Incidental Mutation 'R1650:Pan2'
| ID |
174193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pan2
|
| Ensembl Gene |
ENSMUSG00000005682 |
| Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
| Synonyms |
Usp52, 1200014O24Rik |
| MMRRC Submission |
039686-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1650 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128153768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 980
(E980K)
|
| 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: E989K
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: E989K
| 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: E980K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: E962K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220391
|
| Meta Mutation Damage Score |
0.5242 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 93.0%
- 20x: 83.4%
|
| Validation Efficiency |
99% (86/87) |
| 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 |
|---|
| Abtb2 |
T |
G |
2: 103,532,747 (GRCm39) |
V515G |
probably damaging |
Het |
| Ark2c |
A |
C |
18: 77,550,113 (GRCm39) |
|
probably null |
Het |
| Arl5a |
A |
T |
2: 52,302,117 (GRCm39) |
I99N |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,704,620 (GRCm39) |
|
probably benign |
Het |
| Bag4 |
T |
A |
8: 26,267,452 (GRCm39) |
Q126L |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,615,474 (GRCm39) |
T659A |
probably benign |
Het |
| Cenpn |
A |
G |
8: 117,661,498 (GRCm39) |
D199G |
probably damaging |
Het |
| Cfhr3 |
A |
G |
1: 139,521,564 (GRCm39) |
|
noncoding transcript |
Het |
| Clca3a2 |
T |
A |
3: 144,797,973 (GRCm39) |
H164L |
probably damaging |
Het |
| Col5a1 |
C |
A |
2: 27,812,171 (GRCm39) |
S84R |
unknown |
Het |
| Ctsc |
T |
A |
7: 87,930,634 (GRCm39) |
L71* |
probably null |
Het |
| Cyp2c70 |
A |
G |
19: 40,153,921 (GRCm39) |
Y223H |
probably benign |
Het |
| Dbt |
A |
G |
3: 116,328,381 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
T |
C |
7: 92,080,259 (GRCm39) |
V614A |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,611 (GRCm39) |
S398P |
probably damaging |
Het |
| Dyrk4 |
T |
C |
6: 126,876,792 (GRCm39) |
K62E |
probably benign |
Het |
| Fgf22 |
A |
T |
10: 79,591,023 (GRCm39) |
Y24F |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,440,595 (GRCm39) |
R239G |
probably benign |
Het |
| Gm11360 |
C |
T |
13: 28,140,379 (GRCm39) |
A81V |
unknown |
Het |
| Htr5b |
T |
A |
1: 121,455,891 (GRCm39) |
T10S |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,233,583 (GRCm39) |
R1717G |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,687,767 (GRCm39) |
V556D |
probably damaging |
Het |
| Kdm3b |
T |
C |
18: 34,942,168 (GRCm39) |
V553A |
possibly damaging |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lca5l |
T |
C |
16: 95,980,140 (GRCm39) |
|
probably null |
Het |
| Lmbrd1 |
T |
C |
1: 24,750,639 (GRCm39) |
W171R |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,445,732 (GRCm39) |
Y1027C |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,350,393 (GRCm39) |
Y1702* |
probably null |
Het |
| Mon2 |
T |
C |
10: 122,831,682 (GRCm39) |
I1675V |
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,692,871 (GRCm39) |
K486M |
probably damaging |
Het |
| Nek1 |
A |
T |
8: 61,489,110 (GRCm39) |
H338L |
probably benign |
Het |
| Ola1 |
A |
T |
2: 72,987,238 (GRCm39) |
D131E |
possibly damaging |
Het |
| Olr1 |
T |
A |
6: 129,484,052 (GRCm39) |
M7L |
probably benign |
Het |
| Or1f12 |
T |
C |
13: 21,721,249 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4k36 |
C |
T |
2: 111,146,640 (GRCm39) |
A272V |
probably benign |
Het |
| Or5t18 |
A |
T |
2: 86,637,091 (GRCm39) |
M84K |
possibly damaging |
Het |
| Or5w10 |
C |
A |
2: 87,375,772 (GRCm39) |
V39L |
probably benign |
Het |
| Or7g27 |
T |
G |
9: 19,249,943 (GRCm39) |
F62L |
possibly damaging |
Het |
| Or9m2 |
C |
T |
2: 87,821,145 (GRCm39) |
A230V |
probably benign |
Het |
| Pgm1 |
C |
A |
4: 99,819,276 (GRCm39) |
Q149K |
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,819,267 (GRCm39) |
K146E |
possibly damaging |
Het |
| Phlpp2 |
T |
C |
8: 110,660,587 (GRCm39) |
|
probably benign |
Het |
| Plekhs1 |
G |
T |
19: 56,459,474 (GRCm39) |
G75C |
probably damaging |
Het |
| Plin4 |
G |
A |
17: 56,411,931 (GRCm39) |
T700I |
probably damaging |
Het |
| Podxl2 |
G |
A |
6: 88,826,901 (GRCm39) |
P71L |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,745,964 (GRCm39) |
V579D |
probably damaging |
Het |
| Poteg |
A |
G |
8: 27,953,813 (GRCm39) |
D318G |
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,010,878 (GRCm39) |
D554E |
probably damaging |
Het |
| Proser3 |
G |
A |
7: 30,239,751 (GRCm39) |
A451V |
probably damaging |
Het |
| Shld2 |
T |
A |
14: 33,981,574 (GRCm39) |
|
probably benign |
Het |
| Strc |
T |
C |
2: 121,211,366 (GRCm39) |
|
probably benign |
Het |
| Syce1 |
C |
A |
7: 140,358,300 (GRCm39) |
C216F |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 75,951,033 (GRCm39) |
K395* |
probably null |
Het |
| Trim28 |
G |
A |
7: 12,764,776 (GRCm39) |
G831D |
possibly damaging |
Het |
| Tyw1 |
A |
G |
5: 130,317,752 (GRCm39) |
I434V |
possibly damaging |
Het |
| Ubox5 |
G |
A |
2: 130,442,345 (GRCm39) |
A114V |
probably benign |
Het |
| Ubqln3 |
C |
T |
7: 103,790,228 (GRCm39) |
V621I |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,079,052 (GRCm39) |
D1543G |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Wrnip1 |
C |
A |
13: 32,989,362 (GRCm39) |
H283Q |
probably benign |
Het |
| Zan |
A |
T |
5: 137,392,863 (GRCm39) |
|
probably benign |
Het |
| Zcchc10 |
A |
T |
11: 53,218,229 (GRCm39) |
K1* |
probably null |
Het |
| Zfp592 |
T |
A |
7: 80,687,848 (GRCm39) |
S925T |
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 |
|
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 |
|
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'- TGATGCTGAATGAGATGCCACAGG -3'
(R):5'- ACCATGAGGTTGATGACCCGGAAG -3'
Sequencing Primer
(F):5'- AGATGCCACAGGTCGGG -3'
(R):5'- TTATCCCCGAGTACTGAGTCAAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation