Mutagenetix > Incidental Mutation

Incidental Mutation 'R7156:Pax2'

557345

Institutional Source

Beutler Lab

Gene Symbol

Pax2

Ensembl Gene

ENSMUSG00000004231

Gene Name

paired box 2

Synonyms

Opdc, Pax-2

MMRRC Submission

045257-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44744484-44826310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44777298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 165 (I165F)

Ref Sequence

ENSEMBL: ENSMUSP00000134661 (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: I164F

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000004340
Gene: ENSMUSG00000004231
AA Change: I164F

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: I169F

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

SMART Domains

Protein: ENSMUSP00000134311
Gene: ENSMUSG00000004231
AA Change: I169F

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: I165F

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

SMART Domains

Protein: ENSMUSP00000134661
Gene: ENSMUSG00000004231
AA Change: I165F

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,643,282 (GRCm39)	I317T	possibly damaging	Het
Acsl5	G	A	19: 55,257,260 (GRCm39)		probably null	Het
Ahrr	G	A	13: 74,378,035 (GRCm39)	T136I	probably damaging	Het
AI597479	G	A	1: 43,150,261 (GRCm39)	D124N	probably damaging	Het
Arap2	G	T	5: 62,761,914 (GRCm39)	A1604D	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Cadps2	T	C	6: 23,688,955 (GRCm39)	N118S	probably benign	Het
Caskin1	T	A	17: 24,719,657 (GRCm39)		probably null	Het
Cc2d1a	C	T	8: 84,862,389 (GRCm39)	V684M	possibly damaging	Het
Ccdc91	T	C	6: 147,435,676 (GRCm39)	S87P	possibly damaging	Het
Cdr2l	A	G	11: 115,281,792 (GRCm39)	Q99R	probably benign	Het
Celsr3	T	C	9: 108,715,203 (GRCm39)	L2066P	possibly damaging	Het
Cep95	A	C	11: 106,700,050 (GRCm39)	L313F	possibly damaging	Het
Chst10	G	A	1: 38,913,088 (GRCm39)	T63M	probably damaging	Het
Clrn2	G	A	5: 45,611,258 (GRCm39)	G36R	probably damaging	Het
Cnn2	T	G	10: 79,830,349 (GRCm39)	Y273*	probably null	Het
Crtap	T	C	9: 114,207,164 (GRCm39)	T365A	probably benign	Het
D630045J12Rik	T	C	6: 38,171,964 (GRCm39)	T735A	possibly damaging	Het
Disp2	C	T	2: 118,622,292 (GRCm39)	A1008V	probably damaging	Het
Dmrt3	A	G	19: 25,588,317 (GRCm39)	D52G	probably damaging	Het
Dmrta1	T	G	4: 89,576,700 (GRCm39)	L52R	probably damaging	Het
Dmrta2	A	G	4: 109,839,185 (GRCm39)	T311A	probably damaging	Het
Dnm1	T	A	2: 32,230,479 (GRCm39)	N112Y	probably damaging	Het
Dysf	T	C	6: 84,064,858 (GRCm39)		probably null	Het
Ep400	A	G	5: 110,833,229 (GRCm39)	F2034L	unknown	Het
F12	G	A	13: 55,566,310 (GRCm39)	A494V	probably damaging	Het
Fbp2	A	T	13: 62,989,675 (GRCm39)	F210L	probably benign	Het
Fbxo31	T	A	8: 122,281,060 (GRCm39)	Q362L	possibly damaging	Het
Fkbp4	C	T	6: 128,412,787 (GRCm39)	A95T	probably benign	Het
Frmd6	T	G	12: 70,923,983 (GRCm39)	C80W	probably damaging	Het
Fsip2	A	G	2: 82,813,085 (GRCm39)	I3135V	probably benign	Het
Garre1	G	T	7: 33,945,133 (GRCm39)	N582K	possibly damaging	Het
Guca2b	T	A	4: 119,514,887 (GRCm39)	E34V	probably damaging	Het
Hdlbp	G	A	1: 93,341,637 (GRCm39)	T974I	probably damaging	Het
Hsdl2	T	A	4: 59,617,653 (GRCm39)	M460K	possibly damaging	Het
Ift172	C	T	5: 31,429,419 (GRCm39)	V581M	probably damaging	Het
Ift74	A	G	4: 94,549,189 (GRCm39)	K313R	possibly damaging	Het
Ints4	T	A	7: 97,184,493 (GRCm39)		probably null	Het
Iqca1l	C	T	5: 24,757,648 (GRCm39)	E150K	probably benign	Het
Kif21b	A	C	1: 136,075,562 (GRCm39)	T230P	probably damaging	Het
Kit	A	T	5: 75,776,034 (GRCm39)	Y272F	probably benign	Het
Krt77	G	A	15: 101,773,931 (GRCm39)	T241M	probably benign	Het
Lce1j	T	A	3: 92,696,491 (GRCm39)	S96C	unknown	Het
Marveld3	T	A	8: 110,674,820 (GRCm39)	D332V	probably damaging	Het
Matr3	G	T	18: 35,705,974 (GRCm39)	V300F	probably damaging	Het
Mical1	T	A	10: 41,361,253 (GRCm39)		probably null	Het
Mslnl	T	A	17: 25,962,184 (GRCm39)	V194E	probably benign	Het
Mug1	C	A	6: 121,857,864 (GRCm39)	T1119K	probably damaging	Het
Mug1	C	T	6: 121,861,302 (GRCm39)	P1308S	probably damaging	Het
Neb	C	A	2: 52,195,295 (GRCm39)		probably null	Het
Neo1	T	A	9: 58,810,206 (GRCm39)	T1082S	probably damaging	Het
Nkx6-2	C	T	7: 139,162,045 (GRCm39)		probably null	Het
Or10g6	T	C	9: 39,934,526 (GRCm39)	I279T	probably benign	Het
Or8k27	T	A	2: 86,275,652 (GRCm39)	I225L	probably damaging	Het
Orc1	A	T	4: 108,452,656 (GRCm39)	E177V	probably benign	Het
Parp1	G	A	1: 180,426,629 (GRCm39)	V924I	possibly damaging	Het
Pnma2	C	T	14: 67,153,980 (GRCm39)	P135S	probably benign	Het
Ranbp17	A	G	11: 33,247,420 (GRCm39)	I718T	probably damaging	Het
Rbm25	T	A	12: 83,710,965 (GRCm39)	D359E	unknown	Het
Rgs3	T	C	4: 62,535,363 (GRCm39)	L194P	probably damaging	Het
Serpinb6b	A	G	13: 33,155,598 (GRCm39)	I104V	probably benign	Het
Smg9	A	G	7: 24,120,286 (GRCm39)	D420G	probably benign	Het
Smpd1	C	T	7: 105,203,693 (GRCm39)		probably benign	Het
Snx17	T	A	5: 31,354,692 (GRCm39)	M318K	probably damaging	Het
Spata31e5	A	T	1: 28,815,848 (GRCm39)	M728K	possibly damaging	Het
Stard10	G	A	7: 100,995,258 (GRCm39)	D337N	probably damaging	Het
Tex14	A	G	11: 87,375,545 (GRCm39)	T103A	probably damaging	Het
Tle1	A	G	4: 72,088,953 (GRCm39)	S97P	probably benign	Het
Tnfrsf8	T	A	4: 145,041,654 (GRCm39)	M1L	unknown	Het
Traf3ip2	T	C	10: 39,502,173 (GRCm39)	L107P	possibly damaging	Het
Trpc7	A	T	13: 56,937,579 (GRCm39)	S626T	possibly damaging	Het
Ubl7	T	A	9: 57,837,039 (GRCm39)	I350N	probably damaging	Het
Ubr3	T	A	2: 69,851,967 (GRCm39)	I1878N	probably damaging	Het
Usp24	G	T	4: 106,245,116 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,837,229 (GRCm39)	S2772T	possibly damaging	Het
Vmn2r79	T	C	7: 86,686,851 (GRCm39)	V744A	probably damaging	Het
Wbp2nl	T	C	15: 82,189,903 (GRCm39)	S32P	probably damaging	Het
Wwc1	A	G	11: 35,788,201 (GRCm39)		probably null	Het
Zfp629	C	T	7: 127,211,463 (GRCm39)	W115*	probably null	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
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'- TGCTAAGTGGATTGCAGAGCA -3'
(R):5'- CATGAAAGAGCGTGGGACTT -3'

Sequencing Primer
(F):5'- TGGGCAGAGTCCCTCTAC -3'
(R):5'- TCAGATCAGATAGAGGCTGGTAG -3'

Posted On

2019-06-26