Mutagenetix > Incidental Mutation

Incidental Mutation 'R8728:Trak2'

662552

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

068576-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58939608-59012589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58974934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 86 (V86A)

Ref Sequence

ENSEMBL: ENSMUSP00000027186 (fasta)

Gene Model

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

AlphaFold

Q6P9N8

Predicted Effect

probably benign
Transcript: ENSMUST00000027186
AA Change: V86A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000027186
Gene: ENSMUSG00000026028
AA Change: V86A

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

probably benign
Transcript: ENSMUST00000174120
AA Change: V86A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000134253
Gene: ENSMUSG00000026028
AA Change: V86A

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

0.1162

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	G	14: 66,295,086 (GRCm39)	L253P	probably damaging	Het
Adamts20	C	T	15: 94,229,281 (GRCm39)	G946D	probably benign	Het
Afdn	A	G	17: 14,119,207 (GRCm39)	R1648G	probably damaging	Het
Ak9	G	A	10: 41,282,959 (GRCm39)	A1242T		Het
Anxa9	T	C	3: 95,209,979 (GRCm39)	K127E	probably damaging	Het
Atp6v0a2	T	C	5: 124,796,152 (GRCm39)	S739P	probably benign	Het
Bloc1s6	A	T	2: 122,588,026 (GRCm39)	M122L	possibly damaging	Het
Bltp3b	A	T	10: 89,618,582 (GRCm39)	M274L	probably benign	Het
Bms1	A	G	6: 118,369,331 (GRCm39)	I990T	possibly damaging	Het
Ccdc9b	T	C	2: 118,587,793 (GRCm39)	T514A	probably benign	Het
Cdk14	G	A	5: 5,470,117 (GRCm39)		silent	Het
Celsr3	T	C	9: 108,723,940 (GRCm39)	L2899S	probably benign	Het
Ces1b	A	T	8: 93,798,576 (GRCm39)	D203E	probably benign	Het
Cnnm1	A	G	19: 43,473,365 (GRCm39)	N753S	probably benign	Het
Col19a1	C	T	1: 24,365,113 (GRCm39)	G501R	probably damaging	Het
Cym	A	G	3: 107,125,991 (GRCm39)	F91L	possibly damaging	Het
Cyp2c67	T	G	19: 39,614,605 (GRCm39)	R307S	probably damaging	Het
Cyp3a59	G	A	5: 146,035,122 (GRCm39)		probably null	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Dagla	G	A	19: 10,225,771 (GRCm39)	R798C	probably damaging	Het
Dcaf1	C	T	9: 106,724,005 (GRCm39)	R478C	possibly damaging	Het
Dcbld1	T	C	10: 52,109,929 (GRCm39)	L28P	probably benign	Het
Ddr2	T	C	1: 169,829,552 (GRCm39)	D234G	possibly damaging	Het
Fam83a	T	A	15: 57,873,062 (GRCm39)	M297K	possibly damaging	Het
Galnt18	T	A	7: 111,119,243 (GRCm39)	D426V	probably damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm43302	T	C	5: 105,438,793 (GRCm39)	I32V	probably benign	Het
Gm9944	T	C	4: 144,179,601 (GRCm39)	Y96C	unknown	Het
Hdac1-ps	A	G	17: 78,800,332 (GRCm39)	K441R	probably benign	Het
Impdh2	C	T	9: 108,437,562 (GRCm39)		probably benign	Het
Iws1	G	A	18: 32,216,334 (GRCm39)	R358Q	probably damaging	Het
Kctd18	G	T	1: 58,002,289 (GRCm39)	D179E	probably damaging	Het
Krt13	T	G	11: 100,012,318 (GRCm39)	S2R	probably null	Het
Krt78	A	T	15: 101,856,225 (GRCm39)	S529T	probably benign	Het
Krtap4-7	C	G	11: 99,534,788 (GRCm39)	C25S	unknown	Het
Lama1	T	C	17: 68,125,663 (GRCm39)	I2940T		Het
Lmnb2	A	G	10: 80,740,913 (GRCm39)		probably null	Het
Lrrc27	A	T	7: 138,822,555 (GRCm39)	E482V	probably damaging	Het
Lrrc72	G	A	12: 36,258,656 (GRCm39)	T67M	probably benign	Het
Malrd1	T	A	2: 15,701,753 (GRCm39)	C789*	probably null	Het
Mei1	T	G	15: 81,966,182 (GRCm39)	V268G		Het
Mical3	C	A	6: 120,950,514 (GRCm39)	A966S	probably damaging	Het
Mmp10	C	T	9: 7,502,480 (GRCm39)	P29L	probably benign	Het
Mroh2b	T	C	15: 4,935,122 (GRCm39)	F186L	probably damaging	Het
Muc4	A	T	16: 32,754,952 (GRCm38)	T1609S	unknown	Het
Myrfl	A	T	10: 116,634,545 (GRCm39)	C616*	probably null	Het
Ncor1	C	T	11: 62,221,685 (GRCm39)	A946T	probably benign	Het
Or10al6	C	A	17: 38,082,642 (GRCm39)	L33M	probably damaging	Het
Or2t48	T	C	11: 58,420,027 (GRCm39)	T262A	probably benign	Het
Pbp2	T	C	6: 135,287,104 (GRCm39)	Y81C	probably benign	Het
Plekhh1	C	A	12: 79,115,862 (GRCm39)	Q802K	possibly damaging	Het
Pnldc1	A	T	17: 13,116,165 (GRCm39)	F279Y	probably damaging	Het
Psmb5	A	T	14: 54,855,261 (GRCm39)	L63Q	probably damaging	Het
Rasa3	C	T	8: 13,636,873 (GRCm39)		probably null	Het
Rbm4b	G	A	19: 4,812,219 (GRCm39)	M209I	probably benign	Het
Rnf38	A	G	4: 44,131,615 (GRCm39)	S421P	probably benign	Het
Sema5a	T	C	15: 32,562,703 (GRCm39)	V238A	probably damaging	Het
Sesn1	G	T	10: 41,779,771 (GRCm39)	G402W	probably damaging	Het
Six4	A	G	12: 73,159,180 (GRCm39)	V260A	probably benign	Het
Srrm2	G	A	17: 24,038,831 (GRCm39)	R1825Q	unknown	Het
Stat1	G	A	1: 52,178,353 (GRCm39)	W262*	probably null	Het
Tcf20	A	T	15: 82,739,158 (GRCm39)	D764E	probably damaging	Het
Tgm2	T	C	2: 157,962,065 (GRCm39)	N585D	probably benign	Het
Tmf1	A	T	6: 97,133,821 (GRCm39)	L1039H	probably damaging	Het
Ttc39b	A	G	4: 83,171,247 (GRCm39)	I202T	probably damaging	Het
Vmn1r30	A	G	6: 58,412,460 (GRCm39)	F124S	probably benign	Het
Vwa7	T	A	17: 35,236,133 (GRCm39)	F29Y	probably damaging	Het
Wdr64	A	T	1: 175,559,079 (GRCm39)	M281L	probably benign	Het
Zfand2a	C	T	5: 139,467,753 (GRCm39)	V40M	possibly damaging	Het
Zfp865	G	C	7: 5,034,819 (GRCm39)	A935P	probably damaging	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
R0079:Trak2	UTSW	1	58,965,883 (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
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

PCR Primer
(F):5'- CTCAGTCATAAGCATGGCAACG -3'
(R):5'- CTTCTTAGATGTCTGCTCCAACGAG -3'

Sequencing Primer
(F):5'- AACAGCTGTAATCTCTCCTGTCAGG -3'
(R):5'- AGGATCTCCCTGAAGTCGAG -3'

Posted On

2021-03-08