Mutagenetix > Incidental Mutation

Incidental Mutation 'R7488:Tnpo2'

580340

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

045562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7488 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85763544-85784212 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85781663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 815 (E815G)

Ref Sequence

ENSEMBL: ENSMUSP00000091051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093360] [ENSMUST00000166592] [ENSMUST00000211601]

AlphaFold

Q99LG2

Predicted Effect

probably benign
Transcript: ENSMUST00000093360
AA Change: E815G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: E815G

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: ENSMUST00000166592
AA Change: E815G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: E815G

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 benign
Transcript: ENSMUST00000211601
AA Change: E805G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,197,179 (GRCm39)	F251I	possibly damaging	Het
Abcb11	C	T	2: 69,108,146 (GRCm39)	G717D	probably benign	Het
Abcc1	G	A	16: 14,207,763 (GRCm39)	W47*	probably null	Het
Ahnak2	A	G	12: 112,748,641 (GRCm39)	I402T		Het
Ankfy1	G	A	11: 72,650,769 (GRCm39)	R984Q	probably benign	Het
Apaf1	A	G	10: 90,890,242 (GRCm39)	I598T	probably benign	Het
Apobec1	G	T	6: 122,558,521 (GRCm39)	P78Q	possibly damaging	Het
Asap1	A	T	15: 63,991,974 (GRCm39)	I737N	probably benign	Het
Aste1	T	A	9: 105,279,904 (GRCm39)		probably null	Het
Bcr	A	C	10: 74,996,162 (GRCm39)	D902A	possibly damaging	Het
Bicra	T	C	7: 15,723,367 (GRCm39)		probably null	Het
Ccdc27	T	C	4: 154,117,424 (GRCm39)	T508A	probably benign	Het
Ccz1	T	A	5: 143,928,401 (GRCm39)	N383I	probably damaging	Het
Cdh24	T	C	14: 54,869,637 (GRCm39)	D760G	possibly damaging	Het
Cdhr2	T	C	13: 54,865,728 (GRCm39)	I242T	probably benign	Het
Cdk4	T	A	10: 126,900,106 (GRCm39)	M1K	probably null	Het
Cfap96	A	G	8: 46,415,331 (GRCm39)	V225A	probably benign	Het
Cntn5	A	T	9: 9,970,570 (GRCm39)	S302T	probably damaging	Het
Col25a1	G	T	3: 130,378,350 (GRCm39)	G601V	probably damaging	Het
Cpb1	A	G	3: 20,324,488 (GRCm39)	L62P	possibly damaging	Het
Cpne1	T	C	2: 155,919,857 (GRCm39)	T264A	probably benign	Het
Cpvl	T	A	6: 53,924,727 (GRCm39)	N198Y	probably damaging	Het
Cyp2u1	A	C	3: 131,091,596 (GRCm39)	L308R	probably damaging	Het
Ddx54	G	T	5: 120,762,789 (GRCm39)	V637L	probably benign	Het
Dglucy	C	A	12: 100,823,310 (GRCm39)	P472T	possibly damaging	Het
Dync2h1	A	G	9: 7,124,855 (GRCm39)	Y2006H	probably benign	Het
Eif5b	T	C	1: 38,089,387 (GRCm39)	M1121T	possibly damaging	Het
Emsy	A	G	7: 98,264,762 (GRCm39)	V545A	possibly damaging	Het
Ezh1	G	A	11: 101,091,726 (GRCm39)	L480F	possibly damaging	Het
Fbln2	T	A	6: 91,242,845 (GRCm39)		probably null	Het
Gja10	T	A	4: 32,602,058 (GRCm39)	K109*	probably null	Het
Gm28042	A	G	2: 119,870,438 (GRCm39)	N762S	probably benign	Het
Gnb1l	C	A	16: 18,359,220 (GRCm39)	P7Q	possibly damaging	Het
Grem2	A	T	1: 174,664,685 (GRCm39)	S55T	probably damaging	Het
Gsn	A	T	2: 35,186,433 (GRCm39)	N393I	possibly damaging	Het
H6pd	T	A	4: 150,067,093 (GRCm39)	Q439L	probably benign	Het
Hmcn2	G	A	2: 31,310,842 (GRCm39)	G3362E	probably damaging	Het
Ighv11-2	T	C	12: 114,011,978 (GRCm39)	Y79C	probably damaging	Het
Ikzf2	T	A	1: 69,578,544 (GRCm39)	N322Y	probably benign	Het
Il25	A	G	14: 55,170,459 (GRCm39)	I11V	probably benign	Het
Jak2	C	T	19: 29,275,783 (GRCm39)	T741I	probably damaging	Het
Kdm3b	T	C	18: 34,957,934 (GRCm39)	S1300P	probably damaging	Het
Ldb3	T	A	14: 34,289,402 (GRCm39)	Q268L	probably damaging	Het
Lrrc23	T	A	6: 124,756,075 (GRCm39)	D6V	unknown	Het
Megf10	A	G	18: 57,324,187 (GRCm39)	Y76C	probably damaging	Het
Neb	A	T	2: 52,110,233 (GRCm39)	M205K	probably benign	Het
Or12e8	T	C	2: 87,188,597 (GRCm39)	S270P	probably damaging	Het
Or6c2b	G	T	10: 128,947,605 (GRCm39)	Q230K	probably benign	Het
Or8a1	A	G	9: 37,641,983 (GRCm39)	S99P	probably damaging	Het
Pcnx3	G	A	19: 5,717,487 (GRCm39)	R1541W	possibly damaging	Het
Pdgfd	A	G	9: 6,359,739 (GRCm39)	Y270C	probably damaging	Het
Pds5b	A	T	5: 150,646,802 (GRCm39)	D197V	probably damaging	Het
Pknox2	A	G	9: 36,866,127 (GRCm39)	M30T	probably benign	Het
Plekhg1	A	T	10: 3,907,491 (GRCm39)	S858C		Het
Por	A	T	5: 135,762,498 (GRCm39)	E400D	probably benign	Het
Pou2af2	C	A	9: 51,201,360 (GRCm39)	R232L	probably damaging	Het
Psip1	A	G	4: 83,391,275 (GRCm39)		probably null	Het
Retreg1	G	T	15: 25,889,628 (GRCm39)	V111F		Het
Rock1	G	A	18: 10,122,762 (GRCm39)	A353V	probably damaging	Het
Rpl6	C	G	5: 121,346,591 (GRCm39)	R231G	probably benign	Het
Scn7a	C	T	2: 66,587,574 (GRCm39)	R43H	probably benign	Het
Scnn1g	T	A	7: 121,362,657 (GRCm39)	N488K	probably benign	Het
Slc24a1	A	G	9: 64,831,764 (GRCm39)	V1111A	probably benign	Het
Snapc1	C	T	12: 74,029,285 (GRCm39)	S356L	probably benign	Het
Spata31e2	T	C	1: 26,723,039 (GRCm39)	T714A	possibly damaging	Het
Ssbp2	T	A	13: 91,823,209 (GRCm39)	N201K	probably damaging	Het
Tfdp2	A	G	9: 96,179,695 (GRCm39)	N43D	probably damaging	Het
Tmprss11d	A	G	5: 86,474,309 (GRCm39)	I216T	probably damaging	Het
Tmprss4	A	G	9: 45,086,853 (GRCm39)	S303P	probably benign	Het
Trav6-1	A	C	14: 52,875,972 (GRCm39)	M1L	possibly damaging	Het
Trpm3	T	C	19: 22,955,937 (GRCm39)	V1133A	probably damaging	Het
Trpv1	C	T	11: 73,129,355 (GRCm39)	P91S	probably benign	Het
Trpv2	T	C	11: 62,480,576 (GRCm39)	Y338H	probably damaging	Het
Txnip	T	C	3: 96,467,539 (GRCm39)	M336T	probably benign	Het
Vmn1r61	A	T	7: 5,613,767 (GRCm39)	H182Q	possibly damaging	Het
Vmn2r105	A	G	17: 20,429,045 (GRCm39)	V677A	probably damaging	Het
Wwp1	G	T	4: 19,627,660 (GRCm39)	T745K	probably damaging	Het
Xkr5	C	A	8: 18,983,608 (GRCm39)	E645*	probably null	Het
Zfp451	C	T	1: 33,818,221 (GRCm39)	R303H	probably benign	Het
Zyg11b	T	C	4: 108,123,655 (GRCm39)	H104R	possibly 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
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'- ATTCCAGCCATCACCATCGG -3'
(R):5'- TTACCCAGGACTCCCATGAGAC -3'

Sequencing Primer
(F):5'- AGCAGTTCATCCGGCCTTG -3'
(R):5'- AGGTCATCCTTCGGGCTCAC -3'

Posted On

2019-10-07