Incidental Mutation 'R6766:Pan2'
| ID |
531939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pan2
|
| Ensembl Gene |
ENSMUSG00000005682 |
| Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
| Synonyms |
Usp52, 1200014O24Rik |
| MMRRC Submission |
044882-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 128150381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 708
(N708K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000218315]
[ENSMUST00000219721]
|
| AlphaFold |
Q8BGF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005825
AA Change: N708K
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: N708K
| 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 |
possibly damaging
Transcript: ENSMUST00000218315
AA Change: N708K
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219721
AA Change: N690K
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
G |
A |
8: 25,362,646 (GRCm39) |
S17L |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Ankrd34c |
A |
G |
9: 89,611,381 (GRCm39) |
V320A |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,388,227 (GRCm39) |
L1112I |
possibly damaging |
Het |
| Arap2 |
A |
C |
5: 62,834,443 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
T |
9: 53,401,582 (GRCm39) |
I1429N |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,099,861 (GRCm39) |
N290D |
probably damaging |
Het |
| Chst1 |
T |
C |
2: 92,443,542 (GRCm39) |
W5R |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,752,827 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
T |
C |
16: 3,935,364 (GRCm39) |
T842A |
probably damaging |
Het |
| Cyp2b13 |
T |
C |
7: 25,781,236 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,358,522 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,333,564 (GRCm39) |
I4800V |
probably damaging |
Het |
| Efcab7 |
CAAGTAAAGTAA |
CAAGTAA |
4: 99,735,161 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
C |
T |
10: 25,348,990 (GRCm39) |
Q382* |
probably null |
Het |
| Fam83e |
A |
G |
7: 45,376,070 (GRCm39) |
D261G |
probably damaging |
Het |
| Ifnk |
T |
G |
4: 35,152,134 (GRCm39) |
S21A |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,903,204 (GRCm39) |
H1157R |
probably benign |
Het |
| Ighv1-67 |
T |
C |
12: 115,567,654 (GRCm39) |
K67R |
possibly damaging |
Het |
| Inpp4a |
C |
A |
1: 37,411,422 (GRCm39) |
A97D |
probably damaging |
Het |
| Insm1 |
T |
A |
2: 146,065,346 (GRCm39) |
Y387* |
probably null |
Het |
| Irgm1 |
T |
C |
11: 48,756,928 (GRCm39) |
I294M |
possibly damaging |
Het |
| Isoc2b |
C |
T |
7: 4,854,061 (GRCm39) |
V104M |
probably damaging |
Het |
| Kif2c |
A |
C |
4: 117,024,280 (GRCm39) |
S311R |
probably benign |
Het |
| Morn3 |
G |
A |
5: 123,179,270 (GRCm39) |
A60V |
probably damaging |
Het |
| Oit3 |
T |
C |
10: 59,274,534 (GRCm39) |
N89D |
probably damaging |
Het |
| Or14c40 |
A |
T |
7: 86,313,293 (GRCm39) |
N141I |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4c127 |
T |
C |
2: 89,832,876 (GRCm39) |
V42A |
probably benign |
Het |
| Or5d44 |
T |
A |
2: 88,142,095 (GRCm39) |
Q15L |
noncoding transcript |
Het |
| Or8b48 |
A |
C |
9: 38,493,069 (GRCm39) |
R165S |
probably damaging |
Het |
| Parp1 |
T |
A |
1: 180,425,927 (GRCm39) |
V886E |
probably damaging |
Het |
| Pcdha8 |
C |
A |
18: 37,127,753 (GRCm39) |
A745E |
probably benign |
Het |
| Pcyox1 |
C |
T |
6: 86,371,390 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
A |
T |
13: 13,176,713 (GRCm39) |
|
probably null |
Het |
| Samd1 |
T |
C |
8: 84,726,361 (GRCm39) |
S473P |
possibly damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,773 (GRCm39) |
D475E |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,493,535 (GRCm39) |
V239A |
possibly damaging |
Het |
| Smo |
T |
A |
6: 29,736,044 (GRCm39) |
L12Q |
unknown |
Homo |
| Srpk1 |
C |
T |
17: 28,821,727 (GRCm39) |
R229Q |
possibly damaging |
Het |
| Syn2 |
T |
A |
6: 115,216,362 (GRCm39) |
F191L |
probably damaging |
Het |
| Syngr2 |
T |
C |
11: 117,704,261 (GRCm39) |
V182A |
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 127,174,139 (GRCm39) |
A889V |
probably benign |
Het |
| Tbc1d2b |
T |
C |
9: 90,108,262 (GRCm39) |
T430A |
probably benign |
Het |
| Tmem217 |
T |
A |
17: 29,745,484 (GRCm39) |
Y82F |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,841,220 (GRCm39) |
Y272* |
probably null |
Het |
| Uts2r |
A |
G |
11: 121,052,033 (GRCm39) |
Y299C |
probably damaging |
Het |
| Vsig8 |
T |
A |
1: 172,388,143 (GRCm39) |
M37K |
probably benign |
Het |
| Vwf |
G |
T |
6: 125,616,339 (GRCm39) |
D1218Y |
unknown |
Het |
| Wdr11 |
T |
G |
7: 129,226,036 (GRCm39) |
M727R |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Yod1 |
T |
A |
1: 130,647,008 (GRCm39) |
L295* |
probably null |
Het |
| Zfp113 |
G |
T |
5: 138,143,608 (GRCm39) |
S214* |
probably null |
Het |
| Zfp438 |
T |
A |
18: 5,213,780 (GRCm39) |
M393L |
probably benign |
Het |
| Zfp946 |
G |
A |
17: 22,674,752 (GRCm39) |
C502Y |
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 |
|
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'- TGTGGTATACCCTGCACCTG -3'
(R):5'- CTGGTCTGAATCTGAGAGAAGG -3'
Sequencing Primer
(F):5'- CTGCACCTGGGTTGGGAG -3'
(R):5'- TGGCATTGTCTACAGAAAAAGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation