Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02025:Pnp2'

184133

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pnp2

Ensembl Gene

ENSMUSG00000068417

Gene Name

purine-nucleoside phosphorylase 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL02025

Quality Score

Status

Chromosome

Chromosomal Location

50955992-50964749 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50959553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 32 (L32H)

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: L32H

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

SMART Domains

Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: L32H

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	T	C	18: 61,733,699		probably benign	Het
Akap6	A	G	12: 53,140,335	T1511A	probably benign	Het
Casp8	A	C	1: 58,824,147	I69L	possibly damaging	Het
Cdh23	T	C	10: 60,385,143	E1274G	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Depdc5	A	G	5: 32,946,632		probably null	Het
Dock5	A	G	14: 67,763,287	S1656P	probably damaging	Het
Dock6	A	G	9: 21,809,589	S1707P	probably damaging	Het
Eddm3b	T	A	14: 51,116,771	V72D	probably damaging	Het
Etl4	A	G	2: 20,806,526	D1508G	probably damaging	Het
Gm20489	A	C	X: 101,263,684	V21G	probably damaging	Het
Gm7173	A	T	X: 79,510,430	S230R	probably benign	Het
Il16	T	C	7: 83,652,848	N22S	probably damaging	Het
Ksr1	T	C	11: 79,021,450		probably null	Het
Lrrc32	C	T	7: 98,499,560	R516C	probably benign	Het
Naa25	T	C	5: 121,439,865	V945A	probably damaging	Het
Neb	T	C	2: 52,307,739	T501A	probably benign	Het
Npnt	A	C	3: 132,890,762		probably null	Het
Nr1h5	G	A	3: 102,949,626		probably benign	Het
Olfr12	A	G	1: 92,620,547	I214V	probably benign	Het
Olfr1331	G	A	4: 118,869,165	C127Y	probably damaging	Het
Olfr1361	A	G	13: 21,659,263	V20A	possibly damaging	Het
Opalin	T	C	19: 41,072,235		probably benign	Het
Pls3	A	T	X: 75,796,495	L341H	probably damaging	Het
Prpf40b	T	C	15: 99,314,588	F571S	probably damaging	Het
Prss16	A	G	13: 22,003,021	S460P	probably damaging	Het
Sh3bp4	T	C	1: 89,145,286	S619P	probably benign	Het
Sirpb1b	C	T	3: 15,548,803	R73Q	probably damaging	Het
Slc22a8	G	A	19: 8,594,175	G90E	possibly damaging	Het
Tbc1d2	G	A	4: 46,620,713	R366W	probably damaging	Het
Tns2	T	A	15: 102,112,049	Y783*	probably null	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp7	C	T	15: 76,888,264	S55F	probably damaging	Het

Other mutations in Pnp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07