Mutagenetix > Incidental Mutation

Incidental Mutation 'R9043:Pax2'

687893

Institutional Source

Beutler Lab

Gene Symbol

Pax2

Ensembl Gene

ENSMUSG00000004231

Gene Name

paired box 2

Synonyms

Opdc, Pax-2

MMRRC Submission

068870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9043 (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 44804499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 257 (S257T)

Ref Sequence

ENSEMBL: ENSMUSP00000134661 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004340
AA Change: S279T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000004340
Gene: ENSMUSG00000004231
AA Change: S279T

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: ENSMUST00000173346
AA Change: S253T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134311
Gene: ENSMUSG00000004231
AA Change: S253T

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 benign
Transcript: ENSMUST00000174490
AA Change: S257T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134661
Gene: ENSMUSG00000004231
AA Change: S257T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

99% (87/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	A	8: 88,309,238 (GRCm39)	S134T	possibly damaging	Het
Aadacl4	T	A	4: 144,349,790 (GRCm39)	L349Q	probably damaging	Het
Ankrd29	T	C	18: 12,428,970 (GRCm39)	N33S	probably damaging	Het
Arid3b	T	C	9: 57,699,900 (GRCm39)	S536G	possibly damaging	Het
Art5	A	C	7: 101,748,699 (GRCm39)	M1R	probably null	Het
Arvcf	T	A	16: 18,218,452 (GRCm39)	C545S	probably damaging	Het
Atpsckmt	A	G	15: 31,617,101 (GRCm39)	T189A	probably benign	Het
Axin2	T	A	11: 108,833,794 (GRCm39)	N580K	probably benign	Het
Cdh23	T	G	10: 60,151,478 (GRCm39)	D2469A	probably benign	Het
Cep350	T	A	1: 155,773,228 (GRCm39)	T1781S	probably damaging	Het
Cfap65	T	A	1: 74,943,847 (GRCm39)	T1555S	possibly damaging	Het
Chga	G	A	12: 102,529,054 (GRCm39)	E344K	possibly damaging	Het
Ckap2l	A	T	2: 129,126,892 (GRCm39)	L429M	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cyp2g1	A	G	7: 26,509,256 (GRCm39)	N110S	probably benign	Het
Cyp3a11	T	C	5: 145,805,995 (GRCm39)	D124G	probably benign	Het
Dgkq	A	T	5: 108,801,061 (GRCm39)	V527D	probably damaging	Het
Dnah3	T	C	7: 119,551,272 (GRCm39)	I37V	probably benign	Het
Dnah9	T	A	11: 65,845,680 (GRCm39)	E3068V		Het
Dusp23	T	C	1: 172,460,184 (GRCm39)	E89G	probably null	Het
Fam187a	A	G	11: 102,776,685 (GRCm39)	Y163C	possibly damaging	Het
Gabrg2	T	A	11: 41,865,662 (GRCm39)	I106F	probably damaging	Het
Gpc2	A	G	5: 138,277,193 (GRCm39)	I78T	probably benign	Het
Gpr149	A	C	3: 62,511,360 (GRCm39)	L213R	probably damaging	Het
Grm1	A	T	10: 10,565,056 (GRCm39)	L1084*	probably null	Het
Gypa	A	G	8: 81,222,946 (GRCm39)	T17A	unknown	Het
Gys2	A	T	6: 142,376,059 (GRCm39)	F534L	probably damaging	Het
Iqce	A	T	5: 140,651,810 (GRCm39)	M721K	probably benign	Het
Klrc2	T	A	6: 129,635,741 (GRCm39)	Y129F	probably damaging	Het
Krt14	T	C	11: 100,095,464 (GRCm39)	S314G	possibly damaging	Het
L3mbtl3	T	C	10: 26,156,152 (GRCm39)	Q685R	unknown	Het
Lamb3	A	T	1: 193,007,919 (GRCm39)	K206*	probably null	Het
Lgr5	A	G	10: 115,314,343 (GRCm39)	I198T	probably damaging	Het
Mapk10	A	T	5: 103,074,025 (GRCm39)		probably benign	Het
Mcm6	C	T	1: 128,271,231 (GRCm39)	D463N	probably damaging	Het
Med15	A	T	16: 17,470,582 (GRCm39)	W742R	probably benign	Het
Meis1	T	A	11: 18,831,916 (GRCm39)	Q374L	possibly damaging	Het
Nrxn3	T	C	12: 89,227,252 (GRCm39)	C296R	probably damaging	Het
Ntaq1	A	G	15: 58,014,004 (GRCm39)	Y67C	possibly damaging	Het
Oaf	C	T	9: 43,135,308 (GRCm39)	A157T	probably damaging	Het
Oca2	T	A	7: 55,927,189 (GRCm39)		probably null	Het
Or5b110-ps1	A	T	19: 13,260,074 (GRCm39)	M116K	probably damaging	Het
Or5b12	T	A	19: 12,897,667 (GRCm39)	E2V	probably benign	Het
Or5d36	T	A	2: 87,900,983 (GRCm39)	T248S	possibly damaging	Het
Or9k2b	A	T	10: 130,016,154 (GRCm39)	H198Q	probably benign	Het
Pacs1	A	G	19: 5,188,964 (GRCm39)	I806T	probably benign	Het
Pbxip1	A	T	3: 89,350,794 (GRCm39)	T72S	probably benign	Het
Pcdhb14	T	C	18: 37,581,851 (GRCm39)	I319T	probably damaging	Het
Pcdhga2	C	A	18: 37,802,963 (GRCm39)	A269E	possibly damaging	Het
Pdzph1	A	C	17: 59,280,535 (GRCm39)	N582K	probably benign	Het
Plk2	A	T	13: 110,533,194 (GRCm39)	I186F	probably damaging	Het
Pzp	A	T	6: 128,471,742 (GRCm39)	C895S	probably damaging	Het
Rasa2	A	T	9: 96,484,770 (GRCm39)	V148D	probably damaging	Het
Rgsl1	A	T	1: 153,717,567 (GRCm39)	I14N	possibly damaging	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,349,739 (GRCm39)	R3867G		Het
Rpap3	A	G	15: 97,584,443 (GRCm39)	Y334H	possibly damaging	Het
Scara3	A	C	14: 66,169,070 (GRCm39)	N182K	probably damaging	Het
Sh3bp1	A	G	15: 78,791,449 (GRCm39)	E412G	possibly damaging	Het
Sh3tc2	T	A	18: 62,122,961 (GRCm39)	I574N	possibly damaging	Het
Slc16a11	T	C	11: 70,106,520 (GRCm39)	Y253H	probably damaging	Het
Slc38a4	A	T	15: 96,906,805 (GRCm39)	V311E	possibly damaging	Het
Slc4a7	T	C	14: 14,775,048 (GRCm38)	L826P	probably damaging	Het
Spag9	T	G	11: 93,951,085 (GRCm39)	V83G		Het
Sspo	T	G	6: 48,470,214 (GRCm39)	V4560G	probably benign	Het
Stxbp2	T	A	8: 3,684,478 (GRCm39)	F144I		Het
Tafa2	T	C	10: 123,540,294 (GRCm39)	V50A	probably damaging	Het
Tdh	T	C	14: 63,730,278 (GRCm39)	I334V	probably benign	Het
Tesk2	C	A	4: 116,660,148 (GRCm39)	S451Y	probably benign	Het
Tjp1	A	T	7: 64,962,679 (GRCm39)	V1166E	probably benign	Het
Tmeff2	G	A	1: 51,018,779 (GRCm39)	V254M	unknown	Het
Tmem126a	A	G	7: 90,100,749 (GRCm39)		probably null	Het
Togaram2	C	G	17: 71,993,699 (GRCm39)	P2A	probably benign	Het
Trappc14	G	A	5: 138,259,889 (GRCm39)	T389I	possibly damaging	Het
Tssk4	C	T	14: 55,889,211 (GRCm39)	R246W	probably damaging	Het
Tubal3	C	T	13: 3,982,708 (GRCm39)	R163*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vezt	T	C	10: 93,820,027 (GRCm39)	N446S	probably damaging	Het
Vim	A	T	2: 13,579,249 (GRCm39)	T3S	unknown	Het
Vmn2r45	A	G	7: 8,474,904 (GRCm39)	L708P	possibly damaging	Het
Yes1	A	G	5: 32,810,312 (GRCm39)	Y157C	probably damaging	Het
Zfp358	A	G	8: 3,545,810 (GRCm39)	T131A	probably benign	Het
Zfp426	C	T	9: 20,386,308 (GRCm39)	V58M	probably damaging	Het
Zfp692	T	C	11: 58,198,550 (GRCm39)	S47P	probably damaging	Het
Zfp719	A	T	7: 43,239,605 (GRCm39)	T398S	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
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
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'- TGGTGCTCATGACTTAAGTGTC -3'
(R):5'- GGGACAGCATTTATGTTTTGATCC -3'

Sequencing Primer
(F):5'- GACTTAAGTGTCTCTGTGTTTCCCAG -3'
(R):5'- TACACACGTGGTAGCTGT -3'

Posted On

2021-11-19