Incidental Mutation 'R4925:Tnpo2'
| ID |
378964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo2
|
| Ensembl Gene |
ENSMUSG00000031691 |
| Gene Name |
transportin 2 (importin 3, karyopherin beta 2b) |
| Synonyms |
Kpnb2b, 1110034O24Rik, TRN2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4925 (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 T
at 85776654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 454
(I454F)
|
| 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: I454F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: I454F
| 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: I454F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: I454F
| 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: ENSMUST00000210117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210461
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211601
AA Change: I454F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210576
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
A |
11: 58,316,540 (GRCm39) |
C173* |
probably null |
Het |
| 3425401B19Rik |
T |
A |
14: 32,385,137 (GRCm39) |
H276L |
possibly damaging |
Het |
| Adam21 |
T |
G |
12: 81,607,163 (GRCm39) |
M200L |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,832,182 (GRCm39) |
S974T |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,251,507 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
A |
G |
3: 89,853,930 (GRCm39) |
|
probably null |
Het |
| Brd8 |
T |
C |
18: 34,740,388 (GRCm39) |
T552A |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,988,733 (GRCm39) |
S1826G |
probably benign |
Het |
| Ccdc163 |
A |
G |
4: 116,568,528 (GRCm39) |
E77G |
possibly damaging |
Het |
| Ces2g |
A |
G |
8: 105,691,526 (GRCm39) |
R194G |
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,836,726 (GRCm39) |
|
probably null |
Het |
| Cln8 |
A |
G |
8: 14,945,004 (GRCm39) |
H106R |
possibly damaging |
Het |
| Col12a1 |
T |
G |
9: 79,582,077 (GRCm39) |
L1391F |
probably damaging |
Het |
| Col16a1 |
G |
A |
4: 129,947,969 (GRCm39) |
D230N |
probably damaging |
Het |
| Crhbp |
C |
A |
13: 95,580,318 (GRCm39) |
G87V |
possibly damaging |
Het |
| Cyp3a16 |
C |
T |
5: 145,389,644 (GRCm39) |
M240I |
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,353,133 (GRCm39) |
W60R |
possibly damaging |
Het |
| Fam47e |
A |
G |
5: 92,733,149 (GRCm39) |
Y304C |
probably damaging |
Het |
| Fgfbp1 |
A |
T |
5: 44,136,634 (GRCm39) |
D219E |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,787,002 (GRCm39) |
Y485N |
probably damaging |
Het |
| Fhdc1 |
C |
T |
3: 84,360,840 (GRCm39) |
V363M |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,667,437 (GRCm39) |
E31V |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,692,605 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ghrl |
T |
C |
6: 113,693,218 (GRCm39) |
D77G |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,835,977 (GRCm39) |
V309A |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,731,472 (GRCm39) |
Y1622C |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,547,447 (GRCm39) |
M1555K |
possibly damaging |
Het |
| Grin2a |
T |
A |
16: 9,487,687 (GRCm39) |
N404Y |
probably damaging |
Het |
| Gtpbp1 |
A |
C |
15: 79,600,169 (GRCm39) |
I399L |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,460,753 (GRCm39) |
S911P |
possibly damaging |
Het |
| Igkc |
A |
T |
6: 70,703,520 (GRCm39) |
K34* |
probably null |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Iqgap1 |
T |
A |
7: 80,415,065 (GRCm39) |
I149F |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,101,309 (GRCm39) |
A1934V |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,410,944 (GRCm39) |
E1415* |
probably null |
Het |
| Lypd8l |
T |
A |
11: 58,501,513 (GRCm39) |
T157S |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,420,445 (GRCm39) |
C270G |
probably benign |
Het |
| Marveld3 |
A |
G |
8: 110,674,943 (GRCm39) |
V291A |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,786,645 (GRCm39) |
F917S |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,562,604 (GRCm39) |
D551E |
probably benign |
Het |
| Or1e23 |
A |
T |
11: 73,407,998 (GRCm39) |
I9N |
possibly damaging |
Het |
| Or4x6 |
T |
A |
2: 89,949,121 (GRCm39) |
T274S |
probably damaging |
Het |
| Or52h2 |
T |
C |
7: 103,839,387 (GRCm39) |
Y9C |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pla2g12a |
T |
C |
3: 129,672,467 (GRCm39) |
W34R |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,757,363 (GRCm39) |
F529S |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,048,961 (GRCm39) |
K273E |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,922,846 (GRCm39) |
D215V |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,104,502 (GRCm39) |
M1K |
probably null |
Het |
| Prdm1 |
T |
A |
10: 44,316,165 (GRCm39) |
Y690F |
probably damaging |
Het |
| Prkcd |
T |
A |
14: 30,329,570 (GRCm39) |
D124V |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,027,235 (GRCm39) |
D538Y |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,303,505 (GRCm39) |
V21M |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,688,023 (GRCm39) |
Y657F |
probably benign |
Het |
| Rrn3 |
T |
C |
16: 13,617,836 (GRCm39) |
C360R |
probably damaging |
Het |
| Scarb1 |
T |
C |
5: 125,374,363 (GRCm39) |
T257A |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,443,219 (GRCm39) |
M6K |
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,113,849 (GRCm39) |
Y429H |
probably benign |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Taar3 |
T |
A |
10: 23,826,441 (GRCm39) |
F329Y |
probably damaging |
Het |
| Tardbp |
A |
T |
4: 148,703,108 (GRCm39) |
N285K |
probably benign |
Het |
| Tcstv7b |
A |
G |
13: 120,702,384 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tnni2 |
A |
T |
7: 141,996,430 (GRCm39) |
E4V |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,308,316 (GRCm39) |
H1690Q |
probably benign |
Het |
| Trav18 |
T |
C |
14: 54,068,577 (GRCm39) |
S6P |
probably benign |
Het |
| Trf |
T |
C |
9: 103,096,445 (GRCm39) |
N25S |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,115 (GRCm39) |
N215S |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,892 (GRCm39) |
M1V |
probably null |
Het |
| Wdr64 |
T |
C |
1: 175,552,268 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
T |
C |
7: 80,542,943 (GRCm39) |
S222G |
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 |
|
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'- TATTGGATATGCCCCAGCCTTC -3'
(R):5'- TGAGGGCCACCGTAAGAATG -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CACCGTAAGAATGGGGGTC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation