Mutagenetix > Incidental Mutation

Incidental Mutation 'R5908:Tor2a'

460763

Institutional Source

Beutler Lab

Gene Symbol

Tor2a

Ensembl Gene

ENSMUSG00000009563

Gene Name

torsin family 2, member A

Synonyms

MMRRC Submission

044105-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.441) question?

Stock #

R5908 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

32647289-32652256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32651697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 304 (L304P)

Ref Sequence

ENSEMBL: ENSMUSP00000009707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009707] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000125891] [ENSMUST00000177382] [ENSMUST00000161089] [ENSMUST00000156617] [ENSMUST00000175763] [ENSMUST00000161430] [ENSMUST00000161950]

AlphaFold

Q8R1J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000009707
AA Change: L304P

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

SMART Domains

Protein: ENSMUSP00000009707
Gene: ENSMUSG00000009563
AA Change: L304P

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Torsin	35	160	1.2e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066478

SMART Domains

Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091059

SMART Domains

Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	75	108	2.26e-3	SMART
TPR	109	142	4.09e-1	SMART
TPR	150	183	8.3e-2	SMART
TPR	218	251	4.44e1	SMART
TPR	265	298	3.69e1	SMART
TPR	299	332	1.08e1	SMART
Blast:TPR	345	378	2e-10	BLAST
TPR	379	412	1.02e-1	SMART
TPR	420	453	7.27e0	SMART
Blast:TPR	454	487	2e-12	BLAST
low complexity region	631	644	N/A	INTRINSIC
low complexity region	666	679	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123624

Predicted Effect

probably benign
Transcript: ENSMUST00000125891

Predicted Effect

probably benign
Transcript: ENSMUST00000140999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149987

Predicted Effect

probably benign
Transcript: ENSMUST00000177382

SMART Domains

Protein: ENSMUSP00000134968
Gene: ENSMUSG00000009563

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Torsin	35	101	1.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161089

SMART Domains

Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156617

SMART Domains

Protein: ENSMUSP00000122251
Gene: ENSMUSG00000009563

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175763

SMART Domains

Protein: ENSMUSP00000135701
Gene: ENSMUSG00000009563

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161430

SMART Domains

Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	75	108	2.26e-3	SMART
TPR	109	142	4.09e-1	SMART
TPR	150	183	8.3e-2	SMART
TPR	218	251	4.44e1	SMART
TPR	265	298	3.69e1	SMART
TPR	299	332	1.08e1	SMART
Blast:TPR	345	378	2e-10	BLAST
TPR	379	412	1.02e-1	SMART
TPR	420	453	7.27e0	SMART
Blast:TPR	454	487	2e-12	BLAST
low complexity region	596	611	N/A	INTRINSIC
low complexity region	622	634	N/A	INTRINSIC
low complexity region	686	697	N/A	INTRINSIC
low complexity region	782	807	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161950

SMART Domains

Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Meta Mutation Damage Score

0.7917

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.8%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,624,730 (GRCm39)	L198H	probably damaging	Het
Anks1	C	T	17: 28,214,993 (GRCm39)	T480I	probably damaging	Het
Arhgef18	G	A	8: 3,503,165 (GRCm39)	R857Q	probably damaging	Het
B230208B08Rik	A	G	4: 78,132,297 (GRCm39)		noncoding transcript	Het
B9d2	T	A	7: 25,382,724 (GRCm39)	W33R	probably damaging	Het
Bcl2a1c	A	G	9: 114,159,572 (GRCm39)	T117A	probably benign	Het
Btbd8	T	G	5: 107,655,460 (GRCm39)	D574E	probably damaging	Het
Cabin1	A	G	10: 75,557,366 (GRCm39)	S1091P	probably damaging	Het
Clip3	C	A	7: 29,996,298 (GRCm39)	D64E	probably damaging	Het
Col6a5	C	G	9: 105,740,000 (GRCm39)	D2540H	possibly damaging	Het
Commd5	A	T	15: 76,785,136 (GRCm39)	M178L	probably benign	Het
Crtc3	T	A	7: 80,245,542 (GRCm39)	H361L	possibly damaging	Het
Dip2b	T	A	15: 100,049,065 (GRCm39)	L153Q	possibly damaging	Het
Eif2s1	T	A	12: 78,926,817 (GRCm39)	V189D	probably damaging	Het
Etl4	C	T	2: 20,748,718 (GRCm39)	A483V	probably damaging	Het
Foxo3	T	C	10: 42,072,583 (GRCm39)	I645V	probably benign	Het
Gm4841	A	G	18: 60,403,506 (GRCm39)	S196P	possibly damaging	Het
Hip1	A	G	5: 135,453,717 (GRCm39)		probably null	Het
Il36rn	G	T	2: 24,167,502 (GRCm39)		probably benign	Het
Ints2	A	G	11: 86,106,371 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,124,523 (GRCm39)	D259G	probably benign	Het
Lyst	T	A	13: 13,871,346 (GRCm39)	Y2694*	probably null	Het
Map4k2	T	C	19: 6,401,346 (GRCm39)		probably benign	Het
Marchf10	C	T	11: 105,281,065 (GRCm39)	V407I	probably benign	Het
Mast4	C	A	13: 102,874,764 (GRCm39)	V1367F	probably damaging	Het
Mrgprb3	A	T	7: 48,293,366 (GRCm39)	S62T	probably damaging	Het
Mthfd1l	T	C	10: 4,039,392 (GRCm39)	F801S	probably damaging	Het
Nhsl3	A	G	4: 129,115,941 (GRCm39)	S908P	probably damaging	Het
Notch2	T	C	3: 98,031,239 (GRCm39)		probably benign	Het
Nr2e1	T	C	10: 42,448,765 (GRCm39)	S158G	probably benign	Het
Nup214	A	G	2: 31,881,353 (GRCm39)	I404V	probably benign	Het
Or13n4	T	C	7: 106,423,404 (GRCm39)	T110A	probably benign	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pik3r3	A	T	4: 116,129,955 (GRCm39)	D213V	probably benign	Het
Pip5k1b	A	T	19: 24,374,501 (GRCm39)	S27T	possibly damaging	Het
Pkp1	G	A	1: 135,846,621 (GRCm39)	Q44*	probably null	Het
Pnma8b	C	T	7: 16,680,968 (GRCm39)	R651C	unknown	Het
Pnpt1	T	A	11: 29,080,887 (GRCm39)	S44T	probably benign	Het
Polb	A	T	8: 23,132,319 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,165,984 (GRCm39)	N85S	probably damaging	Het
Prim1	A	G	10: 127,853,893 (GRCm39)	K104E	probably damaging	Het
Prl8a1	T	A	13: 27,758,040 (GRCm39)	Y223F	probably benign	Het
Rbak	T	G	5: 143,159,391 (GRCm39)	H554P	probably damaging	Het
Serpina3c	T	C	12: 104,117,970 (GRCm39)	R123G	probably benign	Het
Sh3bp4	T	G	1: 89,073,605 (GRCm39)	S818A	probably damaging	Het
Sh3rf3	C	G	10: 58,885,270 (GRCm39)	H384Q	probably benign	Het
Slc9a8	C	T	2: 167,293,090 (GRCm39)		probably benign	Het
Sptbn4	T	C	7: 27,103,678 (GRCm39)	E1181G	probably benign	Het
Taf2	G	A	15: 54,935,402 (GRCm39)		probably benign	Het
Taf7l2	A	T	10: 115,949,133 (GRCm39)	I131N	probably benign	Het
Tbc1d9	A	T	8: 83,976,174 (GRCm39)	M578L	probably benign	Het
Tinagl1	G	T	4: 130,066,763 (GRCm39)	Y111*	probably null	Het
Trp53bp1	A	G	2: 121,067,304 (GRCm39)	V474A	probably benign	Het
Trrap	C	A	5: 144,723,518 (GRCm39)	A325E	probably damaging	Het
Ube4a	A	G	9: 44,859,322 (GRCm39)		probably null	Het
Use1	G	C	8: 71,822,257 (GRCm39)	K239N	probably damaging	Het
Vps9d1	G	T	8: 123,973,563 (GRCm39)	Q407K	probably benign	Het
Zfp36l1	A	T	12: 80,156,449 (GRCm39)	S311T	possibly damaging	Het
Zfp729b	T	C	13: 67,739,374 (GRCm39)	K964E	probably benign	Het
Zfp974	T	A	7: 27,610,382 (GRCm39)	M448L	probably benign	Het
Zfyve28	A	T	5: 34,374,214 (GRCm39)	V600E	possibly damaging	Het

Other mutations in Tor2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Tor2a	APN	2	32,649,558 (GRCm39)	missense	probably damaging	0.99
IGL01551:Tor2a	APN	2	32,650,595 (GRCm39)	intron	probably benign
IGL02995:Tor2a	APN	2	32,651,509 (GRCm39)	missense	possibly damaging	0.83
IGL03001:Tor2a	APN	2	32,647,329 (GRCm39)	missense	possibly damaging	0.66
IGL03229:Tor2a	APN	2	32,649,704 (GRCm39)	missense	probably damaging	0.96
R0234:Tor2a	UTSW	2	32,648,716 (GRCm39)	missense	probably damaging	1.00
R0234:Tor2a	UTSW	2	32,648,716 (GRCm39)	missense	probably damaging	1.00
R1964:Tor2a	UTSW	2	32,648,716 (GRCm39)	missense	probably damaging	1.00
R4370:Tor2a	UTSW	2	32,648,870 (GRCm39)	missense	probably benign
R4837:Tor2a	UTSW	2	32,650,609 (GRCm39)	missense	probably damaging	1.00
R5539:Tor2a	UTSW	2	32,650,672 (GRCm39)	missense	probably damaging	1.00
R5851:Tor2a	UTSW	2	32,651,619 (GRCm39)	missense	probably benign	0.01
R8393:Tor2a	UTSW	2	32,651,648 (GRCm39)	missense	probably benign	0.01
R8903:Tor2a	UTSW	2	32,651,699 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATGCTCACCATGGCCTC -3'
(R):5'- TTAACATTGTGCTCTGGGTCC -3'

Sequencing Primer
(F):5'- TGTGCCTCCCTGCAGATG -3'
(R):5'- TGGGTCCCACTTGCCAAC -3'

Posted On

2017-02-28