Incidental Mutation 'R7977:Papln'
ID |
650979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Papln
|
Ensembl Gene |
ENSMUSG00000021223 |
Gene Name |
papilin, proteoglycan-like sulfated glycoprotein |
Synonyms |
E030033C16Rik |
MMRRC Submission |
046020-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7977 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
83810408-83839156 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83822156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 337
(E337G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113806
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021646]
[ENSMUST00000121733]
|
AlphaFold |
Q9EPX2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021646
AA Change: E337G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021646 Gene: ENSMUSG00000021223 AA Change: E337G
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000121733
AA Change: E337G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113806 Gene: ENSMUSG00000021223 AA Change: E337G
Domain | Start | End | E-Value | Type |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
G |
T |
2: 32,464,317 (GRCm39) |
Q161K |
unknown |
Het |
Acsl5 |
T |
C |
19: 55,266,405 (GRCm39) |
|
probably null |
Het |
Adgre1 |
T |
A |
17: 57,754,987 (GRCm39) |
I695N |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,739,356 (GRCm39) |
D2176G |
unknown |
Het |
Atp6v0a2 |
G |
A |
5: 124,797,050 (GRCm39) |
G810D |
probably damaging |
Het |
Bod1l |
A |
C |
5: 41,952,413 (GRCm39) |
N2868K |
probably damaging |
Het |
Brd7 |
T |
C |
8: 89,060,769 (GRCm39) |
T526A |
probably benign |
Het |
C9 |
T |
A |
15: 6,496,943 (GRCm39) |
Y213* |
probably null |
Het |
Card6 |
T |
A |
15: 5,130,007 (GRCm39) |
N463I |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,525,319 (GRCm39) |
Y485C |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,917,194 (GRCm39) |
F260L |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,963,498 (GRCm39) |
D2304G |
probably damaging |
Het |
Dnase1 |
A |
G |
16: 3,855,834 (GRCm39) |
D55G |
probably damaging |
Het |
Ecsit |
C |
A |
9: 21,984,780 (GRCm39) |
R296L |
probably damaging |
Het |
Entpd8 |
A |
G |
2: 24,974,778 (GRCm39) |
D403G |
probably damaging |
Het |
Epha2 |
C |
A |
4: 141,035,791 (GRCm39) |
Q76K |
probably damaging |
Het |
Exoc1 |
T |
A |
5: 76,691,432 (GRCm39) |
V252E |
probably damaging |
Het |
Fmnl3 |
T |
A |
15: 99,225,979 (GRCm39) |
H225L |
possibly damaging |
Het |
Gm4565 |
A |
C |
7: 22,282,812 (GRCm39) |
M2R |
probably benign |
Het |
Gpr146 |
G |
T |
5: 139,378,440 (GRCm39) |
A81S |
possibly damaging |
Het |
Heg1 |
C |
A |
16: 33,541,100 (GRCm39) |
S419* |
probably null |
Het |
Hps5 |
A |
C |
7: 46,418,475 (GRCm39) |
I865S |
probably benign |
Het |
Hsp90ab1 |
A |
C |
17: 45,882,532 (GRCm39) |
I54S |
probably damaging |
Het |
Hyal4 |
T |
G |
6: 24,763,865 (GRCm39) |
M342R |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,927,470 (GRCm39) |
T987A |
possibly damaging |
Het |
Kat6b |
A |
G |
14: 21,719,931 (GRCm39) |
T1428A |
probably benign |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,111,959 (GRCm39) |
D893G |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,161,277 (GRCm39) |
T1174A |
probably benign |
Het |
Naf1 |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
8: 67,313,146 (GRCm39) |
|
probably benign |
Het |
Nsun5 |
G |
A |
5: 135,404,534 (GRCm39) |
R424H |
probably damaging |
Het |
Oacyl |
A |
G |
18: 65,831,462 (GRCm39) |
E33G |
probably benign |
Het |
Or6c66 |
T |
C |
10: 129,461,838 (GRCm39) |
I31V |
probably benign |
Het |
Or7d10 |
T |
C |
9: 19,831,610 (GRCm39) |
F35S |
possibly damaging |
Het |
Palm |
C |
T |
10: 79,629,539 (GRCm39) |
|
probably benign |
Het |
Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
Setd1b |
A |
G |
5: 123,285,743 (GRCm39) |
D263G |
unknown |
Het |
Slc10a7 |
T |
A |
8: 79,423,843 (GRCm39) |
F202I |
probably benign |
Het |
Smpd3 |
T |
C |
8: 106,986,526 (GRCm39) |
I455V |
probably benign |
Het |
Snip1 |
G |
T |
4: 124,960,732 (GRCm39) |
G63W |
probably damaging |
Het |
Sorl1 |
T |
A |
9: 41,888,857 (GRCm39) |
Y1981F |
probably damaging |
Het |
Tagln2 |
A |
G |
1: 172,332,820 (GRCm39) |
T36A |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,929,194 (GRCm39) |
S2746P |
possibly damaging |
Het |
Tob2 |
G |
A |
15: 81,735,681 (GRCm39) |
P96L |
probably damaging |
Het |
Triobp |
T |
A |
15: 78,885,744 (GRCm39) |
Y1816N |
probably damaging |
Het |
Trpc3 |
A |
G |
3: 36,698,318 (GRCm39) |
I647T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,721,905 (GRCm39) |
S6600P |
unknown |
Het |
Vmn1r200 |
A |
T |
13: 22,580,025 (GRCm39) |
Y276F |
possibly damaging |
Het |
Vmn1r230 |
T |
C |
17: 21,067,159 (GRCm39) |
I116T |
probably benign |
Het |
Vmn1r26 |
A |
T |
6: 57,985,264 (GRCm39) |
Y308* |
probably null |
Het |
Vmn2r16 |
C |
T |
5: 109,488,015 (GRCm39) |
T296I |
probably damaging |
Het |
Wdfy2 |
A |
G |
14: 63,189,380 (GRCm39) |
D283G |
possibly damaging |
Het |
|
Other mutations in Papln |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTGGAGCTCATGACGATC -3'
(R):5'- AAGCAGCTTTGTTTAGGGCTTCC -3'
Sequencing Primer
(F):5'- AGGACCCTTTGAGCCTCAG -3'
(R):5'- CCCTCCCTTCCCACCCAAG -3'
|
Posted On |
2020-09-15 |