Incidental Mutation 'R8042:Tnpo2'
| ID |
618576 |
| 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 |
067479-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85763544-85784212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85778188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 564
(P564S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000166592]
[ENSMUST00000211601]
|
| AlphaFold |
Q99LG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093360
AA Change: P564S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: P564S
| 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 damaging
Transcript: ENSMUST00000166592
AA Change: P564S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: P564S
| 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: P564S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 120,002,233 (GRCm39) |
Y1582C |
possibly damaging |
Het |
| Acly |
A |
G |
11: 100,405,151 (GRCm39) |
I339T |
probably damaging |
Het |
| Adcy4 |
A |
G |
14: 56,012,696 (GRCm39) |
V541A |
probably benign |
Het |
| Arhgef3 |
T |
A |
14: 27,084,766 (GRCm39) |
V45D |
possibly damaging |
Het |
| Azi2 |
C |
A |
9: 117,891,165 (GRCm39) |
Q397K |
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,611,445 (GRCm39) |
S451* |
probably null |
Het |
| Cacna2d3 |
A |
T |
14: 28,826,995 (GRCm39) |
|
probably benign |
Het |
| Cep85l |
A |
G |
10: 53,224,759 (GRCm39) |
Y277H |
probably damaging |
Het |
| Cep97 |
C |
A |
16: 55,731,965 (GRCm39) |
V608L |
probably benign |
Het |
| Crb1 |
T |
A |
1: 139,242,392 (GRCm39) |
Y362F |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,920,669 (GRCm39) |
|
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,471,196 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
C |
12: 40,795,759 (GRCm39) |
F859L |
probably benign |
Het |
| Errfi1 |
T |
C |
4: 150,950,914 (GRCm39) |
F114S |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,242,108 (GRCm39) |
I150F |
probably damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,518,888 (GRCm39) |
T1898M |
probably damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,507,680 (GRCm39) |
T394S |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,838,673 (GRCm39) |
E1115G |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,917,753 (GRCm39) |
S552G |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,123,203 (GRCm39) |
Y263* |
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,862,301 (GRCm39) |
I173V |
probably benign |
Het |
| Mrc2 |
T |
C |
11: 105,239,181 (GRCm39) |
V1312A |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,097,429 (GRCm39) |
I465F |
probably damaging |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,273,210 (GRCm39) |
D196G |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,931,143 (GRCm39) |
D5028G |
possibly damaging |
Het |
| Pabpc1 |
A |
G |
15: 36,598,553 (GRCm39) |
F447S |
probably benign |
Het |
| Pcsk6 |
T |
G |
7: 65,577,683 (GRCm39) |
N201K |
possibly damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,393,881 (GRCm39) |
T850A |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,480 (GRCm39) |
D2564G |
|
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,595,144 (GRCm39) |
T939A |
probably benign |
Het |
| Serpine1 |
A |
T |
5: 137,095,855 (GRCm39) |
L242H |
probably benign |
Het |
| Slc27a4 |
T |
A |
2: 29,701,202 (GRCm39) |
V331E |
probably damaging |
Het |
| Slc6a6 |
A |
C |
6: 91,718,226 (GRCm39) |
I347L |
probably benign |
Het |
| Spns2 |
A |
T |
11: 72,345,003 (GRCm39) |
L495H |
possibly damaging |
Het |
| Stam2 |
A |
G |
2: 52,596,409 (GRCm39) |
|
probably null |
Het |
| Syt12 |
C |
A |
19: 4,503,852 (GRCm39) |
V260F |
probably damaging |
Het |
| Tdrd7 |
T |
A |
4: 45,987,516 (GRCm39) |
S50T |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,775,264 (GRCm39) |
V39E |
probably damaging |
Het |
| Tmem147 |
T |
A |
7: 30,427,978 (GRCm39) |
S75C |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,796,980 (GRCm39) |
V1A |
|
Het |
| Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,819,010 (GRCm39) |
L327S |
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 |
|
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 |
|
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 |
|
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'- ACAGTTATTAGGTAGCATGGCCG -3'
(R):5'- GTAACACAGCGCTGGTAGAC -3'
Sequencing Primer
(F):5'- TAGCATGGCCGCTGCTG -3'
(R):5'- CTGGTAGACAGGCTCGCAGTAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation