Incidental Mutation 'R7177:Papola'
ID |
558713 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Papola
|
Ensembl Gene |
ENSMUSG00000021111 |
Gene Name |
poly (A) polymerase alpha |
Synonyms |
PapIII, Plap |
MMRRC Submission |
045268-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.907)
|
Stock # |
R7177 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
105750953-105805203 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 105775790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 235
(N235K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000164326]
[ENSMUST00000166329]
[ENSMUST00000166735]
[ENSMUST00000168186]
[ENSMUST00000169938]
[ENSMUST00000170002]
[ENSMUST00000170540]
|
AlphaFold |
Q61183 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021535
AA Change: N235K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000021535 Gene: ENSMUSG00000021111 AA Change: N235K
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
17 |
365 |
1.5e-111 |
PFAM |
Pfam:NTP_transf_2
|
75 |
175 |
2.4e-11 |
PFAM |
Pfam:PAP_RNA-bind
|
366 |
508 |
8.9e-38 |
PFAM |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109901
AA Change: N235K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105527 Gene: ENSMUSG00000021111 AA Change: N235K
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
Pfam:PAP_central
|
21 |
364 |
4.1e-120 |
PFAM |
Pfam:NTP_transf_2
|
82 |
175 |
8.1e-16 |
PFAM |
Pfam:PAP_RNA-bind
|
366 |
435 |
4.1e-21 |
PFAM |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163473
AA Change: N235K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131668 Gene: ENSMUSG00000021111 AA Change: N235K
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
17 |
365 |
9.2e-112 |
PFAM |
Pfam:NTP_transf_2
|
75 |
175 |
3.3e-11 |
PFAM |
Pfam:PAP_RNA-bind
|
366 |
508 |
4.6e-38 |
PFAM |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
low complexity region
|
646 |
667 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164326
|
SMART Domains |
Protein: ENSMUSP00000125818 Gene: ENSMUSG00000021111
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
17 |
64 |
9.1e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164798
|
SMART Domains |
Protein: ENSMUSP00000125898 Gene: ENSMUSG00000021111
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
1 |
36 |
5.3e-8 |
PFAM |
Pfam:PAP_RNA-bind
|
38 |
106 |
8.5e-22 |
PFAM |
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
low complexity region
|
276 |
293 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166329
|
SMART Domains |
Protein: ENSMUSP00000131725 Gene: ENSMUSG00000021111
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
17 |
99 |
4.8e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166471
|
SMART Domains |
Protein: ENSMUSP00000132353 Gene: ENSMUSG00000021111
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
1 |
53 |
9.5e-21 |
PFAM |
Pfam:PAP_RNA-bind
|
55 |
123 |
1.3e-21 |
PFAM |
low complexity region
|
207 |
223 |
N/A |
INTRINSIC |
low complexity region
|
272 |
283 |
N/A |
INTRINSIC |
low complexity region
|
294 |
311 |
N/A |
INTRINSIC |
low complexity region
|
335 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166735
AA Change: N235K
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128908 Gene: ENSMUSG00000021111 AA Change: N235K
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
17 |
283 |
9.4e-73 |
PFAM |
Pfam:NTP_transf_2
|
72 |
175 |
5.7e-12 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168186
AA Change: N235K
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128402 Gene: ENSMUSG00000021111 AA Change: N235K
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
17 |
365 |
1.1e-111 |
PFAM |
Pfam:NTP_transf_2
|
75 |
175 |
3.6e-11 |
PFAM |
Pfam:PAP_RNA-bind
|
366 |
508 |
5e-38 |
PFAM |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
low complexity region
|
698 |
712 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000130798 Gene: ENSMUSG00000021111 AA Change: N50K
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
1 |
95 |
5e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169938
|
SMART Domains |
Protein: ENSMUSP00000130687 Gene: ENSMUSG00000021111
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
17 |
157 |
4.5e-17 |
PFAM |
Pfam:NTP_transf_2
|
74 |
166 |
2.3e-11 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170002
AA Change: N235K
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126275 Gene: ENSMUSG00000021111 AA Change: N235K
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
17 |
365 |
1e-111 |
PFAM |
Pfam:NTP_transf_2
|
75 |
175 |
3.5e-11 |
PFAM |
Pfam:PAP_RNA-bind
|
366 |
508 |
4.8e-38 |
PFAM |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
low complexity region
|
646 |
663 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170540
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
T |
C |
9: 53,325,685 (GRCm39) |
L74S |
probably damaging |
Het |
5730409E04Rik |
A |
G |
4: 126,505,525 (GRCm39) |
S18G |
probably benign |
Het |
Adam29 |
A |
G |
8: 56,325,659 (GRCm39) |
I265T |
probably benign |
Het |
Aff4 |
C |
T |
11: 53,297,466 (GRCm39) |
S896L |
probably benign |
Het |
Ankrd27 |
T |
C |
7: 35,318,822 (GRCm39) |
I571T |
probably damaging |
Het |
Bdp1 |
C |
A |
13: 100,186,478 (GRCm39) |
R1658I |
probably damaging |
Het |
Carm1 |
C |
T |
9: 21,458,323 (GRCm39) |
T7M |
unknown |
Het |
Ccdc183 |
A |
G |
2: 25,506,296 (GRCm39) |
V100A |
probably damaging |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Ceacam2 |
T |
G |
7: 25,220,341 (GRCm39) |
D239A |
probably benign |
Het |
Cfap96 |
T |
A |
8: 46,423,444 (GRCm39) |
E89D |
possibly damaging |
Het |
Cimap1c |
T |
A |
9: 56,757,262 (GRCm39) |
M139L |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,231,836 (GRCm39) |
D1084G |
probably benign |
Het |
Cog5 |
T |
A |
12: 31,810,888 (GRCm39) |
I194K |
probably damaging |
Het |
Col20a1 |
C |
T |
2: 180,636,007 (GRCm39) |
Q211* |
probably null |
Het |
Col9a1 |
T |
A |
1: 24,234,498 (GRCm39) |
L13Q |
unknown |
Het |
Cracr2a |
A |
T |
6: 127,585,669 (GRCm39) |
M156L |
probably benign |
Het |
Cts8 |
C |
T |
13: 61,399,505 (GRCm39) |
M151I |
possibly damaging |
Het |
Cyp2ab1 |
A |
T |
16: 20,135,469 (GRCm39) |
L11Q |
probably null |
Het |
Dhrs13 |
T |
A |
11: 77,925,208 (GRCm39) |
C160S |
probably benign |
Het |
Enthd1 |
T |
A |
15: 80,358,415 (GRCm39) |
E368D |
probably damaging |
Het |
Fbh1 |
A |
G |
2: 11,760,522 (GRCm39) |
I676T |
probably damaging |
Het |
Fcgrt |
T |
C |
7: 44,751,421 (GRCm39) |
R176G |
probably benign |
Het |
Gatd1 |
A |
G |
7: 140,990,947 (GRCm39) |
F67L |
possibly damaging |
Het |
Gm4353 |
G |
A |
7: 115,683,727 (GRCm39) |
P23S |
probably damaging |
Het |
Gm6882 |
T |
A |
7: 21,161,677 (GRCm39) |
I64F |
possibly damaging |
Het |
Grwd1 |
A |
T |
7: 45,480,204 (GRCm39) |
M1K |
probably null |
Het |
Hook2 |
T |
A |
8: 85,718,046 (GRCm39) |
S58T |
probably benign |
Het |
Iqch |
T |
G |
9: 63,329,117 (GRCm39) |
*1072C |
probably null |
Het |
Kmt2d |
G |
A |
15: 98,748,267 (GRCm39) |
T3019I |
unknown |
Het |
Lmx1a |
T |
C |
1: 167,674,247 (GRCm39) |
S356P |
probably benign |
Het |
Lrig3 |
A |
G |
10: 125,842,712 (GRCm39) |
M546V |
probably benign |
Het |
Lrrc1 |
C |
A |
9: 77,379,504 (GRCm39) |
E96* |
probably null |
Het |
Lrtm2 |
C |
A |
6: 119,294,113 (GRCm39) |
M339I |
probably damaging |
Het |
Map10 |
T |
C |
8: 126,398,584 (GRCm39) |
V659A |
probably benign |
Het |
Map7d1 |
A |
G |
4: 126,130,778 (GRCm39) |
C384R |
probably damaging |
Het |
Mcur1 |
T |
C |
13: 43,698,012 (GRCm39) |
D296G |
probably damaging |
Het |
Mettl24 |
A |
T |
10: 40,686,508 (GRCm39) |
H295L |
probably damaging |
Het |
Mgat4f |
T |
C |
1: 134,318,163 (GRCm39) |
S312P |
probably benign |
Het |
Mpl |
A |
G |
4: 118,305,741 (GRCm39) |
|
probably null |
Het |
Mrps5 |
T |
C |
2: 127,437,617 (GRCm39) |
V148A |
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,964,891 (GRCm39) |
V980A |
probably damaging |
Het |
Ncaph |
A |
T |
2: 126,958,506 (GRCm39) |
D504E |
probably damaging |
Het |
Nxph1 |
A |
G |
6: 9,247,497 (GRCm39) |
N156S |
probably damaging |
Het |
Or2t26 |
T |
A |
11: 49,040,012 (GRCm39) |
C309* |
probably null |
Het |
Or4f14b |
T |
A |
2: 111,775,501 (GRCm39) |
Q100L |
probably damaging |
Het |
Pafah1b3 |
T |
A |
7: 24,994,657 (GRCm39) |
I186L |
probably benign |
Het |
Pcnx3 |
A |
T |
19: 5,737,527 (GRCm39) |
M98K |
probably benign |
Het |
Pip4p1 |
A |
C |
14: 51,167,634 (GRCm39) |
M104R |
possibly damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,330,800 (GRCm39) |
N125S |
probably damaging |
Het |
Pls1 |
T |
A |
9: 95,655,612 (GRCm39) |
H380L |
probably benign |
Het |
Plxna1 |
T |
C |
6: 89,300,311 (GRCm39) |
T1591A |
possibly damaging |
Het |
Pparg |
T |
G |
6: 115,418,581 (GRCm39) |
S147A |
probably benign |
Het |
Prdm10 |
T |
C |
9: 31,279,003 (GRCm39) |
S1025P |
probably benign |
Het |
Prkcd |
T |
A |
14: 30,321,664 (GRCm39) |
H510L |
probably damaging |
Het |
Ptprh |
T |
A |
7: 4,572,480 (GRCm39) |
E499D |
possibly damaging |
Het |
Rad51ap1 |
A |
G |
6: 126,901,983 (GRCm39) |
S256P |
probably benign |
Het |
Rad54b |
A |
G |
4: 11,599,755 (GRCm39) |
T320A |
probably damaging |
Het |
Rnf207 |
A |
G |
4: 152,396,634 (GRCm39) |
I459T |
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,731,188 (GRCm39) |
D727E |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,720,795 (GRCm39) |
R1378H |
possibly damaging |
Het |
Slc7a11 |
A |
G |
3: 50,397,680 (GRCm39) |
S11P |
probably benign |
Het |
Sox4 |
A |
G |
13: 29,137,000 (GRCm39) |
V2A |
probably damaging |
Het |
Srf |
A |
G |
17: 46,866,318 (GRCm39) |
F146S |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,035,747 (GRCm39) |
V797A |
unknown |
Het |
Stk32c |
T |
C |
7: 138,684,218 (GRCm39) |
D463G |
possibly damaging |
Het |
Syne2 |
C |
A |
12: 76,018,654 (GRCm39) |
Y3384* |
probably null |
Het |
Tektl1 |
T |
C |
10: 78,588,324 (GRCm39) |
D162G |
probably damaging |
Het |
Traip |
T |
A |
9: 107,838,184 (GRCm39) |
M139K |
possibly damaging |
Het |
Trappc2l |
T |
A |
8: 123,341,051 (GRCm39) |
F100Y |
probably damaging |
Het |
Ush1c |
T |
C |
7: 45,878,643 (GRCm39) |
D124G |
probably damaging |
Het |
Uty |
A |
G |
Y: 1,099,691 (GRCm39) |
V1168A |
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,816,882 (GRCm39) |
D233G |
possibly damaging |
Het |
Zdbf2 |
C |
T |
1: 63,334,120 (GRCm39) |
R31C |
possibly damaging |
Het |
|
Other mutations in Papola |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01140:Papola
|
APN |
12 |
105,775,856 (GRCm39) |
nonsense |
probably null |
|
IGL02197:Papola
|
APN |
12 |
105,795,442 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02511:Papola
|
APN |
12 |
105,775,604 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02608:Papola
|
APN |
12 |
105,775,818 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03081:Papola
|
APN |
12 |
105,785,114 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03378:Papola
|
APN |
12 |
105,775,692 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03401:Papola
|
APN |
12 |
105,795,381 (GRCm39) |
missense |
probably benign |
0.19 |
R0027:Papola
|
UTSW |
12 |
105,799,395 (GRCm39) |
missense |
probably benign |
0.12 |
R0027:Papola
|
UTSW |
12 |
105,799,395 (GRCm39) |
missense |
probably benign |
0.12 |
R0325:Papola
|
UTSW |
12 |
105,773,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R0372:Papola
|
UTSW |
12 |
105,785,097 (GRCm39) |
missense |
probably benign |
0.05 |
R1553:Papola
|
UTSW |
12 |
105,786,669 (GRCm39) |
missense |
probably benign |
0.30 |
R1746:Papola
|
UTSW |
12 |
105,773,468 (GRCm39) |
missense |
probably benign |
0.12 |
R1954:Papola
|
UTSW |
12 |
105,794,532 (GRCm39) |
splice site |
probably null |
|
R2424:Papola
|
UTSW |
12 |
105,793,311 (GRCm39) |
missense |
probably benign |
0.02 |
R4133:Papola
|
UTSW |
12 |
105,765,917 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4156:Papola
|
UTSW |
12 |
105,767,010 (GRCm39) |
critical splice donor site |
probably null |
|
R4718:Papola
|
UTSW |
12 |
105,786,707 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4814:Papola
|
UTSW |
12 |
105,765,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R5115:Papola
|
UTSW |
12 |
105,793,219 (GRCm39) |
missense |
probably benign |
0.08 |
R5237:Papola
|
UTSW |
12 |
105,793,219 (GRCm39) |
missense |
probably benign |
0.08 |
R5372:Papola
|
UTSW |
12 |
105,793,309 (GRCm39) |
missense |
probably benign |
0.00 |
R5420:Papola
|
UTSW |
12 |
105,772,754 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5430:Papola
|
UTSW |
12 |
105,775,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R5831:Papola
|
UTSW |
12 |
105,789,859 (GRCm39) |
missense |
probably benign |
0.01 |
R5944:Papola
|
UTSW |
12 |
105,778,644 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5956:Papola
|
UTSW |
12 |
105,777,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R6143:Papola
|
UTSW |
12 |
105,793,219 (GRCm39) |
missense |
probably benign |
0.08 |
R6193:Papola
|
UTSW |
12 |
105,786,605 (GRCm39) |
missense |
probably benign |
0.42 |
R6413:Papola
|
UTSW |
12 |
105,772,763 (GRCm39) |
start gained |
probably benign |
|
R6490:Papola
|
UTSW |
12 |
105,771,196 (GRCm39) |
missense |
probably benign |
0.40 |
R6649:Papola
|
UTSW |
12 |
105,778,566 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6891:Papola
|
UTSW |
12 |
105,775,950 (GRCm39) |
unclassified |
probably benign |
|
R7147:Papola
|
UTSW |
12 |
105,774,897 (GRCm39) |
start gained |
probably benign |
|
R7178:Papola
|
UTSW |
12 |
105,773,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R7256:Papola
|
UTSW |
12 |
105,775,604 (GRCm39) |
missense |
probably damaging |
0.99 |
R7583:Papola
|
UTSW |
12 |
105,777,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R8093:Papola
|
UTSW |
12 |
105,775,836 (GRCm39) |
missense |
probably damaging |
0.96 |
R8945:Papola
|
UTSW |
12 |
105,775,946 (GRCm39) |
unclassified |
probably benign |
|
R9177:Papola
|
UTSW |
12 |
105,766,032 (GRCm39) |
missense |
probably benign |
0.00 |
R9249:Papola
|
UTSW |
12 |
105,799,403 (GRCm39) |
missense |
probably benign |
0.00 |
R9268:Papola
|
UTSW |
12 |
105,766,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCATTAATCAGGTTGCAGGG -3'
(R):5'- AACCAGCTGTAGAAATGTCACAG -3'
Sequencing Primer
(F):5'- CATCAAACTGTGGGCCAA -3'
(R):5'- AAGACTAAACTTCAGTGTCTACAATC -3'
|
Posted On |
2019-06-26 |