Mutagenetix > Incidental Mutation

Incidental Mutation 'R8791:Pnp2'

670959

Institutional Source

Beutler Lab

Gene Symbol

Pnp2

Ensembl Gene

ENSMUSG00000068417

Gene Name

purine-nucleoside phosphorylase 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R8791 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50955992-50964749 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 50963416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 119 (H119Q)

Ref Sequence

ENSEMBL: ENSMUSP00000093615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095925] [ENSMUST00000178092] [ENSMUST00000227052]

AlphaFold

Q9D8C9

Predicted Effect

probably benign
Transcript: ENSMUST00000095925
AA Change: H119Q

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

SMART Domains

Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: H119Q

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	41	295	4.9e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178092

SMART Domains

Protein: ENSMUSP00000136557
Gene: ENSMUSG00000115338

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	26	280	2e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227052

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,187,260	Y654C	probably damaging	Het
4931422A03Rik	G	T	2: 103,992,677	T87K	possibly damaging	Het
Adar	G	A	3: 89,736,138	R442Q	probably benign	Het
Agtr1b	T	A	3: 20,316,116	S109C	probably damaging	Het
Akr1c6	T	A	13: 4,449,374	Y248N	probably benign	Het
Alpk2	A	T	18: 65,305,526	V932E	probably benign	Het
Apba3	T	A	10: 81,269,270	S126T	probably benign	Het
Brca2	T	A	5: 150,542,596	S1942T	possibly damaging	Het
Ccdc149	C	T	5: 52,439,210	C20Y	probably damaging	Het
Cd63	C	A	10: 128,912,202	N156K	probably benign	Het
Clvs1	A	G	4: 9,429,807	E270G	probably damaging	Het
Dgki	A	T	6: 37,019,940	D574E	probably damaging	Het
Esrrb	A	G	12: 86,470,282	S63G	probably damaging	Het
Exoc1	C	T	5: 76,535,565	R46C	probably damaging	Het
Fcgr4	C	A	1: 171,019,908	A25D	probably damaging	Het
Fgf4	T	C	7: 144,861,671	V56A	probably benign	Het
Gfpt2	A	G	11: 49,823,216	I267V	probably benign	Het
Gm20939	A	C	17: 94,877,220	H432P	probably damaging	Het
Gpr179	A	T	11: 97,351,913	L35Q	probably damaging	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Ildr1	T	C	16: 36,708,400	I69T	probably damaging	Het
Lrfn1	A	G	7: 28,459,919	D421G	probably benign	Het
Mmp15	C	T	8: 95,369,660	Q360*	probably null	Het
Nfatc2	T	C	2: 168,536,294	K484E	probably damaging	Het
Nkpd1	G	C	7: 19,524,170	V625L	probably benign	Het
Nlrp4a	C	A	7: 26,444,136		probably benign	Het
Nme9	T	A	9: 99,468,248	I178N	probably damaging	Het
Nrp2	C	T	1: 62,749,197	T352I	probably damaging	Het
Ntrk1	T	C	3: 87,779,683	I723V	probably damaging	Het
Olfr469	C	T	7: 107,823,350	V40M	possibly damaging	Het
Pias3	C	A	3: 96,704,885	Q553K	probably benign	Het
Rapgef6	T	A	11: 54,568,469	D156E	probably benign	Het
Rint1	T	C	5: 23,800,596	V92A	probably damaging	Het
Rnf148	A	T	6: 23,654,994	M1K	probably null	Het
Rnh1	C	T	7: 141,162,433	R404H	probably benign	Het
Slc4a8	T	C	15: 100,807,253	V832A	possibly damaging	Het
Snx31	A	T	15: 36,537,532	C167S	probably benign	Het
Spata13	C	T	14: 60,691,826	R278C	probably damaging	Het
Spg20	A	G	3: 55,121,679	D297G	probably benign	Het
Tmc1	T	C	19: 20,789,845	T716A	probably benign	Het
Tpi1	A	G	6: 124,812,520	V164A	probably damaging	Het
Trim17	A	G	11: 58,971,176	S345G	probably benign	Het
Vmn1r199	T	A	13: 22,383,517	L327Q	probably damaging	Het
Washc4	C	T	10: 83,550,884	T124I	probably benign	Het
Wdr76	C	T	2: 121,527,003	T180I	probably benign	Het
Zcchc8	T	C	5: 123,707,299	N333D	probably benign	Het
Zfp516	T	C	18: 82,957,335	S553P	probably damaging	Het

Other mutations in Pnp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02025:Pnp2	APN	14	50959553	missense	probably damaging	1.00
IGL02418:Pnp2	APN	14	50963836	missense	possibly damaging	0.51
IGL03216:Pnp2	APN	14	50963197	missense	probably benign	0.01
IGL03388:Pnp2	APN	14	50963538	missense	probably damaging	1.00
R0049:Pnp2	UTSW	14	50959533	nonsense	probably null
R0097:Pnp2	UTSW	14	50963501	missense	probably benign	0.08
R0123:Pnp2	UTSW	14	50963177	missense	probably damaging	1.00
R0134:Pnp2	UTSW	14	50963177	missense	probably damaging	1.00
R0158:Pnp2	UTSW	14	50964304	missense	probably damaging	1.00
R1477:Pnp2	UTSW	14	50959535	missense	probably benign	0.35
R1820:Pnp2	UTSW	14	50964457	missense	possibly damaging	0.93
R1934:Pnp2	UTSW	14	50956218	missense	probably benign
R2138:Pnp2	UTSW	14	50963704	missense	probably damaging	1.00
R3843:Pnp2	UTSW	14	50963421	missense	probably null	1.00
R4355:Pnp2	UTSW	14	50959625	missense	probably benign
R4938:Pnp2	UTSW	14	50963568	splice site	probably null
R5516:Pnp2	UTSW	14	50963738	missense	probably benign	0.33
R5636:Pnp2	UTSW	14	50956192	splice site	probably null
R6396:Pnp2	UTSW	14	50963159	missense	probably damaging	1.00
R7117:Pnp2	UTSW	14	50964474	makesense	probably null
R7862:Pnp2	UTSW	14	50963559	missense	possibly damaging	0.95
R7934:Pnp2	UTSW	14	50964446	missense	probably benign	0.00
R8057:Pnp2	UTSW	14	50964381	missense	probably benign	0.06
R8104:Pnp2	UTSW	14	50959642	missense	probably benign	0.00
R8488:Pnp2	UTSW	14	50964379	missense	possibly damaging	0.79
R8519:Pnp2	UTSW	14	50964385	missense	probably damaging	1.00
R8916:Pnp2	UTSW	14	50963777	missense	probably damaging	1.00
R9592:Pnp2	UTSW	14	50959522	missense	probably damaging	0.99
R9592:Pnp2	UTSW	14	50959524	nonsense	probably null
R9762:Pnp2	UTSW	14	50959549	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAAGATGGGAGAGCTGTCCTAC -3'
(R):5'- TGGCACCAAGTGAACTTTCTTTC -3'

Sequencing Primer
(F):5'- GGAGAGCTGTCCTACTTTGTCTAAC -3'
(R):5'- AGGCCAGACTCTCTACATGTAG -3'

Posted On

2021-04-30