Mutagenetix > Incidental Mutation

Incidental Mutation 'R6053:Trak2'

484203

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

044221-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58939608-59012589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58943228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 726 (R726L)

Ref Sequence

ENSEMBL: ENSMUSP00000027186 (fasta)

Gene Model

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

AlphaFold

Q6P9N8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027186
AA Change: R726L

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027186
Gene: ENSMUSG00000026028
AA Change: R726L

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

noncoding transcript
Transcript: ENSMUST00000172685

Predicted Effect

probably benign
Transcript: ENSMUST00000174120

SMART Domains

Protein: ENSMUSP00000134253
Gene: ENSMUSG00000026028

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,964,666 (GRCm39)	Y2158H	probably damaging	Het
Acap1	T	G	11: 69,777,896 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,080,284 (GRCm39)	I279N	possibly damaging	Het
Akap3	A	G	6: 126,843,496 (GRCm39)	E705G	probably damaging	Het
Aoc1l3	A	G	6: 48,965,422 (GRCm39)	T477A	probably benign	Het
Arap3	C	A	18: 38,123,824 (GRCm39)	L398F	probably damaging	Het
Catsperg1	A	T	7: 28,910,239 (GRCm39)	L34*	probably null	Het
Ccdc171	T	G	4: 83,713,456 (GRCm39)	L1165R	probably damaging	Het
Ccdc3	G	A	2: 5,233,838 (GRCm39)	V221I	probably benign	Het
Cdc42ep4	T	A	11: 113,619,812 (GRCm39)	H193L	probably damaging	Het
Clcn1	G	A	6: 42,277,208 (GRCm39)	W361*	probably null	Het
Cntn2	T	C	1: 132,446,090 (GRCm39)	N832S	probably benign	Het
Col5a1	A	T	2: 27,904,389 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,217,945 (GRCm39)	D785G	probably benign	Het
Cspg4b	C	A	13: 113,457,260 (GRCm39)	P1102Q	possibly damaging	Het
Ctc1	T	A	11: 68,918,727 (GRCm39)	M550K	probably benign	Het
Dennd5a	T	C	7: 109,532,952 (GRCm39)	R273G	probably damaging	Het
Dnajb7	T	C	15: 81,291,500 (GRCm39)	E279G	probably benign	Het
Dop1a	G	T	9: 86,397,347 (GRCm39)	G882W	possibly damaging	Het
Dvl2	A	G	11: 69,896,819 (GRCm39)	R238G	possibly damaging	Het
Ect2l	A	T	10: 18,017,592 (GRCm39)	L629Q	probably damaging	Het
Enpp1	T	C	10: 24,533,024 (GRCm39)	D497G	possibly damaging	Het
Ep400	T	C	5: 110,903,661 (GRCm39)	M313V	probably benign	Het
Epn2	T	C	11: 61,437,323 (GRCm39)	Y83C	probably damaging	Het
Ercc3	T	G	18: 32,379,807 (GRCm39)	V338G	probably damaging	Het
Fkbp5	T	C	17: 28,647,440 (GRCm39)	I132V	probably benign	Het
Fn1	A	T	1: 71,638,449 (GRCm39)	Y1846N	probably damaging	Het
Foxg1	T	C	12: 49,432,161 (GRCm39)	L298P	possibly damaging	Het
Foxo3	G	A	10: 42,073,210 (GRCm39)	P436S	probably benign	Het
Gbx2	T	C	1: 89,858,159 (GRCm39)	T107A	probably benign	Het
Gli1	G	T	10: 127,170,184 (GRCm39)	H324N	probably damaging	Het
Gnas	T	A	2: 174,141,645 (GRCm39)	S605T	possibly damaging	Het
Ica1	C	T	6: 8,630,783 (GRCm39)	A431T	probably benign	Het
Il10ra	C	T	9: 45,167,601 (GRCm39)	D319N	probably damaging	Het
Jmjd4	T	A	11: 59,344,870 (GRCm39)	H274Q	probably damaging	Het
Krt28	C	A	11: 99,262,027 (GRCm39)	L294F	probably benign	Het
Ltbp3	C	A	19: 5,802,122 (GRCm39)	T766K	probably damaging	Het
Man2b2	C	A	5: 36,970,382 (GRCm39)	M841I	probably benign	Het
Mmp14	T	A	14: 54,673,347 (GRCm39)	M85K	probably benign	Het
Mmp1b	T	A	9: 7,385,031 (GRCm39)	D206V	probably benign	Het
Muc5b	T	C	7: 141,418,445 (GRCm39)	F3797S	probably benign	Het
Mug1	A	G	6: 121,842,697 (GRCm39)	D561G	probably benign	Het
Myo18a	T	A	11: 77,709,002 (GRCm39)	H471Q	probably damaging	Het
Nfkb2	A	G	19: 46,300,251 (GRCm39)	E873G	probably damaging	Het
Ngfr	G	A	11: 95,461,832 (GRCm39)	H361Y	possibly damaging	Het
Nnt	T	C	13: 119,494,045 (GRCm39)	T679A	possibly damaging	Het
Notch1	A	T	2: 26,362,924 (GRCm39)	N947K	probably benign	Het
Nrg4	A	T	9: 55,143,774 (GRCm39)	V94D	probably benign	Het
Nsd1	G	T	13: 55,441,422 (GRCm39)	C1631F	probably damaging	Het
Nutm1	T	C	2: 112,079,435 (GRCm39)	T827A	probably benign	Het
Or2t47	T	A	11: 58,442,892 (GRCm39)	M58L	possibly damaging	Het
Or4c114	T	C	2: 88,904,898 (GRCm39)	D179G	probably damaging	Het
Or5h19	A	T	16: 58,856,351 (GRCm39)	Y250N	probably damaging	Het
Or6p1	C	A	1: 174,258,135 (GRCm39)	S47*	probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Orai3	C	T	7: 127,373,050 (GRCm39)	P184S	probably benign	Het
Paqr3	A	T	5: 97,259,137 (GRCm39)	S56T	probably benign	Het
Pard6b	C	T	2: 167,940,973 (GRCm39)	T320M	possibly damaging	Het
Pgs1	T	C	11: 117,892,535 (GRCm39)	S166P	probably damaging	Het
Plaa	T	C	4: 94,478,121 (GRCm39)	T114A	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plin4	A	T	17: 56,415,618 (GRCm39)	D73E	probably benign	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Rbak	A	C	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Rgs12	T	C	5: 35,123,296 (GRCm39)	F360L	probably benign	Het
Rgs22	A	T	15: 36,100,153 (GRCm39)	D187E	probably benign	Het
Sec24d	C	T	3: 123,072,871 (GRCm39)	Q66*	probably null	Het
Sh2d5	T	A	4: 137,982,873 (GRCm39)	M85K	probably damaging	Het
Sos1	A	G	17: 80,722,463 (GRCm39)	V861A	possibly damaging	Het
Stk11ip	T	A	1: 75,510,899 (GRCm39)		probably null	Het
Tmem26	G	A	10: 68,584,314 (GRCm39)	E127K	probably benign	Het
Tmem41a	T	G	16: 21,753,739 (GRCm39)	T211P	possibly damaging	Het
Tmem69	T	A	4: 116,410,581 (GRCm39)	M130L	possibly damaging	Het
Vmn1r231	A	G	17: 21,110,081 (GRCm39)	I278T	probably damaging	Het
Vwf	G	A	6: 125,577,628 (GRCm39)	V490I	probably benign	Het
Wdr33	C	T	18: 32,011,116 (GRCm39)	T255I	possibly damaging	Het
Ylpm1	G	T	12: 85,043,277 (GRCm39)	W5L	possibly damaging	Het
Zfp169	A	T	13: 48,652,334 (GRCm39)	W28R	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
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

PCR Primer
(F):5'- TTCTCGGAGACATGCACTCG -3'
(R):5'- ATCCTTGAAACCTCCATGCCG -3'

Sequencing Primer
(F):5'- CATGCACTCGGGGTTCAAAG -3'
(R):5'- TCCATGCCGGCAGGTGTTC -3'

Posted On

2017-07-14