Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Pacs1'

402471

Institutional Source

Beutler Lab

Gene Symbol

Pacs1

Ensembl Gene

ENSMUSG00000024855

Gene Name

phosphofurin acidic cluster sorting protein 1

Synonyms

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5133688-5273119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5145141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 472 (V472I)

Ref Sequence

ENSEMBL: ENSMUSP00000025786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025786]

AlphaFold

Q8K212

Predicted Effect

probably benign
Transcript: ENSMUST00000025786
AA Change: V472I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: V472I

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
low complexity region	27	46	N/A	INTRINSIC
low complexity region	51	97	N/A	INTRINSIC
low complexity region	276	290	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC
Pfam:Pacs-1	546	958	2e-193	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452 (GRCm38)	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941 (GRCm38)		probably null	Het
Acvr1b	T	A	15: 101,193,976 (GRCm38)	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919 (GRCm38)	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334 (GRCm38)	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195 (GRCm38)	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984 (GRCm38)	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789 (GRCm38)	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463 (GRCm38)		probably null	Het
Ep400	A	G	5: 110,668,630 (GRCm38)	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729 (GRCm38)		probably null	Het
Gad1-ps	G	A	10: 99,445,147 (GRCm38)		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438 (GRCm38)	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021 (GRCm38)	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205 (GRCm38)	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671 (GRCm38)		probably null	Het
Hspg2	T	C	4: 137,543,914 (GRCm38)	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812 (GRCm38)	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223 (GRCm38)	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170 (GRCm38)	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422 (GRCm38)	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827 (GRCm38)	W569*	probably null	Het
Klra4	T	A	6: 130,062,147 (GRCm38)	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613 (GRCm38)	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644 (GRCm38)	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397 (GRCm38)	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053 (GRCm38)	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271 (GRCm38)	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000 (GRCm38)	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326 (GRCm38)	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334 (GRCm38)	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708 (GRCm38)	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026 (GRCm38)	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296 (GRCm38)	V83A	probably benign	Het
Pard3b	T	C	1: 62,344,113 (GRCm38)	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791 (GRCm38)	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272 (GRCm38)	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796 (GRCm38)	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949 (GRCm38)	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955 (GRCm38)	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907 (GRCm38)	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845 (GRCm38)	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148 (GRCm38)	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593 (GRCm38)	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862 (GRCm38)	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690 (GRCm38)	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996 (GRCm38)	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149 (GRCm38)	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630 (GRCm38)	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166 (GRCm38)		probably null	Het
Slamf9	T	C	1: 172,476,232 (GRCm38)	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032 (GRCm38)	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366 (GRCm38)	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530 (GRCm38)	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795 (GRCm38)	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324 (GRCm38)	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242 (GRCm38)	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422 (GRCm38)	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042 (GRCm38)	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078 (GRCm38)	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590 (GRCm38)	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411 (GRCm38)	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156 (GRCm38)	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932 (GRCm38)		probably null	Het
Vmn2r66	T	C	7: 85,007,885 (GRCm38)	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686 (GRCm38)	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403 (GRCm38)	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179 (GRCm38)	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063 (GRCm38)	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514 (GRCm38)	I978V	probably benign	Het

Other mutations in Pacs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pacs1	APN	19	5,153,698 (GRCm38)	missense	probably damaging	0.98
IGL01335:Pacs1	APN	19	5,142,632 (GRCm38)	missense	probably damaging	1.00
IGL01717:Pacs1	APN	19	5,167,972 (GRCm38)	missense	probably damaging	1.00
IGL02453:Pacs1	APN	19	5,135,005 (GRCm38)	missense	probably damaging	1.00
IGL02887:Pacs1	APN	19	5,135,110 (GRCm38)	splice site	probably benign
Batavian	UTSW	19	5,156,413 (GRCm38)	missense	possibly damaging	0.71
chicory	UTSW	19	5,139,297 (GRCm38)	missense	probably benign	0.33
endive	UTSW	19	5,272,583 (GRCm38)	nonsense	probably null
Escarole	UTSW	19	5,156,356 (GRCm38)	critical splice donor site	probably null
frisee	UTSW	19	5,136,791 (GRCm38)	missense	probably damaging	1.00
R0240:Pacs1	UTSW	19	5,156,374 (GRCm38)	missense	possibly damaging	0.69
R0240:Pacs1	UTSW	19	5,156,374 (GRCm38)	missense	possibly damaging	0.69
R0316:Pacs1	UTSW	19	5,135,121 (GRCm38)	splice site	silent
R0369:Pacs1	UTSW	19	5,141,698 (GRCm38)	missense	probably damaging	1.00
R0443:Pacs1	UTSW	19	5,272,583 (GRCm38)	nonsense	probably null
R0973:Pacs1	UTSW	19	5,143,829 (GRCm38)	missense	probably damaging	1.00
R0973:Pacs1	UTSW	19	5,143,829 (GRCm38)	missense	probably damaging	1.00
R0974:Pacs1	UTSW	19	5,143,829 (GRCm38)	missense	probably damaging	1.00
R1202:Pacs1	UTSW	19	5,135,237 (GRCm38)	missense	probably damaging	1.00
R1672:Pacs1	UTSW	19	5,152,309 (GRCm38)	missense	probably benign	0.00
R1689:Pacs1	UTSW	19	5,272,615 (GRCm38)	unclassified	probably benign
R1842:Pacs1	UTSW	19	5,155,884 (GRCm38)	missense	probably damaging	0.96
R1847:Pacs1	UTSW	19	5,153,714 (GRCm38)	missense	probably damaging	0.99
R3884:Pacs1	UTSW	19	5,155,759 (GRCm38)	missense	probably damaging	0.99
R4577:Pacs1	UTSW	19	5,143,833 (GRCm38)	nonsense	probably null
R4630:Pacs1	UTSW	19	5,156,356 (GRCm38)	critical splice donor site	probably null
R5029:Pacs1	UTSW	19	5,142,271 (GRCm38)	missense	probably benign	0.03
R5198:Pacs1	UTSW	19	5,139,297 (GRCm38)	missense	probably benign	0.33
R5464:Pacs1	UTSW	19	5,147,207 (GRCm38)	missense	probably benign
R5695:Pacs1	UTSW	19	5,136,791 (GRCm38)	missense	probably damaging	1.00
R6128:Pacs1	UTSW	19	5,152,372 (GRCm38)	splice site	probably null
R6335:Pacs1	UTSW	19	5,159,977 (GRCm38)	missense	probably damaging	1.00
R6802:Pacs1	UTSW	19	5,152,784 (GRCm38)	missense	probably damaging	0.99
R6831:Pacs1	UTSW	19	5,160,795 (GRCm38)	missense	probably damaging	1.00
R7071:Pacs1	UTSW	19	5,156,374 (GRCm38)	missense	possibly damaging	0.69
R7200:Pacs1	UTSW	19	5,156,413 (GRCm38)	missense	possibly damaging	0.71
R7248:Pacs1	UTSW	19	5,138,975 (GRCm38)	missense	probably damaging	1.00
R7576:Pacs1	UTSW	19	5,145,120 (GRCm38)	missense	probably benign	0.09
R7682:Pacs1	UTSW	19	5,152,699 (GRCm38)	missense	probably damaging	0.99
R7715:Pacs1	UTSW	19	5,141,681 (GRCm38)	missense	probably benign	0.01
R7738:Pacs1	UTSW	19	5,152,350 (GRCm38)	missense	probably benign	0.11
R8339:Pacs1	UTSW	19	5,142,623 (GRCm38)	missense	probably damaging	1.00
R8930:Pacs1	UTSW	19	5,135,002 (GRCm38)	missense	probably damaging	1.00
R8932:Pacs1	UTSW	19	5,135,002 (GRCm38)	missense	probably damaging	1.00
R9043:Pacs1	UTSW	19	5,138,936 (GRCm38)	missense	probably benign	0.23
R9211:Pacs1	UTSW	19	5,139,029 (GRCm38)	missense	probably damaging	0.99
R9459:Pacs1	UTSW	19	5,145,070 (GRCm38)	critical splice donor site	probably null
R9584:Pacs1	UTSW	19	5,272,594 (GRCm38)	missense	probably benign
R9608:Pacs1	UTSW	19	5,143,834 (GRCm38)	missense	probably damaging	1.00
R9732:Pacs1	UTSW	19	5,134,969 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCAATAGCCATTTCAACCC -3'
(R):5'- TAGGCAAAGCTCTGACGCAG -3'

Sequencing Primer
(F):5'- GGTCAATAGCCATTTCAACCCCAAAG -3'
(R):5'- ATGGGAGCACATGGCATCCAG -3'

Posted On

2016-07-22