Incidental Mutation 'R9038:Pan2'
ID |
687548 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pan2
|
Ensembl Gene |
ENSMUSG00000005682 |
Gene Name |
PAN2 poly(A) specific ribonuclease subunit |
Synonyms |
Usp52, 1200014O24Rik |
MMRRC Submission |
068866-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9038 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
128139204-128157227 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 128153810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 1003
(Q1003*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005825]
[ENSMUST00000026446]
[ENSMUST00000218315]
[ENSMUST00000219037]
[ENSMUST00000219721]
[ENSMUST00000219836]
|
AlphaFold |
Q8BGF7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005825
AA Change: Q1003*
|
SMART Domains |
Protein: ENSMUSP00000005825 Gene: ENSMUSG00000005682 AA Change: Q1003*
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 null
Transcript: ENSMUST00000218315
AA Change: Q994*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219037
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219721
AA Change: Q976*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219836
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.4%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
T |
12: 118,895,651 (GRCm39) |
C382S |
probably benign |
Het |
Abcf2 |
A |
G |
5: 24,776,191 (GRCm39) |
V296A |
possibly damaging |
Het |
Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
Acvrl1 |
A |
G |
15: 101,039,011 (GRCm39) |
D436G |
possibly damaging |
Het |
Adamts7 |
A |
G |
9: 90,056,692 (GRCm39) |
I254V |
|
Het |
Arhgef18 |
A |
G |
8: 3,503,257 (GRCm39) |
I888V |
probably benign |
Het |
Arhgef40 |
C |
A |
14: 52,235,072 (GRCm39) |
A1083D |
probably damaging |
Het |
Arnt2 |
C |
A |
7: 83,954,059 (GRCm39) |
A275S |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,731,900 (GRCm39) |
Y371N |
possibly damaging |
Het |
Brip1 |
C |
T |
11: 86,080,599 (GRCm39) |
V156I |
probably benign |
Het |
Camk4 |
C |
A |
18: 33,291,953 (GRCm39) |
C204* |
probably null |
Het |
Cenpe |
A |
G |
3: 134,923,797 (GRCm39) |
T161A |
probably benign |
Het |
Chd2 |
G |
A |
7: 73,105,358 (GRCm39) |
H1256Y |
probably damaging |
Het |
Chd9 |
G |
A |
8: 91,716,233 (GRCm39) |
V936I |
unknown |
Het |
D6Ertd527e |
A |
G |
6: 87,089,233 (GRCm39) |
*465W |
probably null |
Het |
Dcaf11 |
T |
A |
14: 55,803,114 (GRCm39) |
D309E |
probably damaging |
Het |
Dtna |
A |
G |
18: 23,743,553 (GRCm39) |
N373S |
probably benign |
Het |
Eif2b2 |
A |
G |
12: 85,266,897 (GRCm39) |
D104G |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,874,742 (GRCm39) |
T2302S |
probably benign |
Het |
Gga1 |
A |
G |
15: 78,768,321 (GRCm39) |
K114E |
probably damaging |
Het |
Gm12887 |
A |
G |
4: 121,473,616 (GRCm39) |
|
probably null |
Het |
Gss |
A |
T |
2: 155,406,794 (GRCm39) |
I396N |
|
Het |
H2-M5 |
T |
C |
17: 37,299,422 (GRCm39) |
I199M |
possibly damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Ift172 |
G |
T |
5: 31,441,399 (GRCm39) |
T245K |
possibly damaging |
Het |
Ift70a2 |
G |
A |
2: 75,808,215 (GRCm39) |
T99I |
probably benign |
Het |
Iqck |
A |
G |
7: 118,498,881 (GRCm39) |
D173G |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,675,039 (GRCm39) |
N857S |
possibly damaging |
Het |
Kdm1b |
C |
A |
13: 47,202,770 (GRCm39) |
S68R |
probably benign |
Het |
Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
Myo6 |
G |
T |
9: 80,162,285 (GRCm39) |
V341L |
unknown |
Het |
Nfkbie |
C |
A |
17: 45,870,183 (GRCm39) |
A176E |
probably damaging |
Het |
Nlrp2 |
C |
T |
7: 5,330,478 (GRCm39) |
M639I |
probably benign |
Het |
Or10g3 |
T |
A |
14: 52,609,716 (GRCm39) |
S265C |
probably damaging |
Het |
Or10j2 |
T |
A |
1: 173,098,147 (GRCm39) |
I135N |
possibly damaging |
Het |
Or56a41 |
T |
C |
7: 104,740,433 (GRCm39) |
I138V |
probably benign |
Het |
Or5w16 |
A |
G |
2: 87,577,125 (GRCm39) |
N195S |
probably damaging |
Het |
Or6c215 |
T |
C |
10: 129,637,564 (GRCm39) |
T277A |
probably damaging |
Het |
Or8k40 |
A |
T |
2: 86,584,354 (GRCm39) |
S243T |
probably damaging |
Het |
Pak4 |
G |
A |
7: 28,264,263 (GRCm39) |
T213M |
probably damaging |
Het |
Pde4c |
G |
C |
8: 71,179,550 (GRCm39) |
V34L |
probably benign |
Het |
Pi4k2a |
G |
A |
19: 42,089,235 (GRCm39) |
V199M |
probably damaging |
Het |
Platr25 |
T |
C |
13: 62,848,007 (GRCm39) |
E285G |
probably damaging |
Het |
Polr3e |
T |
C |
7: 120,536,906 (GRCm39) |
V356A |
possibly damaging |
Het |
Prcp |
A |
G |
7: 92,567,017 (GRCm39) |
D243G |
probably benign |
Het |
Qsox2 |
T |
C |
2: 26,115,246 (GRCm39) |
T161A |
probably damaging |
Het |
Rhoj |
A |
G |
12: 75,355,700 (GRCm39) |
T35A |
|
Het |
Scn9a |
T |
A |
2: 66,325,147 (GRCm39) |
M1336L |
probably damaging |
Het |
Sel1l2 |
G |
T |
2: 140,117,384 (GRCm39) |
N162K |
probably damaging |
Het |
Slc15a3 |
T |
C |
19: 10,820,866 (GRCm39) |
L161P |
probably damaging |
Het |
Slc4a11 |
G |
A |
2: 130,533,663 (GRCm39) |
A100V |
probably damaging |
Het |
Sp1 |
A |
G |
15: 102,316,320 (GRCm39) |
S41G |
probably benign |
Het |
Tbx15 |
A |
G |
3: 99,222,085 (GRCm39) |
M183V |
probably benign |
Het |
Tfip11 |
A |
G |
5: 112,481,214 (GRCm39) |
T397A |
possibly damaging |
Het |
Themis |
T |
C |
10: 28,657,749 (GRCm39) |
S259P |
probably damaging |
Het |
Tm7sf2 |
T |
C |
19: 6,117,172 (GRCm39) |
Y77C |
probably damaging |
Het |
Tnnt2 |
C |
A |
1: 135,774,484 (GRCm39) |
P81H |
possibly damaging |
Het |
Trpc7 |
T |
C |
13: 57,035,886 (GRCm39) |
T16A |
probably benign |
Het |
Ttn |
T |
A |
2: 76,745,056 (GRCm39) |
Y5331F |
possibly damaging |
Het |
Virma |
A |
G |
4: 11,526,922 (GRCm39) |
Q1057R |
possibly damaging |
Het |
Vmn2r118 |
A |
T |
17: 55,918,649 (GRCm39) |
F81Y |
probably damaging |
Het |
Vmn2r88 |
T |
C |
14: 51,651,490 (GRCm39) |
V268A |
|
Het |
Vmn2r93 |
T |
A |
17: 18,524,471 (GRCm39) |
M155K |
probably benign |
Het |
Vps13b |
G |
T |
15: 35,875,931 (GRCm39) |
C2772F |
possibly damaging |
Het |
Wdr90 |
T |
C |
17: 26,076,200 (GRCm39) |
N86D |
|
Het |
Zbtb34 |
T |
C |
2: 33,301,248 (GRCm39) |
D431G |
probably damaging |
Het |
Zc3h3 |
G |
A |
15: 75,711,237 (GRCm39) |
P408L |
probably benign |
Het |
Zfp345 |
A |
G |
2: 150,313,864 (GRCm39) |
Y558H |
probably benign |
Het |
Zfp583 |
G |
A |
7: 6,319,543 (GRCm39) |
P490S |
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 |
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'- GCTGAATGAGATGCCACAGG -3'
(R):5'- AGGTGTGGTCTCTTCCAGTCAC -3'
Sequencing Primer
(F):5'- TGAGATGCCACAGGTCGGG -3'
(R):5'- AGTCACTCTTCTTAGGGTTCTTAAG -3'
|
Posted On |
2021-11-19 |