Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02475:Tnpo2'

294901

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnpo2

Ensembl Gene

ENSMUSG00000031691

Gene Name

transportin 2 (importin 3, karyopherin beta 2b)

Synonyms

Kpnb2b, TRN2, 1110034O24Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

85036915-85057583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85050502 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 547 (D547G)

Ref Sequence

ENSEMBL: ENSMUSP00000133076 (fasta)

Gene Model

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

AlphaFold

Q99LG2

Predicted Effect

probably benign
Transcript: ENSMUST00000093360
AA Change: D547G

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: D547G

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 benign
Transcript: ENSMUST00000166592
AA Change: D547G

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: D547G

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 benign
Transcript: ENSMUST00000211601
AA Change: D547G

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,533		probably benign	Het
5730409E04Rik	A	G	4: 126,611,949	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849	I27N	probably damaging	Het
Akap6	A	T	12: 53,139,494	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,996,893	V31A	possibly damaging	Het
Cep350	G	A	1: 155,862,595	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,257,991		probably null	Het
Crcp	T	C	5: 130,059,858		probably benign	Het
Creb5	G	A	6: 53,693,924	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,150	D38G	probably benign	Het
Fam171a1	A	G	2: 3,223,490	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,857,735	V396A	possibly damaging	Het
Gm10340	G	A	14: 3,140,482		probably benign	Het
Gm20390	A	G	11: 93,955,574	V16A	probably damaging	Het
Grik3	A	G	4: 125,650,517	T344A	probably benign	Het
Itga7	T	C	10: 128,934,089	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936		probably benign	Het
Neb	G	T	2: 52,292,819	N1038K	probably damaging	Het
Nf1	T	C	11: 79,535,667	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,479,150	T632K	possibly damaging	Het
Nts	A	G	10: 102,490,247		probably benign	Het
Olfml2b	A	G	1: 170,682,174	D697G	probably damaging	Het
Olfr1031	T	C	2: 85,992,032	F72L	probably benign	Het
Olfr1502	T	A	19: 13,862,299	C169S	probably damaging	Het
Olfr205	A	T	16: 59,328,725	H261Q	probably benign	Het
Otof	T	C	5: 30,376,682	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Rnaseh2b	T	A	14: 62,346,615	F37I	probably damaging	Het
Rtn4	T	A	11: 29,733,801	I1031N	probably damaging	Het
Rxfp2	A	G	5: 150,063,686	E344G	probably benign	Het
Scel	A	G	14: 103,537,008	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,482,996	E39G	probably benign	Het
Slc6a12	T	A	6: 121,354,375		probably null	Het
Snapc3	C	A	4: 83,450,096	H277N	probably benign	Het
Susd2	A	G	10: 75,637,499		probably null	Het
Tagap1	T	C	17: 6,956,427	Q290R	probably benign	Het
Tenm3	A	T	8: 48,279,198		probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,377	S683P	probably damaging	Het
Tpd52l2	G	A	2: 181,499,874	V17M	probably benign	Het
Trip11	T	A	12: 101,895,683	T208S	probably benign	Het
Ttc17	C	A	2: 94,364,376	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,587,101	W222R	probably damaging	Het
Xkr8	A	T	4: 132,728,201	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,473,025	G354C	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het

Other mutations in Tnpo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Tnpo2	APN	8	85040526	missense	probably damaging	0.98
IGL01843:Tnpo2	APN	8	85050508	missense	probably damaging	0.99
IGL02536:Tnpo2	APN	8	85045067	missense	probably benign
IGL02644:Tnpo2	APN	8	85044480	missense	possibly damaging	0.62
IGL02721:Tnpo2	APN	8	85054690	critical splice acceptor site	probably null
IGL03155:Tnpo2	APN	8	85045080	missense	probably benign	0.03
IGL03198:Tnpo2	APN	8	85051718	missense	possibly damaging	0.75
boisterous	UTSW	8	85050157	missense	probably damaging	1.00
Raucous	UTSW	8	85040628	missense	probably damaging	1.00
R0127:Tnpo2	UTSW	8	85040628	missense	probably damaging	1.00
R0456:Tnpo2	UTSW	8	85054416	missense	probably damaging	1.00
R0505:Tnpo2	UTSW	8	85047362	missense	probably benign	0.01
R0513:Tnpo2	UTSW	8	85053529	missense	probably benign	0.00
R0531:Tnpo2	UTSW	8	85050157	missense	probably damaging	1.00
R0595:Tnpo2	UTSW	8	85052041	nonsense	probably null
R1113:Tnpo2	UTSW	8	85055353	missense	probably damaging	1.00
R1308:Tnpo2	UTSW	8	85055353	missense	probably damaging	1.00
R1851:Tnpo2	UTSW	8	85051772	missense	probably damaging	1.00
R1965:Tnpo2	UTSW	8	85045317	critical splice donor site	probably null
R2057:Tnpo2	UTSW	8	85050113	missense	probably damaging	1.00
R2184:Tnpo2	UTSW	8	85053846	missense	probably benign	0.35
R3801:Tnpo2	UTSW	8	85055171	splice site	probably null
R3871:Tnpo2	UTSW	8	85054751	missense	probably null	0.98
R4095:Tnpo2	UTSW	8	85038419	missense	probably damaging	1.00
R4611:Tnpo2	UTSW	8	85053803	missense	probably benign	0.38
R4925:Tnpo2	UTSW	8	85050025	missense	probably damaging	1.00
R5744:Tnpo2	UTSW	8	85051894	nonsense	probably null
R6107:Tnpo2	UTSW	8	85053475	missense	probably damaging	1.00
R6581:Tnpo2	UTSW	8	85055404	missense	probably damaging	1.00
R6586:Tnpo2	UTSW	8	85045202	missense	possibly damaging	0.83
R7173:Tnpo2	UTSW	8	85055078	missense	probably benign	0.05
R7196:Tnpo2	UTSW	8	85047137	missense	possibly damaging	0.91
R7382:Tnpo2	UTSW	8	85050119	missense	probably damaging	0.98
R7383:Tnpo2	UTSW	8	85050119	missense	probably damaging	0.98
R7384:Tnpo2	UTSW	8	85050119	missense	probably damaging	0.98
R7385:Tnpo2	UTSW	8	85050119	missense	probably damaging	0.98
R7453:Tnpo2	UTSW	8	85055022	missense	probably damaging	1.00
R7488:Tnpo2	UTSW	8	85055034	missense	probably benign	0.03
R7638:Tnpo2	UTSW	8	85044415	missense	probably benign	0.01
R8004:Tnpo2	UTSW	8	85044699	missense	probably benign	0.26
R8021:Tnpo2	UTSW	8	85055206	missense	probably damaging	1.00
R8042:Tnpo2	UTSW	8	85051559	missense	probably damaging	1.00
R8403:Tnpo2	UTSW	8	85047297	missense	probably benign	0.02
R8794:Tnpo2	UTSW	8	85038485	missense	probably benign	0.14
R9031:Tnpo2	UTSW	8	85053534	missense	probably benign	0.17
R9218:Tnpo2	UTSW	8	85049980	missense	possibly damaging	0.75
X0027:Tnpo2	UTSW	8	85044895	missense	probably benign	0.02

Posted On

2015-04-16