Mutagenetix > Incidental Mutation

Incidental Mutation 'R0791:Jpt2'

82427

Institutional Source

Beutler Lab

Gene Symbol

Jpt2

Ensembl Gene

ENSMUSG00000024165

Gene Name

Jupiter microtubule associated homolog 2

Synonyms

Hn1l, D17Ertd441e, 2810430B18Rik

MMRRC Submission

038971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R0791 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25161444-25179597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25167647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 101 (A101S)

Ref Sequence

ENSEMBL: ENSMUSP00000024981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024981]

AlphaFold

Q6PGH2

Predicted Effect

probably benign
Transcript: ENSMUST00000024981
AA Change: A101S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0615

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,994,098 (GRCm39)	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,244,111 (GRCm39)	Y55H	probably damaging	Het
Armh3	A	T	19: 45,922,307 (GRCm39)		probably null	Het
Atp2b2	C	T	6: 113,750,349 (GRCm39)	R625H	probably damaging	Het
Bpifb2	T	C	2: 153,720,439 (GRCm39)	V66A	probably benign	Het
Ccdc33	T	C	9: 57,936,046 (GRCm39)	T950A	possibly damaging	Het
Ceacam19	A	T	7: 19,616,557 (GRCm39)		probably null	Het
Cenpn	T	A	8: 117,667,559 (GRCm39)		probably benign	Het
Ces1f	A	T	8: 93,998,517 (GRCm39)	Y160N	possibly damaging	Het
Clca3a1	A	C	3: 144,710,615 (GRCm39)	S863A	probably benign	Het
Cntrl	T	A	2: 35,045,291 (GRCm39)	I781K	possibly damaging	Het
Dock4	C	T	12: 40,754,480 (GRCm39)	R490W	probably damaging	Het
Evpl	T	A	11: 116,118,549 (GRCm39)	Q686L	probably damaging	Het
Fbxw10	A	G	11: 62,738,282 (GRCm39)	S59G	probably benign	Het
Glb1l2	A	G	9: 26,681,047 (GRCm39)	V218A	possibly damaging	Het
Gpatch1	A	T	7: 34,980,801 (GRCm39)		probably benign	Het
Grin2c	G	A	11: 115,141,472 (GRCm39)	P882L	probably damaging	Het
H2-Ob	C	A	17: 34,461,588 (GRCm39)	T109N	probably damaging	Het
Ipo8	A	G	6: 148,723,225 (GRCm39)	V64A	possibly damaging	Het
Lamc1	C	A	1: 153,110,326 (GRCm39)	Q1116H	possibly damaging	Het
Lamc1	T	C	1: 153,110,358 (GRCm39)	S1106G	probably benign	Het
Lamc1	T	G	1: 153,110,341 (GRCm39)	Q1111H	probably damaging	Het
Large1	A	G	8: 73,775,107 (GRCm39)		probably benign	Het
Lig4	A	T	8: 10,023,012 (GRCm39)	V256E	possibly damaging	Het
Mpz	C	A	1: 170,986,343 (GRCm39)	Q86K	possibly damaging	Het
Mrps24	A	G	11: 5,654,684 (GRCm39)	V90A	possibly damaging	Het
Mtdh	A	G	15: 34,116,528 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,547,367 (GRCm39)	V450A	probably benign	Het
Mycbpap	A	G	11: 94,402,449 (GRCm39)		probably null	Het
Myo6	T	A	9: 80,169,656 (GRCm39)		probably benign	Het
Myom1	A	T	17: 71,428,131 (GRCm39)	I1450F	probably damaging	Het
Nbas	T	A	12: 13,532,634 (GRCm39)	S1781T	probably benign	Het
Nedd1	T	C	10: 92,555,476 (GRCm39)	E3G	probably damaging	Het
Nt5c3	T	C	6: 56,863,734 (GRCm39)	T149A	probably benign	Het
Or5p56	A	G	7: 107,589,740 (GRCm39)	H56R	probably benign	Het
Osbp2	G	A	11: 3,661,882 (GRCm39)		probably benign	Het
Paip1	T	C	13: 119,566,854 (GRCm39)	S54P	possibly damaging	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Prdm14	G	T	1: 13,195,968 (GRCm39)	A31E	probably benign	Het
Ptpn14	C	T	1: 189,568,637 (GRCm39)		probably benign	Het
Rims2	A	G	15: 39,543,021 (GRCm39)		probably benign	Het
Rnf20	A	G	4: 49,638,197 (GRCm39)	N103S	possibly damaging	Het
Sema3g	T	A	14: 30,942,861 (GRCm39)		probably benign	Het
Slc30a6	T	C	17: 74,722,640 (GRCm39)	S236P	possibly damaging	Het
Slc5a1	T	C	5: 33,315,421 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,577,119 (GRCm39)	M1K	probably null	Het
Synpo2	A	G	3: 122,906,835 (GRCm39)	V827A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trak2	A	T	1: 58,942,820 (GRCm39)	M862K	probably benign	Het
Trim42	A	T	9: 97,247,732 (GRCm39)	H321Q	probably damaging	Het
Twnk	T	C	19: 44,998,693 (GRCm39)		probably benign	Het
Tymp	T	C	15: 89,259,021 (GRCm39)	K221R	probably damaging	Het
Uaca	C	A	9: 60,779,341 (GRCm39)	Q1243K	possibly damaging	Het
Vwa8	T	C	14: 79,232,016 (GRCm39)		probably benign	Het
Wnt4	C	T	4: 137,016,594 (GRCm39)	R83W	probably damaging	Het
Zfp820	T	C	17: 22,038,509 (GRCm39)	D273G	probably benign	Het
Zfp974	A	T	7: 27,609,510 (GRCm39)	Y738*	probably null	Het
Zkscan4	A	C	13: 21,668,081 (GRCm39)	E177D	probably benign	Het

Other mutations in Jpt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0792:Jpt2	UTSW	17	25,167,647 (GRCm39)	missense	probably benign	0.02
R1120:Jpt2	UTSW	17	25,179,585 (GRCm39)	start codon destroyed	probably null	0.71
R1239:Jpt2	UTSW	17	25,179,585 (GRCm39)	start codon destroyed	probably null	0.71
R1889:Jpt2	UTSW	17	25,179,585 (GRCm39)	start codon destroyed	probably null	0.71
R2066:Jpt2	UTSW	17	25,167,713 (GRCm39)	nonsense	probably null
R4089:Jpt2	UTSW	17	25,175,076 (GRCm39)	missense	probably benign	0.01
R8812:Jpt2	UTSW	17	25,179,578 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACTCCGACCAATGAGTGAGCAC -3'
(R):5'- AGCTGGGATATAAGGCTTCAGGGAC -3'

Sequencing Primer
(F):5'- AAGCAGCACAGTCTCTCTGTC -3'
(R):5'- CTATTGTCCTGGAACCTAAGAAGGC -3'

Posted On

2013-11-08