Mutagenetix > Incidental Mutation

Incidental Mutation 'R8190:Pabpc2'

635119

Institutional Source

Beutler Lab

Gene Symbol

Pabpc2

Ensembl Gene

ENSMUSG00000051732

Gene Name

poly(A) binding protein, cytoplasmic 2

Synonyms

Pabp2

MMRRC Submission

067613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R8190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39906550-39909135 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39908520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 595 (R595Q)

Ref Sequence

ENSEMBL: ENSMUSP00000066639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063219]

AlphaFold

Q62029

Predicted Effect

probably benign
Transcript: ENSMUST00000063219
AA Change: R595Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: R595Q

Domain	Start	End	E-Value	Type
RRM	12	85	1.64e-19	SMART
RRM	100	171	7.57e-24	SMART
RRM	192	264	5.23e-27	SMART
RRM	295	366	3.53e-24	SMART
low complexity region	398	413	N/A	INTRINSIC
low complexity region	490	500	N/A	INTRINSIC
PolyA	546	609	1.69e-27	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,706,030 (GRCm39)	V113A	possibly damaging	Het
Adcy7	A	G	8: 89,037,666 (GRCm39)	M245V	possibly damaging	Het
Adgra1	G	T	7: 139,456,034 (GRCm39)	R554L	probably benign	Het
Agfg2	T	A	5: 137,653,664 (GRCm39)	M351L	probably benign	Het
Ahnak	G	A	19: 8,979,619 (GRCm39)	G301D	probably benign	Het
Ambra1	C	T	2: 91,602,697 (GRCm39)	A227V	possibly damaging	Het
Ankrd24	T	A	10: 81,474,152 (GRCm39)	D166E	unknown	Het
Anks1	C	T	17: 28,205,778 (GRCm39)	P341S	probably benign	Het
Ano4	C	T	10: 88,808,607 (GRCm39)	D766N	probably benign	Het
Apol7e	A	T	15: 77,602,007 (GRCm39)	T202S	possibly damaging	Het
Arhgap44	C	A	11: 64,929,479 (GRCm39)	C275F	probably damaging	Het
Arl6ip4	A	C	5: 124,255,095 (GRCm39)	K95T	probably damaging	Het
Bbs9	T	C	9: 22,590,284 (GRCm39)	L674P	probably damaging	Het
Bmp4	T	A	14: 46,621,972 (GRCm39)	M191L	probably benign	Het
Celsr1	A	G	15: 85,787,090 (GRCm39)	L2753P	probably damaging	Het
Cerkl	T	A	2: 79,163,901 (GRCm39)	H473L	probably benign	Het
Cfap99	A	T	5: 34,482,502 (GRCm39)	T538S	possibly damaging	Het
Clock	A	T	5: 76,375,051 (GRCm39)	V706E	probably damaging	Het
Cpne6	T	C	14: 55,749,485 (GRCm39)	M15T	probably benign	Het
Deaf1	T	C	7: 140,894,324 (GRCm39)	D351G	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Eif3j1	A	T	2: 121,877,969 (GRCm39)	D119V	probably damaging	Het
Eps8l1	C	A	7: 4,474,297 (GRCm39)	S195Y	probably benign	Het
Exosc5	T	C	7: 25,365,769 (GRCm39)		probably null	Het
Fabp2	A	T	3: 122,690,419 (GRCm39)	H34L	probably benign	Het
Fbln5	T	A	12: 101,723,555 (GRCm39)	Q382L	probably damaging	Het
Fbxo34	C	A	14: 47,767,879 (GRCm39)	T464K	possibly damaging	Het
Fndc8	T	G	11: 82,788,686 (GRCm39)	V172G	probably damaging	Het
Frs2	C	T	10: 116,910,784 (GRCm39)	V193I	possibly damaging	Het
Gadd45a	A	G	6: 67,013,813 (GRCm39)	I44T	possibly damaging	Het
Gprin3	A	G	6: 59,331,456 (GRCm39)	S284P	possibly damaging	Het
Gsta4	T	C	9: 78,105,654 (GRCm39)	V28A	possibly damaging	Het
Herc1	T	A	9: 66,325,733 (GRCm39)	D1402E	probably benign	Het
Hipk2	A	T	6: 38,795,728 (GRCm39)	S180R	possibly damaging	Het
Hrg	A	T	16: 22,779,793 (GRCm39)	H357L	unknown	Het
Htr4	A	G	18: 62,570,971 (GRCm39)	Q342R	possibly damaging	Het
Impa1	A	G	3: 10,386,688 (GRCm39)	S184P	possibly damaging	Het
Iqgap3	A	T	3: 87,998,086 (GRCm39)	Q281L	probably damaging	Het
Kcnh8	C	T	17: 53,263,936 (GRCm39)	P811L	probably damaging	Het
Lpin1	T	C	12: 16,599,003 (GRCm39)	I628V		Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mfn1	A	T	3: 32,622,538 (GRCm39)	I599F	possibly damaging	Het
Nalcn	T	A	14: 123,837,351 (GRCm39)	R4S	possibly damaging	Het
Nbeal2	C	T	9: 110,455,158 (GRCm39)	R2580Q	probably benign	Het
Nlrp4b	A	G	7: 10,448,319 (GRCm39)	N174S	probably damaging	Het
Or3a4	T	A	11: 73,945,305 (GRCm39)	R93S	probably benign	Het
Or4q3	A	T	14: 50,583,179 (GRCm39)	V240D	probably damaging	Het
Or52a5	A	T	7: 103,426,802 (GRCm39)	V250D	probably damaging	Het
Or5p63	A	G	7: 107,811,014 (GRCm39)	F241L	possibly damaging	Het
Pak6	C	T	2: 118,520,578 (GRCm39)	Q190*	probably null	Het
Pds5a	A	T	5: 65,781,341 (GRCm39)	H1046Q	probably damaging	Het
Plin1	A	G	7: 79,373,028 (GRCm39)	S314P	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptpra	G	A	2: 30,328,351 (GRCm39)	S224N	probably damaging	Het
Rbp1	T	G	9: 98,326,709 (GRCm39)	W107G	probably damaging	Het
Rgs7bp	T	C	13: 105,189,617 (GRCm39)	N61D	probably damaging	Het
Slc1a6	A	G	10: 78,627,067 (GRCm39)	T135A	probably damaging	Het
Smarcc1	T	A	9: 110,031,602 (GRCm39)	D783E	probably benign	Het
Sufu	G	T	19: 46,389,636 (GRCm39)	E86*	probably null	Het
Synm	A	T	7: 67,383,654 (GRCm39)	M1336K	probably benign	Het
Tgm1	C	T	14: 55,942,341 (GRCm39)	G670D	probably damaging	Het
Tmc8	T	G	11: 117,682,186 (GRCm39)		probably null	Het
Togaram1	T	C	12: 65,053,686 (GRCm39)	V1322A	probably damaging	Het
Uxs1	A	T	1: 43,810,911 (GRCm39)	I225K	possibly damaging	Het
Vil1	G	T	1: 74,474,052 (GRCm39)	E796*	probably null	Het
Vmn1r174	T	C	7: 23,453,568 (GRCm39)	F78S	probably damaging	Het
Vps13d	T	A	4: 144,879,321 (GRCm39)	I1501F		Het
Vps8	A	T	16: 21,393,780 (GRCm39)	T1216S	possibly damaging	Het
Yipf4	G	T	17: 74,800,967 (GRCm39)	R95L	probably damaging	Het
Zan	T	A	5: 137,465,346 (GRCm39)	T470S	probably damaging	Het
Zfp113	G	T	5: 138,143,258 (GRCm39)	H331N	probably damaging	Het
Zfp62	A	G	11: 49,106,902 (GRCm39)	Y331C	probably damaging	Het
Zfyve26	T	C	12: 79,327,610 (GRCm39)	H580R	probably benign	Het

Other mutations in Pabpc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Pabpc2	APN	18	39,908,390 (GRCm39)	missense	possibly damaging	0.78
IGL01295:Pabpc2	APN	18	39,907,082 (GRCm39)	missense	probably damaging	1.00
IGL02061:Pabpc2	APN	18	39,908,046 (GRCm39)	missense	probably benign	0.01
IGL02104:Pabpc2	APN	18	39,907,936 (GRCm39)	missense	possibly damaging	0.65
IGL02513:Pabpc2	APN	18	39,908,193 (GRCm39)	missense	probably benign	0.08
R0201:Pabpc2	UTSW	18	39,908,360 (GRCm39)	missense	probably benign	0.01
R0383:Pabpc2	UTSW	18	39,908,448 (GRCm39)	missense	probably damaging	0.99
R0616:Pabpc2	UTSW	18	39,906,792 (GRCm39)	missense	possibly damaging	0.94
R0727:Pabpc2	UTSW	18	39,908,187 (GRCm39)	missense	probably benign	0.00
R1597:Pabpc2	UTSW	18	39,906,953 (GRCm39)	missense	probably damaging	1.00
R1722:Pabpc2	UTSW	18	39,908,169 (GRCm39)	missense	probably benign	0.08
R1818:Pabpc2	UTSW	18	39,907,163 (GRCm39)	missense	probably damaging	1.00
R2230:Pabpc2	UTSW	18	39,908,123 (GRCm39)	missense	probably benign	0.00
R3087:Pabpc2	UTSW	18	39,907,319 (GRCm39)	missense	probably benign	0.02
R4080:Pabpc2	UTSW	18	39,908,583 (GRCm39)	missense	possibly damaging	0.86
R4332:Pabpc2	UTSW	18	39,908,393 (GRCm39)	missense	probably benign	0.05
R4386:Pabpc2	UTSW	18	39,908,238 (GRCm39)	missense	probably benign	0.00
R4445:Pabpc2	UTSW	18	39,907,253 (GRCm39)	missense	probably damaging	1.00
R4718:Pabpc2	UTSW	18	39,907,556 (GRCm39)	missense	probably benign
R4744:Pabpc2	UTSW	18	39,907,881 (GRCm39)	missense	probably benign	0.07
R4748:Pabpc2	UTSW	18	39,907,322 (GRCm39)	nonsense	probably null
R5085:Pabpc2	UTSW	18	39,907,635 (GRCm39)	missense	probably damaging	1.00
R5113:Pabpc2	UTSW	18	39,908,436 (GRCm39)	missense	probably benign	0.16
R5994:Pabpc2	UTSW	18	39,906,947 (GRCm39)	missense	probably benign	0.18
R6216:Pabpc2	UTSW	18	39,907,772 (GRCm39)	missense	probably damaging	1.00
R6239:Pabpc2	UTSW	18	39,906,891 (GRCm39)	missense	probably damaging	1.00
R6355:Pabpc2	UTSW	18	39,907,445 (GRCm39)	missense	probably damaging	0.97
R7221:Pabpc2	UTSW	18	39,906,963 (GRCm39)	missense	possibly damaging	0.52
R7738:Pabpc2	UTSW	18	39,907,319 (GRCm39)	missense	possibly damaging	0.78
R7767:Pabpc2	UTSW	18	39,907,607 (GRCm39)	missense	possibly damaging	0.66
R8059:Pabpc2	UTSW	18	39,907,875 (GRCm39)	missense	probably benign	0.33
R8528:Pabpc2	UTSW	18	39,908,439 (GRCm39)	missense	probably benign	0.00
R8905:Pabpc2	UTSW	18	39,907,704 (GRCm39)	missense	probably benign	0.30
R9617:Pabpc2	UTSW	18	39,907,602 (GRCm39)	missense	probably benign
X0024:Pabpc2	UTSW	18	39,908,450 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTGCTTCCATGTTAGTAACCG -3'
(R):5'- CAGACCTGACATTGGCTCAG -3'

Sequencing Primer
(F):5'- TGTTAGTAACCGCTCCTCAAGAG -3'
(R):5'- ACTGCCAACAGCTTTCTG -3'

Posted On

2020-07-13