Mutagenetix > Incidental Mutation

Incidental Mutation 'R1951:Pax2'

217343

Institutional Source

Beutler Lab

Gene Symbol

Pax2

Ensembl Gene

ENSMUSG00000004231

Gene Name

paired box 2

Synonyms

Opdc, Pax-2

MMRRC Submission

039965-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1951 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

44744484-44826310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44777271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 155 (T155A)

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 benign
Transcript: ENSMUST00000004340
AA Change: T155A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000004340
Gene: ENSMUSG00000004231
AA Change: T155A

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 benign
Transcript: ENSMUST00000172880
AA Change: T156A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000134174
Gene: ENSMUSG00000004231
AA Change: T156A

Domain	Start	End	E-Value	Type
PAX	16	140	2.3e-96	SMART
low complexity region	166	178	N/A	INTRINSIC
SCOP:d1ftt__	247	281	7e-5	SMART
Pfam:Pax2_C	304	415	5.5e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173346
AA Change: T160A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000134311
Gene: ENSMUSG00000004231
AA Change: T160A

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

noncoding transcript
Transcript: ENSMUST00000173799

Predicted Effect

probably benign
Transcript: ENSMUST00000174490
AA Change: T156A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000134661
Gene: ENSMUSG00000004231
AA Change: T156A

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

0.0716

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

98% (84/86)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,655 (GRCm39)	R706C	probably damaging	Het
Adcy3	T	C	12: 4,258,624 (GRCm39)	F847S	probably benign	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Arhgap28	G	A	17: 68,208,336 (GRCm39)	A44V	probably benign	Het
Asap3	C	T	4: 135,954,767 (GRCm39)	R60*	probably null	Het
Baz1b	T	A	5: 135,245,593 (GRCm39)	N347K	probably benign	Het
Best2	T	A	8: 85,737,858 (GRCm39)	N179I	possibly damaging	Het
Bfar	C	T	16: 13,519,970 (GRCm39)	S276L	probably damaging	Het
Bloc1s3	A	G	7: 19,241,483 (GRCm39)	V15A	possibly damaging	Het
Borcs5	A	G	6: 134,687,230 (GRCm39)	H196R	unknown	Het
Calhm3	A	G	19: 47,140,256 (GRCm39)	L279P	probably benign	Het
Cand1	A	T	10: 119,043,925 (GRCm39)		probably benign	Het
Car15	T	C	16: 17,655,269 (GRCm39)	D57G	possibly damaging	Het
Casp12	G	A	9: 5,348,959 (GRCm39)		probably null	Het
Cd93	T	C	2: 148,283,778 (GRCm39)	T523A	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckap5	A	G	2: 91,386,837 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,814,156 (GRCm39)	R619W	unknown	Het
Colec12	G	A	18: 9,859,975 (GRCm39)		probably null	Het
Crmp1	G	A	5: 37,430,699 (GRCm39)	V222I	possibly damaging	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Ctbp2	A	G	7: 132,616,756 (GRCm39)	S60P	probably benign	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dhx36	T	C	3: 62,391,694 (GRCm39)	I551V	probably damaging	Het
Dlg5	T	A	14: 24,206,537 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 71,068,306 (GRCm39)	I300F	probably damaging	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dnah6	T	A	6: 73,061,704 (GRCm39)	R2794*	probably null	Het
Fcgr1	G	A	3: 96,194,386 (GRCm39)	T167I	probably damaging	Het
Fgl1	G	T	8: 41,650,387 (GRCm39)	F187L	probably benign	Het
Fras1	T	A	5: 96,860,242 (GRCm39)	V2096E	probably benign	Het
Gm10647	A	G	9: 66,705,762 (GRCm39)		probably benign	Het
Gm14226	G	A	2: 154,866,255 (GRCm39)	D71N	possibly damaging	Het
Grip2	A	T	6: 91,760,829 (GRCm39)	I284N	probably damaging	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Ift70b	A	G	2: 75,767,586 (GRCm39)	L389P	probably damaging	Het
Irx5	A	G	8: 93,086,438 (GRCm39)	N174D	probably damaging	Het
Itgal	A	G	7: 126,929,317 (GRCm39)	D1078G	probably damaging	Het
Khdc3	T	C	9: 73,010,519 (GRCm39)	V123A	possibly damaging	Het
Klhl13	A	G	X: 23,127,820 (GRCm39)		probably benign	Het
Klhl42	T	C	6: 146,993,321 (GRCm39)	S98P	probably damaging	Het
Lrp5	T	C	19: 3,670,298 (GRCm39)	N602S	possibly damaging	Het
Lrrd1	A	T	5: 3,901,488 (GRCm39)	I598F	probably damaging	Het
Ltbp1	A	G	17: 75,458,372 (GRCm39)	T318A	probably benign	Het
Mfsd6	A	G	1: 52,748,517 (GRCm39)	F116S	probably damaging	Het
Ncam1	T	C	9: 49,456,492 (GRCm39)	I486V	probably benign	Het
Nptx1	A	G	11: 119,434,006 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,408,221 (GRCm39)	Y4C	probably damaging	Het
Nsf	G	A	11: 103,773,702 (GRCm39)	R271*	probably null	Het
Or5d39	A	G	2: 87,979,641 (GRCm39)	S241P	possibly damaging	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8k18	G	C	2: 86,085,440 (GRCm39)	T199S	probably benign	Het
Or8k21	T	A	2: 86,145,504 (GRCm39)	N42I	probably damaging	Het
Or8k24	A	T	2: 86,215,855 (GRCm39)	H302Q	probably benign	Het
Pdia4	A	G	6: 47,780,813 (GRCm39)	Y212H	probably damaging	Het
Pgr	A	G	9: 8,946,954 (GRCm39)		probably benign	Het
Pitpnm3	G	T	11: 71,965,450 (GRCm39)	H112N	possibly damaging	Het
Ppargc1b	G	T	18: 61,431,848 (GRCm39)	T1000K	possibly damaging	Het
Psd3	C	A	8: 68,416,139 (GRCm39)	C586F	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Rabep2	A	T	7: 126,037,736 (GRCm39)	R169S	possibly damaging	Het
Rad21l	T	C	2: 151,497,179 (GRCm39)	R309G	probably benign	Het
Rbm12	T	C	2: 155,939,133 (GRCm39)	R380G	probably damaging	Het
Selp	A	G	1: 163,954,081 (GRCm39)	N127S	probably benign	Het
Slc12a2	A	G	18: 58,012,467 (GRCm39)	T197A	possibly damaging	Het
Slc22a18	C	T	7: 143,029,984 (GRCm39)	T17I	probably damaging	Het
Sptbn4	T	C	7: 27,065,868 (GRCm39)	E2026G	possibly damaging	Het
Srf	A	T	17: 46,862,633 (GRCm39)	M285K	possibly damaging	Het
Tanc1	T	C	2: 59,622,156 (GRCm39)	V425A	possibly damaging	Het
Tle4	A	T	19: 14,493,721 (GRCm39)		probably null	Het
Tmem132e	A	G	11: 82,335,908 (GRCm39)	R905G	possibly damaging	Het
Tmem200c	A	T	17: 69,147,983 (GRCm39)	I189F	probably damaging	Het
Trappc13	T	C	13: 104,311,150 (GRCm39)	Q87R	probably benign	Het
Trpm7	A	T	2: 126,673,219 (GRCm39)	D511E	probably damaging	Het
Ttn	A	T	2: 76,632,634 (GRCm39)	I14140N	possibly damaging	Het
Virma	A	G	4: 11,513,907 (GRCm39)	D587G	probably benign	Het
Vmn1r72	A	G	7: 11,403,731 (GRCm39)	L239P	probably damaging	Het
Vmn2r68	A	G	7: 84,883,102 (GRCm39)	F217L	probably damaging	Het
Vps13c	T	C	9: 67,881,041 (GRCm39)		probably null	Het
Vrtn	T	C	12: 84,695,973 (GRCm39)	V241A	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Zranb3	A	T	1: 127,927,136 (GRCm39)	V343D	probably 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
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
R6110:Pax2	UTSW	19	44,779,175 (GRCm39)	missense	probably damaging	0.99
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'- GTGCTAAGTGGATTGCAGAGC -3'
(R):5'- GGAGGCACTGAACTAATACCAC -3'

Sequencing Primer
(F):5'- CTAAGTGGATTGCAGAGCAGACAG -3'
(R):5'- CCAGAGAGACCCTACGAGG -3'

Posted On

2014-08-01