Mutagenetix > Incidental Mutation

Incidental Mutation 'R1981:Pax2'

222419

Institutional Source

Beutler Lab

Gene Symbol

Pax2

Ensembl Gene

ENSMUSG00000004231

Gene Name

paired box 2

Synonyms

Opdc, Pax-2

MMRRC Submission

039993-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44744484-44826310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44806904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 301 (D301N)

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: D300N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000004340
Gene: ENSMUSG00000004231
AA Change: D300N

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: ENSMUST00000172880
AA Change: D301N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134174
Gene: ENSMUSG00000004231
AA Change: D301N

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 damaging
Transcript: ENSMUST00000173346
AA Change: D274N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134311
Gene: ENSMUSG00000004231
AA Change: D274N

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

possibly damaging
Transcript: ENSMUST00000174490
AA Change: D278N

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134661
Gene: ENSMUSG00000004231
AA Change: D278N

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

0.3206

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks1	T	C	17: 28,204,095 (GRCm39)	V181A	probably damaging	Het
Aqp4	T	C	18: 15,526,608 (GRCm39)	D291G	probably damaging	Het
Atad1	G	T	19: 32,673,210 (GRCm39)	D224E	probably benign	Het
Atp1a3	T	G	7: 24,700,400 (GRCm39)	E33A	probably benign	Het
Baz2b	A	G	2: 59,754,024 (GRCm39)	F1100L	possibly damaging	Het
Car7	C	T	8: 105,275,009 (GRCm39)		probably benign	Het
Casp8	C	A	1: 58,868,121 (GRCm39)		probably null	Het
Cdh23	A	T	10: 60,214,530 (GRCm39)	L1495H	probably damaging	Het
Ceacam9	T	G	7: 16,459,232 (GRCm39)	L177R	probably benign	Het
Col16a1	C	G	4: 129,959,236 (GRCm39)	P346A	unknown	Het
Cyp2c29	A	G	19: 39,296,216 (GRCm39)		probably null	Het
Cyp3a13	T	C	5: 137,910,118 (GRCm39)	S139G	probably damaging	Het
Dapk2	A	G	9: 66,176,180 (GRCm39)	H327R	probably benign	Het
Ddx19b	T	C	8: 111,735,975 (GRCm39)	T357A	possibly damaging	Het
Dnah2	A	G	11: 69,365,151 (GRCm39)	Y1944H	probably damaging	Het
Dnai2	T	A	11: 114,623,755 (GRCm39)	V6E	probably damaging	Het
Eipr1	T	C	12: 28,913,024 (GRCm39)	Y242H	probably damaging	Het
Fam149a	T	G	8: 45,834,778 (GRCm39)	D7A	probably damaging	Het
Fam217a	T	A	13: 35,100,737 (GRCm39)	D140V	probably benign	Het
Fat4	G	A	3: 39,045,813 (GRCm39)	C3944Y	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Gcsam	A	T	16: 45,440,337 (GRCm39)	T127S	probably damaging	Het
Git2	C	T	5: 114,887,620 (GRCm39)		probably benign	Het
Gm1527	T	C	3: 28,969,984 (GRCm39)		probably null	Het
Gtf3c1	A	G	7: 125,243,444 (GRCm39)	L1720P	possibly damaging	Het
H2-T9	T	A	17: 36,439,614 (GRCm39)	D122V	probably damaging	Het
Hat1	A	G	2: 71,220,321 (GRCm39)	T28A	probably benign	Het
Igf2r	G	A	17: 12,952,790 (GRCm39)	Q219*	probably null	Het
Impdh1	T	A	6: 29,206,450 (GRCm39)	D129V	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Ltbp3	A	G	19: 5,808,107 (GRCm39)	Q1250R	probably benign	Het
Mansc4	T	A	6: 146,977,173 (GRCm39)	I148F	probably benign	Het
Mast2	T	C	4: 116,172,037 (GRCm39)	Y569C	probably damaging	Het
Mcoln3	A	T	3: 145,846,345 (GRCm39)	K552*	probably null	Het
Mctp2	T	C	7: 71,814,446 (GRCm39)	Q601R	probably benign	Het
Mei1	A	G	15: 81,987,513 (GRCm39)	N859S	probably benign	Het
Myo19	A	T	11: 84,782,996 (GRCm39)	Q170L	possibly damaging	Het
Myo1h	T	C	5: 114,491,898 (GRCm39)	F676S	probably damaging	Het
Myo9a	A	G	9: 59,801,429 (GRCm39)	T1876A	probably benign	Het
Nav3	G	T	10: 109,554,951 (GRCm39)		probably benign	Het
Ndor1	T	C	2: 25,145,236 (GRCm39)	Y43C	probably damaging	Het
Nlrp1a	A	G	11: 70,989,764 (GRCm39)	V1102A	probably damaging	Het
Nmnat3	T	C	9: 98,292,352 (GRCm39)	I199T	possibly damaging	Het
Nsun7	T	C	5: 66,418,557 (GRCm39)	S96P	probably damaging	Het
Ntng1	A	G	3: 109,842,326 (GRCm39)	V149A	possibly damaging	Het
Oas3	T	C	5: 120,899,900 (GRCm39)		probably benign	Het
Or10v9	T	G	19: 11,832,371 (GRCm39)	Q315H	possibly damaging	Het
Or4k47	T	A	2: 111,451,586 (GRCm39)	I278F	probably benign	Het
Or5bw2	A	G	7: 6,573,557 (GRCm39)	D189G	probably benign	Het
Or6z7	T	C	7: 6,483,931 (GRCm39)	M75V	probably benign	Het
Or8b3	T	C	9: 38,315,031 (GRCm39)	L287P	probably damaging	Het
Or8k53	A	T	2: 86,177,486 (GRCm39)	I208N	possibly damaging	Het
Pcsk4	T	A	10: 80,161,613 (GRCm39)	E176V	probably damaging	Het
Pkhd1	G	A	1: 20,187,284 (GRCm39)	P3675S	probably benign	Het
Plekho2	A	T	9: 65,465,974 (GRCm39)	L138Q	probably damaging	Het
Ppp4r3c1	A	T	X: 88,975,051 (GRCm39)	V382E	probably damaging	Het
Prkcsh	A	G	9: 21,924,164 (GRCm39)	D458G	probably damaging	Het
Prr11	T	A	11: 86,994,116 (GRCm39)	D100V	probably damaging	Het
Qars1	A	G	9: 108,392,227 (GRCm39)	N136D	probably damaging	Het
Rbm15b	A	G	9: 106,758,822 (GRCm39)		probably benign	Het
Rel	C	T	11: 23,692,761 (GRCm39)	G424D	probably benign	Het
Rsrc1	A	G	3: 67,257,338 (GRCm39)	D250G	probably benign	Het
Samt3	A	C	X: 85,090,740 (GRCm39)	M211L	probably benign	Het
Scn2a	C	A	2: 65,520,514 (GRCm39)	N503K	probably damaging	Het
Sh2d6	G	A	6: 72,494,527 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,976,157 (GRCm39)	T475A	probably benign	Het
Ssxb10	A	G	X: 8,197,258 (GRCm39)	D77G	probably benign	Het
Tbx20	T	A	9: 24,682,209 (GRCm39)	K48N	possibly damaging	Het
Tead1	C	A	7: 112,490,952 (GRCm39)	D231E	probably benign	Het
Ticam1	C	T	17: 56,578,555 (GRCm39)	R180H	probably damaging	Het
Tjp1	A	T	7: 64,962,603 (GRCm39)	F1111L	probably damaging	Het
Tlr11	T	A	14: 50,599,445 (GRCm39)	I477K	possibly damaging	Het
Ttc13	A	G	8: 125,440,926 (GRCm39)		probably null	Het
Ttc17	T	C	2: 94,157,049 (GRCm39)	N411S	probably benign	Het
Usp15	T	A	10: 122,960,946 (GRCm39)		probably benign	Het
Usp18	A	G	6: 121,229,476 (GRCm39)	K32E	probably benign	Het
Vmn1r12	A	T	6: 57,136,646 (GRCm39)	M248L	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp930	T	A	8: 69,680,824 (GRCm39)	L172H	probably damaging	Het
Zfp976	G	A	7: 42,263,046 (GRCm39)	H264Y	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
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
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'- ATCTCCACTCAGCGTGTCAG -3'
(R):5'- ACTCTGCAGATACCATGGCAG -3'

Sequencing Primer
(F):5'- ACTCAGCGTGTCAGGTCCAC -3'
(R):5'- AGGGGGCCACTTGTCTCATTG -3'

Posted On

2014-08-25