Mutagenetix > Incidental Mutation

Incidental Mutation 'R8930:Pacs1'

680284

Institutional Source

Beutler Lab

Gene Symbol

Pacs1

Ensembl Gene

ENSMUSG00000024855

Gene Name

phosphofurin acidic cluster sorting protein 1

Synonyms

MMRRC Submission

068774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5133688-5273119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5135002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 932 (S932C)

Ref Sequence

ENSEMBL: ENSMUSP00000025786 (fasta)

Gene Model

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

AlphaFold

Q8K212

Predicted Effect

probably damaging
Transcript: ENSMUST00000025786
AA Change: S932C

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

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: S932C

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	T	13: 59,742,201	E184K	possibly damaging	Het
4921524L21Rik	T	C	18: 6,629,693		probably null	Het
Abl2	A	G	1: 156,633,832	T435A	probably damaging	Het
Adamtsl3	C	T	7: 82,611,861	P29S		Het
Ankrd11	C	T	8: 122,895,979	R378K	probably damaging	Het
Arap1	G	A	7: 101,408,117	R1355Q	possibly damaging	Het
Ass1	T	A	2: 31,492,375	M186K	probably damaging	Het
Bckdk	A	G	7: 127,908,010	D312G	probably benign	Het
Btg3	T	A	16: 78,373,410	N3I	probably benign	Het
C87414	T	G	5: 93,638,085	D112A	probably benign	Het
Cd163	T	C	6: 124,317,923	F649L	probably damaging	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 106,666,238		probably benign	Het
Cnksr3	A	T	10: 7,160,780	V27E	probably damaging	Het
Col12a1	A	T	9: 79,673,383	S1512T	probably benign	Het
Cstf1	A	G	2: 172,375,703	T79A	probably benign	Het
Defa24	T	C	8: 21,735,357	Y88H	probably benign	Het
Dgkz	C	T	2: 91,939,570	R389Q	probably damaging	Het
Dsg3	T	A	18: 20,539,661	D796E	probably damaging	Het
Dyrk3	G	T	1: 131,129,556	D293E	probably damaging	Het
Epb42	T	C	2: 121,024,286	D606G	probably benign	Het
Erich5	G	A	15: 34,453,698	G18S	probably benign	Het
Fam196a	A	G	7: 134,899,152	I408T	probably damaging	Het
Fam196b	T	C	11: 34,402,707	S250P	probably benign	Het
Fam8a1	C	T	13: 46,674,392	T352M	probably benign	Het
Fastkd3	T	A	13: 68,583,716	L52Q	probably benign	Het
Fat3	G	A	9: 15,999,523	H1728Y	probably benign	Het
Fgl1	A	G	8: 41,209,831	V39A	probably benign	Het
Gm7298	T	C	6: 121,765,071	V484A	probably benign	Het
Gpr75	A	G	11: 30,892,571	Q492R	possibly damaging	Het
Hoxc8	A	G	15: 102,990,886	H36R	possibly damaging	Het
Isy1	T	C	6: 87,821,531	I214V	probably damaging	Het
Kdm5b	C	T	1: 134,616,272	P853L	probably damaging	Het
Man2b1	A	G	8: 85,095,393	T746A	probably damaging	Het
Mast3	A	T	8: 70,781,733		probably benign	Het
Mki67	A	G	7: 135,698,899	S1469P	possibly damaging	Het
Mrps30	C	T	13: 118,387,159	A26T	probably benign	Het
Mup10	T	A	4: 60,580,709	T92S	possibly damaging	Het
Otud7a	A	G	7: 63,757,491	D514G	possibly damaging	Het
Pbx2	C	T	17: 34,594,589	R188C	probably damaging	Het
Pclo	C	T	5: 14,712,975	P536S	possibly damaging	Het
Pdxdc1	A	T	16: 13,854,405	I377N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phip	T	C	9: 82,906,988	K758E	possibly damaging	Het
Ptprm	C	T	17: 66,956,851	R467H	probably benign	Het
Scnn1b	C	T	7: 121,902,844	R242C	probably damaging	Het
Seh1l	T	C	18: 67,775,064	S19P	possibly damaging	Het
Slc28a1	T	A	7: 81,167,967	V528D	probably benign	Het
Slc6a17	G	T	3: 107,472,191	Q554K	probably benign	Het
Spag16	G	A	1: 70,299,769		probably null	Het
Srfbp1	T	A	18: 52,490,045	N377K	possibly damaging	Het
Stap2	A	G	17: 55,997,895	S296P	probably benign	Het
Tnr	A	T	1: 159,912,789	I1178F	probably damaging	Het
Tomt	C	T	7: 101,901,143	A139T	probably damaging	Het
Trak2	T	C	1: 58,935,808	Q75R	probably benign	Het
Tulp1	T	C	17: 28,364,494	K58E	probably benign	Het
Utp6	A	G	11: 79,943,229		probably null	Het
Vmn1r21	T	C	6: 57,844,013	T149A	probably benign	Het
Vmn1r238	C	T	18: 3,123,127	V96M	probably benign	Het
Vmn1r9	T	A	6: 57,071,681	I247N	probably damaging	Het
Vps33b	T	C	7: 80,282,493	C138R	possibly damaging	Het
Wnk1	A	T	6: 119,963,265	V837E	probably damaging	Het
Xirp2	C	T	2: 67,482,363	H59Y	possibly damaging	Het
Zbtb38	G	T	9: 96,686,381	D883E	probably benign	Het
Zbtb7a	C	A	10: 81,144,534	D187E	probably benign	Het
Zfp511	T	C	7: 140,037,529	V148A	probably damaging	Het
Zfp52	A	G	17: 21,560,430	D180G	possibly 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
R7682:Pacs1	UTSW	19	5152699	missense	probably damaging	0.99
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
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
R9459:Pacs1	UTSW	19	5145070	critical splice donor site	probably null
R9584:Pacs1	UTSW	19	5272594	missense	probably benign
R9608:Pacs1	UTSW	19	5143834	missense	probably damaging	1.00
R9732:Pacs1	UTSW	19	5134969	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTAGAGACAAGCCCCAGTG -3'
(R):5'- TAAGAGCCAGGTCATCGAGG -3'

Sequencing Primer
(F):5'- CCAGTGCTGGGAAAGGG -3'
(R):5'- CAGGTCATCGAGGGCATCAG -3'

Posted On

2021-08-31