Incidental Mutation 'R0456:Tnpo2'
| ID |
40024 |
| 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 |
038656-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0456 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85763544-85784212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85781045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 767
(N767S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000166592]
[ENSMUST00000211601]
|
| AlphaFold |
Q99LG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093360
AA Change: N767S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: N767S
| 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 |
noncoding transcript
Transcript: ENSMUST00000104339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156084
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166592
AA Change: N767S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: N767S
| 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 |
noncoding transcript
Transcript: ENSMUST00000210461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210576
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211601
AA Change: N767S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
G |
A |
18: 12,429,036 (GRCm39) |
P11L |
probably damaging |
Het |
| Antxr1 |
A |
C |
6: 87,194,257 (GRCm39) |
V347G |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,051,492 (GRCm39) |
N1127D |
probably benign |
Het |
| Bivm |
T |
A |
1: 44,165,969 (GRCm39) |
W140R |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,494,776 (GRCm39) |
V928A |
possibly damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,795 (GRCm39) |
Y152H |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,309,550 (GRCm39) |
I268F |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,839,100 (GRCm39) |
N439K |
probably damaging |
Het |
| Csf3r |
C |
A |
4: 125,929,654 (GRCm39) |
N392K |
probably damaging |
Het |
| Cyp1b1 |
T |
C |
17: 80,017,704 (GRCm39) |
I484V |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,232,169 (GRCm39) |
K280E |
probably damaging |
Het |
| Eefsec |
A |
G |
6: 88,274,870 (GRCm39) |
Y365H |
probably benign |
Het |
| Epb41l4b |
C |
T |
4: 57,142,843 (GRCm39) |
|
probably null |
Het |
| Erap1 |
G |
A |
13: 74,812,339 (GRCm39) |
V385I |
probably benign |
Het |
| Fat1 |
A |
T |
8: 45,482,571 (GRCm39) |
I3077F |
probably damaging |
Het |
| Fras1 |
T |
G |
5: 96,862,202 (GRCm39) |
|
probably null |
Het |
| Fras1 |
G |
T |
5: 96,702,647 (GRCm39) |
G230C |
probably damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,682 (GRCm39) |
M182T |
possibly damaging |
Het |
| Gzmg |
A |
G |
14: 56,395,779 (GRCm39) |
V60A |
probably damaging |
Het |
| H4c6 |
T |
C |
13: 23,735,561 (GRCm39) |
D86G |
probably damaging |
Het |
| Hapln4 |
A |
T |
8: 70,537,645 (GRCm39) |
Y113F |
probably benign |
Het |
| Ikzf4 |
T |
A |
10: 128,471,677 (GRCm39) |
T274S |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,774,885 (GRCm39) |
H302L |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,500,893 (GRCm39) |
V118A |
probably damaging |
Het |
| Kpna1 |
T |
C |
16: 35,823,270 (GRCm39) |
S41P |
possibly damaging |
Het |
| Krt23 |
A |
G |
11: 99,377,604 (GRCm39) |
V134A |
probably benign |
Het |
| Lamb1 |
G |
A |
12: 31,354,729 (GRCm39) |
C992Y |
probably damaging |
Het |
| Lrif1 |
C |
T |
3: 106,639,094 (GRCm39) |
P35S |
probably benign |
Het |
| Lrrc4 |
A |
G |
6: 28,831,103 (GRCm39) |
S171P |
probably damaging |
Het |
| Lvrn |
G |
A |
18: 46,997,883 (GRCm39) |
|
probably null |
Het |
| Matr3 |
T |
A |
18: 35,705,917 (GRCm39) |
F281I |
probably damaging |
Het |
| Meak7 |
A |
T |
8: 120,495,162 (GRCm39) |
F199I |
probably damaging |
Het |
| Nxn |
G |
A |
11: 76,153,963 (GRCm39) |
Q291* |
probably null |
Het |
| Or5b113 |
A |
G |
19: 13,342,102 (GRCm39) |
T37A |
probably damaging |
Het |
| Pdp2 |
G |
T |
8: 105,320,421 (GRCm39) |
R90L |
probably damaging |
Het |
| Ppp1r3c |
C |
A |
19: 36,711,291 (GRCm39) |
E160* |
probably null |
Het |
| Ppp2r5c |
T |
G |
12: 110,489,013 (GRCm39) |
S118R |
probably damaging |
Het |
| Ptpn23 |
G |
T |
9: 110,218,861 (GRCm39) |
|
probably null |
Het |
| Ptpro |
G |
T |
6: 137,391,228 (GRCm39) |
V783L |
probably benign |
Het |
| Rab40c |
A |
G |
17: 26,103,631 (GRCm39) |
V144A |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 156,977,413 (GRCm39) |
N1087S |
probably damaging |
Het |
| Rfc3 |
T |
A |
5: 151,570,988 (GRCm39) |
S103C |
possibly damaging |
Het |
| Rgl2 |
A |
G |
17: 34,155,823 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rit2 |
A |
T |
18: 31,108,504 (GRCm39) |
F160L |
probably benign |
Het |
| Rnh1 |
A |
G |
7: 140,742,461 (GRCm39) |
S366P |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,682,292 (GRCm39) |
Y2029C |
possibly damaging |
Het |
| Smpd3 |
T |
A |
8: 106,986,288 (GRCm39) |
I505F |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,642,483 (GRCm39) |
S379C |
possibly damaging |
Het |
| Sult1e1 |
A |
G |
5: 87,726,493 (GRCm39) |
L207P |
possibly damaging |
Het |
| Sycp2 |
C |
G |
2: 178,023,648 (GRCm39) |
S456T |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,292,252 (GRCm39) |
T1339A |
probably benign |
Het |
| Tas2r117 |
A |
G |
6: 132,780,354 (GRCm39) |
N164S |
probably benign |
Het |
| Tigd3 |
A |
G |
19: 5,942,821 (GRCm39) |
L103P |
probably damaging |
Het |
| Tmem132b |
T |
C |
5: 125,864,788 (GRCm39) |
S965P |
probably damaging |
Het |
| Tmem82 |
T |
C |
4: 141,344,701 (GRCm39) |
T81A |
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,685,618 (GRCm39) |
T156A |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,982 (GRCm39) |
E198G |
probably benign |
Het |
| Trf |
T |
C |
9: 103,104,102 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tst |
A |
G |
15: 78,289,780 (GRCm39) |
V85A |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,507,507 (GRCm39) |
N503K |
probably damaging |
Het |
| Utp20 |
C |
T |
10: 88,590,435 (GRCm39) |
M2346I |
possibly damaging |
Het |
| Vax2 |
A |
G |
6: 83,688,388 (GRCm39) |
D37G |
probably benign |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,665 (GRCm39) |
L79* |
probably null |
Het |
| Zbtb3 |
A |
T |
19: 8,780,564 (GRCm39) |
D59V |
probably damaging |
Het |
| Zdhhc13 |
T |
C |
7: 48,458,602 (GRCm39) |
F182S |
probably benign |
Het |
| Zfp426 |
A |
G |
9: 20,381,593 (GRCm39) |
F465L |
probably damaging |
Het |
| Zfp526 |
A |
G |
7: 24,925,637 (GRCm39) |
E632G |
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 |
|
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 |
|
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'- CAGTTTGTTCCTACTGACCGGACC -3'
(R):5'- TTTGGCCCATAGAGGTGTTCTCCC -3'
Sequencing Primer
(F):5'- CTGGGTAATGACTTCAGAGACTCC -3'
(R):5'- ATAGAGGTGTTCTCCCCACCC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation