Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02418:Pnp2'

292519

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: 0.129) question?

Stock #

IGL02418

Quality Score

Status

Chromosome

Chromosomal Location

51193598-51202206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51201293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 222 (R222C)

Ref Sequence

ENSEMBL: ENSMUSP00000093615 (fasta)

Gene Model

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

AlphaFold

Q9D8C9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095925
AA Change: R222C

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: R222C

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,424,479 (GRCm39)		probably benign	Het
Acsbg2	A	G	17: 57,156,730 (GRCm39)	V436A	probably benign	Het
Afap1l1	T	C	18: 61,885,648 (GRCm39)	D156G	probably damaging	Het
Arhgap21	G	A	2: 20,885,711 (GRCm39)	R489C	probably damaging	Het
Arhgap26	G	A	18: 39,490,620 (GRCm39)		probably benign	Het
Bbs5	T	G	2: 69,485,849 (GRCm39)	*89G	probably null	Het
Ceacam5	A	T	7: 17,493,359 (GRCm39)	Y794F	possibly damaging	Het
Ces3b	T	C	8: 105,812,279 (GRCm39)	V176A	probably damaging	Het
Cfi	A	G	3: 129,642,461 (GRCm39)	H105R	probably benign	Het
Chat	C	T	14: 32,168,906 (GRCm39)	V210I	possibly damaging	Het
Chd1l	A	G	3: 97,488,415 (GRCm39)	S534P	probably benign	Het
Cyb5rl	T	C	4: 106,928,182 (GRCm39)	L106P	probably damaging	Het
Cyp21a1	A	G	17: 35,023,162 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,495,679 (GRCm39)	C1436R	probably damaging	Het
Flg2	T	A	3: 93,108,361 (GRCm39)	F130I	probably benign	Het
Fryl	T	A	5: 73,267,519 (GRCm39)		probably benign	Het
Galnt10	T	C	11: 57,671,994 (GRCm39)	V428A	probably benign	Het
Ganab	A	G	19: 8,888,433 (GRCm39)	D496G	probably null	Het
Gapvd1	T	C	2: 34,620,530 (GRCm39)	T44A	probably benign	Het
Gm17093	T	A	14: 44,758,185 (GRCm39)	M122K	unknown	Het
Gm5356	A	T	8: 89,914,064 (GRCm39)		noncoding transcript	Het
Gmppa	G	T	1: 75,415,664 (GRCm39)	G126C	probably damaging	Het
Il23r	T	C	6: 67,467,656 (GRCm39)	H37R	possibly damaging	Het
Itga11	A	G	9: 62,651,914 (GRCm39)	I349V	probably benign	Het
Lrrc42	A	T	4: 107,100,533 (GRCm39)	Y159*	probably null	Het
Naa16	C	A	14: 79,620,806 (GRCm39)	R57L	probably damaging	Het
Ntmt2	A	T	1: 163,530,725 (GRCm39)	V238E	probably damaging	Het
Or8g4	A	G	9: 39,661,787 (GRCm39)	Y35C	probably damaging	Het
Oxtr	A	T	6: 112,454,200 (GRCm39)	H21Q	probably damaging	Het
Paqr7	A	G	4: 134,234,284 (GRCm39)	Y47C	probably damaging	Het
Paxbp1	A	C	16: 90,831,000 (GRCm39)	C459G	probably damaging	Het
Rtl1	T	C	12: 109,556,883 (GRCm39)	D1652G	probably damaging	Het
Saxo5	T	A	8: 3,526,080 (GRCm39)	F78I	probably damaging	Het
Shoc1	A	T	4: 59,049,075 (GRCm39)		probably benign	Het
Spata4	C	A	8: 55,062,978 (GRCm39)	N294K	probably benign	Het
Tcp11l2	T	A	10: 84,449,470 (GRCm39)	Y478*	probably null	Het
Tcte1	T	A	17: 45,852,128 (GRCm39)	S454T	probably benign	Het
Thsd4	C	T	9: 60,335,598 (GRCm39)	V105I	probably damaging	Het
Tmem117	T	A	15: 94,829,765 (GRCm39)	I200N	probably benign	Het
Tpgs1	G	A	10: 79,505,289 (GRCm39)	V16M	probably benign	Het
Ttn	G	T	2: 76,797,447 (GRCm39)	T539K	probably benign	Het
Usp24	A	G	4: 106,293,557 (GRCm39)	S2542G	probably benign	Het
Vmn2r44	A	T	7: 8,380,864 (GRCm39)	L343H	probably damaging	Het
Zmat2	T	A	18: 36,927,392 (GRCm39)	Y21N	probably damaging	Het
Zyx	C	T	6: 42,334,327 (GRCm39)	A517V	probably damaging	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
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
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

Posted On

2015-04-16