Mutagenetix > Incidental Mutation

Incidental Mutation 'R8448:Pnp'

654630

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

067828-MU

Accession Numbers

Essential gene?

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

Stock #

R8448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51181760-51190869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51185356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 20 (H20L)

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 benign
Transcript: ENSMUST00000048615
AA Change: H20L

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

SMART Domains

Protein: ENSMUSP00000043926
Gene: ENSMUSG00000115338
AA Change: H20L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178092
AA Change: H20L

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

SMART Domains

Protein: ENSMUSP00000136557
Gene: ENSMUSG00000115338
AA Change: H20L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226871
AA Change: H20L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227052
AA Change: H42L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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
4933430I17Rik	T	C	4: 62,461,022 (GRCm39)		probably null	Het
Adamts6	T	A	13: 104,616,027 (GRCm39)	C1030S	probably damaging	Het
Adamtsl3	C	A	7: 82,253,007 (GRCm39)	T1527K	possibly damaging	Het
Akap9	G	A	5: 3,998,897 (GRCm39)		probably null	Het
Ankle2	C	A	5: 110,389,909 (GRCm39)	P457T	possibly damaging	Het
Ankrd7	A	G	6: 18,868,007 (GRCm39)	N91S	probably damaging	Het
Ascc3	C	A	10: 50,494,173 (GRCm39)	Q203K	probably benign	Het
Baz2b	A	T	2: 59,742,137 (GRCm39)	D61E		Het
Bmpr1a	T	A	14: 34,136,759 (GRCm39)	K477N	probably benign	Het
Cacna1d	T	C	14: 29,824,364 (GRCm39)	I1040V	probably damaging	Het
Castor2	T	C	5: 134,166,955 (GRCm39)	F304L	possibly damaging	Het
Cdkn2a	C	A	4: 89,200,291 (GRCm39)	V20L	possibly damaging	Het
Chd5	A	G	4: 152,445,173 (GRCm39)	S385G	probably damaging	Het
Cntrob	A	G	11: 69,190,679 (GRCm39)	F46L	unknown	Het
Cth	T	C	3: 157,630,657 (GRCm39)	D4G	probably benign	Het
Cyld	C	T	8: 89,456,197 (GRCm39)	H416Y	probably damaging	Het
Dennd6a	C	A	14: 26,328,098 (GRCm39)	H264Q	possibly damaging	Het
Dnah1	T	C	14: 31,015,682 (GRCm39)	Y1672C	probably damaging	Het
Dnah8	A	G	17: 30,892,814 (GRCm39)	I800V	probably benign	Het
Esrp2	A	G	8: 106,858,853 (GRCm39)	Y595H	probably damaging	Het
F12	T	A	13: 55,566,301 (GRCm39)	Y497F	probably benign	Het
Fggy	A	G	4: 95,732,427 (GRCm39)	T473A	probably benign	Het
Garre1	A	T	7: 33,984,569 (GRCm39)	L18Q	probably damaging	Het
Gstt2	C	A	10: 75,668,526 (GRCm39)	R107L	probably damaging	Het
Hectd4	A	T	5: 121,358,319 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,938,791 (GRCm39)	F561S	probably damaging	Het
Ints2	T	C	11: 86,146,249 (GRCm39)	T120A	probably benign	Het
Kdm5d	G	A	Y: 914,056 (GRCm39)	R331H	probably benign	Het
Krt6b	A	G	15: 101,586,455 (GRCm39)	Y345H	probably damaging	Het
Limch1	A	G	5: 67,159,825 (GRCm39)	K418E	probably damaging	Het
Lrrc37	T	A	11: 103,511,726 (GRCm39)	T81S	unknown	Het
Med17	C	T	9: 15,173,735 (GRCm39)		probably null	Het
Met	A	T	6: 17,571,799 (GRCm39)	I1373F	probably benign	Het
Naip6	T	A	13: 100,436,894 (GRCm39)	Q543L	possibly damaging	Het
Nat9	T	C	11: 115,075,902 (GRCm39)	T40A	probably damaging	Het
Notch4	A	T	17: 34,805,763 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,292,619 (GRCm39)	N455S	probably damaging	Het
Or52k2	C	A	7: 102,254,207 (GRCm39)	F215L	probably benign	Het
Pde4a	T	C	9: 21,117,534 (GRCm39)	F599L	probably benign	Het
Pga5	T	C	19: 10,649,173 (GRCm39)	Y249C	probably damaging	Het
Plekha8	A	T	6: 54,607,539 (GRCm39)	K382M	probably damaging	Het
Plekhd1	A	T	12: 80,753,149 (GRCm39)	E119V	probably damaging	Het
Polq	A	T	16: 36,837,559 (GRCm39)		probably null	Het
Psma3	T	G	12: 71,035,250 (GRCm39)	I177R	probably damaging	Het
Ptpn3	A	G	4: 57,240,784 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,400,806 (GRCm39)	L1077Q	probably damaging	Het
Ralgps2	A	T	1: 156,651,744 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,184,573 (GRCm39)	M10K	possibly damaging	Het
Rere	A	G	4: 150,703,653 (GRCm39)	D186G	probably damaging	Het
Rpl24	T	C	16: 55,787,453 (GRCm39)	S38P	probably damaging	Het
Slco1a1	A	T	6: 141,885,787 (GRCm39)	F79L	possibly damaging	Het
Sorl1	T	A	9: 41,903,041 (GRCm39)	D1551V	probably benign	Het
Sos1	C	A	17: 80,741,548 (GRCm39)	M412I	probably benign	Het
Spast	G	A	17: 74,666,293 (GRCm39)	V209I	probably benign	Het
Spindoc	G	T	19: 7,335,769 (GRCm39)	Q340K	possibly damaging	Het
Tlr6	T	C	5: 65,111,185 (GRCm39)	Y574C	probably damaging	Het
Tnrc6a	A	G	7: 122,791,346 (GRCm39)	N1748S	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,474 (GRCm39)	K16N	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Usp24	A	G	4: 106,225,933 (GRCm39)	D659G	possibly damaging	Het
Vmn2r88	T	A	14: 51,656,253 (GRCm39)	C821S	probably damaging	Het
Whamm	T	A	7: 81,224,295 (GRCm39)	V197D	probably damaging	Het
Zfp777	A	G	6: 48,006,101 (GRCm39)	F431S	probably 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
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'- TTTAGTGGGCCTGATTCAGC -3'
(R):5'- CCTTGATTAGATTCCACATAAGAGCAG -3'

Sequencing Primer
(F):5'- GCCTGATTCAGCAGTAGGC -3'
(R):5'- TGAGGTTTCAGAAGCCCATGC -3'

Posted On

2020-10-20