Incidental Mutation 'V7582:Papln'
| ID |
152618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papln
|
| Ensembl Gene |
ENSMUSG00000021223 |
| Gene Name |
papilin, proteoglycan-like sulfated glycoprotein |
| Synonyms |
E030033C16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
V7582 ()
of strain
stinger
|
| Quality Score |
163 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
83763634-83792382 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83778834 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 608
(R608C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021646]
[ENSMUST00000121733]
|
| AlphaFold |
Q9EPX2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021646
AA Change: R608C
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223
AA Change: R608C
| 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: R630C
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223
AA Change: R630C
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,701,257 (GRCm38) |
H102L |
possibly damaging |
Het |
| Ahcy |
G |
A |
2: 155,064,921 (GRCm38) |
R151* |
probably null |
Het |
| Atp6v1h |
A |
G |
1: 5,124,443 (GRCm38) |
T282A |
possibly damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,296,391 (GRCm38) |
G1501S |
probably benign |
Het |
| Dnajc22 |
T |
A |
15: 99,101,482 (GRCm38) |
Y183N |
probably damaging |
Het |
| Dpyd |
C |
T |
3: 118,897,126 (GRCm38) |
Q295* |
probably null |
Het |
| Erv3 |
T |
C |
2: 131,855,926 (GRCm38) |
H171R |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,865 (GRCm38) |
T249A |
probably benign |
Het |
| Fbrsl1 |
C |
T |
5: 110,379,426 (GRCm38) |
A129T |
possibly damaging |
Het |
| Fcgr1 |
T |
C |
3: 96,284,276 (GRCm38) |
*405W |
probably null |
Het |
| Gm4787 |
G |
A |
12: 81,377,567 (GRCm38) |
Q606* |
probably null |
Het |
| Hira |
G |
A |
16: 18,894,821 (GRCm38) |
A29T |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,703,891 (GRCm38) |
T155S |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,710,091 (GRCm38) |
I396V |
probably benign |
Het |
| Lpar5 |
C |
A |
6: 125,081,727 (GRCm38) |
A137E |
possibly damaging |
Het |
| Lrp4 |
C |
T |
2: 91,488,518 (GRCm38) |
S900L |
possibly damaging |
Het |
| Med20 |
G |
A |
17: 47,618,832 (GRCm38) |
V65M |
probably damaging |
Het |
| Myrfl |
T |
C |
10: 116,861,530 (GRCm38) |
T30A |
probably damaging |
Het |
| Olfr1406 |
G |
T |
1: 173,183,964 (GRCm38) |
L157I |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,344,838 (GRCm38) |
L432Q |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,398,150 (GRCm38) |
T257S |
probably damaging |
Het |
| Pik3cd |
A |
C |
4: 149,657,319 (GRCm38) |
L390R |
probably damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,654,618 (GRCm38) |
T112A |
probably benign |
Het |
| Rbbp8nl |
T |
A |
2: 180,278,208 (GRCm38) |
T558S |
probably benign |
Het |
| Rundc3b |
TGCCGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGCCGC |
5: 8,622,549 (GRCm38) |
|
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,689,538 (GRCm38) |
M136L |
probably benign |
Het |
| Spaca1 |
T |
C |
4: 34,039,311 (GRCm38) |
E192G |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,407,190 (GRCm38) |
Y253N |
probably benign |
Het |
| Tiam1 |
C |
T |
16: 89,865,271 (GRCm38) |
R653H |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,723,326 (GRCm38) |
R770H |
probably damaging |
Het |
| Toe1 |
A |
T |
4: 116,806,111 (GRCm38) |
N56K |
probably damaging |
Het |
| Tprkb |
A |
G |
6: 85,928,782 (GRCm38) |
K150E |
probably damaging |
Het |
| Wdr60 |
A |
C |
12: 116,211,840 (GRCm38) |
S906A |
possibly damaging |
Het |
| Zfp292 |
C |
T |
4: 34,806,783 (GRCm38) |
C2087Y |
possibly damaging |
Het |
| Zfp933 |
G |
A |
4: 147,826,470 (GRCm38) |
A223V |
probably damaging |
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 |
|
R9291:Papln
|
UTSW |
12 |
83,778,510 (GRCm38) |
missense |
probably benign |
0.01 |
|
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 |
|
Z1088:Papln
|
UTSW |
12 |
83,776,376 (GRCm38) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACTTGGTTCCCTACAGAGGTCCC -3'
(R):5'- AGTCTCAACCCACCTGCTCTGAAG -3'
Sequencing Primer
(F):5'- CGGGACCTATCATCTATGAGTCTG -3'
(R):5'- CACCTGCTCTGAAGACATGAGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation