Mutagenetix > Incidental Mutation

Incidental Mutation 'R0123:Pnp2'

21189

Institutional Source

Beutler Lab

Gene Symbol

Pnp2

Ensembl Gene

ENSMUSG00000068417

Gene Name

purine-nucleoside phosphorylase 2

Synonyms

MMRRC Submission

038408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R0123 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

51193598-51202206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51200634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 100 (F100S)

Ref Sequence

ENSEMBL: ENSMUSP00000093615 (fasta)

Gene Model

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

AlphaFold

Q9D8C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000095925
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: F100S

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

0.9693

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,565 (GRCm39)		probably benign	Het
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,476,584 (GRCm39)	R105Q	probably damaging	Het
Becn1	A	G	11: 101,181,324 (GRCm39)	Y326H	probably damaging	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cacna1g	T	A	11: 94,300,302 (GRCm39)	H2156L	probably damaging	Het
Cd22	A	G	7: 30,566,533 (GRCm39)		probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Cmya5	A	G	13: 93,232,412 (GRCm39)	L892P	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Cts8	T	A	13: 61,401,391 (GRCm39)	M75L	probably benign	Het
Ddx50	A	T	10: 62,457,156 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,197,274 (GRCm39)	M1558V	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,597,728 (GRCm39)	F108L	probably damaging	Het
Ell2	T	C	13: 75,910,259 (GRCm39)		probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Fhip2a	G	A	19: 57,369,839 (GRCm39)	D461N	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgb3	A	T	11: 104,527,914 (GRCm39)	K216N	probably damaging	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif16b	A	T	2: 142,514,295 (GRCm39)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Macf1	T	C	4: 123,326,636 (GRCm39)	M2835V	possibly damaging	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,490,089 (GRCm39)	C546Y	probably damaging	Het
Notch4	C	T	17: 34,784,337 (GRCm39)	R43W	possibly damaging	Het
Nrxn1	A	T	17: 91,302,915 (GRCm39)		probably null	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,564,783 (GRCm39)	S327P	probably damaging	Het
Siah2	A	G	3: 58,583,536 (GRCm39)	V250A	probably damaging	Het
Slc10a7	T	A	8: 79,423,787 (GRCm39)		probably null	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
Smarca4	T	C	9: 21,548,620 (GRCm39)	L302P	probably damaging	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tenm3	A	T	8: 49,127,507 (GRCm39)	L57Q	probably damaging	Het
Tep1	C	T	14: 51,067,150 (GRCm39)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Tsfm	A	G	10: 126,858,798 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Upk1a	A	T	7: 30,311,819 (GRCm39)	I25N	possibly damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Zfp108	A	G	7: 23,959,892 (GRCm39)	H161R	probably benign	Het
Zfp982	A	T	4: 147,597,093 (GRCm39)	K150I	probably benign	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zswim8	T	C	14: 20,766,558 (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
R0097:Pnp2	UTSW	14	51,200,958 (GRCm39)	missense	probably benign	0.08
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'- CATCATACGTTAGACACAGTGAGTGGC -3'
(R):5'- AACTTTCTTTCCCAACTCCTGGACAAG -3'

Sequencing Primer
(F):5'- ctttttgtagcagtctcgcc -3'
(R):5'- CTCACTGGGAATGTCACCTTAGATG -3'

Posted On

2013-04-11