln UTSW 12 83,818,656 (GRCm39) splice site probably null
R5324:Papln UTSW 12 83,821,345 (GRCm39) missense probably damaging 1.00
R5784:Papln UTSW 12 83,828,754 (GRCm39) missense probably benign
R5881:Papln UTSW 12 83,818,652 (GRCm39) missense probably null 0.91
R5977:Papln UTSW 12 83,831,143 (GRCm39) nonsense probably null
R6035:Papln UTSW 12 83,821,454 (GRCm39) missense probably damaging 1.00
R6035:Papln UTSW 12 83,821,454 (GRCm39) missense probably damaging 1.00
R6291:Papln UTSW 12 83,829,789 (GRCm39) missense probably benign 0.01
R6461:Papln UTSW 12 83,828,587 (GRCm39) splice site probably null
R6536:Papln UTSW 12 83,828,661 (GRCm39) missense probably damaging 1.00
R6861:Papln UTSW 12 83,821,723 (GRCm39) missense probably damaging 1.00
R6898:Papln UTSW 12 83,824,234 (GRCm39) missense probably benign 0.03
R6953:Papln UTSW 12 83,828,659 (GRCm39) nonsense probably null
R7155:Papln UTSW 12 83,823,295 (GRCm39) missense probably damaging 1.00
R7450:Papln UTSW 12 83,826,945 (GRCm39) missense probably benign 0.13
R7510:Papln UTSW 12 83,818,947 (GRCm39) missense probably damaging 0.99
R7850:Papln UTSW 12 83,827,436 (GRCm39) missense probably damaging 1.00
R7977:Papln UTSW 12 83,822,156 (GRCm39) missense probably damaging 1.00
R7987:Papln UTSW 12 83,822,156 (GRCm39) missense probably damaging 1.00
R8321:Papln UTSW 12 83,821,715 (GRCm39) nonsense probably null
R8324:Papln UTSW 12 83,833,393 (GRCm39) missense probably damaging 1.00
R8466:Papln UTSW 12 83,825,255 (GRCm39) critical splice acceptor site probably null
R8743:Papln UTSW 12 83,829,764 (GRCm39) missense probably damaging 1.00
R8790:Papln UTSW 12 83,823,918 (GRCm39) missense probably benign 0.01
R9086:Papln UTSW 12 83,821,633 (GRCm39) missense probably damaging 1.00
R9291:Papln UTSW 12 83,825,284 (GRCm39) missense probably benign 0.01
R9350:Papln UTSW 12 83,833,638 (GRCm39) missense probably damaging 1.00
R9438:Papln UTSW 12 83,818,606 (GRCm39) missense probably benign
R9484:Papln UTSW 12 83,838,618 (GRCm39) missense probably benign 0.05
V7580:Papln UTSW 12 83,825,608 (GRCm39) missense possibly damaging 0.72
V7581:Papln UTSW 12 83,825,608 (GRCm39) missense possibly damaging 0.72
V7582:Papln UTSW 12 83,825,608 (GRCm39) missense possibly damaging 0.72
Z1088:Papln UTSW 12 83,823,150 (GRCm39) missense probably benign 0.19
Posted On 2012-12-06