Incidental Mutation 'R6581:Tnpo2'
| ID |
523437 |
| 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 |
044705-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6581 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85763544-85784212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85782033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 874
(P874Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000095220]
[ENSMUST00000166592]
[ENSMUST00000211601]
|
| AlphaFold |
Q99LG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093360
AA Change: P884Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: P884Q
| 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: ENSMUST00000125244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156084
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166592
AA Change: P884Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: P884Q
| 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 damaging
Transcript: ENSMUST00000211601
AA Change: P874Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210576
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh8a1 |
G |
A |
10: 21,256,741 (GRCm39) |
V51M |
probably damaging |
Het |
| Cdh17 |
A |
T |
4: 11,799,615 (GRCm39) |
I471F |
probably damaging |
Het |
| Dnajb7 |
T |
A |
15: 81,292,226 (GRCm39) |
E37V |
probably damaging |
Het |
| Dpy19l1 |
T |
A |
9: 24,359,160 (GRCm39) |
I337F |
possibly damaging |
Het |
| Etv5 |
C |
T |
16: 22,258,449 (GRCm39) |
|
probably benign |
Het |
| Gbp2b |
T |
A |
3: 142,313,999 (GRCm39) |
Y426* |
probably null |
Het |
| Gm21103 |
A |
T |
14: 17,484,809 (GRCm39) |
N78K |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,871,172 (GRCm39) |
V2755A |
probably damaging |
Het |
| Itga9 |
A |
T |
9: 118,487,632 (GRCm39) |
E238D |
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,126,950 (GRCm39) |
C736S |
probably benign |
Het |
| Luzp1 |
A |
G |
4: 136,267,942 (GRCm39) |
E55G |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,900,574 (GRCm39) |
L589P |
probably damaging |
Het |
| Ms4a4d |
G |
A |
19: 11,532,204 (GRCm39) |
V117M |
probably damaging |
Het |
| Odad2 |
C |
T |
18: 7,129,560 (GRCm39) |
V873I |
possibly damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,013 (GRCm39) |
L14P |
probably damaging |
Het |
| Or3a1d |
A |
G |
11: 74,238,032 (GRCm39) |
F126S |
probably damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,428 (GRCm39) |
I59V |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,817,612 (GRCm39) |
D217E |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,829,035 (GRCm39) |
F525S |
probably damaging |
Het |
| Smyd5 |
G |
A |
6: 85,409,005 (GRCm39) |
D7N |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,826,859 (GRCm39) |
R152L |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,248,192 (GRCm39) |
S559P |
probably benign |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Uchl4 |
A |
T |
9: 64,143,075 (GRCm39) |
E185D |
possibly damaging |
Het |
| Vmn1r158 |
G |
A |
7: 22,489,465 (GRCm39) |
T248I |
possibly damaging |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,366 (GRCm39) |
F14L |
probably benign |
Het |
| Yaf2 |
T |
C |
15: 93,184,295 (GRCm39) |
T101A |
probably benign |
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 |
|
R3801:Tnpo2
|
UTSW |
8 |
85,781,800 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- TCTTCTGCGATGCTGTAGCC -3'
(R):5'- TCTGGAAGCAGCACATTCCC -3'
Sequencing Primer
(F):5'- TGCGATGCTGTAGCCTCCTG -3'
(R):5'- GAAGCAGCACATTCCCAGCAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation