Mutagenetix > Incidental Mutation

Incidental Mutation 'R6431:Pnp'

518560

Institutional Source

Beutler Lab

Gene Symbol

Pnp

Ensembl Gene

ENSMUSG00000115338

Gene Name

purine-nucleoside phosphorylase

Synonyms

Np, Np-2, Pnp1, Np-1, Pnp

MMRRC Submission

044569-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R6431 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51181760-51190869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51188471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 237 (D237V)

Ref Sequence

ENSEMBL: ENSMUSP00000154171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048615] [ENSMUST00000095925] [ENSMUST00000178092] [ENSMUST00000226871] [ENSMUST00000227052]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048615
AA Change: D215V

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

SMART Domains

Protein: ENSMUSP00000043926
Gene: ENSMUSG00000115338
AA Change: D215V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000095925

SMART Domains

Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178092
AA Change: D215V

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

SMART Domains

Protein: ENSMUSP00000136557
Gene: ENSMUSG00000115338
AA Change: D215V

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: ENSMUST00000226871

Predicted Effect

probably damaging
Transcript: ENSMUST00000227052
AA Change: D237V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228712

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 93.9%

Validation Efficiency

100% (68/68)

MGI Phenotype

PHENOTYPE: Nullizygous mice show impaired thymocyte differentiation, T cell function and mitochondrial DNA repair, altered lymphocyte subpopulations and metabolism, and enhanced thymocyte apoptosis and sensitivity to gamma-irradiation. ENU-induced mutants show a gradual decline in T cell number and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	A	G	16: 35,099,607 (GRCm39)	E719G	probably damaging	Het
Ankdd1a	A	G	9: 65,424,220 (GRCm39)	M31T	possibly damaging	Het
Atp13a5	T	C	16: 29,070,154 (GRCm39)	K911E	possibly damaging	Het
Bpifb3	G	T	2: 153,766,728 (GRCm39)	L210F	probably damaging	Het
Cacna1c	T	C	6: 118,728,334 (GRCm39)	Y211C	probably damaging	Het
Carm1	C	A	9: 21,494,373 (GRCm39)	P297T	probably damaging	Het
Cdh19	A	T	1: 110,852,787 (GRCm39)	Y383N	probably benign	Het
Cfap221	T	C	1: 119,860,583 (GRCm39)	H681R	probably damaging	Het
Cmya5	A	C	13: 93,210,972 (GRCm39)	S3274A	possibly damaging	Het
Cndp2	T	A	18: 84,693,203 (GRCm39)	K186*	probably null	Het
Ctdp1	G	T	18: 80,494,470 (GRCm39)	F310L	probably damaging	Het
Cyp2c55	A	T	19: 39,019,853 (GRCm39)	I264F	probably damaging	Het
Dhx40	A	T	11: 86,664,649 (GRCm39)	F628I	probably damaging	Het
Disc1	T	A	8: 125,862,128 (GRCm39)	M500K	possibly damaging	Het
Dnah5	A	C	15: 28,349,970 (GRCm39)	D2551A	possibly damaging	Het
Esyt1	A	G	10: 128,352,543 (GRCm39)		probably null	Het
Fam78a	T	C	2: 31,972,843 (GRCm39)	S26G	probably damaging	Het
Fn1	G	A	1: 71,687,003 (GRCm39)		probably null	Het
Gbx1	T	C	5: 24,709,916 (GRCm39)	T310A	probably benign	Het
Ggh	T	A	4: 20,042,219 (GRCm39)	C16S	unknown	Het
Gm11595	T	A	11: 99,663,600 (GRCm39)	T27S	unknown	Het
Gm17334	T	A	11: 53,663,564 (GRCm39)		probably benign	Het
Gsk3b	A	G	16: 38,014,311 (GRCm39)	I256M	probably damaging	Het
Hmcn1	A	T	1: 150,620,711 (GRCm39)	S1166R	probably benign	Het
Hyou1	T	C	9: 44,293,322 (GRCm39)		probably null	Het
Jup	G	T	11: 100,265,167 (GRCm39)	R637S	probably benign	Het
Lama2	T	A	10: 26,929,027 (GRCm39)	I2087F	possibly damaging	Het
Lamc1	T	G	1: 153,097,417 (GRCm39)	K1542N	probably benign	Het
Lgals4	G	T	7: 28,540,117 (GRCm39)			Het
Lrrc8d	A	G	5: 105,959,626 (GRCm39)	D12G	probably damaging	Het
Lrwd1	C	T	5: 136,161,888 (GRCm39)	V207M	possibly damaging	Het
Mbd1	T	A	18: 74,406,762 (GRCm39)		probably null	Het
Msi1	T	A	5: 115,588,984 (GRCm39)	I333N	probably damaging	Het
Neo1	C	T	9: 58,814,354 (GRCm39)	V871I	probably benign	Het
Nr2c1	T	C	10: 94,024,078 (GRCm39)	C428R	probably damaging	Het
Ntm	A	G	9: 29,322,978 (GRCm39)	L14P	probably damaging	Het
Nxpe4	A	T	9: 48,304,145 (GRCm39)	K77N	probably damaging	Het
Or1p1c	A	C	11: 74,160,235 (GRCm39)	T7P	possibly damaging	Het
Or4c119	T	A	2: 88,987,505 (GRCm39)	S5C	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,001 (GRCm39)	M132K	probably damaging	Het
Or8g30	T	C	9: 39,230,074 (GRCm39)	T279A	possibly damaging	Het
Or8k18	G	A	2: 86,085,702 (GRCm39)	L112F	probably benign	Het
Pappa	T	A	4: 65,074,701 (GRCm39)	D418E	probably damaging	Het
Pde4d	G	A	13: 109,738,320 (GRCm39)		probably null	Het
Pip	A	G	6: 41,828,391 (GRCm39)	N75S	possibly damaging	Het
Plcl1	G	C	1: 55,736,411 (GRCm39)	R584P	probably benign	Het
Ppp1r12a	T	C	10: 108,098,281 (GRCm39)	W857R	probably damaging	Het
Pramel13	T	C	4: 144,119,653 (GRCm39)	T305A	possibly damaging	Het
Ptchd3	A	T	11: 121,727,229 (GRCm39)	M368L	probably benign	Het
Pum1	T	A	4: 130,501,816 (GRCm39)	S868R	probably damaging	Het
R3hdml	A	T	2: 163,344,324 (GRCm39)	S238C	probably damaging	Het
Robo2	G	A	16: 73,843,697 (GRCm39)	R173*	probably null	Het
Sall3	A	G	18: 81,016,402 (GRCm39)	S509P	possibly damaging	Het
Sap130	T	G	18: 31,799,418 (GRCm39)	H298Q	possibly damaging	Het
Selenov	C	A	7: 27,987,458 (GRCm39)	G307C	probably damaging	Het
Setd2	T	A	9: 110,379,453 (GRCm39)	H1089Q	possibly damaging	Het
Setdb2	T	C	14: 59,656,505 (GRCm39)	N287D	probably damaging	Het
Sis	C	T	3: 72,865,507 (GRCm39)	V182I	probably benign	Het
Slc32a1	A	C	2: 158,453,457 (GRCm39)	D99A	probably benign	Het
Slk	A	G	19: 47,609,327 (GRCm39)	D760G	probably damaging	Het
Smg5	T	A	3: 88,258,527 (GRCm39)	D499E	probably benign	Het
Spata31e2	T	A	1: 26,723,111 (GRCm39)	N690Y	probably benign	Het
Stat3	T	C	11: 100,780,400 (GRCm39)	T720A	possibly damaging	Het
Trdn	T	G	10: 33,015,110 (GRCm39)	N21K	probably damaging	Het
Trpm4	A	T	7: 44,975,992 (GRCm39)	V118E	possibly damaging	Het
Vgll3	A	G	16: 65,612,640 (GRCm39)	Q41R	probably damaging	Het
Vmn1r189	A	G	13: 22,286,525 (GRCm39)	V104A	probably damaging	Het
Vmn1r46	A	T	6: 89,953,389 (GRCm39)	R79S	probably benign	Het
Zscan4c	T	C	7: 10,740,856 (GRCm39)	M125T	probably benign	Het

Other mutations in Pnp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Pnp	APN	14	51,188,459 (GRCm39)	missense	probably benign
IGL01824:Pnp	APN	14	51,188,870 (GRCm39)	missense	probably damaging	1.00
IGL02649:Pnp	APN	14	51,185,303 (GRCm39)	splice site	probably benign
IGL03148:Pnp	APN	14	51,188,185 (GRCm39)	splice site	probably benign
Porch	UTSW	14	51,188,380 (GRCm39)	nonsense	probably null
porch2	UTSW	14	51,188,963 (GRCm39)	nonsense	probably null
R0097:Pnp	UTSW	14	51,188,873 (GRCm39)	missense	probably damaging	1.00
R1510:Pnp	UTSW	14	51,188,042 (GRCm39)	missense	possibly damaging	0.80
R1823:Pnp	UTSW	14	51,187,786 (GRCm39)	missense	probably damaging	1.00
R1864:Pnp	UTSW	14	51,185,430 (GRCm39)	missense	probably benign	0.00
R3429:Pnp	UTSW	14	51,185,443 (GRCm39)	missense	probably benign	0.10
R4639:Pnp	UTSW	14	51,188,380 (GRCm39)	nonsense	probably null
R5078:Pnp	UTSW	14	51,188,963 (GRCm39)	nonsense	probably null
R5982:Pnp	UTSW	14	51,188,000 (GRCm39)	missense	probably damaging	1.00
R7016:Pnp	UTSW	14	51,187,706 (GRCm39)	splice site	probably null
R7249:Pnp	UTSW	14	51,188,887 (GRCm39)	missense	probably benign	0.11
R7302:Pnp	UTSW	14	51,188,404 (GRCm39)	missense	probably damaging	0.96
R7717:Pnp	UTSW	14	51,188,460 (GRCm39)	missense	probably benign	0.00
R8348:Pnp	UTSW	14	51,185,356 (GRCm39)	missense	probably benign
R8448:Pnp	UTSW	14	51,185,356 (GRCm39)	missense	probably benign
R8879:Pnp	UTSW	14	51,188,177 (GRCm39)	critical splice donor site	probably null
R9444:Pnp	UTSW	14	51,188,052 (GRCm39)	missense	probably damaging	1.00
R9503:Pnp	UTSW	14	51,188,423 (GRCm39)	missense	probably benign	0.00
Z1088:Pnp	UTSW	14	51,188,952 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCTGAGATAATCCCACCTGTGTTC -3'
(R):5'- TCTTGCAGCCACAGGTAGAG -3'

Sequencing Primer
(F):5'- TTTGGAGTTCGTTTTCCTGCCATG -3'
(R):5'- AGAGAAGGTGGCTGTACTTACATTC -3'

Posted On

2018-05-24