Mutagenetix > Incidental Mutation

Incidental Mutation 'R8007:Pacrg'

616711

Institutional Source

Beutler Lab

Gene Symbol

Pacrg

Ensembl Gene

ENSMUSG00000037196

Gene Name

PARK2 co-regulated

Synonyms

1700008H23Rik

MMRRC Submission

046047-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10621938-11059078 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 11058919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041463] [ENSMUST00000191124]

AlphaFold

Q9DAK2

PDB Structure

NMR structure of ubiquitin-like domain in murine Parkin [SOLUTION NMR]
Crystal structure of ubiquitin-like domain of murine Parkin [X-RAY DIFFRACTION]
Crystal Structure of parkin ubiquitin-like domain R33Q mutant [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000041463

SMART Domains

Protein: ENSMUSP00000044376
Gene: ENSMUSG00000037196

Domain	Start	End	E-Value	Type
Pfam:ParcG	54	237	6.5e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191124

SMART Domains

Protein: ENSMUSP00000140587
Gene: ENSMUSG00000023826

Domain	Start	End	E-Value	Type
UBQ	1	72	3.58e-15	SMART
Blast:UBQ	203	230	2e-6	BLAST
Blast:RING	237	295	7e-11	BLAST
IBR	312	376	1.2e-14	SMART
IBR	400	456	5.16e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Along with altered levele of the Qki transcript, both Pacrg and Park2 are inactivated as a result of a 1.85 Mb deletion in the in the quaking mouse. The quaking mouse is a spontaneous dysmyelinating mutant that demonstrates abnormal locomotion, tremor, and tonic-clonic seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,647,845 (GRCm39)		probably benign	Het
A430033K04Rik	T	C	5: 138,644,901 (GRCm39)	I262T	probably benign	Het
Acacb	A	G	5: 114,356,935 (GRCm39)	R1289G	probably damaging	Het
Adgre4	A	T	17: 56,121,233 (GRCm39)	H433L	probably damaging	Het
Adgrv1	A	G	13: 81,431,585 (GRCm39)	F5948L	probably benign	Het
Adtrp	A	T	13: 41,969,707 (GRCm39)	D97E	probably damaging	Het
Anapc5	T	C	5: 122,929,963 (GRCm39)	T543A	probably benign	Het
Ank2	G	C	3: 126,730,096 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,289,405 (GRCm39)	A813V	probably benign	Het
Cc2d2a	T	A	5: 43,863,442 (GRCm39)	Y684N	possibly damaging	Het
Cenpf	G	A	1: 189,379,144 (GRCm39)	P35L		Het
Chtf18	A	G	17: 25,944,508 (GRCm39)	F281L	probably damaging	Het
Clstn1	T	C	4: 149,716,305 (GRCm39)	V257A	probably damaging	Het
Cnmd	A	T	14: 79,875,406 (GRCm39)	V338E	probably damaging	Het
Col6a3	A	C	1: 90,705,179 (GRCm39)	F2848V	unknown	Het
Corin	T	C	5: 72,473,446 (GRCm39)	S888G	probably damaging	Het
Ctss	A	T	3: 95,457,465 (GRCm39)	S309C	probably null	Het
Dmxl2	G	A	9: 54,290,975 (GRCm39)	Q2492*	probably null	Het
Exoc7	C	T	11: 116,197,465 (GRCm39)	R12Q	possibly damaging	Het
F12	A	G	13: 55,566,265 (GRCm39)	I509T	probably damaging	Het
F13b	A	G	1: 139,434,680 (GRCm39)	K149E	probably benign	Het
Fasn	A	G	11: 120,700,353 (GRCm39)	I2159T	probably benign	Het
Fgfr2	A	T	7: 129,765,719 (GRCm39)	Y831*	probably null	Het
Foxp1	A	T	6: 98,918,595 (GRCm39)	S514R	unknown	Het
Gm11569	A	G	11: 99,689,688 (GRCm39)	S4P	unknown	Het
Gria4	T	C	9: 4,503,740 (GRCm39)		probably benign	Het
Hnrnpul2	T	A	19: 8,798,179 (GRCm39)		probably null	Het
Ibtk	A	T	9: 85,572,770 (GRCm39)	D1257E	probably benign	Het
Ip6k2	T	C	9: 108,682,955 (GRCm39)	V355A	probably benign	Het
Kcnd2	G	A	6: 21,217,073 (GRCm39)	R259H	probably damaging	Het
Kcnj2	A	C	11: 110,963,884 (GRCm39)	E425D	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lgi2	C	A	5: 52,723,375 (GRCm39)	A25S	probably benign	Het
Lrp2	T	C	2: 69,336,849 (GRCm39)	T1308A	probably benign	Het
Ly6g2	A	G	15: 75,088,552 (GRCm39)	T7A	probably benign	Het
Matn2	A	T	15: 34,426,315 (GRCm39)	N609I	probably benign	Het
Mocs2	T	A	13: 114,957,409 (GRCm39)	S9T	possibly damaging	Het
Nebl	T	A	2: 17,375,300 (GRCm39)	I102F		Het
Nudt19	A	G	7: 35,255,045 (GRCm39)	V62A	probably benign	Het
Or10u4	T	A	10: 129,801,744 (GRCm39)	D269V	possibly damaging	Het
Or12k8	T	A	2: 36,974,855 (GRCm39)	R302W	probably damaging	Het
Or4a68	C	T	2: 89,270,684 (GRCm39)			Het
Or4k42	A	T	2: 111,320,068 (GRCm39)	V145E	probably damaging	Het
Pappa2	A	G	1: 158,609,874 (GRCm39)	I1529T	probably damaging	Het
Pcdhga7	A	T	18: 37,849,946 (GRCm39)	H651L	probably benign	Het
Plch2	A	G	4: 155,087,288 (GRCm39)	L321P	probably damaging	Het
Ppargc1b	A	T	18: 61,443,565 (GRCm39)	S549T	possibly damaging	Het
Rtel1	T	A	2: 180,976,767 (GRCm39)	N254K	probably damaging	Het
Rtl1	T	C	12: 109,558,060 (GRCm39)	N1260D	possibly damaging	Het
Samd7	T	A	3: 30,812,531 (GRCm39)	W324R	probably damaging	Het
Serpinb9e	A	G	13: 33,435,605 (GRCm39)	I13V	probably benign	Het
Skint10	A	G	4: 112,568,865 (GRCm39)	L284S	possibly damaging	Het
Slc25a38	T	A	9: 119,951,208 (GRCm39)	I247K	possibly damaging	Het
Smarce1	G	C	11: 99,115,876 (GRCm39)	N48K	possibly damaging	Het
Stmn4	T	G	14: 66,593,032 (GRCm39)		probably benign	Het
Stt3a	G	C	9: 36,653,065 (GRCm39)	T539R	probably damaging	Het
Tab1	G	A	15: 80,042,969 (GRCm39)	V388I	possibly damaging	Het
Tcf12	G	C	9: 71,841,905 (GRCm39)		probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Trp53inp1	T	C	4: 11,164,525 (GRCm39)	F23S	probably damaging	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Yae1d1	G	A	13: 18,164,329 (GRCm39)	S96L	probably damaging	Het
Zfp142	T	C	1: 74,610,655 (GRCm39)	I1047V	probably benign	Het

Other mutations in Pacrg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03102:Pacrg	APN	17	11,058,719 (GRCm39)	missense	probably benign
IGL03171:Pacrg	APN	17	10,795,462 (GRCm39)	missense	possibly damaging	0.50
R0373:Pacrg	UTSW	17	10,622,347 (GRCm39)	missense	probably damaging	1.00
R0471:Pacrg	UTSW	17	10,795,407 (GRCm39)	missense	possibly damaging	0.74
R1166:Pacrg	UTSW	17	10,622,268 (GRCm39)	nonsense	probably null
R1606:Pacrg	UTSW	17	11,058,725 (GRCm39)	nonsense	probably null
R8026:Pacrg	UTSW	17	10,795,496 (GRCm39)	missense	probably benign	0.03
R8352:Pacrg	UTSW	17	10,795,523 (GRCm39)	nonsense	probably null
R8452:Pacrg	UTSW	17	10,795,523 (GRCm39)	nonsense	probably null
R9409:Pacrg	UTSW	17	10,996,065 (GRCm39)	missense	probably damaging	0.98
X0021:Pacrg	UTSW	17	10,816,101 (GRCm39)	missense	probably benign	0.34
Z1177:Pacrg	UTSW	17	11,058,700 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCAGTTTAGTCCTCTTCGGC -3'
(R):5'- TCGCTGGTAACCTTTTCCGG -3'

Sequencing Primer
(F):5'- CGGCATCTTGTCTGGGC -3'
(R):5'- AAACGCTCGTCACGGAG -3'

Posted On

2020-01-23