Incidental Mutation 'R5881:Papln'
| ID |
454437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papln
|
| Ensembl Gene |
ENSMUSG00000021223 |
| Gene Name |
papilin, proteoglycan-like sulfated glycoprotein |
| Synonyms |
E030033C16Rik |
| MMRRC Submission |
044085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5881 (G1)
|
| Quality Score |
126 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
83810408-83839156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83818652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 78
(E78G)
|
| 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: E78G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: E78G
| 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: E78G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: E78G
| 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: 99.9%
- 3x: 99.3%
- 10x: 94.5%
- 20x: 78.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
A |
C |
11: 95,725,213 (GRCm39) |
L159W |
probably damaging |
Het |
| Abi3 |
A |
T |
11: 95,725,214 (GRCm39) |
L159M |
probably damaging |
Het |
| Adam11 |
A |
C |
11: 102,664,636 (GRCm39) |
I406L |
probably benign |
Het |
| Ager |
G |
T |
17: 34,819,051 (GRCm39) |
V300L |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,822,660 (GRCm39) |
S1726L |
probably benign |
Het |
| Boc |
A |
G |
16: 44,311,014 (GRCm39) |
I740T |
probably damaging |
Het |
| C8a |
T |
A |
4: 104,711,129 (GRCm39) |
D178V |
probably damaging |
Het |
| Ces3a |
G |
A |
8: 105,777,198 (GRCm39) |
V174M |
probably damaging |
Het |
| Cisd1 |
A |
T |
10: 71,172,244 (GRCm39) |
W13R |
probably damaging |
Het |
| Commd8 |
A |
T |
5: 72,320,107 (GRCm39) |
D111E |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,490,104 (GRCm39) |
D1691V |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,065,479 (GRCm39) |
Y15C |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,864,013 (GRCm39) |
V24A |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,538,640 (GRCm39) |
T968M |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,787,168 (GRCm39) |
F1122L |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,910,807 (GRCm39) |
F220L |
probably damaging |
Het |
| Entpd2 |
A |
C |
2: 25,290,824 (GRCm39) |
N443H |
probably damaging |
Het |
| Epgn |
A |
G |
5: 91,176,222 (GRCm39) |
N36S |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,814,785 (GRCm39) |
S3506I |
possibly damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,771 (GRCm39) |
S179G |
probably benign |
Het |
| Grifin |
G |
T |
5: 140,549,342 (GRCm39) |
H125N |
possibly damaging |
Het |
| H1f9 |
A |
G |
11: 94,858,989 (GRCm39) |
T95A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,078 (GRCm39) |
V3816A |
probably damaging |
Het |
| Hspa14 |
A |
G |
2: 3,499,207 (GRCm39) |
F196L |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,754,620 (GRCm39) |
K489E |
probably benign |
Het |
| Jmjd6 |
C |
T |
11: 116,730,682 (GRCm39) |
W117* |
probably null |
Het |
| Lrit2 |
G |
T |
14: 36,794,192 (GRCm39) |
A419S |
probably benign |
Het |
| Mc3r |
T |
C |
2: 172,091,092 (GRCm39) |
S105P |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,018,531 (GRCm39) |
V601A |
probably benign |
Het |
| Myo1f |
A |
G |
17: 33,795,627 (GRCm39) |
D91G |
probably damaging |
Het |
| Myo1f |
G |
A |
17: 33,799,259 (GRCm39) |
E255K |
possibly damaging |
Het |
| Necap1 |
T |
A |
6: 122,858,503 (GRCm39) |
D115E |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,786 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
G |
A |
14: 50,272,444 (GRCm39) |
R139C |
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,555,883 (GRCm39) |
M79K |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,326,147 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
A |
G |
8: 117,724,321 (GRCm39) |
I2394T |
probably damaging |
Het |
| Ppa2 |
A |
T |
3: 133,036,200 (GRCm39) |
N118I |
probably damaging |
Het |
| Ppef2 |
A |
T |
5: 92,398,388 (GRCm39) |
C43* |
probably null |
Het |
| Pramel51 |
A |
G |
12: 88,143,111 (GRCm39) |
L169P |
probably damaging |
Het |
| Rab27a |
G |
A |
9: 72,992,321 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
A |
T |
1: 160,169,683 (GRCm39) |
F47I |
probably damaging |
Het |
| Rala |
A |
G |
13: 18,067,746 (GRCm39) |
I95T |
probably damaging |
Het |
| Rgl2 |
A |
G |
17: 34,151,691 (GRCm39) |
D245G |
probably benign |
Het |
| Rnf34 |
A |
T |
5: 123,002,146 (GRCm39) |
T35S |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,057,894 (GRCm39) |
R51Q |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,372,716 (GRCm39) |
D1515G |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,505,870 (GRCm39) |
E1673G |
probably benign |
Het |
| Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
| Tdrd5 |
A |
T |
1: 156,122,070 (GRCm39) |
S280T |
probably damaging |
Het |
| Tent2 |
A |
T |
13: 93,312,246 (GRCm39) |
C180* |
probably null |
Het |
| Tie1 |
T |
C |
4: 118,332,800 (GRCm39) |
I911V |
possibly damaging |
Het |
| Vipas39 |
G |
A |
12: 87,298,581 (GRCm39) |
R194* |
probably null |
Het |
| Ybx3 |
A |
C |
6: 131,345,451 (GRCm39) |
N307K |
possibly damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,088,899 (GRCm39) |
H1216L |
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 |
|
|
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'- GTATGTCAGAGAACATGGGTGC -3'
Sequencing Primer
(F):5'- TTTGGACTCTGGGCCAGCC -3'
(R):5'- GGCTAAGGACCTCCCCTATC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation