Incidental Mutation 'R3801:Tnpo2'
ID |
272985 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnpo2
|
Ensembl Gene |
ENSMUSG00000031691 |
Gene Name |
transportin 2 (importin 3, karyopherin beta 2b) |
Synonyms |
Kpnb2b, 1110034O24Rik, TRN2 |
MMRRC Submission |
040760-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3801 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
85763544-85784212 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 85781800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147583
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000095220]
[ENSMUST00000166592]
[ENSMUST00000166592]
[ENSMUST00000211601]
[ENSMUST00000211601]
|
AlphaFold |
Q99LG2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000093360
|
SMART Domains |
Protein: ENSMUSP00000091051 Gene: ENSMUSG00000031691
Domain | Start | End | E-Value | Type |
IBN_N
|
31 |
99 |
5.72e-6 |
SMART |
low complexity region
|
348 |
369 |
N/A |
INTRINSIC |
low complexity region
|
389 |
407 |
N/A |
INTRINSIC |
Pfam:HEAT_EZ
|
408 |
462 |
1.2e-13 |
PFAM |
Pfam:HEAT
|
436 |
466 |
2.8e-6 |
PFAM |
Pfam:HEAT
|
665 |
695 |
6.4e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095220
|
SMART Domains |
Protein: ENSMUSP00000092845 Gene: ENSMUSG00000008167
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
FBOX
|
82 |
123 |
7.47e-4 |
SMART |
WD40
|
161 |
201 |
2.98e-1 |
SMART |
WD40
|
210 |
252 |
4.55e-3 |
SMART |
WD40
|
256 |
292 |
7.8e-2 |
SMART |
WD40
|
296 |
333 |
1.03e0 |
SMART |
WD40
|
377 |
415 |
2.57e0 |
SMART |
Blast:WD40
|
419 |
455 |
8e-17 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104339
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125244
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139721
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145479
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156084
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166592
|
SMART Domains |
Protein: ENSMUSP00000133076 Gene: ENSMUSG00000031691
Domain | Start | End | E-Value | Type |
IBN_N
|
31 |
99 |
5.72e-6 |
SMART |
low complexity region
|
348 |
369 |
N/A |
INTRINSIC |
low complexity region
|
389 |
407 |
N/A |
INTRINSIC |
Pfam:HEAT_EZ
|
408 |
462 |
2.7e-15 |
PFAM |
Pfam:HEAT
|
436 |
466 |
2.7e-6 |
PFAM |
Pfam:HEAT
|
665 |
695 |
2.1e-5 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166592
|
SMART Domains |
Protein: ENSMUSP00000133076 Gene: ENSMUSG00000031691
Domain | Start | End | E-Value | Type |
IBN_N
|
31 |
99 |
5.72e-6 |
SMART |
low complexity region
|
348 |
369 |
N/A |
INTRINSIC |
low complexity region
|
389 |
407 |
N/A |
INTRINSIC |
Pfam:HEAT_EZ
|
408 |
462 |
2.7e-15 |
PFAM |
Pfam:HEAT
|
436 |
466 |
2.7e-6 |
PFAM |
Pfam:HEAT
|
665 |
695 |
2.1e-5 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211601
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210576
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
C |
T |
8: 79,974,922 (GRCm39) |
E54K |
probably benign |
Het |
Als2 |
A |
C |
1: 59,206,358 (GRCm39) |
M1634R |
probably damaging |
Het |
Ankfy1 |
T |
C |
11: 72,640,246 (GRCm39) |
S531P |
probably benign |
Het |
Atp6v1e1 |
A |
G |
6: 120,778,020 (GRCm39) |
Y172H |
probably benign |
Het |
Brd1 |
C |
T |
15: 88,601,243 (GRCm39) |
V464M |
probably damaging |
Het |
Btaf1 |
A |
T |
19: 36,963,948 (GRCm39) |
T840S |
probably benign |
Het |
Btaf1 |
A |
T |
19: 36,966,373 (GRCm39) |
H1047L |
probably benign |
Het |
Cacnb2 |
A |
G |
2: 14,829,074 (GRCm39) |
D3G |
possibly damaging |
Het |
Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
Cgrrf1 |
G |
T |
14: 47,069,820 (GRCm39) |
G30C |
probably damaging |
Het |
Crnkl1 |
T |
C |
2: 145,761,715 (GRCm39) |
D614G |
probably benign |
Het |
Cyp2c23 |
C |
T |
19: 43,995,478 (GRCm39) |
V430I |
probably benign |
Het |
Dazl |
G |
A |
17: 50,588,309 (GRCm39) |
R289W |
probably benign |
Het |
Dsg1b |
C |
T |
18: 20,523,260 (GRCm39) |
P96S |
probably damaging |
Het |
Dusp14 |
A |
G |
11: 83,939,535 (GRCm39) |
S169P |
possibly damaging |
Het |
Egfem1 |
A |
G |
3: 29,206,075 (GRCm39) |
D91G |
probably benign |
Het |
Eif1 |
A |
G |
11: 100,211,650 (GRCm39) |
K95E |
probably damaging |
Het |
Fap |
C |
T |
2: 62,376,994 (GRCm39) |
V191I |
probably benign |
Het |
Flnc |
T |
C |
6: 29,447,403 (GRCm39) |
Y1069H |
probably damaging |
Het |
Fndc7 |
T |
C |
3: 108,776,464 (GRCm39) |
T526A |
possibly damaging |
Het |
Fras1 |
A |
T |
5: 96,881,791 (GRCm39) |
T2508S |
probably benign |
Het |
Gast |
T |
C |
11: 100,227,636 (GRCm39) |
S73P |
probably damaging |
Het |
Grap2 |
A |
G |
15: 80,507,947 (GRCm39) |
T4A |
possibly damaging |
Het |
Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
Hyal5 |
A |
T |
6: 24,876,523 (GRCm39) |
H132L |
probably benign |
Het |
Iqcm |
C |
A |
8: 76,396,021 (GRCm39) |
T188K |
possibly damaging |
Het |
Kank4 |
A |
G |
4: 98,668,370 (GRCm39) |
S26P |
probably damaging |
Het |
Lipo3 |
C |
T |
19: 33,762,257 (GRCm39) |
C80Y |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,621,314 (GRCm39) |
R963G |
probably benign |
Het |
Lrtm2 |
G |
A |
6: 119,294,444 (GRCm39) |
T229I |
probably damaging |
Het |
Mb21d2 |
A |
T |
16: 28,646,755 (GRCm39) |
D406E |
possibly damaging |
Het |
Meikin |
T |
A |
11: 54,290,697 (GRCm39) |
|
probably null |
Het |
Mybl1 |
A |
T |
1: 9,743,439 (GRCm39) |
F538I |
probably damaging |
Het |
Nectin2 |
T |
C |
7: 19,451,561 (GRCm39) |
D491G |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,450,347 (GRCm39) |
D511G |
probably null |
Het |
Nid2 |
T |
C |
14: 19,860,065 (GRCm39) |
C1328R |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,013,529 (GRCm39) |
M574L |
probably benign |
Het |
Nrap |
C |
T |
19: 56,310,211 (GRCm39) |
D1595N |
probably damaging |
Het |
Nrg3 |
G |
A |
14: 38,098,391 (GRCm39) |
P496S |
probably damaging |
Het |
Or4k41 |
A |
T |
2: 111,279,910 (GRCm39) |
I142F |
probably benign |
Het |
Pak3 |
G |
A |
X: 142,492,727 (GRCm39) |
V87I |
probably damaging |
Het |
Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
Phkb |
G |
T |
8: 86,648,858 (GRCm39) |
E225* |
probably null |
Het |
Plaa |
T |
C |
4: 94,458,125 (GRCm39) |
D615G |
probably damaging |
Het |
Prdm12 |
A |
G |
2: 31,541,959 (GRCm39) |
K223E |
probably damaging |
Het |
Prkd1 |
C |
A |
12: 50,430,205 (GRCm39) |
R634L |
possibly damaging |
Het |
Rassf3 |
T |
A |
10: 121,250,271 (GRCm39) |
I181F |
possibly damaging |
Het |
Samd8 |
G |
A |
14: 21,825,133 (GRCm39) |
V30M |
probably damaging |
Het |
Sema4f |
A |
T |
6: 82,895,608 (GRCm39) |
H308Q |
possibly damaging |
Het |
Skint4 |
G |
T |
4: 111,975,378 (GRCm39) |
V113L |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Slpi |
A |
G |
2: 164,198,158 (GRCm39) |
L12P |
probably damaging |
Het |
Smco1 |
A |
G |
16: 32,092,716 (GRCm39) |
Y129C |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,961,169 (GRCm39) |
K985R |
possibly damaging |
Het |
Stc1 |
T |
C |
14: 69,275,924 (GRCm39) |
I239T |
probably benign |
Het |
Suclg2 |
A |
T |
6: 95,474,649 (GRCm39) |
I372N |
probably damaging |
Het |
Tmed4 |
C |
A |
11: 6,224,233 (GRCm39) |
V80F |
probably damaging |
Het |
Top1 |
A |
G |
2: 160,544,688 (GRCm39) |
H268R |
probably damaging |
Het |
Triobp |
A |
T |
15: 78,857,900 (GRCm39) |
Q1167L |
probably benign |
Het |
Txndc16 |
G |
A |
14: 45,388,809 (GRCm39) |
P536L |
possibly damaging |
Het |
Usp13 |
C |
T |
3: 32,935,657 (GRCm39) |
A360V |
possibly damaging |
Het |
Vhl |
G |
A |
6: 113,606,423 (GRCm39) |
V147I |
probably benign |
Het |
Vldlr |
A |
T |
19: 27,195,021 (GRCm39) |
T3S |
probably damaging |
Het |
Vps54 |
T |
A |
11: 21,218,832 (GRCm39) |
D130E |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,319,897 (GRCm39) |
H375Q |
probably damaging |
Het |
Zfp87 |
A |
T |
13: 67,669,334 (GRCm39) |
N37K |
probably damaging |
Het |
|
Other mutations in Tnpo2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01338:Tnpo2
|
APN |
8 |
85,767,155 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01843:Tnpo2
|
APN |
8 |
85,777,137 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02475:Tnpo2
|
APN |
8 |
85,777,131 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02536:Tnpo2
|
APN |
8 |
85,771,696 (GRCm39) |
missense |
probably benign |
|
IGL02644:Tnpo2
|
APN |
8 |
85,771,109 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02721:Tnpo2
|
APN |
8 |
85,781,319 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03155:Tnpo2
|
APN |
8 |
85,771,709 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03198:Tnpo2
|
APN |
8 |
85,778,347 (GRCm39) |
missense |
possibly damaging |
0.75 |
boisterous
|
UTSW |
8 |
85,776,786 (GRCm39) |
missense |
probably damaging |
1.00 |
Raucous
|
UTSW |
8 |
85,767,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Tnpo2
|
UTSW |
8 |
85,767,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R0456:Tnpo2
|
UTSW |
8 |
85,781,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R0505:Tnpo2
|
UTSW |
8 |
85,773,991 (GRCm39) |
missense |
probably benign |
0.01 |
R0513:Tnpo2
|
UTSW |
8 |
85,780,158 (GRCm39) |
missense |
probably benign |
0.00 |
R0531:Tnpo2
|
UTSW |
8 |
85,776,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R0595:Tnpo2
|
UTSW |
8 |
85,778,670 (GRCm39) |
nonsense |
probably null |
|
R1113:Tnpo2
|
UTSW |
8 |
85,781,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R1308:Tnpo2
|
UTSW |
8 |
85,781,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Tnpo2
|
UTSW |
8 |
85,778,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R1965:Tnpo2
|
UTSW |
8 |
85,771,946 (GRCm39) |
critical splice donor site |
probably null |
|
R2057:Tnpo2
|
UTSW |
8 |
85,776,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:Tnpo2
|
UTSW |
8 |
85,780,475 (GRCm39) |
missense |
probably benign |
0.35 |
R3871:Tnpo2
|
UTSW |
8 |
85,781,380 (GRCm39) |
missense |
probably null |
0.98 |
R4095:Tnpo2
|
UTSW |
8 |
85,765,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R4611:Tnpo2
|
UTSW |
8 |
85,780,432 (GRCm39) |
missense |
probably benign |
0.38 |
R4925:Tnpo2
|
UTSW |
8 |
85,776,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R5744:Tnpo2
|
UTSW |
8 |
85,778,523 (GRCm39) |
nonsense |
probably null |
|
R6107:Tnpo2
|
UTSW |
8 |
85,780,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R6581:Tnpo2
|
UTSW |
8 |
85,782,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R6586:Tnpo2
|
UTSW |
8 |
85,771,831 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7173:Tnpo2
|
UTSW |
8 |
85,781,707 (GRCm39) |
missense |
probably benign |
0.05 |
R7196:Tnpo2
|
UTSW |
8 |
85,773,766 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7382:Tnpo2
|
UTSW |
8 |
85,776,748 (GRCm39) |
missense |
probably damaging |
0.98 |
R7383:Tnpo2
|
UTSW |
8 |
85,776,748 (GRCm39) |
missense |
probably damaging |
0.98 |
R7384:Tnpo2
|
UTSW |
8 |
85,776,748 (GRCm39) |
missense |
probably damaging |
0.98 |
R7385:Tnpo2
|
UTSW |
8 |
85,776,748 (GRCm39) |
missense |
probably damaging |
0.98 |
R7453:Tnpo2
|
UTSW |
8 |
85,781,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R7488:Tnpo2
|
UTSW |
8 |
85,781,663 (GRCm39) |
missense |
probably benign |
0.03 |
R7638:Tnpo2
|
UTSW |
8 |
85,771,044 (GRCm39) |
missense |
probably benign |
0.01 |
R8004:Tnpo2
|
UTSW |
8 |
85,771,328 (GRCm39) |
missense |
probably benign |
0.26 |
R8021:Tnpo2
|
UTSW |
8 |
85,781,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R8042:Tnpo2
|
UTSW |
8 |
85,778,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R8403:Tnpo2
|
UTSW |
8 |
85,773,926 (GRCm39) |
missense |
probably benign |
0.02 |
R8794:Tnpo2
|
UTSW |
8 |
85,765,114 (GRCm39) |
missense |
probably benign |
0.14 |
R9031:Tnpo2
|
UTSW |
8 |
85,780,163 (GRCm39) |
missense |
probably benign |
0.17 |
R9218:Tnpo2
|
UTSW |
8 |
85,776,609 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9456:Tnpo2
|
UTSW |
8 |
85,774,015 (GRCm39) |
missense |
probably benign |
0.01 |
R9747:Tnpo2
|
UTSW |
8 |
85,781,988 (GRCm39) |
missense |
probably benign |
|
X0027:Tnpo2
|
UTSW |
8 |
85,771,524 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACGTCCCTTAGGAACATC -3'
(R):5'- GGAACTGCTCTGAGAACTGTTGC -3'
Sequencing Primer
(F):5'- TCCCTTAGGAACATCCGGGAC -3'
(R):5'- CCAACTTGGTCTTTGAAGCCATGG -3'
|
Posted On |
2015-03-25 |