Mutagenetix > Incidental Mutation

Incidental Mutation 'R5951:Paox'

470887

Institutional Source

Beutler Lab

Gene Symbol

Paox

Ensembl Gene

ENSMUSG00000025464

Gene Name

polyamine oxidase (exo-N4-amino)

Synonyms

Pao, 2410012F02Rik

MMRRC Submission

044141-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R5951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139693182-139714249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139707567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 130 (C130Y)

Ref Sequence

ENSEMBL: ENSMUSP00000147545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026537] [ENSMUST00000097967] [ENSMUST00000211757]

AlphaFold

Q8C0L6

Predicted Effect

probably damaging
Transcript: ENSMUST00000026537
AA Change: C265Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026537
Gene: ENSMUSG00000025464
AA Change: C265Y

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	10	79	4.1e-14	PFAM
Pfam:Amino_oxidase	15	490	4.9e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097967

SMART Domains

Protein: ENSMUSP00000095580
Gene: ENSMUSG00000025464

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	10	77	1.4e-8	PFAM
Pfam:Amino_oxidase	52	260	1.5e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210240

Predicted Effect

probably damaging
Transcript: ENSMUST00000211757
AA Change: C130Y

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

Meta Mutation Damage Score

0.8252

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,811 (GRCm39)	E180D	probably damaging	Het
Add3	A	G	19: 53,232,720 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,590,620 (GRCm39)	I4396N	probably damaging	Het
Apc	C	T	18: 34,450,199 (GRCm39)	S2331L	possibly damaging	Het
Apoh	G	T	11: 108,286,729 (GRCm39)	C51F	probably damaging	Het
Arid4b	T	C	13: 14,317,648 (GRCm39)	V177A	possibly damaging	Het
Atp13a1	T	A	8: 70,249,935 (GRCm39)	I343N	probably damaging	Het
Bcar1	T	C	8: 112,440,032 (GRCm39)	D654G	probably benign	Het
Brox	T	C	1: 183,064,072 (GRCm39)	K245R	probably damaging	Het
Ccdc146	A	T	5: 21,524,577 (GRCm39)	S258R	possibly damaging	Het
Ccdc169	A	C	3: 55,047,562 (GRCm39)	K18Q	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Crot	C	A	5: 9,019,120 (GRCm39)	E478*	probably null	Het
Dgkq	A	T	5: 108,802,236 (GRCm39)	M443K	probably damaging	Het
Dhx32	A	T	7: 133,339,057 (GRCm39)	L326Q	probably damaging	Het
Dtwd1	A	G	2: 126,000,342 (GRCm39)	I93V	probably benign	Het
Ehmt2	C	T	17: 35,118,357 (GRCm39)	T44I	probably benign	Het
Enc1	T	C	13: 97,381,765 (GRCm39)	S92P	probably benign	Het
Epha5	T	C	5: 84,479,051 (GRCm39)		probably benign	Het
Eya4	T	A	10: 23,031,892 (GRCm39)	S244C	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Fscn3	A	T	6: 28,436,173 (GRCm39)	I490F	possibly damaging	Het
Galntl6	A	G	8: 58,415,436 (GRCm39)	V239A	probably benign	Het
Glg1	T	C	8: 111,892,323 (GRCm39)	I841V	possibly damaging	Het
Gm15455	T	C	1: 33,876,893 (GRCm39)		noncoding transcript	Het
Gpd1l	C	T	9: 114,743,473 (GRCm39)	M142I	probably benign	Het
Helb	A	G	10: 119,927,653 (GRCm39)	V819A	possibly damaging	Het
Hnrnpul2	T	G	19: 8,802,255 (GRCm39)	F374C	probably damaging	Het
Hoxc10	G	A	15: 102,875,753 (GRCm39)	S154N	possibly damaging	Het
Ice2	A	T	9: 69,319,651 (GRCm39)	T367S	possibly damaging	Het
Iqca1	A	T	1: 90,067,819 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Klhl14	T	A	18: 21,784,677 (GRCm39)	H250L	probably damaging	Het
Kmt2c	A	T	5: 25,535,801 (GRCm39)	D1447E	probably benign	Het
Larp1	G	T	11: 57,940,765 (GRCm39)	M630I	probably benign	Het
Lrp2	A	G	2: 69,326,667 (GRCm39)		probably null	Het
Map4k3	G	T	17: 80,911,427 (GRCm39)	Q673K	probably benign	Het
Mettl16	A	G	11: 74,686,823 (GRCm39)	N201D	possibly damaging	Het
Mrpl15	C	A	1: 4,855,956 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,998,222 (GRCm39)	V655D	probably damaging	Het
Odf1	T	C	15: 38,226,531 (GRCm39)	Y144H	probably damaging	Het
Or2f1b	G	T	6: 42,739,493 (GRCm39)	C169F	probably damaging	Het
Or5t5	G	T	2: 86,616,571 (GRCm39)	V166L	probably benign	Het
Padi1	T	C	4: 140,542,140 (GRCm39)	Y594C	probably damaging	Het
Palm3	T	A	8: 84,756,049 (GRCm39)	D520E	probably benign	Het
Parpbp	T	A	10: 87,975,769 (GRCm39)	S115C	probably damaging	Het
Pcnx3	A	G	19: 5,721,708 (GRCm39)	V1438A	possibly damaging	Het
Pdlim2	T	A	14: 70,405,229 (GRCm39)	D212V	probably benign	Het
Pi4ka	A	G	16: 17,121,006 (GRCm39)	F53L	probably damaging	Het
Pik3c2a	A	T	7: 115,967,419 (GRCm39)	D839E	probably damaging	Het
Pou2f1	T	C	1: 165,710,625 (GRCm39)		probably benign	Het
Ppl	A	T	16: 4,906,492 (GRCm39)	Y1268N	probably benign	Het
Prelid3a	C	T	18: 67,598,011 (GRCm39)	S6L	probably benign	Het
Ptk2	T	G	15: 73,175,682 (GRCm39)	D285A	possibly damaging	Het
Rasd2	T	G	8: 75,948,811 (GRCm39)	Y246D	probably damaging	Het
Rhbdl2	A	G	4: 123,708,120 (GRCm39)	T110A	probably benign	Het
Rhobtb1	T	A	10: 69,106,085 (GRCm39)	F217I	probably damaging	Het
Serhl	T	C	15: 82,987,237 (GRCm39)		probably benign	Het
Sh3tc2	A	G	18: 62,123,078 (GRCm39)	E613G	probably damaging	Het
Slc26a3	A	G	12: 31,502,714 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,025,769 (GRCm39)	I110T	probably benign	Het
Syde1	C	A	10: 78,425,150 (GRCm39)	R287L	possibly damaging	Het
Tmem184c	C	T	8: 78,325,291 (GRCm39)		probably null	Het
Trmt44	C	A	5: 35,730,032 (GRCm39)		probably benign	Het
Ttbk2	G	T	2: 120,603,764 (GRCm39)	S256R	probably benign	Het
Ttll6	A	T	11: 96,036,336 (GRCm39)	I322F	probably damaging	Het
Ubap2	A	T	4: 41,205,753 (GRCm39)		probably null	Het
Wsb2	A	T	5: 117,515,600 (GRCm39)	T402S	probably damaging	Het

Other mutations in Paox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0084:Paox	UTSW	7	139,712,359 (GRCm39)	nonsense	probably null
R0140:Paox	UTSW	7	139,713,971 (GRCm39)	missense	probably damaging	1.00
R0285:Paox	UTSW	7	139,709,053 (GRCm39)	missense	probably damaging	1.00
R0464:Paox	UTSW	7	139,709,195 (GRCm39)	unclassified	probably benign
R0546:Paox	UTSW	7	139,711,591 (GRCm39)	missense	probably damaging	1.00
R0733:Paox	UTSW	7	139,707,440 (GRCm39)	missense	probably damaging	0.99
R0926:Paox	UTSW	7	139,713,951 (GRCm39)	missense	probably damaging	1.00
R1169:Paox	UTSW	7	139,706,244 (GRCm39)	missense	probably benign	0.04
R1466:Paox	UTSW	7	139,709,194 (GRCm39)	unclassified	probably benign
R2260:Paox	UTSW	7	139,713,967 (GRCm39)	nonsense	probably null
R4172:Paox	UTSW	7	139,713,941 (GRCm39)	missense	probably damaging	1.00
R5914:Paox	UTSW	7	139,709,101 (GRCm39)	missense	probably damaging	1.00
R5960:Paox	UTSW	7	139,712,402 (GRCm39)	missense	probably benign	0.26
R6019:Paox	UTSW	7	139,711,655 (GRCm39)	missense	probably damaging	0.99
R6583:Paox	UTSW	7	139,706,291 (GRCm39)	missense	probably damaging	1.00
R8986:Paox	UTSW	7	139,706,503 (GRCm39)	missense	probably benign	0.03
R9708:Paox	UTSW	7	139,712,359 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCCAGGGCCTGTTTCACAG -3'
(R):5'- ATGGTGGAGTACTTTTATTCACCTG -3'

Sequencing Primer
(F):5'- GTTTCACAGACACATCAACTTCTG -3'
(R):5'- CACCTGGAGATCCTTAGCATG -3'

Posted On

2017-03-31