Mutagenetix > Incidental Mutation

Incidental Mutation 'R9444:Pnp'

713834

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R9444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51181760-51190869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51188052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 113 (V113A)

Ref Sequence

ENSEMBL: ENSMUSP00000043926 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048615
AA Change: V113A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043926
Gene: ENSMUSG00000115338
AA Change: V113A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178092
AA Change: V113A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136557
Gene: ENSMUSG00000115338
AA Change: V113A

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	26	280	2e-54	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226871
AA Change: V113A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227052
AA Change: V135A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,854,724 (GRCm39)	D106G	probably damaging	Het
Acacb	T	C	5: 114,384,020 (GRCm39)	I2183T	probably damaging	Het
Adam17	A	C	12: 21,375,536 (GRCm39)	L761R	probably benign	Het
Apobr	A	G	7: 126,185,140 (GRCm39)	D217G	probably benign	Het
Arhgap12	A	T	18: 6,052,909 (GRCm39)	Y434*	probably null	Het
Brwd1	T	C	16: 95,855,180 (GRCm39)	D416G	possibly damaging	Het
C1qtnf2	T	C	11: 43,376,661 (GRCm39)	I11T	probably damaging	Het
C1qtnf6	C	T	15: 78,411,544 (GRCm39)	C44Y	probably damaging	Het
Cacna1d	A	C	14: 29,829,741 (GRCm39)		probably null	Het
Card11	T	A	5: 140,894,393 (GRCm39)	I79F	probably damaging	Het
Chuk	T	C	19: 44,075,385 (GRCm39)	D490G		Het
Cilp2	T	C	8: 70,335,546 (GRCm39)	D484G	probably damaging	Het
Col8a1	C	A	16: 57,448,455 (GRCm39)	G352*	probably null	Het
Csmd1	A	G	8: 16,208,250 (GRCm39)	F1235S	probably benign	Het
Dop1b	T	A	16: 93,607,127 (GRCm39)	D2260E	probably benign	Het
Drd2	T	C	9: 49,318,347 (GRCm39)	F430L	probably damaging	Het
Fbxl17	A	T	17: 63,778,455 (GRCm39)	I485K	probably damaging	Het
Frem2	A	G	3: 53,560,265 (GRCm39)	V1414A	probably benign	Het
Galnt13	C	A	2: 55,002,928 (GRCm39)	S578R	probably benign	Het
Gfra2	T	A	14: 71,203,751 (GRCm39)	M300K	possibly damaging	Het
Gm12695	C	T	4: 96,612,195 (GRCm39)	A523T	probably damaging	Het
Gm19965	T	C	1: 116,732,393 (GRCm39)	S79P		Het
Hsf1	T	C	15: 76,384,769 (GRCm39)	S487P	probably damaging	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Jag1	A	C	2: 136,936,397 (GRCm39)	W366G	probably damaging	Het
Larp4	T	C	15: 99,909,807 (GRCm39)	S638P	probably benign	Het
Lipm	A	G	19: 34,098,690 (GRCm39)	D388G	probably damaging	Het
Lrp1b	T	A	2: 41,013,730 (GRCm39)	Y1925F		Het
Lrrc37	G	A	11: 103,508,846 (GRCm39)	Q1041*	probably null	Het
Mchr1	T	C	15: 81,121,919 (GRCm39)	V223A	possibly damaging	Het
Mfrp	T	A	9: 44,017,440 (GRCm39)	I505N	probably damaging	Het
Msc	T	C	1: 14,825,714 (GRCm39)	K87E	probably damaging	Het
Myo7a	A	G	7: 97,742,698 (GRCm39)	F433L	possibly damaging	Het
Ncapg2	G	A	12: 116,370,863 (GRCm39)	R4H	probably damaging	Het
Ntrk3	G	A	7: 78,110,805 (GRCm39)	L299F	probably damaging	Het
Nup210	T	A	6: 91,048,885 (GRCm39)	Y457F	probably benign	Het
Or4k15c	T	C	14: 50,321,869 (GRCm39)	K90E		Het
Or4k48	T	C	2: 111,476,132 (GRCm39)	D70G	probably damaging	Het
Or5h18	T	C	16: 58,848,018 (GRCm39)	D84G	probably benign	Het
Or5t18	T	A	2: 86,636,486 (GRCm39)	I286F		Het
Or8g32	A	G	9: 39,305,365 (GRCm39)	N90D	probably benign	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,893,841 (GRCm39)		probably benign	Het
Pcdh15	A	G	10: 74,478,176 (GRCm39)	Y217C	probably damaging	Het
Pde6h	T	G	6: 136,936,359 (GRCm39)	F34C	probably damaging	Het
Pkhd1l1	A	G	15: 44,418,053 (GRCm39)	E2903G	probably benign	Het
Prss35	A	G	9: 86,638,157 (GRCm39)	D309G	probably damaging	Het
Pzp	T	C	6: 128,487,362 (GRCm39)	R501G		Het
Rfx8	A	T	1: 39,709,476 (GRCm39)	V517D	probably damaging	Het
Rnf213	A	G	11: 119,325,623 (GRCm39)	Y1509C		Het
Rtp4	T	C	16: 23,431,836 (GRCm39)	Y123H	probably benign	Het
Sema3e	A	G	5: 14,302,625 (GRCm39)	I717V	possibly damaging	Het
Stap2	A	T	17: 56,307,907 (GRCm39)	V150E	possibly damaging	Het
Stard9	C	A	2: 120,495,414 (GRCm39)	N96K	probably damaging	Het
Stoml2	T	C	4: 43,030,442 (GRCm39)	T93A	probably damaging	Het
Suclg2	T	C	6: 95,543,474 (GRCm39)	D319G	probably damaging	Het
Tcf12	C	T	9: 72,018,040 (GRCm39)	D19N	probably damaging	Het
Tcp10c	T	A	17: 13,581,503 (GRCm39)		probably null	Het
Tll1	T	C	8: 64,469,123 (GRCm39)	Y1000C	probably damaging	Het
Trappc10	G	T	10: 78,033,612 (GRCm39)	T985N	probably benign	Het
Trpc7	T	A	13: 56,923,968 (GRCm39)	K794M	possibly damaging	Het
Unc5c	G	T	3: 141,507,209 (GRCm39)		probably null	Het
Upf2	T	A	2: 6,023,755 (GRCm39)	C702S	unknown	Het
Wdhd1	A	G	14: 47,488,324 (GRCm39)	F728L	possibly damaging	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
R6431:Pnp	UTSW	14	51,188,471 (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
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'- GTCTAACCATTTGGGCTGCTTC -3'
(R):5'- AACACAGGTGGGATTATCTCAG -3'

Sequencing Primer
(F):5'- ACCATTTGGGCTGCTTCAAATTTTTG -3'
(R):5'- GGGATTATCTCAGATAAATGGCACC -3'

Posted On

2022-06-15