Mutagenetix > Incidental Mutation

Incidental Mutation 'R7385:Tnpo2'

573035

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

045467-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85763544-85784212 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85776748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 485 (R485H)

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: R485H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: R485H

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: R485H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: R485H

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

possibly damaging
Transcript: ENSMUST00000211601
AA Change: R485H

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	C	1: 179,580,946 (GRCm39)	E1752G	possibly damaging	Het
Aqp3	T	C	4: 41,095,178 (GRCm39)	T68A	probably damaging	Het
Arhgap40	A	G	2: 158,385,147 (GRCm39)	K463R	probably damaging	Het
Asb10	A	T	5: 24,738,736 (GRCm39)	C440*	probably null	Het
Bach1	A	G	16: 87,526,385 (GRCm39)	T616A	probably damaging	Het
Braf	T	A	6: 39,642,042 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,020,371 (GRCm39)	N803Y	probably damaging	Het
Cald1	A	G	6: 34,663,000 (GRCm39)	E21G	probably damaging	Het
Caskin1	G	T	17: 24,722,898 (GRCm39)	G589C	probably damaging	Het
Cdc37l1	T	C	19: 28,968,071 (GRCm39)		probably null	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col5a1	T	C	2: 27,914,762 (GRCm39)	L1615P	unknown	Het
Cpt1a	C	A	19: 3,430,155 (GRCm39)	P672T	probably damaging	Het
Defb22	A	G	2: 152,328,117 (GRCm39)	Y23H	probably damaging	Het
Depdc1b	G	C	13: 108,500,166 (GRCm39)	K226N	probably damaging	Het
Derl2	A	G	11: 70,909,764 (GRCm39)		probably benign	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dsg3	C	A	18: 20,673,254 (GRCm39)	T975K	possibly damaging	Het
Eif4enif1	T	A	11: 3,170,269 (GRCm39)	D107E	probably damaging	Het
Fut11	A	G	14: 20,746,325 (GRCm39)	D389G	probably damaging	Het
Gopc	C	T	10: 52,225,328 (GRCm39)	G299E	probably damaging	Het
Gprin1	T	C	13: 54,886,423 (GRCm39)	D617G	probably benign	Het
Grin2d	A	G	7: 45,506,960 (GRCm39)	V505A	probably damaging	Het
Heatr6	T	C	11: 83,650,161 (GRCm39)	Y206H	probably damaging	Het
Hhex	C	A	19: 37,425,713 (GRCm39)	N147K	probably damaging	Het
Igkv4-80	G	A	6: 68,993,699 (GRCm39)	S64F	probably damaging	Het
Jakmip3	A	G	7: 138,625,068 (GRCm39)	K360R	possibly damaging	Het
Kat5	AG	A	19: 5,658,297 (GRCm39)		probably null	Het
Kat5	T	A	19: 5,658,302 (GRCm39)	N191I	probably benign	Het
Kifc5b	A	G	17: 27,144,597 (GRCm39)	D572G	probably damaging	Het
Lrp5	C	A	19: 3,662,197 (GRCm39)		probably null	Het
Lrtm1	A	G	14: 28,749,673 (GRCm39)	M345V	probably benign	Het
Mbd5	T	C	2: 49,162,461 (GRCm39)	V981A	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mrgprd	A	G	7: 144,875,261 (GRCm39)	N44S	probably damaging	Het
Mrps10	C	A	17: 47,689,146 (GRCm39)	P181Q	probably damaging	Het
Myot	T	A	18: 44,470,075 (GRCm39)	C17*	probably null	Het
Myt1	A	G	2: 181,409,498 (GRCm39)		probably null	Het
Ncoa6	C	A	2: 155,249,721 (GRCm39)	L1194F	probably damaging	Het
Or4d11	T	C	19: 12,013,363 (GRCm39)	T248A	probably benign	Het
Or4d6	T	C	19: 12,086,061 (GRCm39)	N57S	probably damaging	Het
Or4e5	T	C	14: 52,727,638 (GRCm39)	Y261C	probably damaging	Het
Or7a39	C	A	10: 78,715,288 (GRCm39)	T94K	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Osbpl6	G	A	2: 76,379,794 (GRCm39)	G128E	probably damaging	Het
P3h3	A	T	6: 124,832,233 (GRCm39)	Y218N	probably damaging	Het
Paxip1	A	G	5: 27,986,418 (GRCm39)		probably null	Het
Pdia5	T	C	16: 35,250,284 (GRCm39)	Y225C	probably damaging	Het
Pik3c2g	T	G	6: 139,801,079 (GRCm39)	M526R		Het
Prox1	A	G	1: 189,894,323 (GRCm39)	F41L	probably benign	Het
Psd3	A	T	8: 68,453,408 (GRCm39)	F284I	probably damaging	Het
Rev3l	T	A	10: 39,699,678 (GRCm39)	C1392S	probably benign	Het
Rfxank	A	T	8: 70,587,285 (GRCm39)	V212E	probably damaging	Het
Ros1	T	C	10: 52,031,222 (GRCm39)	D482G	probably benign	Het
Sat2	A	T	11: 69,513,763 (GRCm39)	I94F	probably damaging	Het
Scarf2	T	C	16: 17,621,702 (GRCm39)	L384P	probably damaging	Het
Sec14l2	C	A	11: 4,066,750 (GRCm39)	E21*	probably null	Het
Slitrk5	T	A	14: 111,918,131 (GRCm39)	V585E	probably benign	Het
Spata31h1	T	A	10: 82,123,571 (GRCm39)	E3146D	probably benign	Het
Spata31h1	T	C	10: 82,123,729 (GRCm39)	S3094G	probably benign	Het
Tas2r130	T	A	6: 131,607,226 (GRCm39)	M190L	probably benign	Het
Ticrr	G	A	7: 79,341,597 (GRCm39)	S1061N	possibly damaging	Het
Tlr9	C	A	9: 106,102,463 (GRCm39)	H585N	probably damaging	Het
Tmem219	A	T	7: 126,495,947 (GRCm39)	I142N	probably damaging	Het
Tnni2	A	G	7: 141,996,915 (GRCm39)	N8S	probably benign	Het
Ttc8	A	G	12: 98,908,547 (GRCm39)	E72G	possibly damaging	Het
Upf1	A	G	8: 70,793,268 (GRCm39)	Y297H	probably damaging	Het
Vmn1r4	A	G	6: 56,933,721 (GRCm39)	K75R	probably damaging	Het
Vmn2r78	G	A	7: 86,571,633 (GRCm39)	G481D	probably benign	Het
Vmn2r96	A	G	17: 18,803,302 (GRCm39)	Y404C	probably damaging	Het
Vps50	T	A	6: 3,602,708 (GRCm39)	S942T	probably benign	Het
Xkr7	C	A	2: 152,895,983 (GRCm39)	S279*	probably null	Het
Zan	G	A	5: 137,432,416 (GRCm39)	Q2294*	probably null	Het
Zan	T	C	5: 137,448,753 (GRCm39)	Y1700C	unknown	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
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'- CTCCTGGTAATTGCAGGCTG -3'
(R):5'- GGAAAGCTTCATCAACCCTAGGG -3'

Sequencing Primer
(F):5'- CTGCATGCAGGGAATGGTGC -3'
(R):5'- AGCACCACAGGCAGCTAGG -3'

Posted On

2019-09-13