Incidental Mutation 'RF005:Pan2'
| ID |
602768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pan2
|
| Ensembl Gene |
ENSMUSG00000005682 |
| Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
| Synonyms |
Usp52, 1200014O24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF005 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128151404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 842
(E842K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000218315]
[ENSMUST00000219721]
|
| AlphaFold |
Q8BGF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005825
AA Change: E842K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: E842K
| 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 |
probably benign
Transcript: ENSMUST00000218315
AA Change: E833K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219721
AA Change: E815K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
94% (65/69) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AGAAAGGAAAAGGTGGCCAG |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,847 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
CTGCTG |
CTGCTGTGGATGCTG |
1: 82,891,306 (GRCm39) |
|
probably benign |
Het |
| Abca1 |
G |
T |
4: 53,049,125 (GRCm39) |
T1651N |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,261,603 (GRCm39) |
T40A |
|
Het |
| Adgra3 |
A |
T |
5: 50,170,729 (GRCm39) |
|
probably null |
Het |
| Apcs |
A |
T |
1: 172,721,809 (GRCm39) |
M179K |
probably damaging |
Het |
| Baiap2 |
G |
A |
11: 119,887,355 (GRCm39) |
E217K |
possibly damaging |
Het |
| Bltp3a |
A |
T |
17: 28,104,505 (GRCm39) |
D517V |
probably damaging |
Het |
| Ccdc69 |
A |
G |
11: 54,951,349 (GRCm39) |
L24P |
probably damaging |
Het |
| Cdh16 |
T |
G |
8: 105,343,684 (GRCm39) |
N604T |
probably damaging |
Het |
| Cfb |
C |
T |
17: 35,077,022 (GRCm39) |
V538I |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,738,984 (GRCm39) |
S1022P |
probably benign |
Het |
| Cpeb1 |
A |
G |
7: 81,011,554 (GRCm39) |
L129S |
possibly damaging |
Het |
| Crybg1 |
A |
G |
10: 43,880,741 (GRCm39) |
V149A |
probably benign |
Het |
| Cyp4f16 |
C |
A |
17: 32,764,169 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
G |
A |
14: 24,208,561 (GRCm39) |
Q882* |
probably null |
Het |
| Fsip2 |
T |
A |
2: 82,822,876 (GRCm39) |
I6203K |
probably benign |
Het |
| Gabre |
CCGGCT |
CCGGCTACGGCT |
X: 71,313,651 (GRCm39) |
|
probably null |
Het |
| Gprc5d |
A |
T |
6: 135,093,517 (GRCm39) |
L130Q |
probably damaging |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,510,897 (GRCm39) |
K3609* |
probably null |
Het |
| Hsdl2 |
GCTGCAG |
GCTGCAGCAGCAGCCACATCTGCAG |
4: 59,610,652 (GRCm39) |
|
probably benign |
Het |
| Kl |
A |
C |
5: 150,876,885 (GRCm39) |
Y235S |
probably benign |
Het |
| Map6d1 |
G |
A |
16: 20,059,750 (GRCm39) |
T105I |
probably benign |
Het |
| Mast4 |
GGTGGTGGTGG |
GGTGGTGGTGGTGGTGG |
13: 102,872,815 (GRCm39) |
|
probably benign |
Het |
| Mbd1 |
TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC |
TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC |
18: 74,406,644 (GRCm39) |
|
probably benign |
Het |
| Mms22l |
A |
G |
4: 24,517,207 (GRCm39) |
I363V |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,742,824 (GRCm39) |
I391V |
probably benign |
Het |
| Nab2 |
A |
T |
10: 127,500,233 (GRCm39) |
D286E |
probably benign |
Het |
| Nrxn1 |
G |
A |
17: 90,670,304 (GRCm39) |
R1144C |
probably damaging |
Het |
| Or51q1 |
A |
G |
7: 103,628,768 (GRCm39) |
D123G |
probably damaging |
Het |
| Or52j3 |
T |
C |
7: 102,835,898 (GRCm39) |
I30T |
possibly damaging |
Het |
| Or5al5 |
T |
C |
2: 85,961,414 (GRCm39) |
M198V |
probably benign |
Het |
| Pate11 |
T |
C |
9: 36,386,970 (GRCm39) |
S13P |
possibly damaging |
Het |
| Polr1has |
CACCACCACCACCACCACCAC |
CACCACCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 37,275,940 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
A |
C |
1: 11,255,390 (GRCm39) |
D1145A |
possibly damaging |
Het |
| Prop1 |
A |
C |
11: 50,841,957 (GRCm39) |
Y150D |
possibly damaging |
Het |
| Prp2 |
AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
6: 132,577,464 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,735 (GRCm39) |
I353M |
probably damaging |
Het |
| Rapgef1 |
C |
A |
2: 29,597,207 (GRCm39) |
|
probably null |
Het |
| Rgl1 |
G |
A |
1: 152,397,114 (GRCm39) |
S684L |
probably benign |
Het |
| Sbf2 |
T |
A |
7: 109,916,215 (GRCm39) |
D1552V |
probably damaging |
Het |
| Scpppq1 |
A |
C |
5: 104,222,725 (GRCm39) |
|
probably null |
Het |
| Serpinh1 |
C |
T |
7: 98,995,410 (GRCm39) |
V391M |
probably damaging |
Het |
| Slc35e4 |
A |
T |
11: 3,857,960 (GRCm39) |
L215Q |
possibly damaging |
Het |
| Tbl3 |
TCTT |
TCTTCTT |
17: 24,921,515 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,066,705 (GRCm39) |
M2045K |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,750,689 (GRCm39) |
*1070W |
probably null |
Het |
| Trav15-2-dv6-2 |
GAA |
GAACAA |
14: 53,887,211 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GGGAG |
GGGAGGAG |
14: 53,887,207 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GGAG |
GGAGGAG |
14: 53,887,208 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
GCCCCGGCCCCCG |
GCCCCG |
3: 103,187,528 (GRCm39) |
|
probably null |
Het |
| Triobp |
GACAA |
GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA |
15: 78,851,261 (GRCm39) |
|
probably benign |
Het |
| Tub |
C |
A |
7: 108,621,846 (GRCm39) |
Q95K |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,435,046 (GRCm39) |
Q261L |
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,661,319 (GRCm39) |
D29E |
probably damaging |
Het |
| Vill |
G |
A |
9: 118,889,507 (GRCm39) |
V148M |
probably damaging |
Het |
| Vmn2r120 |
C |
T |
17: 57,828,991 (GRCm39) |
E535K |
possibly damaging |
Het |
| Zfp451 |
A |
T |
1: 33,815,873 (GRCm39) |
Y692* |
probably null |
Het |
| Zfp599 |
A |
C |
9: 22,165,180 (GRCm39) |
V65G |
probably benign |
Het |
| Zfp808 |
T |
C |
13: 62,319,113 (GRCm39) |
V114A |
probably benign |
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 |
|
R4571:Pan2
|
UTSW |
10 |
128,144,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
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'- AAAACGTACGCTTACCAGTTCTG -3'
(R):5'- AGTGAGAGCTATCTGTCTCCTGG -3'
Sequencing Primer
(F):5'- ACGCTTACCAGTTCTGGGGTTG -3'
(R):5'- AGGAGCTCGGGGACAGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation