Mutagenetix > Incidental Mutation

Incidental Mutation 'R6159:Psmc5'

489768

Institutional Source

Beutler Lab

Gene Symbol

Psmc5

Ensembl Gene

ENSMUSG00000020708

Gene Name

protease (prosome, macropain) 26S subunit, ATPase 5

Synonyms

mSUG1, Rpt6

MMRRC Submission

044306-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R6159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106147011-106153938 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106152088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 82 (K82E)

Ref Sequence

ENSEMBL: ENSMUSP00000138057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021049] [ENSMUST00000021052] [ENSMUST00000106843] [ENSMUST00000133131] [ENSMUST00000140255]

AlphaFold

P62196

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021049
AA Change: K82E

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021049
Gene: ENSMUSG00000020708
AA Change: K82E

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
AAA	182	321	6.96e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021052

SMART Domains

Protein: ENSMUSP00000021052
Gene: ENSMUSG00000078619

Domain	Start	End	E-Value	Type
low complexity region	5	42	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	122	131	N/A	INTRINSIC
Blast:KISc	136	287	2e-36	BLAST
SWIB	307	386	1.3e-21	SMART
Blast:MYSc	468	514	5e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106841

Predicted Effect

probably benign
Transcript: ENSMUST00000106843

SMART Domains

Protein: ENSMUSP00000102456
Gene: ENSMUSG00000078619

Domain	Start	End	E-Value	Type
low complexity region	75	84	N/A	INTRINSIC
Blast:KISc	89	240	1e-36	BLAST
SWIB	260	339	1.3e-21	SMART
Blast:MYSc	421	467	5e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132278

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133131
AA Change: K82E

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138057
Gene: ENSMUSG00000020708
AA Change: K82E

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
AAA	182	321	6.96e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174253

Predicted Effect

probably benign
Transcript: ENSMUST00000140255

SMART Domains

Protein: ENSMUSP00000133629
Gene: ENSMUSG00000078619

Domain	Start	End	E-Value	Type
SWIB	29	108	1.3e-21	SMART
Blast:MYSc	190	236	6e-12	BLAST

Meta Mutation Damage Score

0.0774

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.2%

Validation Efficiency

96% (54/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a phospho-mimetic allele exhibit absence of cocaine locomotor activity sensitization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	C	6: 29,908,457 (GRCm39)	N609T	possibly damaging	Het
Ankzf1	G	A	1: 75,170,888 (GRCm39)	C98Y	probably damaging	Het
Atg101	T	A	15: 101,188,519 (GRCm39)	M208K	possibly damaging	Het
Baiap2l2	A	G	15: 79,143,930 (GRCm39)	I388T	probably benign	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Chrnd	T	A	1: 87,118,812 (GRCm39)	D56E	probably benign	Het
Col28a1	A	T	6: 8,162,247 (GRCm39)		probably null	Het
Col4a1	G	T	8: 11,270,007 (GRCm39)	P899Q	probably damaging	Het
Cts3	C	A	13: 61,714,655 (GRCm39)	A217S	probably damaging	Het
Dab2	A	G	15: 6,465,941 (GRCm39)	N495S	possibly damaging	Het
Dnah2	T	A	11: 69,349,368 (GRCm39)	I2423F	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock6	T	C	9: 21,733,041 (GRCm39)	H1053R	probably benign	Het
Eif1ad14	G	A	12: 87,886,521 (GRCm39)	A36V	probably damaging	Het
Fam184a	G	A	10: 53,574,869 (GRCm39)	L191F	probably damaging	Het
Fbxl9	T	C	8: 106,049,925 (GRCm39)	Y33C	probably damaging	Het
Fip1l1	C	T	5: 74,752,608 (GRCm39)	R472W	probably damaging	Het
Gbp2	T	C	3: 142,338,018 (GRCm39)	F378S	probably damaging	Het
Ggt1	A	T	10: 75,420,799 (GRCm39)	E388V	probably damaging	Het
Gm14496	A	G	2: 181,638,050 (GRCm39)	T375A	probably benign	Het
Gm43302	A	G	5: 105,436,894 (GRCm39)	S71P	probably benign	Het
Gnrhr	G	T	5: 86,330,216 (GRCm39)	T268K	probably damaging	Het
Htt	T	C	5: 34,962,020 (GRCm39)	V335A	probably benign	Het
Klhl20	A	T	1: 160,933,037 (GRCm39)	L257H	probably damaging	Het
Med27	C	A	2: 29,414,376 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,369,323 (GRCm39)	C2433S	possibly damaging	Het
Nasp	A	G	4: 116,461,086 (GRCm39)		probably null	Het
Nipal2	A	C	15: 34,600,172 (GRCm39)	V215G	probably damaging	Het
Or10al5	A	T	17: 38,063,038 (GRCm39)	I98F	probably damaging	Het
Or9i1b	C	T	19: 13,897,104 (GRCm39)	T240I	probably damaging	Het
Oxct2b	G	A	4: 123,011,244 (GRCm39)	R388H	probably damaging	Het
Pbrm1	A	G	14: 30,774,240 (GRCm39)	I469V	possibly damaging	Het
Phyhip	A	G	14: 70,704,294 (GRCm39)	H171R	possibly damaging	Het
Pigs	C	T	11: 78,219,326 (GRCm39)	T9M	probably benign	Het
Plek	T	C	11: 16,935,539 (GRCm39)	D256G	probably damaging	Het
Prss50	T	C	9: 110,693,371 (GRCm39)	V369A	probably benign	Het
Qrsl1	A	T	10: 43,758,189 (GRCm39)	F301L	probably benign	Het
Rasal1	T	C	5: 120,797,673 (GRCm39)	L135P	probably damaging	Het
Rbm47	A	G	5: 66,184,159 (GRCm39)	V148A	probably damaging	Het
Scyl1	T	A	19: 5,814,785 (GRCm39)	D381V	probably benign	Het
Selplg	G	T	5: 113,957,162 (GRCm39)	D381E	probably benign	Het
Sh3rf2	C	A	18: 42,289,200 (GRCm39)	Q674K	probably damaging	Het
Sned1	A	G	1: 93,210,659 (GRCm39)	T987A	probably benign	Het
Sntb1	A	G	15: 55,539,698 (GRCm39)		probably null	Het
Synj2	A	T	17: 6,036,327 (GRCm39)	I14F	probably damaging	Het
Taf2	A	T	15: 54,926,440 (GRCm39)	M170K	possibly damaging	Het
Tg	A	G	15: 66,607,096 (GRCm39)	E211G	possibly damaging	Het
Thnsl1	G	T	2: 21,217,016 (GRCm39)	E257*	probably null	Het
Tlr4	A	G	4: 66,758,070 (GRCm39)	R288G	possibly damaging	Het
Trbc1	T	C	6: 41,515,385 (GRCm39)		probably benign	Het
Trim37	G	A	11: 87,107,374 (GRCm39)		probably null	Het
Txnrd3	T	C	6: 89,640,176 (GRCm39)		probably null	Het
Tyk2	C	A	9: 21,021,800 (GRCm39)	Q875H	probably damaging	Het
Vmn2r55	A	G	7: 12,385,698 (GRCm39)	Y761H	probably damaging	Het
Zswim5	T	C	4: 116,836,876 (GRCm39)	L720P	probably damaging	Het

Other mutations in Psmc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02234:Psmc5	APN	11	106,153,836 (GRCm39)	missense	probably benign	0.21
IGL02508:Psmc5	APN	11	106,153,869 (GRCm39)	missense	possibly damaging	0.54
Chomp	UTSW	11	106,152,746 (GRCm39)	nonsense	probably null
R0398:Psmc5	UTSW	11	106,152,370 (GRCm39)	missense	probably benign	0.01
R0529:Psmc5	UTSW	11	106,151,990 (GRCm39)	splice site	probably null
R1642:Psmc5	UTSW	11	106,153,242 (GRCm39)	missense	probably benign	0.16
R5353:Psmc5	UTSW	11	106,152,327 (GRCm39)	missense	probably damaging	0.98
R7647:Psmc5	UTSW	11	106,152,433 (GRCm39)	missense	possibly damaging	0.58
R7802:Psmc5	UTSW	11	106,152,538 (GRCm39)	critical splice donor site	probably null
R8757:Psmc5	UTSW	11	106,153,687 (GRCm39)	missense	probably benign	0.40
R8759:Psmc5	UTSW	11	106,153,687 (GRCm39)	missense	probably benign	0.40
R8783:Psmc5	UTSW	11	106,153,858 (GRCm39)	missense	possibly damaging	0.94
R8872:Psmc5	UTSW	11	106,152,746 (GRCm39)	nonsense	probably null
R8992:Psmc5	UTSW	11	106,152,787 (GRCm39)	missense	probably damaging	1.00
R9427:Psmc5	UTSW	11	106,153,303 (GRCm39)	missense	probably damaging	1.00
X0027:Psmc5	UTSW	11	106,153,418 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TGCTGGAAGCCCTTTTCAAG -3'
(R):5'- GGGCGTCACATCGTTGATATC -3'

Sequencing Primer
(F):5'- GCTGGAAGCCCTTTTCAAGTCTTAAG -3'
(R):5'- CAAATTTGCCCTCAGGATGG -3'

Posted On

2017-10-10