Incidental Mutation 'R5149:Papln'
ID |
395262 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Papln
|
Ensembl Gene |
ENSMUSG00000021223 |
Gene Name |
papilin, proteoglycan-like sulfated glycoprotein |
Synonyms |
E030033C16Rik |
MMRRC Submission |
042732-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5149 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
83810408-83839156 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to T
at 83818656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113806
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021646]
[ENSMUST00000121733]
|
AlphaFold |
Q9EPX2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021646
|
SMART Domains |
Protein: ENSMUSP00000021646 Gene: ENSMUSG00000021223
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 null
Transcript: ENSMUST00000121733
|
SMART Domains |
Protein: ENSMUSP00000113806 Gene: ENSMUSG00000021223
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152904
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
A |
G |
16: 22,717,673 (GRCm39) |
T245A |
probably benign |
Het |
Akr1c13 |
G |
T |
13: 4,244,168 (GRCm39) |
V74L |
probably benign |
Het |
Amt |
G |
A |
9: 108,178,650 (GRCm39) |
V389I |
possibly damaging |
Het |
Ankrd26 |
T |
C |
6: 118,535,957 (GRCm39) |
N159S |
probably benign |
Het |
Atp1a4 |
A |
G |
1: 172,059,572 (GRCm39) |
I840T |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,364 (GRCm39) |
|
probably null |
Het |
Col27a1 |
T |
C |
4: 63,249,664 (GRCm39) |
|
probably benign |
Het |
Cyp2j5 |
A |
G |
4: 96,547,744 (GRCm39) |
L166P |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dchs1 |
G |
A |
7: 105,404,865 (GRCm39) |
T2559I |
probably damaging |
Het |
Dnah12 |
C |
A |
14: 26,572,883 (GRCm39) |
S258* |
probably null |
Het |
Dpep1 |
A |
T |
8: 123,927,177 (GRCm39) |
T309S |
probably benign |
Het |
Epha5 |
A |
T |
5: 84,298,217 (GRCm39) |
F559L |
probably damaging |
Het |
Gm3409 |
T |
C |
5: 146,474,571 (GRCm39) |
I29T |
possibly damaging |
Het |
Grhl1 |
CAGAAGAAG |
CAGAAG |
12: 24,662,178 (GRCm39) |
|
probably benign |
Het |
Gtf3c1 |
G |
T |
7: 125,267,209 (GRCm39) |
R941S |
probably damaging |
Het |
Helb |
C |
T |
10: 119,941,648 (GRCm39) |
E347K |
probably benign |
Het |
Ighv14-3 |
A |
G |
12: 114,023,710 (GRCm39) |
S36P |
probably damaging |
Het |
Klrb1c |
T |
A |
6: 128,760,670 (GRCm39) |
M211L |
probably benign |
Het |
Larp7 |
C |
T |
3: 127,334,460 (GRCm39) |
E510K |
probably damaging |
Het |
Lrig1 |
C |
T |
6: 94,605,025 (GRCm39) |
R190Q |
possibly damaging |
Het |
Marchf6 |
A |
G |
15: 31,462,140 (GRCm39) |
S863P |
possibly damaging |
Het |
Mgst2 |
A |
G |
3: 51,589,958 (GRCm39) |
N132S |
probably benign |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or5w15 |
A |
T |
2: 87,567,749 (GRCm39) |
S306R |
probably benign |
Het |
Or6c6c |
T |
C |
10: 129,541,377 (GRCm39) |
V210A |
probably benign |
Het |
Poteg |
C |
T |
8: 27,971,671 (GRCm39) |
S395L |
possibly damaging |
Het |
Prox1 |
T |
A |
1: 189,879,250 (GRCm39) |
I643F |
possibly damaging |
Het |
Septin4 |
A |
G |
11: 87,480,071 (GRCm39) |
E211G |
probably damaging |
Het |
Serpinb6e |
A |
G |
13: 34,016,468 (GRCm39) |
F422L |
probably damaging |
Het |
Slc22a19 |
A |
G |
19: 7,688,503 (GRCm39) |
L19P |
probably damaging |
Het |
Snf8 |
G |
T |
11: 95,934,286 (GRCm39) |
A136S |
probably benign |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,075,000 (GRCm39) |
T2409A |
probably damaging |
Het |
Tat |
A |
G |
8: 110,723,450 (GRCm39) |
S313G |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,074,855 (GRCm39) |
C1785* |
probably null |
Het |
Tmem132b |
A |
G |
5: 125,699,989 (GRCm39) |
S176G |
probably damaging |
Het |
Tnfrsf8 |
T |
C |
4: 145,029,675 (GRCm39) |
R42G |
possibly damaging |
Het |
Trio |
T |
C |
15: 27,754,115 (GRCm39) |
D2124G |
possibly damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,046,598 (GRCm39) |
D1067E |
probably benign |
Het |
Tspan13 |
T |
C |
12: 36,074,065 (GRCm39) |
S24G |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,344,062 (GRCm39) |
S814P |
possibly damaging |
Het |
Zfp213 |
C |
A |
17: 23,780,373 (GRCm39) |
R49L |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATTGCTTTGGACTCTGGGC -3'
(R):5'- TGTCAGAGAACATGGGTGC -3'
Sequencing Primer
(F):5'- TTTGGACTCTGGGCCAGCC -3'
(R):5'- GGCTAAGGACCTCCCCTATC -3'
|
Posted On |
2016-06-21 |