Incidental Mutation 'R9291:Papln'
| ID |
704296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papln
|
| Ensembl Gene |
ENSMUSG00000021223 |
| Gene Name |
papilin, proteoglycan-like sulfated glycoprotein |
| Synonyms |
E030033C16Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
83763634-83792382 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83778510 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 575
(T575N)
|
| 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: T553N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: T553N
| 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: T575N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: T575N
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 138,066,703 (GRCm38) |
N551S |
probably benign |
Het |
| Abcg5 |
C |
A |
17: 84,668,952 (GRCm38) |
V486L |
probably benign |
Het |
| Acoxl |
T |
A |
2: 127,972,573 (GRCm38) |
I303N |
probably damaging |
Het |
| Atp6v1h |
G |
T |
1: 5,150,061 (GRCm38) |
W464L |
probably null |
Het |
| Cdcp2 |
A |
G |
4: 107,106,856 (GRCm38) |
D301G |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,538,862 (GRCm38) |
D115G |
probably benign |
Het |
| Cnfn |
T |
C |
7: 25,368,051 (GRCm38) |
D67G |
possibly damaging |
Het |
| Col27a1 |
A |
C |
4: 63,224,302 (GRCm38) |
I76L |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,792,201 (GRCm38) |
V865I |
probably damaging |
Het |
| Ctf1 |
T |
A |
7: 127,717,032 (GRCm38) |
L58Q |
probably damaging |
Het |
| Dennd6b |
C |
T |
15: 89,187,387 (GRCm38) |
V276M |
possibly damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,973,493 (GRCm38) |
T483A |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,191,161 (GRCm38) |
T223A |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,027,516 (GRCm38) |
E2372K |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,725,125 (GRCm38) |
I1772T |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,447,953 (GRCm38) |
I170T |
probably damaging |
Het |
| Ehd4 |
G |
T |
2: 120,091,274 (GRCm38) |
D500E |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,992,316 (GRCm38) |
I388T |
probably damaging |
Het |
| Entpd6 |
G |
A |
2: 150,767,039 (GRCm38) |
V348M |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,012,850 (GRCm38) |
C1746* |
probably null |
Het |
| Exosc2 |
G |
T |
2: 31,670,859 (GRCm38) |
M40I |
probably benign |
Het |
| Fam193a |
T |
C |
5: 34,436,491 (GRCm38) |
Y27H |
probably damaging |
Het |
| Gm13084 |
A |
T |
4: 143,812,681 (GRCm38) |
Y81N |
probably benign |
Het |
| Gm8005 |
A |
G |
14: 42,436,928 (GRCm38) |
F148L |
|
Het |
| Hectd4 |
T |
C |
5: 121,348,965 (GRCm38) |
V3341A |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,316,937 (GRCm38) |
V77A |
probably benign |
Het |
| Irf2bp1 |
T |
A |
7: 19,004,533 (GRCm38) |
C33S |
probably damaging |
Het |
| Kank4 |
A |
T |
4: 98,778,451 (GRCm38) |
H586Q |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 25,900,013 (GRCm38) |
N619S |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,895,224 (GRCm38) |
E13G |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,480,035 (GRCm38) |
D2731E |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,709,353 (GRCm38) |
N2942S |
probably benign |
Het |
| Maml3 |
G |
A |
3: 51,856,907 (GRCm38) |
T212M |
probably benign |
Het |
| Mill2 |
T |
C |
7: 18,841,491 (GRCm38) |
V41A |
probably benign |
Het |
| Moxd2 |
C |
A |
6: 40,880,428 (GRCm38) |
C466F |
probably damaging |
Het |
| Nefh |
A |
G |
11: 4,940,871 (GRCm38) |
S583P |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 20,024,586 (GRCm38) |
S583T |
possibly damaging |
Het |
| Nup214 |
T |
G |
2: 31,977,794 (GRCm38) |
M91R |
probably benign |
Het |
| Olfr1055 |
A |
T |
2: 86,347,424 (GRCm38) |
I114N |
probably benign |
Het |
| Olfr1226 |
A |
C |
2: 89,193,794 (GRCm38) |
M80R |
possibly damaging |
Het |
| Olfr776 |
T |
C |
10: 129,261,333 (GRCm38) |
I124T |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 79,646,323 (GRCm38) |
Y90C |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,569,976 (GRCm38) |
N3417K |
probably damaging |
Het |
| Pop7 |
A |
G |
5: 137,501,649 (GRCm38) |
*141Q |
probably null |
Het |
| Rchy1 |
A |
G |
5: 91,951,906 (GRCm38) |
L191S |
possibly damaging |
Het |
| Rims1 |
T |
C |
1: 22,397,522 (GRCm38) |
D296G |
|
Het |
| Sftpb |
T |
A |
6: 72,309,897 (GRCm38) |
C261* |
probably null |
Het |
| Sgcd |
C |
T |
11: 46,979,339 (GRCm38) |
C265Y |
probably damaging |
Het |
| Slc44a5 |
G |
A |
3: 154,256,581 (GRCm38) |
V384M |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 137,046,796 (GRCm38) |
N132K |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,496,396 (GRCm38) |
T4861M |
probably damaging |
Het |
| Swt1 |
T |
A |
1: 151,410,943 (GRCm38) |
E266V |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,261,121 (GRCm38) |
D903G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,729,482 (GRCm38) |
M165K |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,795,502 (GRCm38) |
N282S |
probably damaging |
Het |
| Tom1l2 |
T |
C |
11: 60,262,730 (GRCm38) |
I140M |
probably benign |
Het |
| Trak2 |
A |
G |
1: 58,903,899 (GRCm38) |
S783P |
probably damaging |
Het |
| Trpv4 |
G |
A |
5: 114,630,007 (GRCm38) |
T534M |
probably benign |
Het |
| Ttc6 |
G |
T |
12: 57,575,944 (GRCm38) |
R43M |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,244,705 (GRCm38) |
Y164C |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,776,761 (GRCm38) |
Y165C |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,846,913 (GRCm38) |
T2614K |
probably damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,647,962 (GRCm38) |
F102S |
probably benign |
Het |
| Zyg11b |
A |
G |
4: 108,250,817 (GRCm38) |
M464T |
probably benign |
Het |
|
| Other mutations in Papln |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00824:Papln
|
APN |
12 |
83,770,436 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL01788:Papln
|
APN |
12 |
83,775,462 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL01889:Papln
|
APN |
12 |
83,786,835 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02499:Papln
|
APN |
12 |
83,780,671 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02567:Papln
|
APN |
12 |
83,778,837 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03150:Papln
|
APN |
12 |
83,782,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03331:Papln
|
APN |
12 |
83,783,661 (GRCm38) |
missense |
probably benign |
|
|
F5770:Papln
|
UTSW |
12 |
83,778,834 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R0201:Papln
|
UTSW |
12 |
83,783,027 (GRCm38) |
splice site |
probably benign |
|
|
R0389:Papln
|
UTSW |
12 |
83,783,379 (GRCm38) |
nonsense |
probably null |
|
|
R0763:Papln
|
UTSW |
12 |
83,791,865 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1508:Papln
|
UTSW |
12 |
83,782,916 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1628:Papln
|
UTSW |
12 |
83,784,406 (GRCm38) |
splice site |
probably benign |
|
|
R1920:Papln
|
UTSW |
12 |
83,789,254 (GRCm38) |
nonsense |
probably null |
|
|
R1974:Papln
|
UTSW |
12 |
83,782,037 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2004:Papln
|
UTSW |
12 |
83,773,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2105:Papln
|
UTSW |
12 |
83,780,236 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2876:Papln
|
UTSW |
12 |
83,778,927 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4199:Papln
|
UTSW |
12 |
83,783,392 (GRCm38) |
missense |
probably null |
0.01 |
|
R4702:Papln
|
UTSW |
12 |
83,781,983 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4705:Papln
|
UTSW |
12 |
83,777,208 (GRCm38) |
splice site |
probably null |
|
|
R4835:Papln
|
UTSW |
12 |
83,774,420 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4874:Papln
|
UTSW |
12 |
83,777,143 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4938:Papln
|
UTSW |
12 |
83,782,903 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5000:Papln
|
UTSW |
12 |
83,774,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5149:Papln
|
UTSW |
12 |
83,771,882 (GRCm38) |
splice site |
probably null |
|
|
R5324:Papln
|
UTSW |
12 |
83,774,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5784:Papln
|
UTSW |
12 |
83,781,980 (GRCm38) |
missense |
probably benign |
|
|
R5881:Papln
|
UTSW |
12 |
83,771,878 (GRCm38) |
missense |
probably null |
0.91 |
|
R5977:Papln
|
UTSW |
12 |
83,784,369 (GRCm38) |
nonsense |
probably null |
|
|
R6035:Papln
|
UTSW |
12 |
83,774,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6035:Papln
|
UTSW |
12 |
83,774,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6291:Papln
|
UTSW |
12 |
83,783,015 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6461:Papln
|
UTSW |
12 |
83,781,813 (GRCm38) |
splice site |
probably null |
|
|
R6536:Papln
|
UTSW |
12 |
83,781,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6861:Papln
|
UTSW |
12 |
83,774,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6898:Papln
|
UTSW |
12 |
83,777,460 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6953:Papln
|
UTSW |
12 |
83,781,885 (GRCm38) |
nonsense |
probably null |
|
|
R7155:Papln
|
UTSW |
12 |
83,776,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7450:Papln
|
UTSW |
12 |
83,780,171 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7510:Papln
|
UTSW |
12 |
83,772,173 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7850:Papln
|
UTSW |
12 |
83,780,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7977:Papln
|
UTSW |
12 |
83,775,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7987:Papln
|
UTSW |
12 |
83,775,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8321:Papln
|
UTSW |
12 |
83,774,941 (GRCm38) |
nonsense |
probably null |
|
|
R8324:Papln
|
UTSW |
12 |
83,786,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8466:Papln
|
UTSW |
12 |
83,778,481 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8743:Papln
|
UTSW |
12 |
83,782,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8790:Papln
|
UTSW |
12 |
83,777,144 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9086:Papln
|
UTSW |
12 |
83,774,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9350:Papln
|
UTSW |
12 |
83,786,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9438:Papln
|
UTSW |
12 |
83,771,832 (GRCm38) |
missense |
probably benign |
|
|
R9484:Papln
|
UTSW |
12 |
83,791,844 (GRCm38) |
missense |
probably benign |
0.05 |
|
V7580:Papln
|
UTSW |
12 |
83,778,834 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
V7581:Papln
|
UTSW |
12 |
83,778,834 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
V7582:Papln
|
UTSW |
12 |
83,778,834 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
Z1088:Papln
|
UTSW |
12 |
83,776,376 (GRCm38) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTAACAGGACTTAGTTTTGC -3'
(R):5'- CCACTGTGATGTACCAACGC -3'
Sequencing Primer
(F):5'- CTGCAGAAAATCTTGGAGCC -3'
(R):5'- GTGATGTACCAACGCCCCTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation