Incidental Mutation 'R9787:Pan2'
| ID |
734410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pan2
|
| Ensembl Gene |
ENSMUSG00000005682 |
| Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
| Synonyms |
Usp52, 1200014O24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128144223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 157
(D157E)
|
| 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: D157E
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: D157E
| 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: D157E
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219721
AA Change: D139E
PolyPhen 2
Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 97.9%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
C |
7: 43,150,695 (GRCm39) |
T26A |
probably benign |
Het |
| Arhgap27 |
A |
G |
11: 103,230,048 (GRCm39) |
S239P |
possibly damaging |
Het |
| Bambi |
T |
C |
18: 3,511,515 (GRCm39) |
V112A |
possibly damaging |
Het |
| BC034090 |
T |
A |
1: 155,117,955 (GRCm39) |
E54D |
possibly damaging |
Het |
| Cdin1 |
T |
A |
2: 115,505,236 (GRCm39) |
L169Q |
probably damaging |
Het |
| Chst13 |
C |
T |
6: 90,286,074 (GRCm39) |
R296H |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Ctbs |
T |
A |
3: 146,160,109 (GRCm39) |
V46E |
probably damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,259 (GRCm39) |
I356V |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,600,472 (GRCm39) |
T40A |
probably benign |
Het |
| Dst |
C |
T |
1: 34,219,524 (GRCm39) |
T1988M |
probably benign |
Het |
| Fam184a |
T |
A |
10: 53,626,864 (GRCm39) |
D38V |
possibly damaging |
Het |
| Fank1 |
T |
A |
7: 133,463,887 (GRCm39) |
F83I |
probably damaging |
Het |
| Fto |
T |
A |
8: 92,211,886 (GRCm39) |
W404R |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,791,004 (GRCm39) |
R279S |
possibly damaging |
Het |
| Garem2 |
C |
T |
5: 30,319,219 (GRCm39) |
P227L |
probably damaging |
Het |
| Gfra4 |
C |
A |
2: 130,884,600 (GRCm39) |
M1I |
probably null |
Het |
| Gin1 |
T |
A |
1: 97,703,211 (GRCm39) |
H11Q |
probably damaging |
Het |
| Gli3 |
G |
A |
13: 15,900,386 (GRCm39) |
G1258R |
probably damaging |
Het |
| Gsx1 |
T |
C |
5: 147,126,677 (GRCm39) |
S167P |
probably damaging |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Il7 |
G |
A |
3: 7,641,171 (GRCm39) |
R82C |
probably damaging |
Het |
| Lair1 |
A |
T |
7: 4,013,794 (GRCm39) |
V151E |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,437,349 (GRCm39) |
D360G |
probably benign |
Het |
| Malrd1 |
T |
A |
2: 15,625,401 (GRCm39) |
N345K |
unknown |
Het |
| Mbnl1 |
T |
A |
3: 60,503,086 (GRCm39) |
N82K |
probably damaging |
Het |
| Mtdh |
C |
A |
15: 34,123,844 (GRCm39) |
T357N |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,227,748 (GRCm39) |
K1306* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,461,518 (GRCm39) |
C2685S |
probably benign |
Het |
| Optn |
T |
A |
2: 5,036,150 (GRCm39) |
Q444L |
probably damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,899 (GRCm39) |
L56H |
probably damaging |
Het |
| Pole |
G |
A |
5: 110,465,866 (GRCm39) |
|
probably null |
Het |
| Stau2 |
A |
T |
1: 16,530,595 (GRCm39) |
I108N |
unknown |
Het |
| Sugp2 |
A |
G |
8: 70,695,428 (GRCm39) |
K134E |
probably benign |
Het |
| Tcaf3 |
C |
T |
6: 42,574,024 (GRCm39) |
V63I |
probably benign |
Het |
| Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tubb2b |
T |
C |
13: 34,312,409 (GRCm39) |
D128G |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,178,324 (GRCm39) |
Q100L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,112,620 (GRCm39) |
N2230K |
probably benign |
Het |
| Zc3hav1l |
T |
C |
6: 38,272,101 (GRCm39) |
T223A |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,455,506 (GRCm39) |
D1167N |
possibly damaging |
Het |
| Zfp36 |
A |
T |
7: 28,077,344 (GRCm39) |
L200Q |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,994,205 (GRCm39) |
L650F |
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 |
|
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 |
|
|
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'- AACCTCAAGTACATGGCCCG -3'
(R):5'- ATGAGATGATTTCCCATGACCAAG -3'
Sequencing Primer
(F):5'- TCAAGTACATGGCCCGTGGAG -3'
(R):5'- GGGAAGTCATATCCACATCTCG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation