Mutagenetix > Incidental Mutation

Incidental Mutation 'R6110:Pax2'

484817

Institutional Source

Beutler Lab

Gene Symbol

Pax2

Ensembl Gene

ENSMUSG00000004231

Gene Name

paired box 2

Synonyms

Opdc, Pax-2

MMRRC Submission

044428-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44744484-44826310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44779175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 183 (S183T)

Ref Sequence

ENSEMBL: ENSMUSP00000004340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004340] [ENSMUST00000173346] [ENSMUST00000174490]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000004340
AA Change: S183T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000004340
Gene: ENSMUSG00000004231
AA Change: S183T

Domain	Start	End	E-Value	Type
PAX	15	139	4e-96	SMART
low complexity region	165	177	N/A	INTRINSIC
SCOP:d1ftt__	246	280	1e-4	SMART
Pfam:Pax2_C	300	415	1.1e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173346
AA Change: S188T

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

SMART Domains

Protein: ENSMUSP00000134311
Gene: ENSMUSG00000004231
AA Change: S188T

Domain	Start	End	E-Value	Type
PAX	20	144	2.3e-96	SMART
low complexity region	170	182	N/A	INTRINSIC
SCOP:d1ftt__	220	254	5e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174490
AA Change: S184T

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

SMART Domains

Protein: ENSMUSP00000134661
Gene: ENSMUSG00000004231
AA Change: S184T

Domain	Start	End	E-Value	Type
PAX	16	140	2.3e-96	SMART
low complexity region	166	178	N/A	INTRINSIC
SCOP:d1ftt__	224	258	8e-5	SMART
Pfam:Pax2_C	278	393	6.3e-57	PFAM

Meta Mutation Damage Score

0.2863

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.7%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous targeted and spontaneous null mutants show impaired to absent development of optic nerve, retina, kidney, ureters, genital tracts, inner ear and midhindbrain. Heterozygotes show milder defects of the optic nerve, retina and kidney. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	T	C	4: 56,740,224 (GRCm39)	E378G	probably damaging	Het
Adam17	A	T	12: 21,403,949 (GRCm39)	V99E	probably damaging	Het
Alkal2	G	A	12: 30,937,057 (GRCm39)	R90Q	probably damaging	Het
Amy1	C	T	3: 113,355,549 (GRCm39)	V309M	probably damaging	Het
Apob	T	C	12: 8,061,883 (GRCm39)	L3455P	probably damaging	Het
Ash1l	T	A	3: 88,892,436 (GRCm39)	H1438Q	probably damaging	Het
BC024139	A	G	15: 76,003,996 (GRCm39)	S757P	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
C2cd3	T	A	7: 100,090,283 (GRCm39)	F462Y	probably damaging	Het
C4bp	T	A	1: 130,566,809 (GRCm39)	K177*	probably null	Het
Cacna1h	G	T	17: 25,610,250 (GRCm39)	P752Q	probably benign	Het
Cd34	G	A	1: 194,631,877 (GRCm39)		probably null	Het
Cimap1a	G	T	7: 140,428,554 (GRCm39)	R73L	possibly damaging	Het
Clptm1	G	A	7: 19,367,731 (GRCm39)		probably benign	Het
Dip2c	T	C	13: 9,673,802 (GRCm39)	S1081P	probably damaging	Het
Dnm3	CAGCCTTCGTTGGGTG	C	1: 161,838,637 (GRCm39)		probably benign	Het
Efcab6	T	G	15: 83,763,835 (GRCm39)	M1166L	possibly damaging	Het
Fam151a	G	A	4: 106,605,395 (GRCm39)	V586M	probably damaging	Het
Fap	T	G	2: 62,385,114 (GRCm39)	Y54S	possibly damaging	Het
Grhl1	A	G	12: 24,630,746 (GRCm39)		probably null	Het
Hcrtr2	T	C	9: 76,167,064 (GRCm39)	Y91C	probably damaging	Het
Ift70b	T	C	2: 75,768,144 (GRCm39)	Y203C	probably damaging	Het
Kat6b	C	T	14: 21,720,555 (GRCm39)	R1745C	probably damaging	Het
Kdm5a	T	C	6: 120,389,267 (GRCm39)	L898P	probably damaging	Het
Lipo5	T	C	19: 33,445,317 (GRCm39)	Q84R	unknown	Het
Mfn1	G	A	3: 32,617,173 (GRCm39)	M18I	probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Mtfmt	T	C	9: 65,354,586 (GRCm39)		probably null	Het
Nsun2	C	G	13: 69,775,767 (GRCm39)	Q404E	probably benign	Het
Or1j17	T	C	2: 36,578,559 (GRCm39)	S182P	probably benign	Het
Or2at4	C	T	7: 99,384,377 (GRCm39)	S9L	possibly damaging	Het
Or52d1	A	G	7: 103,755,779 (GRCm39)	M98V	probably damaging	Het
Or5b123	C	T	19: 13,597,249 (GRCm39)	A241V	probably benign	Het
Or5j3	T	A	2: 86,129,019 (GRCm39)	N286K	probably damaging	Het
Or5p70	G	T	7: 107,995,035 (GRCm39)	S236I	possibly damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Parp9	A	G	16: 35,773,996 (GRCm39)	I90V	possibly damaging	Het
Pate7	A	T	9: 35,688,442 (GRCm39)	S48T	possibly damaging	Het
Pcdha11	T	C	18: 37,144,509 (GRCm39)	L200P	probably damaging	Het
Pcdhb4	T	C	18: 37,441,482 (GRCm39)	V264A	possibly damaging	Het
Plch1	G	T	3: 63,606,279 (GRCm39)	N1199K	possibly damaging	Het
Ptpn22	A	G	3: 103,819,331 (GRCm39)	N795S	probably damaging	Het
Qars1	T	C	9: 108,385,297 (GRCm39)	S6P	probably benign	Het
Sema3a	T	C	5: 13,630,969 (GRCm39)	Y502H	probably damaging	Het
Sema4f	A	G	6: 82,914,085 (GRCm39)	I91T	probably damaging	Het
Setx	T	G	2: 29,030,302 (GRCm39)	I247S	probably damaging	Het
Slc9c1	T	C	16: 45,395,731 (GRCm39)	L594P	probably damaging	Het
Tnfrsf19	A	T	14: 61,208,588 (GRCm39)	M311K	probably benign	Het
Tubgcp4	T	C	2: 121,024,589 (GRCm39)	I588T	probably benign	Het
Tyro3	T	C	2: 119,643,304 (GRCm39)	V655A	probably damaging	Het
Uba7	T	A	9: 107,856,138 (GRCm39)	D504E	probably benign	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vldlr	A	G	19: 27,215,477 (GRCm39)	E117G	possibly damaging	Het
Vmn2r44	A	T	7: 8,381,005 (GRCm39)	I296K	probably damaging	Het
Vmn2r80	T	A	10: 79,017,837 (GRCm39)	C521S	probably damaging	Het
Wnk1	A	T	6: 119,949,958 (GRCm39)		probably benign	Het
Xpo1	T	C	11: 23,237,434 (GRCm39)	S766P	probably damaging	Het
Zcchc4	A	G	5: 52,953,486 (GRCm39)	N165S	possibly damaging	Het

Other mutations in Pax2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Pax2	APN	19	44,779,127 (GRCm39)	missense	probably damaging	0.99
IGL02368:Pax2	APN	19	44,823,848 (GRCm39)	missense	possibly damaging	0.55
IGL03146:Pax2	APN	19	44,821,714 (GRCm39)	splice site	probably benign
R0084:Pax2	UTSW	19	44,806,874 (GRCm39)	missense	probably damaging	1.00
R0554:Pax2	UTSW	19	44,750,300 (GRCm39)	missense	probably damaging	1.00
R1116:Pax2	UTSW	19	44,745,863 (GRCm39)	missense	probably damaging	0.99
R1951:Pax2	UTSW	19	44,777,271 (GRCm39)	missense	probably benign	0.09
R1952:Pax2	UTSW	19	44,777,271 (GRCm39)	missense	probably benign	0.09
R1981:Pax2	UTSW	19	44,806,904 (GRCm39)	missense	probably damaging	1.00
R3015:Pax2	UTSW	19	44,804,463 (GRCm39)	missense	probably damaging	1.00
R4320:Pax2	UTSW	19	44,823,838 (GRCm39)	missense	probably damaging	0.97
R4561:Pax2	UTSW	19	44,824,402 (GRCm39)	missense	unknown
R4562:Pax2	UTSW	19	44,824,402 (GRCm39)	missense	unknown
R4661:Pax2	UTSW	19	44,749,376 (GRCm39)	missense	probably damaging	1.00
R4948:Pax2	UTSW	19	44,804,479 (GRCm39)	missense	probably damaging	1.00
R5131:Pax2	UTSW	19	44,749,394 (GRCm39)	missense	probably damaging	0.98
R5622:Pax2	UTSW	19	44,806,905 (GRCm39)	missense	probably damaging	1.00
R5661:Pax2	UTSW	19	44,779,161 (GRCm39)	missense	probably damaging	1.00
R6171:Pax2	UTSW	19	44,779,179 (GRCm39)	missense	probably damaging	1.00
R6713:Pax2	UTSW	19	44,823,916 (GRCm39)	missense	unknown
R6791:Pax2	UTSW	19	44,777,260 (GRCm39)	missense	possibly damaging	0.69
R7156:Pax2	UTSW	19	44,777,298 (GRCm39)	missense	probably benign	0.00
R7679:Pax2	UTSW	19	44,749,376 (GRCm39)	missense	probably damaging	1.00
R7695:Pax2	UTSW	19	44,821,638 (GRCm39)	missense	probably damaging	1.00
R8005:Pax2	UTSW	19	44,749,328 (GRCm39)	missense	probably damaging	1.00
R8555:Pax2	UTSW	19	44,750,128 (GRCm39)	missense	probably damaging	1.00
R8849:Pax2	UTSW	19	44,749,111 (GRCm39)	intron	probably benign
R8878:Pax2	UTSW	19	44,777,215 (GRCm39)	critical splice acceptor site	probably null
R9043:Pax2	UTSW	19	44,804,499 (GRCm39)	missense	probably benign	0.00
R9103:Pax2	UTSW	19	44,806,968 (GRCm39)	missense	probably benign	0.00
X0018:Pax2	UTSW	19	44,785,115 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CAGCCTGCAATGTCTGTCTG -3'
(R):5'- GCTAAAACTGATCTCACAGCAG -3'

Sequencing Primer
(F):5'- TGGGAGTGATTCCTCCCTCAAG -3'
(R):5'- TGATCTCACAGCAGAGCAGC -3'

Posted On

2017-08-16