Mutagenetix > Incidental Mutations

Incidental Mutation 'R7682:Pacs1'

592850

Institutional Source

Beutler Lab

Gene Symbol

Pacs1

Ensembl Gene

ENSMUSG00000024855

Gene Name

phosphofurin acidic cluster sorting protein 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7682 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5133688-5273119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5152699 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 385 (E385G)

Ref Sequence

ENSEMBL: ENSMUSP00000025786 (fasta)

Gene Model

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

AlphaFold

Q8K212

Predicted Effect

probably damaging
Transcript: ENSMUST00000025786
AA Change: E385G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: E385G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	A	16: 88,759,485	S196T	probably benign	Het
Abcc5	T	C	16: 20,368,053	D977G	probably damaging	Het
Acot2	T	C	12: 83,987,924	V8A	probably benign	Het
Adamts9	T	A	6: 92,880,698	I870F	possibly damaging	Het
Adgrl3	G	A	5: 81,794,560	V1414I	probably damaging	Het
Aggf1	T	C	13: 95,368,426	K275R	probably benign	Het
Alpk1	T	C	3: 127,672,546	I1104V	possibly damaging	Het
Angptl7	A	T	4: 148,498,082	I119N	probably damaging	Het
Ank3	A	T	10: 69,988,235	E129D	possibly damaging	Het
Brca2	T	A	5: 150,543,153	H2127Q	probably benign	Het
Brd4	A	G	17: 32,201,160	F1008S	unknown	Het
Car2	T	C	3: 14,887,965	S56P	probably damaging	Het
Casp3	A	G	8: 46,632,385	Y41C	probably benign	Het
Ces4a	A	T	8: 105,146,665	T381S	probably benign	Het
Clstn1	A	G	4: 149,626,101	T77A	possibly damaging	Het
Cul7	G	T	17: 46,655,595	V615L	probably benign	Het
Dnpep	A	G	1: 75,316,740	F24L	probably damaging	Het
Emsy	G	A	7: 98,590,698	R1263W	probably damaging	Het
Fam124b	A	T	1: 80,213,565	C34S	possibly damaging	Het
Fan1	C	A	7: 64,372,764	G247V	probably benign	Het
Glipr1l3	T	G	10: 112,141,872	H218P	probably benign	Het
Gm11639	T	A	11: 104,964,348		probably null	Het
Gm13084	A	G	4: 143,810,720	L347S	probably benign	Het
Gm14305	T	A	2: 176,720,910	S198R	probably benign	Het
Gm14326	T	C	2: 177,948,481	Y29C	probably damaging	Het
Gm45713	C	T	7: 45,134,002	V147I	probably benign	Het
Gpr149	C	T	3: 62,530,739	D666N	probably damaging	Het
Gpr183	A	G	14: 121,954,740	I123T	possibly damaging	Het
Il7r	A	T	15: 9,512,927	H165Q	probably damaging	Het
Krt73	A	G	15: 101,802,045	F85L	probably benign	Het
Lrrc29	C	A	8: 105,315,284	R304L	possibly damaging	Het
Lrrc8d	A	G	5: 105,812,791	T356A	probably damaging	Het
Marco	A	G	1: 120,494,042		probably null	Het
Mettl14	T	A	3: 123,383,604	E49D	possibly damaging	Het
Mrap	T	A	16: 90,749,222		probably null	Het
Mrps34	C	T	17: 24,895,878	A152V	probably benign	Het
Nfasc	T	A	1: 132,573,773	Y1163F	unknown	Het
Nfic	T	C	10: 81,420,500	D110G	probably damaging	Het
Nip7	T	C	8: 107,057,119	V28A	possibly damaging	Het
Odam	T	C	5: 87,892,428	F251S	possibly damaging	Het
Olfm5	T	A	7: 104,161,772	Q53L	probably null	Het
P2ry13	T	G	3: 59,210,124	M78L	probably benign	Het
Pip5k1b	C	T	19: 24,359,979	G315D	probably damaging	Het
Pla2g4a	C	A	1: 149,886,271	R145L	probably damaging	Het
Rars	T	C	11: 35,828,752	Q81R	probably benign	Het
Rassf7	A	G	7: 141,217,934	N296D	probably damaging	Het
Rcsd1	C	T	1: 165,657,693	A94T	probably benign	Het
Rgs8	T	C	1: 153,690,922	F73S	probably damaging	Het
Rilpl2	A	C	5: 124,477,980	Y36D	probably damaging	Het
Rpl10l	A	G	12: 66,284,230	V43A	probably benign	Het
Sesn2	T	C	4: 132,496,889	I403V	probably damaging	Het
Slc10a4	C	T	5: 73,007,110	S15L	unknown	Het
Slc7a5	T	C	8: 121,907,140	Y156C	probably damaging	Het
Spata18	A	G	5: 73,668,665	H105R		Het
Specc1l	A	G	10: 75,245,802	D344G	probably damaging	Het
Syne1	A	G	10: 5,162,461	V415A	probably benign	Het
Thbs4	T	G	13: 92,775,562	D220A	probably benign	Het
Tmco5	T	C	2: 116,886,271	S152P	probably benign	Het
Tmem35b	A	T	4: 127,128,941	D125V	probably damaging	Het
Trim17	A	G	11: 58,966,808	E155G	possibly damaging	Het
Vmn2r11	A	C	5: 109,047,615	V615G	probably benign	Het
Vmn2r88	A	T	14: 51,418,449	Q705L		Het
Vmn2r93	A	G	17: 18,305,321	R414G	probably benign	Het
Xirp2	T	C	2: 67,508,849	L478P	probably damaging	Het

Other mutations in Pacs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pacs1	APN	19	5153698	missense	probably damaging	0.98
IGL01335:Pacs1	APN	19	5142632	missense	probably damaging	1.00
IGL01717:Pacs1	APN	19	5167972	missense	probably damaging	1.00
IGL02453:Pacs1	APN	19	5135005	missense	probably damaging	1.00
IGL02887:Pacs1	APN	19	5135110	splice site	probably benign
Batavian	UTSW	19	5156413	missense	possibly damaging	0.71
chicory	UTSW	19	5139297	missense	probably benign	0.33
endive	UTSW	19	5272583	nonsense	probably null
Escarole	UTSW	19	5156356	critical splice donor site	probably null
frisee	UTSW	19	5136791	missense	probably damaging	1.00
R0240:Pacs1	UTSW	19	5156374	missense	possibly damaging	0.69
R0240:Pacs1	UTSW	19	5156374	missense	possibly damaging	0.69
R0316:Pacs1	UTSW	19	5135121	splice site	silent
R0369:Pacs1	UTSW	19	5141698	missense	probably damaging	1.00
R0443:Pacs1	UTSW	19	5272583	nonsense	probably null
R0973:Pacs1	UTSW	19	5143829	missense	probably damaging	1.00
R0973:Pacs1	UTSW	19	5143829	missense	probably damaging	1.00
R0974:Pacs1	UTSW	19	5143829	missense	probably damaging	1.00
R1202:Pacs1	UTSW	19	5135237	missense	probably damaging	1.00
R1672:Pacs1	UTSW	19	5152309	missense	probably benign	0.00
R1689:Pacs1	UTSW	19	5272615	unclassified	probably benign
R1842:Pacs1	UTSW	19	5155884	missense	probably damaging	0.96
R1847:Pacs1	UTSW	19	5153714	missense	probably damaging	0.99
R3884:Pacs1	UTSW	19	5155759	missense	probably damaging	0.99
R4577:Pacs1	UTSW	19	5143833	nonsense	probably null
R4630:Pacs1	UTSW	19	5156356	critical splice donor site	probably null
R5029:Pacs1	UTSW	19	5142271	missense	probably benign	0.03
R5198:Pacs1	UTSW	19	5139297	missense	probably benign	0.33
R5223:Pacs1	UTSW	19	5145141	missense	probably benign	0.00
R5464:Pacs1	UTSW	19	5147207	missense	probably benign
R5695:Pacs1	UTSW	19	5136791	missense	probably damaging	1.00
R6128:Pacs1	UTSW	19	5152372	splice site	probably null
R6335:Pacs1	UTSW	19	5159977	missense	probably damaging	1.00
R6802:Pacs1	UTSW	19	5152784	missense	probably damaging	0.99
R6831:Pacs1	UTSW	19	5160795	missense	probably damaging	1.00
R7071:Pacs1	UTSW	19	5156374	missense	possibly damaging	0.69
R7200:Pacs1	UTSW	19	5156413	missense	possibly damaging	0.71
R7248:Pacs1	UTSW	19	5138975	missense	probably damaging	1.00
R7576:Pacs1	UTSW	19	5145120	missense	probably benign	0.09
R7715:Pacs1	UTSW	19	5141681	missense	probably benign	0.01
R7738:Pacs1	UTSW	19	5152350	missense	probably benign	0.11
R8339:Pacs1	UTSW	19	5142623	missense	probably damaging	1.00
R8930:Pacs1	UTSW	19	5135002	missense	probably damaging	1.00
R8932:Pacs1	UTSW	19	5135002	missense	probably damaging	1.00
R9043:Pacs1	UTSW	19	5138936	missense	probably benign	0.23
R9211:Pacs1	UTSW	19	5139029	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACGGAGTTGGTCAAGGGATC -3'
(R):5'- GGAGACAGGACTTGCTCATC -3'

Sequencing Primer
(F):5'- GATCTGCAGAGATTCCTATCAGG -3'
(R):5'- GGACTTGCTCATCTAACCACAAGTG -3'

Posted On

2019-11-12