Incidental Mutation 'R6953:Papln'
| ID |
541328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papln
|
| Ensembl Gene |
ENSMUSG00000021223 |
| Gene Name |
papilin, proteoglycan-like sulfated glycoprotein |
| Synonyms |
E030033C16Rik |
| MMRRC Submission |
045065-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6953 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
83810408-83839156 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 83828659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 788
(W788*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021646]
[ENSMUST00000121733]
|
| AlphaFold |
Q9EPX2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021646
AA Change: W766*
|
| SMART Domains |
Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: W766*
| 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
AA Change: W788*
|
| SMART Domains |
Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: W788*
| 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: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
C |
A |
15: 57,892,223 (GRCm39) |
S128I |
probably damaging |
Het |
| Aadacl2 |
A |
C |
3: 59,932,181 (GRCm39) |
H232P |
possibly damaging |
Het |
| Abcc3 |
A |
G |
11: 94,265,661 (GRCm39) |
Y125H |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,865,592 (GRCm39) |
S84P |
probably damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,192,142 (GRCm39) |
K71* |
probably null |
Het |
| Ap2m1 |
T |
A |
16: 20,361,468 (GRCm39) |
W381R |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,521,762 (GRCm39) |
I426V |
probably benign |
Het |
| BC024063 |
T |
A |
10: 81,943,733 (GRCm39) |
D31E |
possibly damaging |
Het |
| C3ar1 |
G |
A |
6: 122,827,591 (GRCm39) |
H209Y |
possibly damaging |
Het |
| Ccp110 |
T |
C |
7: 118,321,644 (GRCm39) |
V433A |
possibly damaging |
Het |
| Cfap54 |
A |
G |
10: 92,830,540 (GRCm39) |
S1199P |
probably benign |
Het |
| Cyp24a1 |
T |
G |
2: 170,329,866 (GRCm39) |
D362A |
probably benign |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,829,822 (GRCm39) |
Q633K |
probably benign |
Het |
| Ercc4 |
T |
A |
16: 12,948,550 (GRCm39) |
V499D |
probably damaging |
Het |
| Ier3ip1 |
C |
G |
18: 77,027,309 (GRCm39) |
P46R |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,832 (GRCm39) |
T110A |
probably damaging |
Het |
| Isoc1 |
A |
G |
18: 58,804,374 (GRCm39) |
D134G |
possibly damaging |
Het |
| Kif26b |
A |
G |
1: 178,701,637 (GRCm39) |
D672G |
possibly damaging |
Het |
| Klhl33 |
T |
A |
14: 51,128,973 (GRCm39) |
D752V |
possibly damaging |
Het |
| Lcn4 |
A |
G |
2: 26,559,367 (GRCm39) |
Y133H |
probably benign |
Het |
| Mrs2 |
C |
A |
13: 25,185,771 (GRCm39) |
V134L |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,551,825 (GRCm39) |
T4823A |
probably benign |
Het |
| Ogfod3 |
A |
G |
11: 121,093,824 (GRCm39) |
I62T |
probably benign |
Het |
| Or2m13 |
C |
T |
16: 19,226,278 (GRCm39) |
V164I |
probably benign |
Het |
| Or2y10 |
A |
G |
11: 49,455,117 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or6c204 |
A |
T |
10: 129,022,474 (GRCm39) |
M272K |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,049,299 (GRCm39) |
I296L |
probably benign |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,479 (GRCm39) |
Q153R |
probably benign |
Het |
| Pcdhgb2 |
C |
T |
18: 37,823,807 (GRCm39) |
T266I |
possibly damaging |
Het |
| Pcdhgc5 |
C |
A |
18: 37,953,514 (GRCm39) |
R263S |
possibly damaging |
Het |
| Phactr4 |
T |
C |
4: 132,104,662 (GRCm39) |
T185A |
possibly damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,800,882 (GRCm39) |
D114G |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,632,537 (GRCm39) |
I987N |
probably damaging |
Het |
| Prl3d3 |
A |
G |
13: 27,345,029 (GRCm39) |
M134V |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,778,779 (GRCm39) |
|
probably null |
Het |
| Racgap1 |
T |
C |
15: 99,524,210 (GRCm39) |
E399G |
probably damaging |
Het |
| Sbspon |
A |
T |
1: 15,930,519 (GRCm39) |
S156T |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,149,813 (GRCm39) |
T927A |
probably damaging |
Het |
| Sec23ip |
C |
A |
7: 128,354,520 (GRCm39) |
S78* |
probably null |
Het |
| Serpina1d |
G |
A |
12: 103,733,989 (GRCm39) |
T105I |
probably benign |
Het |
| Slc25a21 |
T |
A |
12: 57,205,954 (GRCm39) |
N26Y |
probably benign |
Het |
| Smim20 |
T |
A |
5: 53,435,258 (GRCm39) |
D64E |
probably damaging |
Het |
| Spag17 |
T |
G |
3: 99,942,291 (GRCm39) |
I772S |
possibly damaging |
Het |
| Tars2 |
T |
C |
3: 95,660,426 (GRCm39) |
T99A |
possibly damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,819,803 (GRCm39) |
T101I |
probably damaging |
Het |
| Tldc2 |
T |
G |
2: 156,931,198 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,601,929 (GRCm39) |
Y10251H |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 187,995,342 (GRCm39) |
R38G |
possibly damaging |
Het |
| Usp19 |
T |
C |
9: 108,376,130 (GRCm39) |
L991P |
possibly damaging |
Het |
| Vmn2r109 |
G |
A |
17: 20,760,973 (GRCm39) |
P795S |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,016,741 (GRCm39) |
Y402H |
probably benign |
Het |
| Vmn2r-ps117 |
T |
G |
17: 19,045,095 (GRCm39) |
I504R |
probably benign |
Het |
| Zfp551 |
A |
T |
7: 12,150,715 (GRCm39) |
C231* |
probably null |
Het |
| Zfp607a |
T |
A |
7: 27,577,790 (GRCm39) |
C287S |
possibly damaging |
Het |
| Zim1 |
T |
A |
7: 6,690,706 (GRCm39) |
T40S |
unknown |
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 |
|
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'- AGGGAGCCCTGGTCTTTTCTTC -3'
(R):5'- CGTTGACCACCATCCACATG -3'
Sequencing Primer
(F):5'- TCTAGGACAGACCCTGGAAGTGTC -3'
(R):5'- CCATCCACATGGGCACG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation