Incidental Mutation 'R2512:Pan2'
| ID |
253474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pan2
|
| Ensembl Gene |
ENSMUSG00000005682 |
| Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
| Synonyms |
Usp52, 1200014O24Rik |
| MMRRC Submission |
040418-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2512 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128140326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 82
(D82E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000218315]
[ENSMUST00000219721]
|
| AlphaFold |
Q8BGF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005825
AA Change: D82E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: D82E
| 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 |
noncoding transcript
Transcript: ENSMUST00000083014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218137
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218315
AA Change: D82E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219255
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219721
AA Change: D82E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219801
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,219,945 (GRCm39) |
T831A |
possibly damaging |
Het |
| Actg2 |
T |
A |
6: 83,503,829 (GRCm39) |
I72F |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,774,030 (GRCm39) |
T80A |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,483,591 (GRCm39) |
T139M |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,078,973 (GRCm39) |
R325H |
probably damaging |
Het |
| Aptx |
G |
A |
4: 40,694,917 (GRCm39) |
P140S |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,486,708 (GRCm39) |
|
probably null |
Het |
| Carmil2 |
A |
T |
8: 106,424,025 (GRCm39) |
I1293F |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 100,127,495 (GRCm39) |
T39A |
probably benign |
Het |
| Cimip3 |
T |
C |
17: 47,724,651 (GRCm39) |
T60A |
probably benign |
Het |
| Col15a1 |
T |
A |
4: 47,245,868 (GRCm39) |
N206K |
possibly damaging |
Het |
| Copg2 |
C |
T |
6: 30,873,591 (GRCm39) |
|
probably null |
Het |
| Ctr9 |
T |
G |
7: 110,646,078 (GRCm39) |
I690S |
probably damaging |
Het |
| Dcaf8 |
T |
G |
1: 172,016,602 (GRCm39) |
I463S |
possibly damaging |
Het |
| Dcp1b |
G |
T |
6: 119,183,473 (GRCm39) |
A187S |
possibly damaging |
Het |
| Ddo |
T |
A |
10: 40,508,935 (GRCm39) |
D58E |
possibly damaging |
Het |
| Dkkl1 |
G |
T |
7: 44,857,157 (GRCm39) |
R137S |
probably damaging |
Het |
| Dxo |
A |
G |
17: 35,056,718 (GRCm39) |
N115S |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,856,781 (GRCm39) |
|
probably benign |
Het |
| F11 |
A |
G |
8: 45,714,098 (GRCm39) |
V7A |
probably benign |
Het |
| Fermt1 |
G |
T |
2: 132,781,438 (GRCm39) |
|
probably null |
Het |
| Fign |
A |
T |
2: 63,810,143 (GRCm39) |
F376I |
probably benign |
Het |
| Flg2 |
G |
T |
3: 93,109,082 (GRCm39) |
G370V |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,793,715 (GRCm39) |
D953E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,511 (GRCm39) |
H1610L |
probably benign |
Het |
| Gfra3 |
T |
C |
18: 34,837,564 (GRCm39) |
N145D |
probably benign |
Het |
| Inpp4b |
G |
T |
8: 82,737,179 (GRCm39) |
W525C |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lgi2 |
A |
G |
5: 52,695,307 (GRCm39) |
*543R |
probably null |
Het |
| Lyn |
A |
G |
4: 3,745,542 (GRCm39) |
T114A |
probably benign |
Het |
| Lynx1 |
A |
G |
15: 74,623,169 (GRCm39) |
Y88H |
probably damaging |
Het |
| Map4 |
C |
A |
9: 109,863,770 (GRCm39) |
P332T |
possibly damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,133,677 (GRCm39) |
C250* |
probably null |
Het |
| Metap1d |
A |
G |
2: 71,352,954 (GRCm39) |
H261R |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,013,835 (GRCm39) |
V115A |
probably benign |
Het |
| Mtbp |
A |
G |
15: 55,440,932 (GRCm39) |
Y373C |
probably damaging |
Het |
| Mtor |
C |
A |
4: 148,614,948 (GRCm39) |
R1628S |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,813 (GRCm39) |
N1920D |
unknown |
Het |
| Myo1d |
T |
A |
11: 80,670,543 (GRCm39) |
M26L |
probably benign |
Het |
| Neb |
A |
C |
2: 52,100,843 (GRCm39) |
D643E |
probably damaging |
Het |
| Nme1 |
A |
G |
11: 93,851,513 (GRCm39) |
F108L |
possibly damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,207 (GRCm39) |
S249P |
probably damaging |
Het |
| Or8c15 |
G |
T |
9: 38,120,670 (GRCm39) |
C54F |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,762,612 (GRCm39) |
D3695G |
unknown |
Het |
| Pcnx4 |
A |
T |
12: 72,603,573 (GRCm39) |
|
probably null |
Het |
| Plg |
A |
G |
17: 12,622,116 (GRCm39) |
T479A |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Pramel32 |
T |
G |
4: 88,547,195 (GRCm39) |
M246L |
probably damaging |
Het |
| Ptgis |
T |
C |
2: 167,049,196 (GRCm39) |
D372G |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 8,997,949 (GRCm39) |
T14A |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,195,508 (GRCm39) |
V230D |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,184,688 (GRCm39) |
D1609G |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,802,967 (GRCm39) |
L696F |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,440,529 (GRCm39) |
D858E |
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,329,037 (GRCm39) |
V993I |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,487,616 (GRCm39) |
I901F |
unknown |
Het |
| Slc17a3 |
A |
T |
13: 24,030,230 (GRCm39) |
I114F |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,288 (GRCm39) |
L71Q |
probably damaging |
Het |
| Slc43a2 |
T |
C |
11: 75,461,403 (GRCm39) |
S452P |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,546,994 (GRCm39) |
N173S |
possibly damaging |
Het |
| Tbc1d21 |
T |
C |
9: 58,270,195 (GRCm39) |
Y161C |
probably damaging |
Het |
| Tpsab1 |
C |
A |
17: 25,564,081 (GRCm39) |
C94F |
probably damaging |
Het |
| Ubr5 |
G |
A |
15: 38,002,563 (GRCm39) |
P1496L |
probably damaging |
Het |
| Unc80 |
G |
T |
1: 66,710,767 (GRCm39) |
A2679S |
possibly damaging |
Het |
| Vdac1 |
T |
A |
11: 52,274,904 (GRCm39) |
V184E |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,985 (GRCm39) |
S287R |
probably benign |
Het |
| Vmn2r91 |
T |
C |
17: 18,356,048 (GRCm39) |
F572L |
probably benign |
Het |
| Vps13b |
G |
A |
15: 35,884,701 (GRCm39) |
E3125K |
probably benign |
Het |
| Ythdf3 |
A |
G |
3: 16,259,059 (GRCm39) |
N406S |
possibly damaging |
Het |
| Zfp708 |
T |
C |
13: 67,219,251 (GRCm39) |
K158E |
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 |
|
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'- ACTGGCCGAATTTTCCCCAG -3'
(R):5'- CACTCCCTTGTTGGTTTGAAAGAC -3'
Sequencing Primer
(F):5'- AGCTATGCATTCTACCCTGGAC -3'
(R):5'- GTTGGTTTGAAAGACCCAGCTAACTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation