Mutagenetix > Incidental Mutation

Incidental Mutation 'R9592:Pnp2'

723057

Institutional Source

Beutler Lab

Gene Symbol

Pnp2

Ensembl Gene

ENSMUSG00000068417

Gene Name

purine-nucleoside phosphorylase 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9592 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51193598-51202206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51196979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 22 (Y22N)

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: Y22N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: Y22N

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: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	G	T	9: 4,309,312 (GRCm39)	P42Q	probably benign	Het
Adat1	G	T	8: 112,709,314 (GRCm39)	P170T	probably benign	Het
Ap4e1	A	G	2: 126,903,588 (GRCm39)	D830G	probably benign	Het
Apc	T	A	18: 34,443,823 (GRCm39)	C605*	probably null	Het
Atp2b4	A	G	1: 133,659,568 (GRCm39)	S465P	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cdhr3	A	G	12: 33,136,007 (GRCm39)	S78P	possibly damaging	Het
Ckap4	G	A	10: 84,364,175 (GRCm39)	T296M	probably damaging	Het
Cyp11a1	G	A	9: 57,925,605 (GRCm39)	R182H	possibly damaging	Het
Fem1b	A	T	9: 62,704,959 (GRCm39)	H100Q	probably damaging	Het
Gm5464	T	A	14: 67,106,366 (GRCm39)	M1K	probably null	Het
Igkv12-41	G	A	6: 69,835,579 (GRCm39)	Q58*	probably null	Het
Kcnq2	T	C	2: 180,728,813 (GRCm39)	Y572C	probably damaging	Het
Krt87	T	C	15: 101,386,060 (GRCm39)	T234A	probably benign	Het
Ksr2	G	A	5: 117,894,344 (GRCm39)	G828S	probably damaging	Het
Megf8	C	T	7: 25,028,228 (GRCm39)	T264M	probably benign	Het
Myof	A	T	19: 38,031,737 (GRCm39)	I12N	probably damaging	Het
Nsd1	T	G	13: 55,424,355 (GRCm39)	D1467E	probably damaging	Het
Nsrp1	A	T	11: 76,940,104 (GRCm39)	L167Q	probably damaging	Het
Nsun4	A	T	4: 115,908,852 (GRCm39)	H569Q	possibly damaging	Het
Or51q1	T	C	7: 103,629,179 (GRCm39)	V260A	possibly damaging	Het
Or5b105	A	G	19: 13,079,906 (GRCm39)	I254T	probably benign	Het
Pcdha7	A	T	18: 37,109,045 (GRCm39)	D690V	probably benign	Het
Pcdhb2	G	A	18: 37,429,266 (GRCm39)	R56Q	probably damaging	Het
Pcsk5	G	T	19: 17,652,899 (GRCm39)	Y262*	probably null	Het
Pdzd2	G	C	15: 12,458,106 (GRCm39)	N78K	probably damaging	Het
Pglyrp3	T	C	3: 91,938,859 (GRCm39)	F345L	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rmdn1	T	C	4: 19,599,660 (GRCm39)	M206T	possibly damaging	Het
Rnf166	A	T	8: 123,197,048 (GRCm39)	L68Q	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Scin	C	T	12: 40,131,746 (GRCm39)	V263I	probably benign	Het
Secisbp2l	C	A	2: 125,582,561 (GRCm39)	R965L	probably damaging	Het
Senp2	G	A	16: 21,845,435 (GRCm39)	R223Q	possibly damaging	Het
Siglecf	C	A	7: 43,001,696 (GRCm39)	P169T	probably damaging	Het
Smpdl3b	G	A	4: 132,484,438 (GRCm39)		probably benign	Het
Syt2	G	A	1: 134,671,773 (GRCm39)	V184I	possibly damaging	Het
Tecta	G	T	9: 42,250,238 (GRCm39)	N1851K	probably damaging	Het
Thbs2	A	T	17: 14,899,083 (GRCm39)	S672R	probably damaging	Het
Tmtc4	T	C	14: 123,170,815 (GRCm39)	H485R	probably damaging	Het
Tns1	A	T	1: 74,029,553 (GRCm39)	S307R	probably damaging	Het
Usp15	C	A	10: 122,999,522 (GRCm39)	W220L	probably damaging	Het
Zfp64	A	T	2: 168,768,118 (GRCm39)	V498E	probably damaging	Het
Zfp820	G	T	17: 22,038,577 (GRCm39)	S250R	probably benign	Het
Zfr2	A	T	10: 81,069,580 (GRCm39)	N2I	unknown	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
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
R9762:Pnp2	UTSW	14	51,197,006 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTAGCGGCAGAGCACTTGAG -3'
(R):5'- AGCCAGTACCTGTGCTTTGG -3'

Sequencing Primer
(F):5'- GGCCATCAGTGAAAACAGGCTTTC -3'
(R):5'- CAGTACCTGTGCTTTGGGGAAAG -3'

Posted On

2022-08-09