Mutagenetix > Incidental Mutation

Incidental Mutation 'R0097:Pnp2'

41171

Institutional Source

Beutler Lab

Gene Symbol

Pnp2

Ensembl Gene

ENSMUSG00000068417

Gene Name

purine-nucleoside phosphorylase 2

Synonyms

MMRRC Submission

038383-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R0097 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

50955992-50964749 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50963501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 148 (R148C)

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: R148C

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: R148C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228593

Meta Mutation Damage Score

0.1209

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,412,480	I353K	probably benign	Het
5830473C10Rik	T	A	5: 90,584,936	S535R	probably benign	Het
Arfgap2	T	A	2: 91,274,815	V422E	probably benign	Het
Baz1b	T	C	5: 135,198,259	S105P	probably benign	Het
Bbs10	T	C	10: 111,298,844	V41A	probably damaging	Het
Cacna1s	T	A	1: 136,100,622	M899K	possibly damaging	Het
Ccnd2	G	A	6: 127,146,052	A180V	probably benign	Het
Cldnd1	A	G	16: 58,729,715	N87S	possibly damaging	Het
Cyp2c54	T	A	19: 40,047,658		probably benign	Het
Cyp2c54	G	T	19: 40,047,659		probably benign	Het
Dab2ip	G	A	2: 35,718,916	V629M	possibly damaging	Het
Ddx41	A	T	13: 55,535,878		probably benign	Het
Dmrta1	A	T	4: 89,688,872	R188S	probably benign	Het
Eml3	T	A	19: 8,936,651	F465L	probably benign	Het
Gm13128	T	C	4: 144,331,287	S155P	probably benign	Het
Gm9938	T	A	19: 23,724,464		probably benign	Het
Gpr87	G	A	3: 59,179,085	T333I	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Llgl2	T	A	11: 115,844,497	Y59*	probably null	Het
Lzic	A	G	4: 149,488,076	E41G	probably damaging	Het
Mprip	T	A	11: 59,758,491	L1007Q	possibly damaging	Het
Mtfr2	T	A	10: 20,348,376	S19T	probably damaging	Het
Mycbp2	A	T	14: 103,155,762	M3121K	probably damaging	Het
Myocd	T	A	11: 65,179,014	M667L	possibly damaging	Het
Narfl	T	C	17: 25,777,002	S67P	possibly damaging	Het
Ncam2	A	G	16: 81,517,537	D467G	probably damaging	Het
Neb	T	C	2: 52,204,894	N4882S	probably damaging	Het
Neu2	A	G	1: 87,597,466	D391G	probably benign	Het
Nol4	C	A	18: 22,719,141	A456S	probably benign	Het
Olfr1025-ps1	T	C	2: 85,918,840	V305A	probably benign	Het
Padi6	C	T	4: 140,730,957	V513M	probably benign	Het
Pign	G	A	1: 105,587,976		probably benign	Het
Plpp2	T	C	10: 79,530,537	E91G	possibly damaging	Het
Pnp	T	A	14: 50,951,416	V222D	probably damaging	Het
Prss38	A	G	11: 59,375,608	L8S	possibly damaging	Het
Rab5b	A	T	10: 128,682,940	F108I	probably damaging	Het
Rbbp5	T	A	1: 132,490,489	H15Q	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469	V15G	probably benign	Het
Rsl1	A	C	13: 67,181,902	Q138P	probably damaging	Het
Ryr3	T	C	2: 112,800,055	D2157G	probably damaging	Het
Secisbp2l	T	C	2: 125,771,456	D206G	probably damaging	Het
Sh3pxd2b	T	A	11: 32,403,978	I182N	probably damaging	Het
Slc3a1	A	T	17: 85,032,860	I237F	probably damaging	Het
Svs3b	T	C	2: 164,256,239	E54G	probably damaging	Het
T	A	T	17: 8,439,901		probably benign	Het
Tenm4	A	T	7: 96,892,926	D1882V	probably damaging	Het
Tgfbr1	T	A	4: 47,403,451	L283*	probably null	Het
Tppp3	C	T	8: 105,467,922	A149T	probably benign	Het
Ubp1	T	C	9: 113,973,507		probably benign	Het
Ushbp1	C	T	8: 71,390,713	C314Y	probably damaging	Het
Vav2	A	T	2: 27,299,362		probably benign	Het
Vmn1r228	T	C	17: 20,776,363	M298V	probably benign	Het
Zmpste24	A	T	4: 121,095,543		probably benign	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
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
R8791:Pnp2	UTSW	14	50963416	missense	probably benign	0.00
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'- AGATCCTGTGTGATGATGCAAGGC -3'
(R):5'- TGGCACCAAGTGAACTTTCTTTCCC -3'

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

Posted On

2013-05-23