Incidental Mutation 'R6536:Papln'
| ID |
520429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papln
|
| Ensembl Gene |
ENSMUSG00000021223 |
| Gene Name |
papilin, proteoglycan-like sulfated glycoprotein |
| Synonyms |
E030033C16Rik |
| MMRRC Submission |
044662-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
83810408-83839156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83828661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 789
(Y789C)
|
| 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: Y767C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: Y767C
| 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: Y789C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: Y789C
| 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
|
| Meta Mutation Damage Score |
0.3989 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
T |
11: 48,910,550 (GRCm39) |
H628N |
probably benign |
Het |
| Abcb1a |
T |
A |
5: 8,769,030 (GRCm39) |
F751I |
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,865,762 (GRCm39) |
V106M |
probably damaging |
Het |
| Add1 |
C |
A |
5: 34,758,780 (GRCm39) |
N31K |
possibly damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,552 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
G |
14: 78,748,754 (GRCm39) |
D1211A |
possibly damaging |
Het |
| Atp5f1c |
G |
A |
2: 10,085,127 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,477 (GRCm39) |
S72P |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,622,490 (GRCm39) |
W525L |
possibly damaging |
Het |
| Cripto |
A |
T |
9: 110,773,257 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
G |
A |
15: 47,701,863 (GRCm39) |
T1740I |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,697,450 (GRCm39) |
S2122A |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,726,027 (GRCm39) |
N583S |
probably damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,511 (GRCm39) |
V964A |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,235,367 (GRCm39) |
I366F |
probably benign |
Het |
| Hsd17b2 |
G |
A |
8: 118,428,921 (GRCm39) |
V63M |
possibly damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,610,508 (GRCm39) |
|
probably null |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Ifi44 |
A |
G |
3: 151,438,126 (GRCm39) |
V387A |
probably benign |
Het |
| Kcnc4 |
T |
C |
3: 107,355,512 (GRCm39) |
D312G |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klra6 |
C |
T |
6: 130,000,682 (GRCm39) |
V41I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,393,937 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,301,654 (GRCm39) |
E257G |
probably damaging |
Het |
| Or10v1 |
T |
C |
19: 11,873,760 (GRCm39) |
V125A |
probably benign |
Het |
| Or4f14 |
T |
C |
2: 111,743,119 (GRCm39) |
D52G |
possibly damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,467,221 (GRCm39) |
L1680P |
probably damaging |
Het |
| Pcdhac1 |
A |
G |
18: 37,223,367 (GRCm39) |
N60S |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,826,335 (GRCm39) |
N162S |
unknown |
Het |
| Pou3f3 |
A |
G |
1: 42,737,374 (GRCm39) |
I357V |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,993,441 (GRCm39) |
S1235P |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,521,081 (GRCm39) |
S148P |
possibly damaging |
Het |
| Usp49 |
A |
T |
17: 47,990,617 (GRCm39) |
I348F |
probably damaging |
Het |
| Wac |
A |
T |
18: 7,905,189 (GRCm39) |
|
probably null |
Het |
| Zfp775 |
A |
G |
6: 48,596,543 (GRCm39) |
K139R |
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 |
|
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 |
|
|
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'- GGACATTAGCTTGCTCAGGGAG -3'
(R):5'- CGTTGACCACCATCCACATG -3'
Sequencing Primer
(F):5'- TCTAGGACAGACCCTGGAAGTGTC -3'
(R):5'- CCATCCACATGGGCACG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation