Mutagenetix > Incidental Mutation

Incidental Mutation 'R5636:Pnp2'

440389

Institutional Source

Beutler Lab

Gene Symbol

Pnp2

Ensembl Gene

ENSMUSG00000068417

Gene Name

purine-nucleoside phosphorylase 2

Synonyms

MMRRC Submission

043287-MU

Accession Numbers

Essential gene?

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

Stock #

R5636 (G1)

Quality Score

140

Status

Not validated

Chromosome

Chromosomal Location

51193598-51202206 bp(+) (GRCm39)

Type of Mutation

splice site (4355 bp from exon)

DNA Base Change (assembly)

A to G at 51193649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048615] [ENSMUST00000095925] [ENSMUST00000178092] [ENSMUST00000227052]

AlphaFold

Q9D8C9

Predicted Effect

probably null
Transcript: ENSMUST00000048615

SMART Domains

Protein: ENSMUSP00000043926
Gene: ENSMUSG00000115338

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	26	280	5.2e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095925
AA Change: D7G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: D7G

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	41	295	4.9e-56	PFAM

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000194838

Predicted Effect

probably benign
Transcript: ENSMUST00000227052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228593

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,922,382 (GRCm39)	Q448*	probably null	Het
Abca5	A	G	11: 110,192,362 (GRCm39)	Y717H	probably benign	Het
Abcg2	T	A	6: 58,649,041 (GRCm39)	D295E	probably damaging	Het
Accsl	C	T	2: 93,699,370 (GRCm39)	E7K	probably benign	Het
Acvr2b	A	G	9: 119,257,375 (GRCm39)	Y152C	probably damaging	Het
Akap13	A	G	7: 75,354,120 (GRCm39)	E1747G	probably damaging	Het
Arpp19	C	T	9: 74,945,215 (GRCm39)		probably benign	Het
Atp10d	A	G	5: 72,445,562 (GRCm39)	Y74C	probably damaging	Het
Atp6v0b	T	C	4: 117,743,582 (GRCm39)		probably benign	Het
Bms1	C	A	6: 118,365,786 (GRCm39)	M1133I	probably benign	Het
Bysl	A	C	17: 47,913,648 (GRCm39)	D259E	probably benign	Het
Capn1	A	T	19: 6,064,472 (GRCm39)	V9E	probably benign	Het
Cdkl2	T	C	5: 92,181,601 (GRCm39)	I127V	probably benign	Het
Cyp2c38	G	A	19: 39,426,750 (GRCm39)	Q184*	probably null	Het
Cypt12	C	T	3: 18,002,749 (GRCm39)	R41C	probably benign	Het
Dnaaf11	A	T	15: 66,372,665 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,173,307 (GRCm39)	I2469V	probably damaging	Het
Fbxo38	A	G	18: 62,644,089 (GRCm39)	V923A	possibly damaging	Het
Gm13889	A	G	2: 93,787,031 (GRCm39)	C148R	probably damaging	Het
Gpd1	A	T	15: 99,619,939 (GRCm39)	T223S	probably benign	Het
Hcrtr1	C	A	4: 130,024,738 (GRCm39)	G383C	possibly damaging	Het
Hivep1	C	T	13: 42,316,932 (GRCm39)	P2047S	possibly damaging	Het
Islr2	T	C	9: 58,108,584 (GRCm39)	T35A	probably benign	Het
Lgr6	T	C	1: 134,914,816 (GRCm39)	D644G	probably benign	Het
Mdn1	C	T	4: 32,695,480 (GRCm39)	T1173I	probably damaging	Het
Mon1a	T	C	9: 107,778,439 (GRCm39)	V221A	probably damaging	Het
Mrgprb4	A	G	7: 47,848,218 (GRCm39)	C237R	probably benign	Het
Myo1b	A	G	1: 51,836,687 (GRCm39)	M264T	probably damaging	Het
Naxd	A	G	8: 11,552,676 (GRCm39)	N32S	probably benign	Het
Nlrp12	A	T	7: 3,273,926 (GRCm39)	L1010Q	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nuggc	A	T	14: 65,885,637 (GRCm39)	K755*	probably null	Het
Or2av9	T	C	11: 58,380,877 (GRCm39)	K235E	probably damaging	Het
Or9i2	C	T	19: 13,815,701 (GRCm39)	V279M	possibly damaging	Het
Pik3ca	G	A	3: 32,515,709 (GRCm39)	R794Q	probably damaging	Het
Ric3	G	A	7: 108,638,027 (GRCm39)	T242I	probably damaging	Het
Rnf213	A	C	11: 119,327,731 (GRCm39)	Q1906P	probably damaging	Het
Rnf213	G	A	11: 119,327,455 (GRCm39)	R1814K	probably benign	Het
Rufy2	T	A	10: 62,833,733 (GRCm39)	I265N	probably damaging	Het
Scap	G	T	9: 110,209,662 (GRCm39)	G744C	probably damaging	Het
Serpinb3c	T	C	1: 107,202,744 (GRCm39)	Q88R	possibly damaging	Het
Sf3b1	T	C	1: 55,036,352 (GRCm39)	D907G	probably damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc4a3	C	T	1: 75,530,860 (GRCm39)	L749F	possibly damaging	Het
Smtn	T	G	11: 3,467,829 (GRCm39)		probably null	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sptbn5	G	A	2: 119,887,885 (GRCm39)		probably benign	Het
Stam	G	T	2: 14,122,238 (GRCm39)	M112I	probably damaging	Het
Tex35	C	T	1: 156,927,794 (GRCm39)	W125*	probably null	Het
Tmem215	A	G	4: 40,474,394 (GRCm39)	E157G	probably damaging	Het
Traf6	G	A	2: 101,527,254 (GRCm39)	V335M	probably benign	Het
Ubr5	T	A	15: 37,984,240 (GRCm39)	K2302N	probably damaging	Het
Vmn2r78	A	G	7: 86,603,637 (GRCm39)	H605R	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
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
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'- TGGCCTTAGACTAGGAGTGGATC -3'
(R):5'- TTCTGGAGCCCTATGTCTGC -3'

Sequencing Primer
(F):5'- CTCTTTGAAATGAACTCTGGAGAGG -3'
(R):5'- GAGCCCTATGTCTGCCACTG -3'

Posted On

2016-11-08