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

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R0097 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

51193598-51202206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51200958 bp (GRCm39)

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: 124,206,129 (GRCm39)	I353K	probably benign	Het
Albfm1	T	A	5: 90,732,795 (GRCm39)	S535R	probably benign	Het
Arfgap2	T	A	2: 91,105,160 (GRCm39)	V422E	probably benign	Het
Baz1b	T	C	5: 135,227,113 (GRCm39)	S105P	probably benign	Het
Bbs10	T	C	10: 111,134,705 (GRCm39)	V41A	probably damaging	Het
Cacna1s	T	A	1: 136,028,360 (GRCm39)	M899K	possibly damaging	Het
Ccnd2	G	A	6: 127,123,015 (GRCm39)	A180V	probably benign	Het
Ciao3	T	C	17: 25,995,976 (GRCm39)	S67P	possibly damaging	Het
Cldnd1	A	G	16: 58,550,078 (GRCm39)	N87S	possibly damaging	Het
Cyp2c54	T	A	19: 40,036,102 (GRCm39)		probably benign	Het
Cyp2c54	G	T	19: 40,036,103 (GRCm39)		probably benign	Het
Dab2ip	G	A	2: 35,608,928 (GRCm39)	V629M	possibly damaging	Het
Ddx41	A	T	13: 55,683,691 (GRCm39)		probably benign	Het
Dmrta1	A	T	4: 89,577,109 (GRCm39)	R188S	probably benign	Het
Eml3	T	A	19: 8,914,015 (GRCm39)	F465L	probably benign	Het
Gm9938	T	A	19: 23,701,828 (GRCm39)		probably benign	Het
Gpr87	G	A	3: 59,086,506 (GRCm39)	T333I	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Llgl2	T	A	11: 115,735,323 (GRCm39)	Y59*	probably null	Het
Lzic	A	G	4: 149,572,533 (GRCm39)	E41G	probably damaging	Het
Mprip	T	A	11: 59,649,317 (GRCm39)	L1007Q	possibly damaging	Het
Mtfr2	T	A	10: 20,224,122 (GRCm39)	S19T	probably damaging	Het
Mycbp2	A	T	14: 103,393,198 (GRCm39)	M3121K	probably damaging	Het
Myocd	T	A	11: 65,069,840 (GRCm39)	M667L	possibly damaging	Het
Ncam2	A	G	16: 81,314,425 (GRCm39)	D467G	probably damaging	Het
Neb	T	C	2: 52,094,906 (GRCm39)	N4882S	probably damaging	Het
Neu2	A	G	1: 87,525,188 (GRCm39)	D391G	probably benign	Het
Nol4	C	A	18: 22,852,198 (GRCm39)	A456S	probably benign	Het
Or5m13	T	C	2: 85,749,184 (GRCm39)	V305A	probably benign	Het
Padi6	C	T	4: 140,458,268 (GRCm39)	V513M	probably benign	Het
Pign	G	A	1: 105,515,701 (GRCm39)		probably benign	Het
Plpp2	T	C	10: 79,366,371 (GRCm39)	E91G	possibly damaging	Het
Pnp	T	A	14: 51,188,873 (GRCm39)	V222D	probably damaging	Het
Pramel30	T	C	4: 144,057,857 (GRCm39)	S155P	probably benign	Het
Prss38	A	G	11: 59,266,434 (GRCm39)	L8S	possibly damaging	Het
Rab5b	A	T	10: 128,518,809 (GRCm39)	F108I	probably damaging	Het
Rbbp5	T	A	1: 132,418,227 (GRCm39)	H15Q	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Rsl1	A	C	13: 67,329,966 (GRCm39)	Q138P	probably damaging	Het
Ryr3	T	C	2: 112,630,400 (GRCm39)	D2157G	probably damaging	Het
Secisbp2l	T	C	2: 125,613,376 (GRCm39)	D206G	probably damaging	Het
Sh3pxd2b	T	A	11: 32,353,978 (GRCm39)	I182N	probably damaging	Het
Slc3a1	A	T	17: 85,340,288 (GRCm39)	I237F	probably damaging	Het
Svs3b	T	C	2: 164,098,159 (GRCm39)	E54G	probably damaging	Het
T	A	T	17: 8,658,733 (GRCm39)		probably benign	Het
Tenm4	A	T	7: 96,542,133 (GRCm39)	D1882V	probably damaging	Het
Tgfbr1	T	A	4: 47,403,451 (GRCm39)	L283*	probably null	Het
Tppp3	C	T	8: 106,194,554 (GRCm39)	A149T	probably benign	Het
Ubp1	T	C	9: 113,802,575 (GRCm39)		probably benign	Het
Ushbp1	C	T	8: 71,843,357 (GRCm39)	C314Y	probably damaging	Het
Vav2	A	T	2: 27,189,374 (GRCm39)		probably benign	Het
Vmn1r228	T	C	17: 20,996,625 (GRCm39)	M298V	probably benign	Het
Zmpste24	A	T	4: 120,952,740 (GRCm39)		probably benign	Het

Other mutations in Pnp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02025:Pnp2	APN	14	51,197,010 (GRCm39)	missense	probably damaging	1.00
IGL02418:Pnp2	APN	14	51,201,293 (GRCm39)	missense	possibly damaging	0.51
IGL03216:Pnp2	APN	14	51,200,654 (GRCm39)	missense	probably benign	0.01
IGL03388:Pnp2	APN	14	51,200,995 (GRCm39)	missense	probably damaging	1.00
R0049:Pnp2	UTSW	14	51,196,990 (GRCm39)	nonsense	probably null
R0123:Pnp2	UTSW	14	51,200,634 (GRCm39)	missense	probably damaging	1.00
R0134:Pnp2	UTSW	14	51,200,634 (GRCm39)	missense	probably damaging	1.00
R0158:Pnp2	UTSW	14	51,201,761 (GRCm39)	missense	probably damaging	1.00
R1477:Pnp2	UTSW	14	51,196,992 (GRCm39)	missense	probably benign	0.35
R1820:Pnp2	UTSW	14	51,201,914 (GRCm39)	missense	possibly damaging	0.93
R1934:Pnp2	UTSW	14	51,193,675 (GRCm39)	missense	probably benign
R2138:Pnp2	UTSW	14	51,201,161 (GRCm39)	missense	probably damaging	1.00
R3843:Pnp2	UTSW	14	51,200,878 (GRCm39)	missense	probably null	1.00
R4355:Pnp2	UTSW	14	51,197,082 (GRCm39)	missense	probably benign
R4938:Pnp2	UTSW	14	51,201,025 (GRCm39)	splice site	probably null
R5516:Pnp2	UTSW	14	51,201,195 (GRCm39)	missense	probably benign	0.33
R5636:Pnp2	UTSW	14	51,193,649 (GRCm39)	splice site	probably null
R6396:Pnp2	UTSW	14	51,200,616 (GRCm39)	missense	probably damaging	1.00
R7117:Pnp2	UTSW	14	51,201,931 (GRCm39)	makesense	probably null
R7862:Pnp2	UTSW	14	51,201,016 (GRCm39)	missense	possibly damaging	0.95
R7934:Pnp2	UTSW	14	51,201,903 (GRCm39)	missense	probably benign	0.00
R8057:Pnp2	UTSW	14	51,201,838 (GRCm39)	missense	probably benign	0.06
R8104:Pnp2	UTSW	14	51,197,099 (GRCm39)	missense	probably benign	0.00
R8488:Pnp2	UTSW	14	51,201,836 (GRCm39)	missense	possibly damaging	0.79
R8519:Pnp2	UTSW	14	51,201,842 (GRCm39)	missense	probably damaging	1.00
R8791:Pnp2	UTSW	14	51,200,873 (GRCm39)	missense	probably benign	0.00
R8916:Pnp2	UTSW	14	51,201,234 (GRCm39)	missense	probably damaging	1.00
R9592:Pnp2	UTSW	14	51,196,981 (GRCm39)	nonsense	probably null
R9592:Pnp2	UTSW	14	51,196,979 (GRCm39)	missense	probably damaging	0.99
R9762:Pnp2	UTSW	14	51,197,006 (GRCm39)	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