Incidental Mutation 'R1977:Pan2'
| ID |
221890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pan2
|
| Ensembl Gene |
ENSMUSG00000005682 |
| Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
| Synonyms |
Usp52, 1200014O24Rik |
| MMRRC Submission |
039990-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1977 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128156282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1171
(V1171A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000026446]
[ENSMUST00000218315]
[ENSMUST00000219037]
[ENSMUST00000219721]
[ENSMUST00000219836]
|
| AlphaFold |
Q8BGF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005825
AA Change: V1180A
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: V1180A
| 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: ENSMUST00000026446
|
| SMART Domains |
Protein: ENSMUSP00000026446
Gene: ENSMUSG00000025381
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:DUF3456
|
27 |
171 |
1e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218315
AA Change: V1171A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219255
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219721
AA Change: V1153A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220391
|
| Meta Mutation Damage Score |
0.2574 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
99% (66/67) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
G |
T |
8: 123,508,272 (GRCm39) |
C256F |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,605,789 (GRCm39) |
V647D |
possibly damaging |
Het |
| AI593442 |
A |
T |
9: 52,589,492 (GRCm39) |
S28R |
probably damaging |
Het |
| Akr1c21 |
G |
C |
13: 4,624,211 (GRCm39) |
G22R |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,402,369 (GRCm39) |
W458R |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,342,273 (GRCm39) |
R185L |
possibly damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,856,652 (GRCm39) |
I67F |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,554 (GRCm39) |
|
probably null |
Het |
| Atl2 |
A |
G |
17: 80,160,019 (GRCm39) |
Y56H |
probably damaging |
Het |
| Carf |
A |
T |
1: 60,185,295 (GRCm39) |
I447F |
probably damaging |
Het |
| Crmp1 |
A |
G |
5: 37,433,627 (GRCm39) |
N162S |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,535,347 (GRCm39) |
E103G |
probably benign |
Het |
| Cyp2c40 |
T |
C |
19: 39,766,485 (GRCm39) |
D370G |
probably damaging |
Het |
| Dhrs2 |
T |
A |
14: 55,472,112 (GRCm39) |
M1K |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,003,417 (GRCm39) |
E810G |
possibly damaging |
Het |
| E2f5 |
T |
A |
3: 14,652,416 (GRCm39) |
I84N |
probably damaging |
Het |
| Eif2ak4 |
A |
T |
2: 118,292,238 (GRCm39) |
K1185* |
probably null |
Het |
| Eif4ebp1 |
T |
A |
8: 27,765,129 (GRCm39) |
M115K |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,947,005 (GRCm39) |
L505* |
probably null |
Het |
| Fbxw25 |
T |
A |
9: 109,481,924 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Gm7964 |
T |
A |
7: 83,406,560 (GRCm39) |
F439Y |
possibly damaging |
Het |
| Gps1 |
A |
G |
11: 120,676,652 (GRCm39) |
T124A |
probably damaging |
Het |
| Hopx |
T |
C |
5: 77,265,463 (GRCm39) |
|
probably benign |
Het |
| Hoxd3 |
A |
G |
2: 74,574,620 (GRCm39) |
S89G |
possibly damaging |
Het |
| Hrc |
A |
T |
7: 44,985,638 (GRCm39) |
D263V |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 119,375,888 (GRCm39) |
I21T |
probably benign |
Het |
| Izumo4 |
A |
G |
10: 80,538,955 (GRCm39) |
Y106C |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,866,796 (GRCm39) |
|
probably null |
Het |
| Lcorl |
A |
C |
5: 45,932,762 (GRCm39) |
S123R |
probably null |
Het |
| Lgr4 |
A |
T |
2: 109,842,273 (GRCm39) |
I729F |
probably damaging |
Het |
| Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
| Matn3 |
T |
A |
12: 9,011,110 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,161,822 (GRCm39) |
S912T |
probably benign |
Het |
| Mgam |
G |
A |
6: 40,641,814 (GRCm39) |
V556I |
probably benign |
Het |
| Myom2 |
A |
T |
8: 15,135,263 (GRCm39) |
I489F |
possibly damaging |
Het |
| Nfatc2 |
G |
A |
2: 168,346,379 (GRCm39) |
T905I |
possibly damaging |
Het |
| Nme6 |
G |
A |
9: 109,664,409 (GRCm39) |
R6Q |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,133 (GRCm39) |
S323P |
probably damaging |
Het |
| Nr4a3 |
C |
A |
4: 48,056,539 (GRCm39) |
R364S |
probably damaging |
Het |
| Obox7 |
A |
T |
7: 14,398,323 (GRCm39) |
D79V |
probably damaging |
Het |
| Or1ab2 |
G |
A |
8: 72,863,698 (GRCm39) |
G96D |
probably benign |
Het |
| Or2a51 |
T |
A |
6: 43,178,914 (GRCm39) |
V112D |
possibly damaging |
Het |
| Or2l5 |
G |
A |
16: 19,333,586 (GRCm39) |
P267S |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,047,449 (GRCm39) |
I208F |
probably damaging |
Het |
| Pdgfc |
C |
T |
3: 81,116,552 (GRCm39) |
T302I |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,091,256 (GRCm39) |
I337V |
probably benign |
Het |
| Polk |
T |
C |
13: 96,625,736 (GRCm39) |
E436G |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,321,465 (GRCm39) |
V190A |
probably benign |
Het |
| Rplp2 |
T |
C |
7: 141,028,694 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
T |
A |
7: 128,367,997 (GRCm39) |
S670T |
probably damaging |
Het |
| Sgk2 |
A |
G |
2: 162,846,080 (GRCm39) |
N207S |
probably benign |
Het |
| Sh2d2a |
C |
T |
3: 87,759,123 (GRCm39) |
Q242* |
probably null |
Het |
| Sh3pxd2b |
A |
C |
11: 32,372,138 (GRCm39) |
N435T |
probably damaging |
Het |
| Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
| Stx17 |
G |
A |
4: 48,181,553 (GRCm39) |
V241M |
probably benign |
Het |
| Taok3 |
A |
T |
5: 117,403,989 (GRCm39) |
K721N |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 38,925,575 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
G |
A |
2: 120,204,985 (GRCm39) |
A377V |
probably benign |
Het |
| Topaz1 |
C |
T |
9: 122,576,427 (GRCm39) |
T6M |
unknown |
Het |
| Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
| Vmn2r125 |
A |
G |
4: 156,707,162 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,185,270 (GRCm39) |
C888S |
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 |
|
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 |
|
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'- TGTACCCCAGACCTGAAGATTC -3'
(R):5'- GGACATTTCCCTGAGCAAGC -3'
Sequencing Primer
(F):5'- TTCAAGGTGAGACCCATGAC -3'
(R):5'- CACTGACTATTGGAAACACTGAGTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation