Mutagenetix > Incidental Mutation

Incidental Mutation 'R8224:Pacs2'

636903

Institutional Source

Beutler Lab

Gene Symbol

Pacs2

Ensembl Gene

ENSMUSG00000021143

Gene Name

phosphofurin acidic cluster sorting protein 2

Synonyms

6720425G15Rik, Pacs1l

MMRRC Submission

067660-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112978128-113038021 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113023380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 333 (T333A)

Ref Sequence

ENSEMBL: ENSMUSP00000081953 (fasta)

Gene Model

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

AlphaFold

Q3V3Q7

Predicted Effect

probably damaging
Transcript: ENSMUST00000084891
AA Change: T333A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000081953
Gene: ENSMUSG00000021143
AA Change: T333A

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.3%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,249 (GRCm39)	E45V	probably damaging	Het
Adamts9	A	T	6: 92,773,351 (GRCm39)	V1754D	probably damaging	Het
Ankrd26	G	A	6: 118,502,716 (GRCm39)	T818M	probably damaging	Het
Card11	T	C	5: 140,888,632 (GRCm39)	E242G	possibly damaging	Het
Cdh20	G	T	1: 109,921,933 (GRCm39)	L8F	probably benign	Het
Cenpa	T	C	5: 30,830,699 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,781,800 (GRCm39)	V11A	probably benign	Het
Chfr	T	A	5: 110,308,109 (GRCm39)		probably null	Het
Col14a1	A	T	15: 55,271,137 (GRCm39)	Y630F	unknown	Het
Cst5	A	G	2: 149,251,902 (GRCm39)	N126D	possibly damaging	Het
Cubn	T	C	2: 13,354,688 (GRCm39)	T1903A	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Gon4l	A	G	3: 88,802,449 (GRCm39)	E1020G	probably damaging	Het
Gp1ba	A	G	11: 70,530,683 (GRCm39)	N150D	unknown	Het
Gstm2	T	C	3: 107,891,314 (GRCm39)	I169V	probably benign	Het
Ighv1-75	A	T	12: 115,797,859 (GRCm39)	V21D	probably benign	Het
Il7	T	C	3: 7,642,308 (GRCm39)	M51V	possibly damaging	Het
Insm2	A	T	12: 55,646,763 (GRCm39)	D169V	probably damaging	Het
Jmjd1c	A	G	10: 67,080,628 (GRCm39)	D373G	noncoding transcript	Het
Kif16b	T	C	2: 142,676,008 (GRCm39)	N431D	probably benign	Het
Kmt2a	A	C	9: 44,719,326 (GRCm39)	I3925S	unknown	Het
Lgi4	G	A	7: 30,763,017 (GRCm39)	C164Y	probably damaging	Het
Lrfn5	A	T	12: 61,890,192 (GRCm39)	I494F	possibly damaging	Het
Map9	T	C	3: 82,266,370 (GRCm39)	I5T	probably benign	Het
Ncf2	T	C	1: 152,706,144 (GRCm39)	V252A	possibly damaging	Het
Nlrp4g	A	T	9: 124,353,374 (GRCm38)	I573F	noncoding transcript	Het
Nrn1	G	A	13: 36,918,258 (GRCm39)	L3F	probably damaging	Het
Or1ab2	A	G	8: 72,864,223 (GRCm39)	D271G	noncoding transcript	Het
Or2d2	T	A	7: 106,728,079 (GRCm39)	I174F	probably damaging	Het
Or5h24	A	T	16: 58,919,117 (GRCm39)	D79E	unknown	Het
Or6c8	A	G	10: 128,915,304 (GRCm39)	F176S	possibly damaging	Het
Otop1	C	A	5: 38,457,846 (GRCm39)	T535K	possibly damaging	Het
Pax3	T	C	1: 78,098,327 (GRCm39)	Y354C	probably damaging	Het
Phlpp1	T	C	1: 106,320,348 (GRCm39)	S1448P	probably damaging	Het
Pias4	C	A	10: 81,003,565 (GRCm39)		probably benign	Het
Ppp1r12b	T	C	1: 134,830,200 (GRCm39)	N113S	probably benign	Het
Ptpn12	G	T	5: 21,203,656 (GRCm39)	P374Q	probably damaging	Het
Reg4	A	T	3: 98,132,011 (GRCm39)		probably benign	Het
Sh3bp5	T	C	14: 31,099,473 (GRCm39)	D256G	probably damaging	Het
Slc25a32	C	G	15: 38,976,015 (GRCm39)		probably benign	Het
Tnip2	C	T	5: 34,671,003 (GRCm39)	R80Q	possibly damaging	Het
Uroc1	A	G	6: 90,321,049 (GRCm39)		probably null	Het
Washc2	A	C	6: 116,218,457 (GRCm39)	K634T	probably damaging	Het
Xpot	A	T	10: 121,443,513 (GRCm39)	Y405N	probably damaging	Het
Yes1	T	C	5: 32,816,417 (GRCm39)	Y365H	probably benign	Het
Zfp607a	A	T	7: 27,577,536 (GRCm39)	E202V	probably damaging	Het
Zfp932	T	C	5: 110,144,480 (GRCm39)		probably benign	Het
Zfp947	A	C	17: 22,364,363 (GRCm39)	M437R	probably benign	Het
Zscan10	A	G	17: 23,828,366 (GRCm39)	T303A	probably benign	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
R2162:Pacs2	UTSW	12	113,014,567 (GRCm39)	missense	probably benign
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
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'- AGCAGGCATTTAGTTACACAGTTC -3'
(R):5'- GAAGATGCACCTGCTACTGG -3'

Sequencing Primer
(F):5'- AGTTACACAGTTCTTCCTCACTG -3'
(R):5'- GCAGAACCCTGAGCCCAG -3'

Posted On

2020-07-13