Mutagenetix > Incidental Mutation

Incidental Mutation 'R0079:Trak2'

19584

Institutional Source

Beutler Lab

Gene Symbol

Trak2

Ensembl Gene

ENSMUSG00000026028

Gene Name

trafficking protein, kinesin binding 2

Synonyms

2900022D04Rik, GRIF-1, CALS-C, OIP98, GRIF1, Als2cr3, 4733401O11Rik

MMRRC Submission

038366-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58939608-59012589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58965883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 97 (L97Q)

Ref Sequence

ENSEMBL: ENSMUSP00000134253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027186] [ENSMUST00000173590] [ENSMUST00000174120]

AlphaFold

Q6P9N8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027186
AA Change: L97Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027186
Gene: ENSMUSG00000026028
AA Change: L97Q

Domain	Start	End	E-Value	Type
Pfam:HAP1_N	48	353	2.5e-135	PFAM
Pfam:Milton	426	565	3e-26	PFAM
low complexity region	663	673	N/A	INTRINSIC
low complexity region	693	714	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173590
AA Change: L32Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134499
Gene: ENSMUSG00000026028
AA Change: L32Q

Domain	Start	End	E-Value	Type
Pfam:HAP1_N	2	52	9.4e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174120
AA Change: L97Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134253
Gene: ENSMUSG00000026028
AA Change: L97Q

Domain	Start	End	E-Value	Type
Pfam:HAP1_N	47	354	1.3e-129	PFAM
Pfam:Milton	411	565	1.1e-41	PFAM

Meta Mutation Damage Score

0.8749

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

78% (155/199)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,057,183 (GRCm39)	T105S	possibly damaging	Het
Abca13	G	A	11: 9,243,493 (GRCm39)	M1785I	probably benign	Het
Adamts3	G	C	5: 89,840,912 (GRCm39)	P804A	probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ank2	G	T	3: 126,728,264 (GRCm39)	D776E	probably benign	Het
Cep152	T	A	2: 125,460,373 (GRCm39)	K193M	possibly damaging	Het
Cep55	C	T	19: 38,048,769 (GRCm39)	L142F	probably benign	Het
Chd5	A	G	4: 152,470,206 (GRCm39)	Y1884C	probably damaging	Het
Clasp1	T	C	1: 118,471,034 (GRCm39)	L890P	probably damaging	Het
Cul9	C	A	17: 46,848,589 (GRCm39)	E716*	probably null	Het
Cytip	T	A	2: 58,050,006 (GRCm39)	D21V	probably benign	Het
Denr	T	G	5: 124,062,908 (GRCm39)	F137C	probably damaging	Het
Dhrs3	A	T	4: 144,646,618 (GRCm39)	S197C	probably damaging	Het
Egr4	A	T	6: 85,489,751 (GRCm39)	M103K	probably damaging	Het
Eif4enif1	C	T	11: 3,192,676 (GRCm39)	Q835*	probably null	Het
Gckr	A	G	5: 31,463,883 (GRCm39)	I268V	probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Hpd	T	C	5: 123,319,544 (GRCm39)	Y8C	probably damaging	Het
Il12rb2	A	T	6: 67,338,889 (GRCm39)	F16I	probably benign	Het
Ildr2	A	T	1: 166,135,289 (GRCm39)	Y347F	probably damaging	Het
Kcnv1	T	C	15: 44,976,729 (GRCm39)	D186G	probably damaging	Het
Khdrbs2	A	G	1: 32,558,996 (GRCm39)		probably null	Het
L1cam	G	T	X: 72,913,364 (GRCm39)	P16H	probably damaging	Het
Lyn	A	G	4: 3,746,768 (GRCm39)	H161R	probably damaging	Het
Mctp2	T	A	7: 71,863,864 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mitf	A	C	6: 97,973,401 (GRCm39)	M220L	probably benign	Het
Mrpl21	T	C	19: 3,334,807 (GRCm39)	Y50H	possibly damaging	Het
Myh1	T	A	11: 67,104,237 (GRCm39)	L968Q	probably damaging	Het
Myo3b	A	G	2: 69,925,502 (GRCm39)	K18E	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,330,729 (GRCm39)	T556S	possibly damaging	Het
Nsmf	T	C	2: 24,949,096 (GRCm39)		probably benign	Het
Nsun7	C	T	5: 66,452,856 (GRCm39)	P558S	probably benign	Het
Or10h5	G	A	17: 33,435,079 (GRCm39)	R80C	probably benign	Het
Or1e34	T	G	11: 73,778,563 (GRCm39)	I212L	probably benign	Het
Or56a3	T	C	7: 104,735,135 (GRCm39)	S71P	probably damaging	Het
Or5d40	A	T	2: 88,015,698 (GRCm39)	Y159F	possibly damaging	Het
Phf19	T	C	2: 34,785,966 (GRCm39)	N501S	probably benign	Het
Ranbp17	A	C	11: 33,450,682 (GRCm39)	I85S	probably damaging	Het
Robo1	A	G	16: 72,730,230 (GRCm39)		probably benign	Het
Sntg1	A	G	1: 8,749,286 (GRCm39)		probably benign	Het
Snx15	A	G	19: 6,173,943 (GRCm39)	L58P	probably damaging	Het
Spink5	G	T	18: 44,110,831 (GRCm39)	C134F	probably damaging	Het
Strip2	T	C	6: 29,920,532 (GRCm39)		probably null	Het
Taf1d	C	T	9: 15,221,240 (GRCm39)	A182V	probably benign	Het
Tenm3	A	G	8: 48,796,380 (GRCm39)	V475A	possibly damaging	Het
Tent4b	T	A	8: 88,926,631 (GRCm39)	Y14N	possibly damaging	Het
Tgds	A	T	14: 118,353,647 (GRCm39)	H223Q	possibly damaging	Het
Thoc2	G	T	X: 40,952,985 (GRCm39)	S230Y	probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Trnau1ap	A	G	4: 132,041,656 (GRCm39)	Y145H	probably damaging	Het
Vars2	A	T	17: 35,970,048 (GRCm39)	D780E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,735 (GRCm39)	S46T	possibly damaging	Het
Vmn1r20	A	T	6: 57,408,777 (GRCm39)	R34S	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdr64	T	C	1: 175,622,668 (GRCm39)	M805T	probably benign	Het
Xdh	G	A	17: 74,198,213 (GRCm39)	R1225C	probably damaging	Het
Zfp341	T	A	2: 154,466,914 (GRCm39)	Y94*	probably null	Het
Zfp641	T	C	15: 98,186,970 (GRCm39)	N218D	probably benign	Het
Zscan22	T	C	7: 12,638,014 (GRCm39)		probably null	Het

Other mutations in Trak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Trak2	APN	1	58,962,766 (GRCm39)	missense	probably damaging	1.00
IGL01982:Trak2	APN	1	58,965,814 (GRCm39)	missense	possibly damaging	0.94
IGL02154:Trak2	APN	1	58,947,888 (GRCm39)	missense	probably damaging	1.00
IGL02399:Trak2	APN	1	58,949,204 (GRCm39)	missense	probably benign	0.00
IGL02732:Trak2	APN	1	58,949,222 (GRCm39)	missense	probably benign	0.19
IGL02734:Trak2	APN	1	58,949,222 (GRCm39)	missense	probably benign	0.19
IGL03147:Trak2	UTSW	1	58,949,222 (GRCm39)	missense	probably benign	0.19
P0041:Trak2	UTSW	1	58,949,123 (GRCm39)	missense	probably damaging	1.00
R0791:Trak2	UTSW	1	58,942,820 (GRCm39)	missense	probably benign
R0792:Trak2	UTSW	1	58,942,820 (GRCm39)	missense	probably benign
R1099:Trak2	UTSW	1	58,961,000 (GRCm39)	missense	probably benign	0.05
R1899:Trak2	UTSW	1	58,985,495 (GRCm39)	start codon destroyed	probably null	0.98
R1903:Trak2	UTSW	1	58,958,014 (GRCm39)	splice site	probably null
R2292:Trak2	UTSW	1	58,974,916 (GRCm39)	missense	probably damaging	0.99
R2312:Trak2	UTSW	1	58,974,941 (GRCm39)	missense	probably damaging	1.00
R3720:Trak2	UTSW	1	58,985,404 (GRCm39)	critical splice donor site	probably null
R4966:Trak2	UTSW	1	58,958,480 (GRCm39)	missense	probably damaging	1.00
R5088:Trak2	UTSW	1	58,974,967 (GRCm39)	missense	probably benign	0.06
R5730:Trak2	UTSW	1	58,960,966 (GRCm39)	missense	probably damaging	1.00
R5840:Trak2	UTSW	1	58,958,432 (GRCm39)	missense	probably damaging	1.00
R5981:Trak2	UTSW	1	58,947,849 (GRCm39)	missense	probably benign	0.01
R6000:Trak2	UTSW	1	58,950,971 (GRCm39)	missense	possibly damaging	0.71
R6053:Trak2	UTSW	1	58,943,228 (GRCm39)	missense	possibly damaging	0.62
R6894:Trak2	UTSW	1	58,950,892 (GRCm39)	missense	probably damaging	1.00
R6916:Trak2	UTSW	1	58,949,184 (GRCm39)	missense	probably benign	0.06
R7096:Trak2	UTSW	1	58,942,749 (GRCm39)	missense	probably damaging	1.00
R7544:Trak2	UTSW	1	58,960,227 (GRCm39)	splice site	probably null
R7847:Trak2	UTSW	1	58,974,977 (GRCm39)	missense	possibly damaging	0.88
R7889:Trak2	UTSW	1	58,957,983 (GRCm39)	missense	probably damaging	1.00
R8039:Trak2	UTSW	1	58,985,447 (GRCm39)	missense	probably benign	0.16
R8313:Trak2	UTSW	1	58,960,306 (GRCm39)	nonsense	probably null
R8728:Trak2	UTSW	1	58,974,934 (GRCm39)	missense	probably benign	0.01
R8930:Trak2	UTSW	1	58,974,967 (GRCm39)	missense	probably benign
R8932:Trak2	UTSW	1	58,974,967 (GRCm39)	missense	probably benign
R9263:Trak2	UTSW	1	58,985,481 (GRCm39)	missense	probably benign	0.01
R9291:Trak2	UTSW	1	58,943,058 (GRCm39)	missense	probably damaging	1.00
R9404:Trak2	UTSW	1	58,960,296 (GRCm39)	missense	possibly damaging	0.53
R9670:Trak2	UTSW	1	58,985,463 (GRCm39)	nonsense	probably null
X0067:Trak2	UTSW	1	58,947,691 (GRCm39)	missense	probably benign	0.18

Predicted Primers

Posted On

2013-04-11