Mutagenetix > Incidental Mutation

Incidental Mutation 'R2162:Pacs2'

235223

Institutional Source

Beutler Lab

Gene Symbol

Pacs2

Ensembl Gene

ENSMUSG00000021143

Gene Name

phosphofurin acidic cluster sorting protein 2

Synonyms

6720425G15Rik, Pacs1l

MMRRC Submission

040165-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112978128-113038021 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113014567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 243 (T243A)

Ref Sequence

ENSEMBL: ENSMUSP00000152439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084891] [ENSMUST00000220541] [ENSMUST00000222406] [ENSMUST00000223502]

AlphaFold

Q3V3Q7

Predicted Effect

probably benign
Transcript: ENSMUST00000084891
AA Change: T243A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081953
Gene: ENSMUSG00000021143
AA Change: T243A

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	199	213	N/A	INTRINSIC
low complexity region	281	296	N/A	INTRINSIC
low complexity region	299	313	N/A	INTRINSIC
Pfam:Pacs-1	474	888	1.4e-208	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220541
AA Change: T213A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222406

Predicted Effect

probably benign
Transcript: ENSMUST00000223502
AA Change: T243A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0822

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (55/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased sensitivity to TRAIL-induced spleen apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	C	15: 94,229,339 (GRCm39)	C927G	probably damaging	Het
Afdn	T	A	17: 14,116,436 (GRCm39)	D190E	probably benign	Het
Ankrd28	T	C	14: 31,430,719 (GRCm39)	D850G	probably damaging	Het
Arhgap45	T	C	10: 79,852,813 (GRCm39)	M1T	probably null	Het
Atp6v0a4	T	G	6: 38,065,581 (GRCm39)	K128N	possibly damaging	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacna1i	T	C	15: 80,240,388 (GRCm39)	F370S	probably damaging	Het
Clca4b	T	C	3: 144,634,348 (GRCm39)	I82V	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Dnaaf5	T	C	5: 139,167,320 (GRCm39)	V447A	possibly damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Eng	C	T	2: 32,569,059 (GRCm39)	R528C	probably damaging	Het
Gcn1	A	T	5: 115,730,191 (GRCm39)	Q835L	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Hlx	T	A	1: 184,462,889 (GRCm39)		probably null	Het
Htt	T	A	5: 34,979,062 (GRCm39)	V815D	probably benign	Het
Il36rn	G	T	2: 24,169,692 (GRCm39)	L17F	probably damaging	Het
Itga1	C	T	13: 115,167,446 (GRCm39)	V157I	probably benign	Het
Krtap19-3	T	G	16: 88,674,607 (GRCm39)	*88C	probably null	Het
Lzic	G	C	4: 149,573,185 (GRCm39)	E112D	probably null	Het
Mark2	G	C	19: 7,260,112 (GRCm39)	S111C	probably damaging	Het
Mep1b	C	T	18: 21,219,296 (GRCm39)	T150I	possibly damaging	Het
Mroh7	G	C	4: 106,557,378 (GRCm39)	S777R	probably damaging	Het
Nrxn1	G	A	17: 90,469,859 (GRCm39)	R35C	probably damaging	Het
Or12e10	T	A	2: 87,640,704 (GRCm39)	I180K	probably damaging	Het
Or51v8	T	G	7: 103,320,079 (GRCm39)	Q53P	possibly damaging	Het
Or5p69	C	A	7: 107,966,769 (GRCm39)	P24Q	probably benign	Het
Pan2	A	G	10: 128,140,091 (GRCm39)	E4G	possibly damaging	Het
Pdp1	A	G	4: 11,961,123 (GRCm39)	V396A	probably damaging	Het
Pdzd7	A	G	19: 45,024,494 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,755,914 (GRCm39)		probably benign	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Ppp1r9b	T	C	11: 94,888,877 (GRCm39)	L97P	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scn9a	T	A	2: 66,364,573 (GRCm39)	Y789F	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Spata31g1	A	G	4: 42,972,238 (GRCm39)	T524A	possibly damaging	Het
Sptan1	T	C	2: 29,908,588 (GRCm39)		probably benign	Het
Srrd	G	T	5: 112,490,810 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,718,221 (GRCm39)	T201A	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Ttll4	A	G	1: 74,725,550 (GRCm39)	K653E	probably damaging	Het
Usp43	A	G	11: 67,770,795 (GRCm39)	L613P	probably damaging	Het
Vmn1r167	T	C	7: 23,204,224 (GRCm39)	D264G	possibly damaging	Het
Whamm	A	G	7: 81,221,089 (GRCm39)	D7G	probably damaging	Het
Zcchc17	T	C	4: 130,232,317 (GRCm39)	D62G	probably benign	Het
Zfp280d	T	A	9: 72,206,104 (GRCm39)	I62K	probably damaging	Het
Zfp445	T	G	9: 122,681,541 (GRCm39)	E800A	probably damaging	Het
Zfp516	A	G	18: 83,005,063 (GRCm39)	R656G	possibly damaging	Het

Other mutations in Pacs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01774:Pacs2	APN	12	113,020,462 (GRCm39)	missense	probably benign	0.01
IGL01830:Pacs2	APN	12	113,020,574 (GRCm39)	nonsense	probably null
IGL02229:Pacs2	APN	12	113,020,420 (GRCm39)	splice site	probably benign
IGL02307:Pacs2	APN	12	113,034,393 (GRCm39)	missense	probably damaging	1.00
IGL02700:Pacs2	APN	12	113,025,330 (GRCm39)	missense	probably damaging	1.00
BB003:Pacs2	UTSW	12	113,024,372 (GRCm39)	missense	probably damaging	1.00
BB013:Pacs2	UTSW	12	113,024,372 (GRCm39)	missense	probably damaging	1.00
R0241:Pacs2	UTSW	12	113,032,890 (GRCm39)	splice site	probably benign
R0433:Pacs2	UTSW	12	113,020,464 (GRCm39)	missense	possibly damaging	0.77
R0512:Pacs2	UTSW	12	113,014,547 (GRCm39)	missense	probably damaging	0.99
R0761:Pacs2	UTSW	12	113,023,688 (GRCm39)	splice site	probably benign
R2017:Pacs2	UTSW	12	113,026,077 (GRCm39)	missense	probably damaging	1.00
R2070:Pacs2	UTSW	12	113,024,731 (GRCm39)	missense	probably damaging	1.00
R2231:Pacs2	UTSW	12	113,026,987 (GRCm39)	missense	probably damaging	1.00
R2232:Pacs2	UTSW	12	113,026,987 (GRCm39)	missense	probably damaging	1.00
R2396:Pacs2	UTSW	12	113,026,987 (GRCm39)	missense	probably damaging	1.00
R2397:Pacs2	UTSW	12	113,026,987 (GRCm39)	missense	probably damaging	1.00
R3010:Pacs2	UTSW	12	113,024,700 (GRCm39)	missense	probably benign
R3403:Pacs2	UTSW	12	113,014,570 (GRCm39)	missense	probably damaging	1.00
R3950:Pacs2	UTSW	12	113,024,733 (GRCm39)	missense	probably damaging	1.00
R3952:Pacs2	UTSW	12	113,024,733 (GRCm39)	missense	probably damaging	1.00
R4518:Pacs2	UTSW	12	113,024,289 (GRCm39)	missense	probably benign	0.31
R5673:Pacs2	UTSW	12	113,032,618 (GRCm39)	missense	probably damaging	1.00
R5693:Pacs2	UTSW	12	113,013,526 (GRCm39)	missense	probably damaging	1.00
R7212:Pacs2	UTSW	12	113,025,312 (GRCm39)	missense	possibly damaging	0.77
R7926:Pacs2	UTSW	12	113,024,372 (GRCm39)	missense	probably damaging	1.00
R8032:Pacs2	UTSW	12	113,025,278 (GRCm39)	missense	probably damaging	1.00
R8224:Pacs2	UTSW	12	113,023,380 (GRCm39)	missense	probably damaging	1.00
R8944:Pacs2	UTSW	12	113,020,476 (GRCm39)	missense	probably damaging	1.00
R9036:Pacs2	UTSW	12	113,026,104 (GRCm39)	missense	possibly damaging	0.93
R9253:Pacs2	UTSW	12	113,014,137 (GRCm39)	missense	probably benign	0.00
R9461:Pacs2	UTSW	12	113,010,727 (GRCm39)	missense	probably benign	0.36
Z1177:Pacs2	UTSW	12	113,034,350 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCCTGGGCCTACAACATG -3'
(R):5'- AGACAGGATTCTGGACTCTGG -3'

Sequencing Primer
(F):5'- CCTGGGCCTACAACATGTTAGTAG -3'
(R):5'- CAGGATTCTGGACTCTGGGCAAG -3'

Posted On

2014-10-01