Mutagenetix > Incidental Mutation

Incidental Mutation 'R1922:Tor1aip2'

213115

Institutional Source

Beutler Lab

Gene Symbol

Tor1aip2

Ensembl Gene

ENSMUSG00000050565

Gene Name

torsin A interacting protein 2

Synonyms

15kDa, 1110020D10Rik, Ifrg15, LULL1

MMRRC Submission

039940-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R1922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155911410-155944607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 155940540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 282 (P282Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060404] [ENSMUST00000111757]

AlphaFold

Q8BYU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000060404
AA Change: P282Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050817
Gene: ENSMUSG00000050565
AA Change: P282Q

Domain	Start	End	E-Value	Type
Pfam:LAP1C	26	501	3.9e-222	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111757
AA Change: P282Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565
AA Change: P282Q

Domain	Start	End	E-Value	Type
Pfam:LAP1C	26	501	3.9e-169	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125371

Coding Region Coverage

1x: 97.5%
3x: 97.1%
10x: 95.8%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,359,083 (GRCm39)	N574K	probably benign	Het
Adcy9	A	T	16: 4,129,521 (GRCm39)	L455H	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Amy1	T	A	3: 113,358,544 (GRCm39)	I163F	probably damaging	Het
Aoc1l2	A	C	6: 48,908,220 (GRCm39)	I407L	probably benign	Het
Armc5	A	G	7: 127,839,677 (GRCm39)	S332G	probably benign	Het
Brd4	T	C	17: 32,417,060 (GRCm39)		probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,372,679 (GRCm39)	E458G	probably damaging	Het
Chrna1	A	G	2: 73,398,576 (GRCm39)	S288P	probably damaging	Het
Cpe	T	A	8: 65,070,723 (GRCm39)	D174V	probably benign	Het
Dclre1c	T	C	2: 3,441,819 (GRCm39)	F235L	possibly damaging	Het
Ddx20	A	T	3: 105,585,900 (GRCm39)	V815D	probably damaging	Het
Dhx9	T	C	1: 153,336,020 (GRCm39)		probably null	Het
Dmxl2	A	C	9: 54,308,807 (GRCm39)	H1981Q	probably benign	Het
Doc2a	A	C	7: 126,450,603 (GRCm39)	D293A	probably damaging	Het
Eif2a	C	T	3: 58,455,951 (GRCm39)	R317C	probably damaging	Het
Fancc	A	G	13: 63,478,381 (GRCm39)	V318A	possibly damaging	Het
Fes	A	T	7: 80,033,734 (GRCm39)	Y172*	probably null	Het
Gipc3	T	A	10: 81,174,049 (GRCm39)	I242F	probably damaging	Het
Glul	G	A	1: 153,783,070 (GRCm39)	M214I	probably benign	Het
Gm14496	A	G	2: 181,642,797 (GRCm39)	I823V	probably benign	Het
Gm6665	T	C	18: 31,953,318 (GRCm39)	N50S	probably benign	Het
Gm6729	T	C	10: 86,376,782 (GRCm39)		noncoding transcript	Het
Gpr21	T	A	2: 37,408,350 (GRCm39)	C299S	probably damaging	Het
Hapln2	T	A	3: 87,930,684 (GRCm39)	N196Y	probably benign	Het
Hsd17b12	A	G	2: 93,875,737 (GRCm39)	V196A	probably benign	Het
Kalrn	A	T	16: 34,212,463 (GRCm39)	D28E	probably benign	Het
Kansl1	A	T	11: 104,234,466 (GRCm39)	L680Q	probably damaging	Het
Kcna3	T	C	3: 106,945,251 (GRCm39)	S505P	possibly damaging	Het
Klra1	A	C	6: 130,349,828 (GRCm39)	N203K	probably benign	Het
L3mbtl2	T	A	15: 81,559,822 (GRCm39)	I236N	probably damaging	Het
Mcm3ap	C	A	10: 76,343,195 (GRCm39)	P1696T	probably damaging	Het
Mecom	T	C	3: 30,011,591 (GRCm39)	D647G	probably damaging	Het
Mn1	A	G	5: 111,566,612 (GRCm39)	D194G	probably damaging	Het
Muc5ac	A	G	7: 141,347,426 (GRCm39)	N407S	probably benign	Het
Mx2	C	T	16: 97,361,551 (GRCm39)	R584C	probably benign	Het
Myo1c	A	G	11: 75,559,055 (GRCm39)	R597G	probably benign	Het
Nav3	T	C	10: 109,541,467 (GRCm39)	D1932G	probably benign	Het
Nwd2	T	A	5: 63,951,585 (GRCm39)	D205E	probably benign	Het
Obi1	T	C	14: 104,716,622 (GRCm39)	K584E	probably benign	Het
Or7a37	T	A	10: 78,805,975 (GRCm39)	L164*	probably null	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Osmr	T	C	15: 6,873,848 (GRCm39)	E183G	possibly damaging	Het
Peak1	A	T	9: 56,113,971 (GRCm39)	W627R	probably damaging	Het
Pkd1	C	A	17: 24,814,131 (GRCm39)	P4167Q	probably damaging	Het
Plekhg4	T	A	8: 106,105,017 (GRCm39)	L560Q	probably damaging	Het
Prg4	C	T	1: 150,325,750 (GRCm39)	W1217*	probably null	Het
Prkdc	A	G	16: 15,532,130 (GRCm39)	I1465V	probably benign	Het
Pus1	A	G	5: 110,925,505 (GRCm39)	F105S	probably damaging	Het
Ranbp3l	T	C	15: 9,057,206 (GRCm39)	S154P	probably damaging	Het
Rhbdl1	C	T	17: 26,054,513 (GRCm39)	G211S	probably damaging	Het
Rrp36	C	T	17: 46,983,671 (GRCm39)	R47Q	possibly damaging	Het
Rtp1	T	A	16: 23,250,160 (GRCm39)	I175N	probably damaging	Het
Sash1	T	A	10: 8,603,672 (GRCm39)	N1127Y	possibly damaging	Het
Setbp1	C	T	18: 78,901,577 (GRCm39)	E697K	possibly damaging	Het
Slc27a3	A	T	3: 90,293,624 (GRCm39)	V587E	probably benign	Het
Slc38a2	A	G	15: 96,589,043 (GRCm39)	F454L	possibly damaging	Het
Sprn	A	T	7: 139,733,458 (GRCm39)		probably benign	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tbc1d1	A	G	5: 64,468,564 (GRCm39)	E732G	probably damaging	Het
Tnfaip3	A	G	10: 18,879,355 (GRCm39)	F671S	possibly damaging	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Ttll2	A	T	17: 7,619,789 (GRCm39)	F46Y	probably damaging	Het
Ttn	A	G	2: 76,564,494 (GRCm39)	S28548P	probably damaging	Het
Tubb5	T	C	17: 36,146,190 (GRCm39)	Y340C	probably benign	Het
Usp32	A	T	11: 84,897,830 (GRCm39)	C1170*	probably null	Het
Usp54	G	T	14: 20,610,972 (GRCm39)	H1281Q	probably benign	Het
Vgll4	C	T	6: 114,898,296 (GRCm39)	G22S	probably benign	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Zdhhc5	A	T	2: 84,523,771 (GRCm39)	F225Y	probably damaging	Het
Zfp652	A	G	11: 95,654,851 (GRCm39)	E418G	possibly damaging	Het

Other mutations in Tor1aip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01812:Tor1aip2	APN	1	155,935,285 (GRCm39)	missense	probably benign	0.05
IGL02175:Tor1aip2	APN	1	155,940,752 (GRCm39)	missense	probably damaging	0.96
IGL02328:Tor1aip2	APN	1	155,940,720 (GRCm39)	missense	probably damaging	0.98
R0143:Tor1aip2	UTSW	1	155,935,294 (GRCm39)	missense	probably benign	0.06
R1037:Tor1aip2	UTSW	1	155,941,082 (GRCm39)	missense	probably benign	0.00
R1146:Tor1aip2	UTSW	1	155,940,483 (GRCm39)	missense	possibly damaging	0.51
R1146:Tor1aip2	UTSW	1	155,940,483 (GRCm39)	missense	possibly damaging	0.51
R1694:Tor1aip2	UTSW	1	155,941,031 (GRCm39)	missense	probably benign
R1955:Tor1aip2	UTSW	1	155,927,588 (GRCm39)	intron	probably benign
R2131:Tor1aip2	UTSW	1	155,941,095 (GRCm39)	missense	probably damaging	0.97
R3758:Tor1aip2	UTSW	1	155,941,035 (GRCm39)	missense	probably damaging	0.98
R4243:Tor1aip2	UTSW	1	155,941,182 (GRCm39)	missense	probably damaging	0.98
R4583:Tor1aip2	UTSW	1	155,940,888 (GRCm39)	missense	probably benign	0.01
R4678:Tor1aip2	UTSW	1	155,940,780 (GRCm39)	missense	probably damaging	0.99
R5564:Tor1aip2	UTSW	1	155,939,307 (GRCm39)	unclassified	probably benign
R6316:Tor1aip2	UTSW	1	155,937,840 (GRCm39)	missense	probably damaging	0.99
R6713:Tor1aip2	UTSW	1	155,941,155 (GRCm39)	missense	probably damaging	0.99
R6892:Tor1aip2	UTSW	1	155,940,927 (GRCm39)	missense	possibly damaging	0.95
R7137:Tor1aip2	UTSW	1	155,927,722 (GRCm39)	missense	possibly damaging	0.82
R8137:Tor1aip2	UTSW	1	155,939,414 (GRCm39)	missense	possibly damaging	0.93
R9456:Tor1aip2	UTSW	1	155,937,525 (GRCm39)	missense	possibly damaging	0.59
Z1176:Tor1aip2	UTSW	1	155,927,935 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CAAAGGAACTGGGCATTGC -3'
(R):5'- CATGGTAGCTCAGGCACTTGAG -3'

Sequencing Primer
(F):5'- ACACTGGATAGGAAACTGCTTC -3'
(R):5'- TCAGGCACTTGAGGGTCTC -3'

Posted On

2014-07-14