Incidental Mutation 'R4938:Papln'
| ID |
382861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papln
|
| Ensembl Gene |
ENSMUSG00000021223 |
| Gene Name |
papilin, proteoglycan-like sulfated glycoprotein |
| Synonyms |
E030033C16Rik |
| MMRRC Submission |
042537-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4938 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
83810408-83839156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83829677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 911
(P911S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021646]
[ENSMUST00000121733]
|
| AlphaFold |
Q9EPX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021646
AA Change: P911S
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: P911S
| 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: P933S
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: P933S
| 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 |
0.4900 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl14ep |
G |
T |
2: 106,799,663 (GRCm39) |
H59Q |
probably damaging |
Het |
| Atp6v0a4 |
T |
A |
6: 38,055,749 (GRCm39) |
I321F |
possibly damaging |
Het |
| Cdr2l |
A |
G |
11: 115,284,651 (GRCm39) |
D329G |
possibly damaging |
Het |
| Cep55 |
A |
G |
19: 38,058,364 (GRCm39) |
E319G |
probably damaging |
Het |
| Cfhr2 |
C |
T |
1: 139,741,265 (GRCm39) |
V237I |
probably benign |
Het |
| Clasrp |
A |
G |
7: 19,318,703 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
C |
A |
9: 79,607,632 (GRCm39) |
E399* |
probably null |
Het |
| Cyp19a1 |
T |
A |
9: 54,080,647 (GRCm39) |
I237F |
probably benign |
Het |
| Dnajc6 |
T |
G |
4: 101,494,010 (GRCm39) |
N847K |
probably damaging |
Het |
| E330013P04Rik |
C |
G |
19: 60,150,453 (GRCm39) |
|
noncoding transcript |
Het |
| Entpd2 |
A |
G |
2: 25,289,429 (GRCm39) |
T304A |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,803,460 (GRCm39) |
T779A |
probably benign |
Het |
| Fam107b |
A |
T |
2: 3,773,907 (GRCm39) |
I35L |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,920,175 (GRCm39) |
Y318F |
probably benign |
Het |
| Fitm1 |
A |
C |
14: 55,814,076 (GRCm39) |
T191P |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,924,583 (GRCm39) |
M3675V |
probably damaging |
Het |
| Fry |
C |
T |
5: 150,401,454 (GRCm39) |
R731W |
probably damaging |
Het |
| Galnt17 |
A |
T |
5: 131,335,237 (GRCm39) |
S68T |
probably benign |
Het |
| Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
| Grm1 |
C |
T |
10: 10,812,257 (GRCm39) |
A256T |
probably damaging |
Het |
| Hoxd13 |
A |
G |
2: 74,499,027 (GRCm39) |
Y125C |
probably benign |
Het |
| Hspa14 |
A |
T |
2: 3,492,646 (GRCm39) |
I373K |
probably benign |
Het |
| Ifnlr1 |
A |
G |
4: 135,432,593 (GRCm39) |
E343G |
probably benign |
Het |
| Ighv5-9 |
A |
G |
12: 113,625,582 (GRCm39) |
S54P |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,231 (GRCm39) |
G91E |
probably damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,928,892 (GRCm39) |
S594P |
possibly damaging |
Het |
| Kcnq2 |
A |
G |
2: 180,728,766 (GRCm39) |
S548P |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,302,712 (GRCm39) |
R3006W |
probably damaging |
Het |
| Lrrc4c |
A |
T |
2: 97,459,646 (GRCm39) |
I91F |
probably damaging |
Het |
| Mdh1b |
T |
C |
1: 63,750,663 (GRCm39) |
D435G |
probably benign |
Het |
| Mettl3 |
A |
T |
14: 52,537,184 (GRCm39) |
S182T |
probably damaging |
Het |
| Mllt6 |
A |
G |
11: 97,569,233 (GRCm39) |
T862A |
probably benign |
Het |
| Mmp27 |
G |
T |
9: 7,578,983 (GRCm39) |
R412I |
probably damaging |
Het |
| Mstn |
A |
G |
1: 53,105,582 (GRCm39) |
N308S |
possibly damaging |
Het |
| Ncapg |
A |
G |
5: 45,828,551 (GRCm39) |
T101A |
probably benign |
Het |
| Ngf |
C |
T |
3: 102,427,790 (GRCm39) |
R180W |
probably damaging |
Het |
| Notch1 |
G |
A |
2: 26,364,136 (GRCm39) |
Q862* |
probably null |
Het |
| Nsrp1 |
T |
C |
11: 76,936,570 (GRCm39) |
D542G |
probably damaging |
Het |
| Nup214 |
C |
A |
2: 31,873,171 (GRCm39) |
T255K |
probably benign |
Het |
| Or5b21 |
T |
A |
19: 12,839,916 (GRCm39) |
M259K |
probably damaging |
Het |
| Or8b43 |
T |
A |
9: 38,360,679 (GRCm39) |
D170E |
probably benign |
Het |
| Pdxdc1 |
A |
G |
16: 13,693,933 (GRCm39) |
V163A |
probably benign |
Het |
| Plekhj1 |
A |
T |
10: 80,633,609 (GRCm39) |
I76N |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 51,201,025 (GRCm39) |
|
probably null |
Het |
| Polr3gl |
T |
C |
3: 96,487,208 (GRCm39) |
E89G |
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
| Prss37 |
A |
G |
6: 40,491,917 (GRCm39) |
I221T |
possibly damaging |
Het |
| Ptx4 |
C |
T |
17: 25,342,139 (GRCm39) |
Q205* |
probably null |
Het |
| Qsox1 |
T |
C |
1: 155,655,414 (GRCm39) |
E583G |
probably benign |
Het |
| Riok3 |
T |
A |
18: 12,288,300 (GRCm39) |
N492K |
probably benign |
Het |
| Sec13 |
A |
G |
6: 113,712,153 (GRCm39) |
W61R |
probably damaging |
Het |
| Slc20a2 |
T |
C |
8: 23,051,221 (GRCm39) |
V418A |
possibly damaging |
Het |
| Smad9 |
G |
A |
3: 54,696,651 (GRCm39) |
V239I |
probably benign |
Het |
| Stmn2 |
A |
G |
3: 8,610,792 (GRCm39) |
E92G |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,325,537 (GRCm39) |
V775A |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,330,991 (GRCm39) |
I1384L |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,932,606 (GRCm39) |
Y2275C |
probably damaging |
Het |
| Trmo |
G |
T |
4: 46,382,388 (GRCm39) |
T243N |
probably benign |
Het |
| Tyrp1 |
C |
T |
4: 80,758,883 (GRCm39) |
A252V |
probably damaging |
Het |
| Vasp |
T |
C |
7: 18,991,642 (GRCm39) |
*376W |
probably null |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,613 (GRCm39) |
I101V |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,756,837 (GRCm39) |
S257P |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,324,683 (GRCm39) |
C426Y |
probably damaging |
Het |
| Zfp647 |
TGCACG |
TGCACGCACG |
15: 76,795,244 (GRCm39) |
|
probably null |
Het |
| Zfp703 |
C |
A |
8: 27,469,801 (GRCm39) |
H488Q |
probably damaging |
Het |
| Zfp964 |
A |
G |
8: 70,116,758 (GRCm39) |
N452D |
possibly damaging |
Het |
| Zfyve28 |
A |
C |
5: 34,390,698 (GRCm39) |
Y188D |
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 |
|
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'- AACCATTCTGTGTCGGTCGG -3'
(R):5'- CACCAGTATCTTACAGTGCATCTC -3'
Sequencing Primer
(F):5'- CACACATGGTCTGTCCTGTGG -3'
(R):5'- TACAGTGCATCTCTCACGCAGG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation