Incidental Mutation 'R4874:Papln'
| ID |
376789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papln
|
| Ensembl Gene |
ENSMUSG00000021223 |
| Gene Name |
papilin, proteoglycan-like sulfated glycoprotein |
| Synonyms |
E030033C16Rik |
| MMRRC Submission |
042484-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4874 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
83810408-83839156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83823917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 499
(V499L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021646]
[ENSMUST00000121733]
|
| AlphaFold |
Q9EPX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021646
AA Change: V477L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: V477L
| 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 benign
Transcript: ENSMUST00000121733
AA Change: V499L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: V499L
| 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 |
0.0663 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (51/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
G |
A |
8: 60,969,147 (GRCm39) |
|
probably null |
Het |
| Adamtsl1 |
A |
G |
4: 86,260,729 (GRCm39) |
N988S |
possibly damaging |
Het |
| Aph1b |
A |
T |
9: 66,697,878 (GRCm39) |
|
probably null |
Het |
| B4galnt3 |
C |
A |
6: 120,184,167 (GRCm39) |
R880L |
probably damaging |
Het |
| Bcam |
T |
C |
7: 19,503,247 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,858,878 (GRCm39) |
I14N |
possibly damaging |
Het |
| Dcdc5 |
T |
C |
2: 106,198,451 (GRCm39) |
|
noncoding transcript |
Het |
| Dll1 |
A |
T |
17: 15,590,501 (GRCm39) |
M405K |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,775,810 (GRCm39) |
D428G |
probably benign |
Het |
| Esp36 |
A |
T |
17: 38,727,987 (GRCm39) |
M98K |
unknown |
Het |
| Foxd2 |
G |
T |
4: 114,764,768 (GRCm39) |
H417Q |
possibly damaging |
Het |
| Glrb |
T |
C |
3: 80,758,349 (GRCm39) |
N304D |
possibly damaging |
Het |
| Haus3 |
A |
G |
5: 34,324,972 (GRCm39) |
V229A |
probably benign |
Het |
| Hpgd |
A |
T |
8: 56,770,838 (GRCm39) |
I159F |
possibly damaging |
Het |
| Ighv1-22 |
T |
A |
12: 114,710,036 (GRCm39) |
I70F |
probably benign |
Het |
| Il16 |
A |
T |
7: 83,310,153 (GRCm39) |
F584L |
possibly damaging |
Het |
| Lamc2 |
T |
C |
1: 153,030,141 (GRCm39) |
D167G |
probably null |
Het |
| Megf10 |
G |
A |
18: 57,426,930 (GRCm39) |
V1083I |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,592,079 (GRCm39) |
S268P |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,310,500 (GRCm39) |
D132G |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,371,756 (GRCm39) |
N419D |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,565,082 (GRCm39) |
L56S |
probably damaging |
Het |
| Nup214 |
A |
G |
2: 31,870,596 (GRCm39) |
|
probably null |
Het |
| Opn5 |
C |
G |
17: 42,891,610 (GRCm39) |
A276P |
probably damaging |
Het |
| Or10j5 |
A |
G |
1: 172,785,166 (GRCm39) |
E268G |
probably benign |
Het |
| Or2d3 |
C |
T |
7: 106,490,642 (GRCm39) |
V225I |
probably benign |
Het |
| Or5t9 |
T |
A |
2: 86,659,598 (GRCm39) |
H167Q |
probably damaging |
Het |
| Pgap1 |
A |
T |
1: 54,569,296 (GRCm39) |
W357R |
probably damaging |
Het |
| Pibf1 |
T |
C |
14: 99,377,992 (GRCm39) |
Y373H |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,162,252 (GRCm39) |
|
probably null |
Het |
| Prcd |
T |
A |
11: 116,550,597 (GRCm39) |
W3R |
probably null |
Het |
| Prkaa1 |
A |
G |
15: 5,203,838 (GRCm39) |
N249S |
probably benign |
Het |
| Reg3b |
T |
A |
6: 78,349,809 (GRCm39) |
N116K |
possibly damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,865,360 (GRCm39) |
L19P |
probably benign |
Het |
| Rufy1 |
T |
C |
11: 50,297,277 (GRCm39) |
T392A |
possibly damaging |
Het |
| Sall3 |
T |
C |
18: 81,017,188 (GRCm39) |
K247E |
probably benign |
Het |
| Shank1 |
C |
T |
7: 43,965,497 (GRCm39) |
T191M |
unknown |
Het |
| Slit1 |
C |
T |
19: 41,717,493 (GRCm39) |
|
probably null |
Het |
| Sorl1 |
A |
T |
9: 41,975,048 (GRCm39) |
V520E |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,825 (GRCm39) |
F766Y |
probably damaging |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,608 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp644 |
A |
G |
5: 106,783,279 (GRCm39) |
S1032P |
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 |
|
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 |
|
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'- ATGCCACCTGTTCTCTGAGC -3'
(R):5'- CTTTTAGAGCACTGAAGGCCC -3'
Sequencing Primer
(F):5'- ACCTGTTCTCTGAGCCACAG -3'
(R):5'- ACTGAAGGCCCAGGGTG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation