Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Papolb'

393005

Institutional Source

Beutler Lab

Gene Symbol

Papolb

Ensembl Gene

ENSMUSG00000074817

Gene Name

poly (A) polymerase beta (testis specific)

Synonyms

Papt, TPAP, Plap-ps, Papola-ps

MMRRC Submission

042709-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5121 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142525838-142530076 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142528837 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 350 (H350Q)

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: H350Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100595
Gene: ENSMUSG00000074817
AA Change: H350Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,281,650	I234T	probably damaging	Het
Adam24	A	G	8: 40,679,511	E6G	probably damaging	Het
Amz1	A	G	5: 140,744,164	D151G	probably benign	Het
Arhgap24	T	C	5: 102,841,335	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,532,864	N8T	probably benign	Het
Arsi	T	G	18: 60,917,439	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,448,825	V293A	probably damaging	Het
Bzw2	A	G	12: 36,104,351	L340P	probably damaging	Het
Camkmt	C	T	17: 85,096,581	T77I	probably benign	Het
Camsap1	G	T	2: 25,935,550	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,397,123		probably null	Het
Cd163	T	C	6: 124,317,989	C671R	probably damaging	Het
Cdk7	T	C	13: 100,717,684		probably null	Het
Cfi	C	T	3: 129,873,077	P483L	probably damaging	Het
Chn2	C	T	6: 54,218,561	L72F	possibly damaging	Het
Cntn2	C	A	1: 132,517,060	E363*	probably null	Het
Crebbp	T	C	16: 4,093,511	E999G	probably damaging	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Cts3	A	C	13: 61,567,595	I141M	probably benign	Het
Cwc27	A	T	13: 104,804,353	V166D	probably damaging	Het
Defb26	T	C	2: 152,508,165	E65G	possibly damaging	Het
Dnah8	A	G	17: 30,810,353	T4099A	probably benign	Het
Eml6	A	G	11: 29,744,606	F1953L	probably benign	Het
Etl4	T	A	2: 20,340,111		probably null	Het
Fbln1	A	G	15: 85,237,671	E331G	probably damaging	Het
Gabra4	G	A	5: 71,572,203	H76Y	probably benign	Het
Gcat	T	C	15: 79,035,282	V149A	probably damaging	Het
Glp2r	A	T	11: 67,722,100		probably null	Het
Gm572	T	C	4: 148,666,845		probably null	Het
Golgb1	T	C	16: 36,919,258	V2653A	probably damaging	Het
Grap2	G	A	15: 80,646,144	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,223,301	I533L	probably damaging	Het
Gypa	A	T	8: 80,496,348	Y27F	unknown	Het
Hipk4	G	A	7: 27,529,492	V456I	probably benign	Het
Homer2	A	T	7: 81,649,563	D51E	probably benign	Het
Hspa1b	A	T	17: 34,958,004	V335E	possibly damaging	Het
Ift122	A	G	6: 115,912,534	T827A	probably benign	Het
Igkv1-35	T	C	6: 70,011,135	N58S	probably benign	Het
Kat6b	A	T	14: 21,619,258	H297L	probably damaging	Het
Kirrel3	G	T	9: 35,013,305	G296W	probably damaging	Het
Klhl17	A	G	4: 156,230,625	V525A	probably benign	Het
Lrrn1	G	T	6: 107,569,207	R655S	possibly damaging	Het
Ltk	T	C	2: 119,753,227	N256D	probably damaging	Het
Mill2	G	A	7: 18,856,666	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,368	H544L	probably benign	Het
Mphosph10	A	G	7: 64,389,596	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Myb	T	A	10: 21,126,238	M616L	probably benign	Het
Myo15b	C	T	11: 115,886,054	R867W	probably damaging	Het
Myo18b	A	T	5: 112,874,480		probably benign	Het
Nip7	A	G	8: 107,056,957	E8G	possibly damaging	Het
Olfr1318	A	T	2: 112,156,286	M112L	possibly damaging	Het
Olfr368	T	G	2: 37,332,589	F281V	probably damaging	Het
Olfr38	T	A	6: 42,762,997	L315*	probably null	Het
Olfr677	A	G	7: 105,056,482	T79A	possibly damaging	Het
Olfr711	T	C	7: 106,972,231	I38V	probably benign	Het
Optn	T	A	2: 5,046,106	I155F	probably benign	Het
Pappa2	T	A	1: 158,838,627	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,321,117	N183K	probably benign	Het
Pde12	G	T	14: 26,669,422	S44*	probably null	Het
Peg3	T	C	7: 6,710,289	K645E	probably benign	Het
Pkd1	C	T	17: 24,573,463	R1375C	probably benign	Het
Plekha5	G	A	6: 140,579,474	E21K	probably damaging	Het
Plk2	C	T	13: 110,399,424	P554L	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Polg	A	T	7: 79,464,605	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,421,163	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,195,805	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,370,095	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,996,653	V497E	probably damaging	Het
Prpf6	T	A	2: 181,636,043	H399Q	probably benign	Het
Psg25	T	A	7: 18,526,536	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,960,429	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,550,756	V8A	possibly damaging	Het
Rfk	T	C	19: 17,399,566	F144S	probably damaging	Het
Rfwd3	A	C	8: 111,282,753		probably null	Het
Rhpn1	T	C	15: 75,709,260	I117T	probably damaging	Het
Sars2	A	T	7: 28,747,908	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,902,887	H256L	probably benign	Het
Sgcz	G	A	8: 37,539,667	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,379,257	H157Q	probably benign	Het
Spen	T	A	4: 141,476,099	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657	S323R	possibly damaging	Het
Szt2	T	C	4: 118,385,444	E1482G	possibly damaging	Het
Tex15	A	T	8: 33,571,766	K408I	probably damaging	Het
Tex33	C	T	15: 78,386,173	E132K	probably benign	Het
Trem1	T	A	17: 48,232,836	F14L	probably null	Het
Trim26	G	T	17: 36,851,066	E126*	probably null	Het
Trpv3	T	C	11: 73,277,834		probably null	Het
Ttn	T	A	2: 76,916,491		probably null	Het
Ubap1	C	T	4: 41,379,688	L301F	probably benign	Het
Uchl1	T	C	5: 66,676,437	M12T	probably benign	Het
Vill	C	T	9: 119,070,025	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,355,753	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,053,553	S21P	probably benign	Het
Wapl	A	G	14: 34,677,162	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,126	K175E	possibly damaging	Het
Zfp592	T	C	7: 81,023,561	L91P	probably damaging	Het
Zfp74	T	C	7: 29,932,507		probably null	Het
Zglp1	A	T	9: 21,062,661	I243N	probably benign	Het
Zranb1	A	G	7: 132,950,187	E215G	probably benign	Het

Other mutations in Papolb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02445:Papolb	APN	5	142528725	missense	probably benign	0.01
R0393:Papolb	UTSW	5	142529456	missense	probably damaging	0.98
R4551:Papolb	UTSW	5	142529178	missense	probably benign	0.30
R4552:Papolb	UTSW	5	142529178	missense	probably benign	0.30
R4553:Papolb	UTSW	5	142529178	missense	probably benign	0.30
R5261:Papolb	UTSW	5	142529654	missense	possibly damaging	0.85
R5348:Papolb	UTSW	5	142529217	missense	possibly damaging	0.66
R5861:Papolb	UTSW	5	142529237	missense	possibly damaging	0.59
R6454:Papolb	UTSW	5	142529598	missense	possibly damaging	0.77
R6860:Papolb	UTSW	5	142528896	missense	possibly damaging	0.52
R6902:Papolb	UTSW	5	142528151	missense	probably benign
R8145:Papolb	UTSW	5	142528598	missense	probably benign
R8419:Papolb	UTSW	5	142528541	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- ACTGAGGATTCACATGAGCCAG -3'
(R):5'- GGGAATGGCCAAATCCAGTG -3'

Sequencing Primer
(F):5'- TTCACATGAGCCAGAGTAATGAAC -3'
(R):5'- GGCCAAATCCAGTGTTGTTAAAAG -3'

Posted On

2016-06-15