Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02104:Pabpc2'

279869

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pabpc2

Ensembl Gene

ENSMUSG00000051732

Gene Name

poly(A) binding protein, cytoplasmic 2

Synonyms

Pabp2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

39906550-39909135 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39907936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 400 (Q400H)

Ref Sequence

ENSEMBL: ENSMUSP00000066639 (fasta)

Gene Model

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

AlphaFold

Q62029

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063219
AA Change: Q400H

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: Q400H

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 124,930,714 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,904,415 (GRCm39)	Q125L	probably damaging	Het
Acap3	G	A	4: 155,989,542 (GRCm39)	R662H	probably damaging	Het
Aox4	T	A	1: 58,275,816 (GRCm39)		probably benign	Het
Aqp6	T	C	15: 99,502,159 (GRCm39)	S285P	probably benign	Het
Arhgef5	A	T	6: 43,249,345 (GRCm39)	Q32L	probably damaging	Het
B3gnt6	G	T	7: 97,843,308 (GRCm39)	D217E	probably damaging	Het
Cfap251	T	A	5: 123,440,761 (GRCm39)	L1106*	probably null	Het
Chd6	T	C	2: 160,819,432 (GRCm39)	I1338V	probably benign	Het
Clic6	A	G	16: 92,295,367 (GRCm39)	E9G	possibly damaging	Het
Col11a1	T	A	3: 113,975,046 (GRCm39)		probably null	Het
Dcdc2b	T	A	4: 129,504,867 (GRCm39)	D88V	probably benign	Het
Dis3l	T	A	9: 64,217,611 (GRCm39)	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,311,299 (GRCm39)	Y1008*	probably null	Het
Dnah11	A	G	12: 118,156,125 (GRCm39)	V175A	probably benign	Het
Efl1	A	G	7: 82,307,263 (GRCm39)		probably null	Het
Fam117b	C	T	1: 59,988,278 (GRCm39)	T219I	probably benign	Het
Fgf21	T	A	7: 45,264,648 (GRCm39)	Q28L	probably benign	Het
Folh1	T	C	7: 86,393,638 (GRCm39)	Q391R	possibly damaging	Het
Gars1	A	G	6: 55,054,682 (GRCm39)	D663G	probably damaging	Het
Lats2	A	G	14: 57,971,469 (GRCm39)	F69L	probably damaging	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,892,777 (GRCm39)	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,513,482 (GRCm39)	Y497*	probably null	Het
Mast3	T	C	8: 71,240,550 (GRCm39)	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,778,814 (GRCm39)	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,912,036 (GRCm39)	L353S	probably benign	Het
Muc5ac	T	C	7: 141,364,815 (GRCm39)	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,635,805 (GRCm39)	T9A	probably benign	Het
Or10j2	T	C	1: 173,098,603 (GRCm39)	V287A	probably damaging	Het
Or14j8	A	C	17: 38,263,182 (GRCm39)	H244Q	probably damaging	Het
Or55b3	C	A	7: 102,126,544 (GRCm39)	V178F	probably damaging	Het
Or5an6	T	A	19: 12,372,263 (GRCm39)	V212D	probably damaging	Het
Or5b122	T	A	19: 13,562,968 (GRCm39)	M57K	probably damaging	Het
Or5m8	G	T	2: 85,822,730 (GRCm39)	D190Y	probably damaging	Het
Or7g25	A	T	9: 19,160,166 (GRCm39)	H176Q	probably benign	Het
Pigg	A	G	5: 108,489,963 (GRCm39)	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,306,865 (GRCm39)	V508E	probably benign	Het
Pom121l2	C	A	13: 22,166,445 (GRCm39)	H239N	possibly damaging	Het
Prdm2	A	G	4: 142,859,997 (GRCm39)	S1098P	probably benign	Het
Rnf212	A	G	5: 108,895,306 (GRCm39)	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517 (GRCm39)		probably null	Het
Rpn2	C	T	2: 157,163,747 (GRCm39)	T613M	probably damaging	Het
Scd4	G	T	19: 44,333,186 (GRCm39)	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,574,630 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,088,248 (GRCm39)	R158G	probably benign	Het
Stil	T	C	4: 114,898,679 (GRCm39)	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,670,959 (GRCm39)		probably benign	Het
Tmc1	C	T	19: 20,809,818 (GRCm39)	D255N	probably benign	Het
Trank1	C	A	9: 111,219,780 (GRCm39)	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,643,681 (GRCm39)	R718H	probably damaging	Het
Vamp2	C	A	11: 68,981,483 (GRCm39)	F114L	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
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
R8190:Pabpc2	UTSW	18	39,908,520 (GRCm39)	missense	probably benign	0.01
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

Posted On

2015-04-16