Incidental Mutation 'V7581:Papln'
ID 152570
Institutional Source Beutler Lab
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 # V7581 () of strain stinger
Quality Score 109
Status Not validated
Chromosome 12
Chromosomal Location 83810408-83839156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83825608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 608 (R608C)
Ref Sequence ENSEMBL: ENSMUSP00000021646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021646] [ENSMUST00000121733]
AlphaFold Q9EPX2
Predicted Effect possibly damaging
Transcript: ENSMUST00000021646
AA Change: R608C

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: R608C

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: ENSMUST00000121733
AA Change: R630C

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: R630C

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,595,050 (GRCm39) H102L possibly damaging Het
Abcb10 GGCCATCG GG 8: 124,696,500 (GRCm39) probably benign Het
Atp6v1h A G 1: 5,194,666 (GRCm39) T282A possibly damaging Het
Clasp1 G A 1: 118,509,078 (GRCm39) R1027Q probably damaging Het
D630003M21Rik T C 2: 158,042,931 (GRCm39) T870A probably benign Het
Dnah12 T A 14: 26,495,050 (GRCm39) N1369K possibly damaging Het
Dnajc22 T A 15: 98,999,363 (GRCm39) Y183N probably damaging Het
Dpyd C T 3: 118,690,775 (GRCm39) Q295* probably null Het
Dync2i1 A C 12: 116,175,460 (GRCm39) S906A possibly damaging Het
Erv3 T C 2: 131,697,846 (GRCm39) H171R possibly damaging Het
Fam221b T C 4: 43,665,865 (GRCm39) T249A probably benign Het
Fcgr1 T C 3: 96,191,592 (GRCm39) *405W probably null Het
Glrx3 A G 7: 137,060,882 (GRCm39) H172R probably benign Het
Gm10770 T A 2: 150,021,404 (GRCm39) K38* probably null Het
Gm4787 G A 12: 81,424,341 (GRCm39) Q606* probably null Het
Hira G A 16: 18,713,571 (GRCm39) A29T probably damaging Het
Hnrnpab A T 11: 51,493,451 (GRCm39) N252K probably benign Het
Izumo4 A T 10: 80,539,725 (GRCm39) T155S probably benign Het
Kcnb2 A G 1: 15,780,315 (GRCm39) I396V probably benign Het
Klc1 A T 12: 111,741,006 (GRCm39) I161F probably benign Het
Lpar5 C A 6: 125,058,690 (GRCm39) A137E possibly damaging Het
Lrp4 C T 2: 91,318,863 (GRCm39) S900L possibly damaging Het
Muc6 T G 7: 141,233,880 (GRCm39) E808A probably benign Het
Or10j7 G T 1: 173,011,531 (GRCm39) L157I probably benign Het
Or5p57 G T 7: 107,665,885 (GRCm39) T40K probably benign Het
Otop3 T A 11: 115,235,664 (GRCm39) L432Q probably damaging Het
Pelp1 T A 11: 70,288,976 (GRCm39) T257S probably damaging Het
Pik3cd A C 4: 149,741,776 (GRCm39) L390R probably damaging Het
Ppwd1 A G 13: 104,356,745 (GRCm39) Y257H probably damaging Het
Prkcb G T 7: 122,127,699 (GRCm39) W274C probably damaging Het
Rbbp8nl T A 2: 179,920,001 (GRCm39) T558S probably benign Het
Recql4 T C 15: 76,590,369 (GRCm39) D705G possibly damaging Het
Slc30a4 T A 2: 122,531,458 (GRCm39) M136L probably benign Het
Slc5a6 C T 5: 31,199,957 (GRCm39) probably null Het
Spaca1 T C 4: 34,039,311 (GRCm39) E192G probably damaging Het
Spata31 C A 13: 65,069,462 (GRCm39) P537T probably benign Het
Tmc3 T C 7: 83,271,713 (GRCm39) V955A probably benign Het
Tnrc6c G A 11: 117,614,152 (GRCm39) R770H probably damaging Het
Toe1 A T 4: 116,663,308 (GRCm39) N56K probably damaging Het
Tprkb A G 6: 85,905,764 (GRCm39) K150E probably damaging Het
Trps1 T C 15: 50,694,973 (GRCm39) K150E probably damaging Het
Tspyl3 A G 2: 153,066,980 (GRCm39) V86A probably benign Het
Vmn2r68 C T 7: 84,871,088 (GRCm39) V732I probably benign Het
Zfp292 C T 4: 34,806,783 (GRCm39) C2087Y possibly damaging Het
Zfp933 G A 4: 147,910,927 (GRCm39) A223V probably damaging Het
Zmynd8 G A 2: 165,654,314 (GRCm39) R724* probably null 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
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
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'- TTACTTGGTTCCCTACAGAGGTCCC -3'
(R):5'- AGTCTCAACCCACCTGCTCTGAAG -3'

Sequencing Primer
(F):5'- CGGGACCTATCATCTATGAGTCTG -3'
(R):5'- CACCTGCTCTGAAGACATGAGG -3'
Posted On 2014-01-29