Mutagenetix > Incidental Mutation

Incidental Mutation 'R4552:Papolb'

334004

Institutional Source

Beutler Lab

Gene Symbol

Papolb

Ensembl Gene

ENSMUSG00000074817

Gene Name

poly (A) polymerase beta (testis specific)

Synonyms

Papt, TPAP, Papola-ps, Plap-ps

MMRRC Submission

041783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142513495-142515831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142514933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 237 (I237V)

Ref Sequence

ENSEMBL: ENSMUSP00000100595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063635] [ENSMUST00000085758] [ENSMUST00000099400] [ENSMUST00000110785]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000063635

SMART Domains

Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576

Domain	Start	End	E-Value	Type
RA	61	164	1.68e-15	SMART
Blast:FHA	265	332	2e-25	BLAST
low complexity region	344	354	N/A	INTRINSIC
low complexity region	550	560	N/A	INTRINSIC
DIL	634	743	6.19e-34	SMART
low complexity region	950	964	N/A	INTRINSIC
PDZ	979	1056	3.86e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085758

SMART Domains

Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576

Domain	Start	End	E-Value	Type
RA	90	193	1.68e-15	SMART
Blast:FHA	294	361	2e-25	BLAST
low complexity region	373	383	N/A	INTRINSIC
low complexity region	579	589	N/A	INTRINSIC
DIL	663	772	6.19e-34	SMART
low complexity region	979	993	N/A	INTRINSIC
PDZ	1008	1085	3.86e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099400
AA Change: I237V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100595
Gene: ENSMUSG00000074817
AA Change: I237V

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
Pfam:PAP_central	22	365	1.2e-118	PFAM
Pfam:NTP_transf_2	77	176	7.9e-16	PFAM
Pfam:PAP_RNA-bind	367	436	2.3e-22	PFAM
low complexity region	593	610	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110785

SMART Domains

Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576

Domain	Start	End	E-Value	Type
RA	61	164	1.68e-15	SMART
Blast:FHA	265	332	2e-25	BLAST
low complexity region	344	354	N/A	INTRINSIC
low complexity region	550	560	N/A	INTRINSIC
DIL	634	743	6.19e-34	SMART
low complexity region	973	987	N/A	INTRINSIC
PDZ	1002	1079	3.86e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139824

Meta Mutation Damage Score

0.0866

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

97% (62/64)

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit male infertility associated with reduced testes weight, smaller seminiferous tubules, and arrested spermiogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Arhgap33	A	T	7: 30,218,533 (GRCm39)		probably benign	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
C4bp	A	G	1: 130,564,464 (GRCm39)	Y407H	possibly damaging	Het
Camta1	T	C	4: 151,876,959 (GRCm39)	R79G	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cep128	T	C	12: 91,260,936 (GRCm39)	E309G	probably damaging	Het
Chit1	A	G	1: 134,071,789 (GRCm39)	T100A	probably benign	Het
Dalrd3	A	G	9: 108,449,429 (GRCm39)	D454G	possibly damaging	Het
Ddx19a	G	A	8: 111,705,198 (GRCm39)	Q308*	probably null	Het
Dmxl2	T	C	9: 54,359,047 (GRCm39)	N395S	probably damaging	Het
Dnah17	T	C	11: 117,943,769 (GRCm39)	D3125G	possibly damaging	Het
Dnah5	T	C	15: 28,397,300 (GRCm39)	V3331A	probably benign	Het
Dnah9	T	C	11: 65,732,192 (GRCm39)	E4238G	probably damaging	Het
Dner	T	C	1: 84,361,578 (GRCm39)	Y677C	probably damaging	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Hid1	G	A	11: 115,249,505 (GRCm39)	T240M	possibly damaging	Het
Igbp1b	T	A	6: 138,635,112 (GRCm39)	M111L	probably benign	Het
Kif26b	T	A	1: 178,711,600 (GRCm39)	I740N	probably damaging	Het
Klk4	C	A	7: 43,533,443 (GRCm39)	H101N	probably benign	Het
Mrgpra2b	C	A	7: 47,113,754 (GRCm39)	S300I	probably benign	Het
Mtss2	A	G	8: 111,465,137 (GRCm39)	T464A	probably damaging	Het
Nbas	T	C	12: 13,385,938 (GRCm39)		probably null	Het
Nif3l1	C	T	1: 58,488,483 (GRCm39)		probably benign	Het
Noct	T	A	3: 51,157,589 (GRCm39)	I309N	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Odf2l	A	T	3: 144,856,844 (GRCm39)	T600S	probably benign	Het
Odf4	C	T	11: 68,812,866 (GRCm39)	S264N	probably benign	Het
Or13a17	A	T	7: 140,271,655 (GRCm39)	Y279F	probably damaging	Het
Or1m1	A	G	9: 18,666,430 (GRCm39)	V167A	possibly damaging	Het
Or2y1e	A	T	11: 49,218,777 (GRCm39)	M180L	probably benign	Het
Or6c217	T	C	10: 129,737,992 (GRCm39)	M196V	probably benign	Het
Parpbp	T	A	10: 87,929,564 (GRCm39)	Q428L	possibly damaging	Het
Pclo	T	C	5: 14,719,285 (GRCm39)	S1141P	unknown	Het
Plcb1	T	C	2: 135,177,413 (GRCm39)	S582P	probably benign	Het
Ppargc1a	C	T	5: 51,620,557 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,813,346 (GRCm39)	I416L	probably benign	Het
Rhpn1	G	A	15: 75,585,968 (GRCm39)	R627H	probably benign	Het
Ric8a	G	A	7: 140,441,250 (GRCm39)	G182S	probably damaging	Het
Rims1	T	C	1: 22,443,718 (GRCm39)	D895G	probably damaging	Het
Rrp1b	G	A	17: 32,274,984 (GRCm39)		probably benign	Het
Rtf1	T	A	2: 119,561,210 (GRCm39)	D636E	probably benign	Het
Scn3a	T	C	2: 65,354,523 (GRCm39)	D333G	probably benign	Het
Sema6a	A	G	18: 47,424,990 (GRCm39)	L207P	probably damaging	Het
Shcbp1	A	T	8: 4,799,779 (GRCm39)	Y160*	probably null	Het
Slc27a1	A	T	8: 72,032,710 (GRCm39)		probably null	Het
Ston2	C	T	12: 91,608,646 (GRCm39)	R818Q	probably damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Tjap1	A	T	17: 46,570,953 (GRCm39)		probably null	Het
Vmn1r117	A	T	7: 20,617,517 (GRCm39)	F177Y	probably damaging	Het
Vmn1r57	A	G	7: 5,223,667 (GRCm39)	D64G	possibly damaging	Het
Vmn2r73	T	A	7: 85,525,055 (GRCm39)	D31V	probably benign	Het
Vmn2r-ps41	A	T	7: 9,180,063 (GRCm39)		noncoding transcript	Het

Other mutations in Papolb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02445:Papolb	APN	5	142,514,480 (GRCm39)	missense	probably benign	0.01
R0393:Papolb	UTSW	5	142,515,211 (GRCm39)	missense	probably damaging	0.98
R4551:Papolb	UTSW	5	142,514,933 (GRCm39)	missense	probably benign	0.30
R4553:Papolb	UTSW	5	142,514,933 (GRCm39)	missense	probably benign	0.30
R5121:Papolb	UTSW	5	142,514,592 (GRCm39)	missense	probably benign	0.00
R5261:Papolb	UTSW	5	142,515,409 (GRCm39)	missense	possibly damaging	0.85
R5348:Papolb	UTSW	5	142,514,972 (GRCm39)	missense	possibly damaging	0.66
R5861:Papolb	UTSW	5	142,514,992 (GRCm39)	missense	possibly damaging	0.59
R6454:Papolb	UTSW	5	142,515,353 (GRCm39)	missense	possibly damaging	0.77
R6860:Papolb	UTSW	5	142,514,651 (GRCm39)	missense	possibly damaging	0.52
R6902:Papolb	UTSW	5	142,513,906 (GRCm39)	missense	probably benign
R8145:Papolb	UTSW	5	142,514,353 (GRCm39)	missense	probably benign
R8419:Papolb	UTSW	5	142,514,296 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GATGGTACCTGTCACTAGGATTC -3'
(R):5'- TCCAGAAGATTTGGACCTACGAG -3'

Sequencing Primer
(F):5'- TCTTGGGTCCCATACAGGCAAG -3'
(R):5'- TGGACCTACGAGATGATAGTCTGC -3'

Posted On

2015-08-18