Mutagenetix > Incidental Mutation

Incidental Mutation 'R7847:Trak2'

606660

Institutional Source

Beutler Lab

Gene Symbol

Trak2

Ensembl Gene

ENSMUSG00000026028

Gene Name

trafficking protein, kinesin binding 2

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58900449-58973430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58935818 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 72 (S72A)

Ref Sequence

ENSEMBL: ENSMUSP00000027186 (fasta)

Gene Model

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

AlphaFold

Q6P9N8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027186
AA Change: S72A

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027186
Gene: ENSMUSG00000026028
AA Change: S72A

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 benign
Transcript: ENSMUST00000173590

SMART Domains

Protein: ENSMUSP00000134499
Gene: ENSMUSG00000026028

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174120
AA Change: S72A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134253
Gene: ENSMUSG00000026028
AA Change: S72A

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

0.1708

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,568,652	Y296N	probably benign	Het
Abcc4	T	C	14: 118,627,480	E378G	probably damaging	Het
Acp2	C	T	2: 91,210,732	H422Y	possibly damaging	Het
Aldoart1	C	T	4: 72,851,956	C205Y	probably damaging	Het
Alg9	T	C	9: 50,789,605	L225S	possibly damaging	Het
Anapc1	A	C	2: 128,669,908	V455G	possibly damaging	Het
Arhgef5	C	A	6: 43,275,135	S940*	probably null	Het
Asb15	C	A	6: 24,564,267	A240E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,042,160		probably benign	Het
Ccdc17	A	G	4: 116,599,906	E529G	probably benign	Het
Cyp2b10	T	C	7: 25,897,760	S26P	possibly damaging	Het
Dcp1b	T	C	6: 119,215,295	S391P	probably benign	Het
Dock6	A	T	9: 21,801,207	L2086Q	unknown	Het
Ephx1	A	G	1: 181,001,861	S41P	probably benign	Het
Erbb3	G	A	10: 128,571,189	T1034M	probably damaging	Het
Gm17334	T	A	11: 53,772,738		probably benign	Het
Golgb1	A	G	16: 36,931,920	H3227R	probably damaging	Het
Grin2c	G	A	11: 115,260,978	P52L	possibly damaging	Het
Herc2	T	C	7: 56,157,560		probably null	Het
Il17rb	A	G	14: 29,996,806	Y440H	probably damaging	Het
Kcng4	A	G	8: 119,626,142	L343P	probably damaging	Het
Knl1	G	A	2: 119,070,976	E1053K	probably benign	Het
Lipo4	A	T	19: 33,514,199	V128E	possibly damaging	Het
Lmntd2	T	C	7: 141,210,150	N650D	probably benign	Het
Lrrfip2	T	C	9: 111,213,880	L460P	probably damaging	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mtcl1	T	C	17: 66,344,333	Q1379R	probably damaging	Het
Mtfr2	G	A	10: 20,357,452	A256T	probably benign	Het
Mup17	T	A	4: 61,593,219	H159L	probably benign	Het
Ndufaf1	A	T	2: 119,660,053	D175E	probably damaging	Het
Nup210l	A	G	3: 90,151,123	M610V	probably benign	Het
Olfr1338	G	T	4: 118,754,368	H59N	possibly damaging	Het
Olfr1354	T	A	10: 78,916,896	S19T	probably benign	Het
Olfr955	A	G	9: 39,470,505	S74P	probably benign	Het
Pard3b	A	G	1: 62,343,934	D729G	probably benign	Het
Phactr1	T	C	13: 43,057,188	L169P	possibly damaging	Het
Rad54b	T	A	4: 11,612,655	S762R	probably damaging	Het
Senp5	C	T	16: 31,990,173	V88I	probably benign	Het
Specc1l	T	C	10: 75,309,836	V1105A	probably damaging	Het
Ttyh2	T	C	11: 114,675,674		probably null	Het
Ush2a	G	A	1: 188,430,808	C1029Y	probably damaging	Het
Vmn2r17	A	G	5: 109,420,197	Y62C	probably damaging	Het
Vmn2r41	A	G	7: 8,161,548	F2L	probably benign	Het
Xirp1	G	T	9: 120,019,753	D21E	possibly damaging	Het
Zfp114	C	A	7: 24,181,035	Q270K	possibly damaging	Het
Zfp341	T	C	2: 154,634,194	S441P	probably damaging	Het
Zfp780b	A	C	7: 27,964,418	H237Q	probably benign	Het

Other mutations in Trak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Trak2	APN	1	58923607	missense	probably damaging	1.00
IGL01982:Trak2	APN	1	58926655	missense	possibly damaging	0.94
IGL02154:Trak2	APN	1	58908729	missense	probably damaging	1.00
IGL02399:Trak2	APN	1	58910045	missense	probably benign	0.00
IGL02732:Trak2	APN	1	58910063	missense	probably benign	0.19
IGL02734:Trak2	APN	1	58910063	missense	probably benign	0.19
IGL03147:Trak2	UTSW	1	58910063	missense	probably benign	0.19
P0041:Trak2	UTSW	1	58909964	missense	probably damaging	1.00
R0079:Trak2	UTSW	1	58926724	missense	probably damaging	1.00
R0791:Trak2	UTSW	1	58903661	missense	probably benign
R0792:Trak2	UTSW	1	58903661	missense	probably benign
R1099:Trak2	UTSW	1	58921841	missense	probably benign	0.05
R1899:Trak2	UTSW	1	58946336	start codon destroyed	probably null	0.98
R1903:Trak2	UTSW	1	58918855	splice site	probably null
R2292:Trak2	UTSW	1	58935757	missense	probably damaging	0.99
R2312:Trak2	UTSW	1	58935782	missense	probably damaging	1.00
R3720:Trak2	UTSW	1	58946245	critical splice donor site	probably null
R4966:Trak2	UTSW	1	58919321	missense	probably damaging	1.00
R5088:Trak2	UTSW	1	58935808	missense	probably benign	0.06
R5730:Trak2	UTSW	1	58921807	missense	probably damaging	1.00
R5840:Trak2	UTSW	1	58919273	missense	probably damaging	1.00
R5981:Trak2	UTSW	1	58908690	missense	probably benign	0.01
R6000:Trak2	UTSW	1	58911812	missense	possibly damaging	0.71
R6053:Trak2	UTSW	1	58904069	missense	possibly damaging	0.62
R6894:Trak2	UTSW	1	58911733	missense	probably damaging	1.00
R6916:Trak2	UTSW	1	58910025	missense	probably benign	0.06
R7096:Trak2	UTSW	1	58903590	missense	probably damaging	1.00
R7544:Trak2	UTSW	1	58921068	splice site	probably null
R7889:Trak2	UTSW	1	58918824	missense	probably damaging	1.00
R8039:Trak2	UTSW	1	58946288	missense	probably benign	0.16
R8313:Trak2	UTSW	1	58921147	nonsense	probably null
R8728:Trak2	UTSW	1	58935775	missense	probably benign	0.01
R8930:Trak2	UTSW	1	58935808	missense	probably benign
R8932:Trak2	UTSW	1	58935808	missense	probably benign
R9263:Trak2	UTSW	1	58946322	missense	probably benign	0.01
R9291:Trak2	UTSW	1	58903899	missense	probably damaging	1.00
R9404:Trak2	UTSW	1	58921137	missense	possibly damaging	0.53
R9670:Trak2	UTSW	1	58946304	nonsense	probably null
X0067:Trak2	UTSW	1	58908532	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- GGTGAACACTGAACAATGGCTAC -3'
(R):5'- TGGTTGCCTACTTTCAAAGAAC -3'

Sequencing Primer
(F):5'- CACTGAACAATGGCTACTAAATGCTG -3'
(R):5'- CACTACAGCTTGATAAGTGGAAC -3'

Posted On

2019-12-20