Incidental Mutation 'R9484:Papln'
ID 716472
Institutional Source Beutler Lab
Gene Symbol Papln
Ensembl Gene ENSMUSG00000021223
Gene Name papilin, proteoglycan-like sulfated glycoprotein
Synonyms E030033C16Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9484 (G1)
Quality Score 106.008
Status Not validated
Chromosome 12
Chromosomal Location 83810408-83839156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83838618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 1249 (Q1249L)
Ref Sequence ENSEMBL: ENSMUSP00000113806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021646] [ENSMUST00000021647] [ENSMUST00000085215] [ENSMUST00000110298] [ENSMUST00000117217] [ENSMUST00000121733] [ENSMUST00000129335] [ENSMUST00000154043]
AlphaFold Q9EPX2
Predicted Effect probably benign
Transcript: ENSMUST00000021646
AA Change: Q1227L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: Q1227L

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 probably benign
Transcript: ENSMUST00000021647
SMART Domains Protein: ENSMUSP00000021647
Gene: ENSMUSG00000021224

DomainStartEndE-ValueType
PTB 34 175 2.19e-37 SMART
low complexity region 231 253 N/A INTRINSIC
Pfam:NumbF 257 339 4.7e-42 PFAM
low complexity region 413 434 N/A INTRINSIC
low complexity region 445 453 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085215
SMART Domains Protein: ENSMUSP00000082311
Gene: ENSMUSG00000021224

DomainStartEndE-ValueType
PTB 34 175 2.19e-37 SMART
low complexity region 231 253 N/A INTRINSIC
Pfam:NumbF 257 322 5.6e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110298
SMART Domains Protein: ENSMUSP00000105927
Gene: ENSMUSG00000021224

DomainStartEndE-ValueType
Pfam:PID 39 76 2.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117217
SMART Domains Protein: ENSMUSP00000113591
Gene: ENSMUSG00000021224

DomainStartEndE-ValueType
PTB 34 164 3.62e-38 SMART
low complexity region 220 242 N/A INTRINSIC
Pfam:NumbF 246 328 4.5e-42 PFAM
low complexity region 402 423 N/A INTRINSIC
low complexity region 434 442 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121733
AA Change: Q1249L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: Q1249L

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 probably benign
Transcript: ENSMUST00000129335
SMART Domains Protein: ENSMUSP00000119303
Gene: ENSMUSG00000021224

DomainStartEndE-ValueType
PTB 34 175 2.19e-37 SMART
low complexity region 231 253 N/A INTRINSIC
Pfam:NumbF 258 338 9.9e-32 PFAM
low complexity region 462 483 N/A INTRINSIC
low complexity region 494 502 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154043
SMART Domains Protein: ENSMUSP00000117899
Gene: ENSMUSG00000021224

DomainStartEndE-ValueType
PTB 34 164 3.62e-38 SMART
low complexity region 220 242 N/A INTRINSIC
Pfam:NumbF 246 328 5.1e-42 PFAM
low complexity region 451 472 N/A INTRINSIC
low complexity region 483 491 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,250,845 (GRCm39) C151S probably damaging Het
Actr8 T C 14: 29,708,301 (GRCm39) I193T probably benign Het
Btbd2 T C 10: 80,480,103 (GRCm39) N419S probably benign Het
Cacna2d1 T A 5: 16,561,831 (GRCm39) W821R probably damaging Het
Cadps2 T C 6: 23,626,646 (GRCm39) Y214C probably benign Het
Calu T A 6: 29,366,162 (GRCm39) L180Q probably damaging Het
Corin C T 5: 72,497,280 (GRCm39) V615I probably damaging Het
Cyp8b1 A T 9: 121,744,983 (GRCm39) D116E probably benign Het
D630036H23Rik C A 12: 36,431,711 (GRCm39) A96S unknown Het
Ddx24 A T 12: 103,377,555 (GRCm39) Y717N probably damaging Het
Dmap1 G T 4: 117,533,308 (GRCm39) Q249K probably benign Het
Dnah10 T A 5: 124,900,508 (GRCm39) W3922R probably damaging Het
Dnah14 T C 1: 181,517,773 (GRCm39) F2036L probably benign Het
Dnah14 T C 1: 181,625,311 (GRCm39) I4064T probably benign Het
Dock9 A C 14: 121,818,844 (GRCm39) V1546G probably damaging Het
Eif1ad4 A T 12: 87,862,249 (GRCm39) Q37L possibly damaging Het
Eif3a A T 19: 60,755,006 (GRCm39) S1059T unknown Het
Ep300 A G 15: 81,521,026 (GRCm39) E1262G unknown Het
Evl T A 12: 108,652,716 (GRCm39) I387N probably damaging Het
Fat2 A C 11: 55,200,752 (GRCm39) V774G probably damaging Het
Fez1 T A 9: 36,755,093 (GRCm39) Y31N probably benign Het
Fkbp10 A G 11: 100,313,960 (GRCm39) I435V probably damaging Het
Flnb A G 14: 7,929,004 (GRCm38) D1911G probably benign Het
Fnbp1 T C 2: 30,973,038 (GRCm39) Y154C probably benign Het
Fndc10 T C 4: 155,779,496 (GRCm39) I180T possibly damaging Het
Frmd4a G A 2: 4,609,026 (GRCm39) V965I possibly damaging Het
Gabrr2 A G 4: 33,071,352 (GRCm39) H64R possibly damaging Het
Glis3 T C 19: 28,508,403 (GRCm39) D527G probably damaging Het
H2-Ob T A 17: 34,459,989 (GRCm39) F33L probably damaging Het
Hbb-bh1 C T 7: 103,492,239 (GRCm39) E27K probably benign Het
Ifnb1 T A 4: 88,440,915 (GRCm39) T33S probably benign Het
Igkv4-80 T A 6: 68,993,766 (GRCm39) T42S probably damaging Het
Irs2 C T 8: 11,057,334 (GRCm39) G366D probably damaging Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Krtap5-3 T A 7: 141,756,068 (GRCm39) C302S unknown Het
Lgi1 A G 19: 38,294,757 (GRCm39) K510E probably benign Het
Lgi2 T A 5: 52,695,936 (GRCm39) D341V probably benign Het
Lin7c T C 2: 109,724,813 (GRCm39) I14T probably benign Het
Lrrc19 A T 4: 94,531,573 (GRCm39) M13K probably benign Het
Lrrc69 T C 4: 14,666,012 (GRCm39) I315M probably benign Het
Mtcl3 G A 10: 29,072,969 (GRCm39) D754N probably damaging Het
Myo5c A T 9: 75,204,770 (GRCm39) D1541V probably damaging Het
Mypn T G 10: 63,003,019 (GRCm39) M373L probably benign Het
Nckipsd C A 9: 108,689,837 (GRCm39) H333N probably damaging Het
Nrg2 A T 18: 36,157,401 (GRCm39) L428Q probably null Het
Or13a20 T C 7: 140,231,904 (GRCm39) L4S probably benign Het
Or2b28 C A 13: 21,531,587 (GRCm39) T163K probably damaging Het
Or5an11 T C 19: 12,245,735 (GRCm39) I47T possibly damaging Het
Otogl T A 10: 107,657,894 (GRCm39) probably null Het
Otogl C T 10: 107,737,156 (GRCm39) G86D probably damaging Het
Plxna2 G T 1: 194,327,202 (GRCm39) G379C probably damaging Het
Pofut2 T C 10: 77,095,260 (GRCm39) I35T probably benign Het
Pros1 A G 16: 62,744,887 (GRCm39) T501A possibly damaging Het
Rapgef1 T C 2: 29,625,821 (GRCm39) S1042P possibly damaging Het
Rps6kb1 C T 11: 86,408,443 (GRCm39) E185K probably damaging Het
Slc13a2 A T 11: 78,294,233 (GRCm39) L216Q probably damaging Het
Slc22a14 T C 9: 119,009,615 (GRCm39) Y160C probably damaging Het
Slc22a4 T A 11: 53,879,773 (GRCm39) I429F possibly damaging Het
Slc26a3 A G 12: 31,511,785 (GRCm39) K457E probably damaging Het
Slc47a2 T C 11: 61,227,060 (GRCm39) I169M possibly damaging Het
Slco1a1 C T 6: 141,854,672 (GRCm39) V660I probably benign Het
Smyd1 A G 6: 71,202,450 (GRCm39) Y252H probably damaging Het
Spp2 A T 1: 88,334,695 (GRCm39) probably benign Het
Stra8 T A 6: 34,911,121 (GRCm39) W250R probably damaging Het
Syne1 A C 10: 5,170,359 (GRCm39) L5183R probably damaging Het
Tdrd9 T C 12: 112,012,684 (GRCm39) S1203P probably damaging Het
Th C A 7: 142,453,620 (GRCm39) E27* probably null Het
Thada C A 17: 84,736,619 (GRCm39) L887F probably damaging Het
Timm23 T C 14: 31,902,586 (GRCm39) T186A probably benign Het
Tmem132b A T 5: 125,860,420 (GRCm39) E555V probably damaging Het
Tnik A T 3: 28,649,093 (GRCm39) Q457L unknown Het
Uba7 C A 9: 107,861,037 (GRCm39) H942Q probably benign Het
Upf2 T C 2: 5,966,078 (GRCm39) S233P unknown Het
Urm1 T A 2: 29,732,760 (GRCm39) N72K probably damaging Het
Usp10 T C 8: 120,675,504 (GRCm39) S508P possibly damaging Het
Usp37 G A 1: 74,499,081 (GRCm39) P632S probably damaging Het
Wdr77 T A 3: 105,872,404 (GRCm39) N209K probably benign Het
Zbtb24 C T 10: 41,327,429 (GRCm39) T105M probably benign Het
Zfp341 T A 2: 154,485,763 (GRCm39) I671N probably damaging Het
Zfp414 A G 17: 33,848,984 (GRCm39) T73A probably benign Het
Zfp574 A T 7: 24,781,404 (GRCm39) I809F possibly damaging Het
Zfp62 T C 11: 49,108,108 (GRCm39) I733T probably damaging Het
Zfp719 A G 7: 43,239,581 (GRCm39) I390V possibly damaging Het
Other mutations in Papln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Papln APN 12 83,817,210 (GRCm39) missense possibly damaging 0.81
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
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
Predicted Primers PCR Primer
(F):5'- TTGCAGTTCCAGACAGTAGGG -3'
(R):5'- TGCAAGCCATGTCTTACCATC -3'

Sequencing Primer
(F):5'- GCAGGAAGTTAAATGTGGAGCC -3'
(R):5'- TTCTCCCCAGCAAACTATCCAG -3'
Posted On 2022-07-18