Incidental Mutation 'R4571:Pan2'
ID |
342147 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pan2
|
Ensembl Gene |
ENSMUSG00000005682 |
Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
Synonyms |
Usp52, 1200014O24Rik |
MMRRC Submission |
041795-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4571 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128144512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 187
(T187A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000218315]
[ENSMUST00000219721]
|
AlphaFold |
Q8BGF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005825
AA Change: T205A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000005825 Gene: ENSMUSG00000005682 AA Change: T205A
Domain | Start | End | E-Value | Type |
low complexity region
|
67 |
79 |
N/A |
INTRINSIC |
SCOP:d1tbga_
|
151 |
357 |
4e-11 |
SMART |
Blast:WD40
|
225 |
271 |
4e-11 |
BLAST |
low complexity region
|
412 |
425 |
N/A |
INTRINSIC |
Pfam:UCH
|
515 |
920 |
2.6e-15 |
PFAM |
Pfam:UCH_1
|
516 |
897 |
9.7e-70 |
PFAM |
low complexity region
|
938 |
949 |
N/A |
INTRINSIC |
EXOIII
|
972 |
1155 |
1.68e-20 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218137
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218315
AA Change: T205A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219255
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219721
AA Change: T187A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219801
|
Meta Mutation Damage Score |
0.0644 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (69/69) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
T |
11: 109,920,884 (GRCm39) |
C1497S |
probably damaging |
Het |
Acoxl |
G |
T |
2: 127,719,727 (GRCm39) |
G163W |
probably damaging |
Het |
Apbb1 |
T |
A |
7: 105,222,969 (GRCm39) |
N214I |
probably damaging |
Het |
Apol7b |
T |
C |
15: 77,307,734 (GRCm39) |
K254E |
probably benign |
Het |
Arl4d |
T |
A |
11: 101,557,969 (GRCm39) |
V165E |
possibly damaging |
Het |
Brca1 |
C |
A |
11: 101,408,192 (GRCm39) |
R1377L |
probably benign |
Het |
Btf3 |
A |
G |
13: 98,449,792 (GRCm39) |
F65L |
probably benign |
Het |
C2 |
T |
C |
17: 35,082,635 (GRCm39) |
N495D |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,607,341 (GRCm39) |
T1188A |
probably benign |
Het |
Chd7 |
C |
A |
4: 8,866,217 (GRCm39) |
D796E |
probably benign |
Het |
Clasp2 |
G |
T |
9: 113,676,789 (GRCm39) |
L173F |
probably damaging |
Het |
Clec4g |
A |
T |
8: 3,768,766 (GRCm39) |
|
probably null |
Het |
Col9a3 |
T |
C |
2: 180,258,159 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
T |
A |
4: 128,373,888 (GRCm39) |
|
probably null |
Het |
Ddx11 |
T |
C |
17: 66,437,768 (GRCm39) |
C165R |
probably benign |
Het |
Dnah7c |
A |
C |
1: 46,572,376 (GRCm39) |
M950L |
probably damaging |
Het |
Dusp23 |
A |
C |
1: 172,460,181 (GRCm39) |
|
probably null |
Het |
Ebag9 |
A |
T |
15: 44,500,158 (GRCm39) |
|
probably null |
Het |
Edn3 |
G |
A |
2: 174,623,697 (GRCm39) |
A211T |
probably benign |
Het |
Eif3e |
G |
A |
15: 43,129,558 (GRCm39) |
T190I |
possibly damaging |
Het |
Fam76a |
T |
C |
4: 132,648,208 (GRCm39) |
H3R |
possibly damaging |
Het |
Gabbr1 |
G |
T |
17: 37,365,128 (GRCm39) |
E138* |
probably null |
Het |
Galc |
T |
C |
12: 98,188,876 (GRCm39) |
T412A |
probably benign |
Het |
Gimap3 |
T |
C |
6: 48,742,654 (GRCm39) |
D92G |
possibly damaging |
Het |
Gin1 |
T |
C |
1: 97,712,801 (GRCm39) |
Y285H |
probably damaging |
Het |
Gm4868 |
A |
G |
5: 125,925,782 (GRCm39) |
|
noncoding transcript |
Het |
Gm7052 |
T |
A |
17: 22,259,405 (GRCm39) |
|
probably benign |
Het |
Gpcpd1 |
T |
A |
2: 132,392,270 (GRCm39) |
E226D |
probably benign |
Het |
Hoxb4 |
T |
C |
11: 96,209,992 (GRCm39) |
S133P |
possibly damaging |
Het |
Hrg |
C |
T |
16: 22,779,972 (GRCm39) |
|
probably benign |
Het |
Insrr |
A |
G |
3: 87,708,194 (GRCm39) |
K212R |
probably benign |
Het |
Ipp |
A |
G |
4: 116,387,655 (GRCm39) |
D411G |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,902,461 (GRCm39) |
F172L |
probably damaging |
Het |
Kdm5d |
T |
C |
Y: 927,110 (GRCm39) |
F616S |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,361,295 (GRCm39) |
|
probably null |
Het |
Lmo7 |
G |
T |
14: 102,125,030 (GRCm39) |
Q496H |
probably damaging |
Het |
Map3k9 |
C |
A |
12: 81,780,865 (GRCm39) |
A432S |
probably benign |
Het |
Nop2 |
T |
G |
6: 125,117,844 (GRCm39) |
|
probably null |
Het |
Nup50l |
T |
A |
6: 96,141,862 (GRCm39) |
N394I |
probably damaging |
Het |
Or10ag53 |
C |
A |
2: 87,082,802 (GRCm39) |
Q174K |
possibly damaging |
Het |
Or2h2 |
T |
C |
17: 37,396,471 (GRCm39) |
I195M |
probably damaging |
Het |
Or5m11b |
A |
T |
2: 85,806,175 (GRCm39) |
E196V |
probably damaging |
Het |
Or6k2 |
A |
T |
1: 173,986,494 (GRCm39) |
N52Y |
possibly damaging |
Het |
Pcmtd2 |
A |
G |
2: 181,484,217 (GRCm39) |
E9G |
possibly damaging |
Het |
Pik3cb |
T |
A |
9: 98,972,310 (GRCm39) |
I283F |
possibly damaging |
Het |
Pkhd1 |
G |
A |
1: 20,683,633 (GRCm39) |
T40I |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,493,296 (GRCm39) |
V1857A |
possibly damaging |
Het |
Polg |
T |
C |
7: 79,110,127 (GRCm39) |
S334G |
probably damaging |
Het |
Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
Rpl5-ps2 |
G |
T |
2: 154,546,156 (GRCm39) |
|
noncoding transcript |
Het |
Slc6a18 |
A |
T |
13: 73,814,489 (GRCm39) |
N468K |
possibly damaging |
Het |
Slco4a1 |
A |
T |
2: 180,106,171 (GRCm39) |
T118S |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,738,688 (GRCm39) |
N3520K |
possibly damaging |
Het |
Tapbp |
C |
A |
17: 34,145,427 (GRCm39) |
D415E |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,576,501 (GRCm39) |
T31A |
probably benign |
Het |
Trpv6 |
C |
T |
6: 41,598,678 (GRCm39) |
R649H |
probably damaging |
Het |
Vmn1r188 |
A |
G |
13: 22,272,688 (GRCm39) |
Y214C |
probably benign |
Het |
Vps8 |
T |
A |
16: 21,254,525 (GRCm39) |
I59N |
probably damaging |
Het |
Wnt9a |
T |
C |
11: 59,222,163 (GRCm39) |
C354R |
probably damaging |
Het |
Zcchc2 |
A |
G |
1: 105,958,987 (GRCm39) |
T1153A |
possibly damaging |
Het |
Zfp30 |
A |
G |
7: 29,492,627 (GRCm39) |
R294G |
probably damaging |
Het |
Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
Het |
Zfp62 |
A |
C |
11: 49,106,568 (GRCm39) |
S220R |
probably damaging |
Het |
Zfp62 |
G |
T |
11: 49,106,569 (GRCm39) |
S220I |
probably damaging |
Het |
Zp3r |
A |
G |
1: 130,505,757 (GRCm39) |
S423P |
probably damaging |
Het |
|
Other mutations in Pan2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00164:Pan2
|
APN |
10 |
128,148,795 (GRCm39) |
nonsense |
probably null |
|
IGL02183:Pan2
|
APN |
10 |
128,144,944 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02219:Pan2
|
APN |
10 |
128,156,221 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02514:Pan2
|
APN |
10 |
128,146,610 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02552:Pan2
|
APN |
10 |
128,154,896 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02623:Pan2
|
APN |
10 |
128,148,768 (GRCm39) |
missense |
probably benign |
|
IGL02860:Pan2
|
APN |
10 |
128,146,604 (GRCm39) |
nonsense |
probably null |
|
IGL03104:Pan2
|
APN |
10 |
128,151,532 (GRCm39) |
splice site |
probably benign |
|
IGL03372:Pan2
|
APN |
10 |
128,150,996 (GRCm39) |
missense |
probably benign |
0.09 |
R0541:Pan2
|
UTSW |
10 |
128,144,091 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0585:Pan2
|
UTSW |
10 |
128,146,384 (GRCm39) |
critical splice donor site |
probably null |
|
R1079:Pan2
|
UTSW |
10 |
128,154,107 (GRCm39) |
missense |
probably damaging |
0.99 |
R1650:Pan2
|
UTSW |
10 |
128,153,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R1847:Pan2
|
UTSW |
10 |
128,140,247 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1867:Pan2
|
UTSW |
10 |
128,149,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R1903:Pan2
|
UTSW |
10 |
128,144,237 (GRCm39) |
missense |
probably damaging |
0.98 |
R1975:Pan2
|
UTSW |
10 |
128,156,282 (GRCm39) |
missense |
probably damaging |
0.99 |
R1976:Pan2
|
UTSW |
10 |
128,156,282 (GRCm39) |
missense |
probably damaging |
0.99 |
R1977:Pan2
|
UTSW |
10 |
128,156,282 (GRCm39) |
missense |
probably damaging |
0.99 |
R2136:Pan2
|
UTSW |
10 |
128,149,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2162:Pan2
|
UTSW |
10 |
128,140,091 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2512:Pan2
|
UTSW |
10 |
128,140,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R2566:Pan2
|
UTSW |
10 |
128,149,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R2900:Pan2
|
UTSW |
10 |
128,144,211 (GRCm39) |
missense |
probably benign |
|
R3957:Pan2
|
UTSW |
10 |
128,151,046 (GRCm39) |
missense |
probably damaging |
0.99 |
R5112:Pan2
|
UTSW |
10 |
128,151,464 (GRCm39) |
nonsense |
probably null |
|
R5120:Pan2
|
UTSW |
10 |
128,150,864 (GRCm39) |
critical splice donor site |
probably null |
|
R5183:Pan2
|
UTSW |
10 |
128,153,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R5325:Pan2
|
UTSW |
10 |
128,153,503 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5539:Pan2
|
UTSW |
10 |
128,144,002 (GRCm39) |
missense |
probably benign |
0.16 |
R5642:Pan2
|
UTSW |
10 |
128,143,969 (GRCm39) |
missense |
probably benign |
0.00 |
R5740:Pan2
|
UTSW |
10 |
128,144,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R5822:Pan2
|
UTSW |
10 |
128,156,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R6766:Pan2
|
UTSW |
10 |
128,150,381 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6902:Pan2
|
UTSW |
10 |
128,151,506 (GRCm39) |
missense |
probably benign |
0.33 |
R6946:Pan2
|
UTSW |
10 |
128,151,506 (GRCm39) |
missense |
probably benign |
0.33 |
R7206:Pan2
|
UTSW |
10 |
128,150,414 (GRCm39) |
nonsense |
probably null |
|
R7490:Pan2
|
UTSW |
10 |
128,144,309 (GRCm39) |
missense |
probably benign |
0.00 |
R7715:Pan2
|
UTSW |
10 |
128,153,592 (GRCm39) |
missense |
probably benign |
0.00 |
R7794:Pan2
|
UTSW |
10 |
128,152,396 (GRCm39) |
splice site |
probably null |
|
R8286:Pan2
|
UTSW |
10 |
128,154,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R9038:Pan2
|
UTSW |
10 |
128,153,810 (GRCm39) |
nonsense |
probably null |
|
R9057:Pan2
|
UTSW |
10 |
128,156,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R9072:Pan2
|
UTSW |
10 |
128,151,050 (GRCm39) |
missense |
probably damaging |
0.98 |
R9073:Pan2
|
UTSW |
10 |
128,151,050 (GRCm39) |
missense |
probably damaging |
0.98 |
R9077:Pan2
|
UTSW |
10 |
128,148,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R9583:Pan2
|
UTSW |
10 |
128,140,135 (GRCm39) |
missense |
probably benign |
|
R9787:Pan2
|
UTSW |
10 |
128,144,223 (GRCm39) |
missense |
probably benign |
0.05 |
RF005:Pan2
|
UTSW |
10 |
128,151,404 (GRCm39) |
missense |
probably benign |
0.00 |
RF024:Pan2
|
UTSW |
10 |
128,151,404 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Pan2
|
UTSW |
10 |
128,150,368 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Pan2
|
UTSW |
10 |
128,140,279 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCAGGAGACTCAGAAGG -3'
(R):5'- AGCTGTAGAAAACACCAGGATC -3'
Sequencing Primer
(F):5'- CTCAGAAGGTATGCACTTAGGTC -3'
(R):5'- GGATCCAAGATGATCTCAACACAG -3'
|
Posted On |
2015-09-24 |