Mutagenetix > Incidental Mutation

Incidental Mutation 'R7679:Pax2'

592674

Institutional Source

Beutler Lab

Gene Symbol

Pax2

Ensembl Gene

ENSMUSG00000004231

Gene Name

paired box 2

Synonyms

Opdc, Pax-2

MMRRC Submission

045707-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7679 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44744484-44826310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44749376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 40 (V40M)

Ref Sequence

ENSEMBL: ENSMUSP00000134311 (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: V35M

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

SMART Domains

Protein: ENSMUSP00000004340
Gene: ENSMUSG00000004231
AA Change: V35M

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: V40M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134311
Gene: ENSMUSG00000004231
AA Change: V40M

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: V36M

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

SMART Domains

Protein: ENSMUSP00000134661
Gene: ENSMUSG00000004231
AA Change: V36M

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: 99.6%
20x: 98.9%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	C	14: 78,752,256 (GRCm39)	Y206D		Het
Atm	A	T	9: 53,353,797 (GRCm39)	I2906N	probably damaging	Het
B4galnt4	T	C	7: 140,647,678 (GRCm39)	V422A	probably benign	Het
Bod1l	TTCAGGGATC	TTC	5: 41,977,986 (GRCm39)		probably null	Het
Ccar2	G	A	14: 70,376,684 (GRCm39)	Q887*	probably null	Het
Cdh13	A	G	8: 119,963,658 (GRCm39)	I413V	probably benign	Het
Cfap54	A	G	10: 92,803,374 (GRCm39)	V1556A	probably benign	Het
Chchd7	A	T	4: 3,941,297 (GRCm39)	N14Y	probably damaging	Het
Col24a1	C	A	3: 145,105,110 (GRCm39)	T824N	possibly damaging	Het
Col6a3	A	T	1: 90,739,473 (GRCm39)	Y859N	possibly damaging	Het
Dnaaf5	C	T	5: 139,136,392 (GRCm39)	P131S	unknown	Het
Erh	T	C	12: 80,684,345 (GRCm39)	N44S	probably benign	Het
Esm1	T	A	13: 113,346,646 (GRCm39)	D90E	probably damaging	Het
Fbxo44	A	G	4: 148,238,089 (GRCm39)	F213L	probably benign	Het
Flnc	A	G	6: 29,456,789 (GRCm39)	T2262A	probably benign	Het
Fmo9	T	C	1: 166,495,058 (GRCm39)	Q281R	probably benign	Het
Gdpgp1	G	T	7: 79,888,324 (GRCm39)	E118D	probably benign	Het
Gnas	A	T	2: 174,126,624 (GRCm39)	Q53L	probably damaging	Het
Gpr142	G	A	11: 114,697,533 (GRCm39)	V360M	possibly damaging	Het
Grn	A	G	11: 102,323,895 (GRCm39)	D46G	probably benign	Het
H2-T10	A	G	17: 36,430,216 (GRCm39)	F242L	not run	Het
Hgsnat	T	C	8: 26,444,665 (GRCm39)	T428A	probably damaging	Het
Hoxa9	A	G	6: 52,201,288 (GRCm39)	I251T	probably damaging	Het
Inpp5f	C	T	7: 128,296,247 (GRCm39)	T866I	possibly damaging	Het
Itgb1	T	A	8: 129,446,929 (GRCm39)	N481K	probably damaging	Het
Leng9	C	A	7: 4,152,659 (GRCm39)	D6Y	probably benign	Het
Lox	A	C	18: 52,658,178 (GRCm39)	F332V	possibly damaging	Het
Lrp1	G	T	10: 127,424,297 (GRCm39)	Y796*	probably null	Het
Lrrc32	G	A	7: 98,148,894 (GRCm39)	G558D	possibly damaging	Het
Lrrk2	A	G	15: 91,610,389 (GRCm39)	E707G	possibly damaging	Het
Matn4	A	G	2: 164,231,578 (GRCm39)	*625R	probably null	Het
Mcur1	T	A	13: 43,697,959 (GRCm39)	K314*	probably null	Het
Med1	G	C	11: 98,046,887 (GRCm39)	P1303R	unknown	Het
Mgam	T	C	6: 40,619,980 (GRCm39)	L23P	probably damaging	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Nfatc1	T	C	18: 80,651,205 (GRCm39)	I936V	probably benign	Het
Nol11	T	C	11: 107,064,142 (GRCm39)	S557G	probably benign	Het
Palb2	A	G	7: 121,727,237 (GRCm39)	I211T	probably benign	Het
Pard3	T	C	8: 128,098,327 (GRCm39)	V456A	probably benign	Het
Pik3cb	T	C	9: 98,970,660 (GRCm39)	K344E	probably benign	Het
Pik3r3	T	A	4: 116,113,392 (GRCm39)	M45K	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pot1a	A	G	6: 25,771,633 (GRCm39)	V196A	probably benign	Het
Prkdc	T	A	16: 15,649,183 (GRCm39)	I3719N	probably damaging	Het
Psg16	G	A	7: 16,827,685 (GRCm39)	G123S	probably damaging	Het
Psme4	A	G	11: 30,828,425 (GRCm39)	D1815G	probably damaging	Het
Rpe65	C	T	3: 159,310,030 (GRCm39)	T101I	probably damaging	Het
Rpp25l	A	C	4: 41,712,326 (GRCm39)	C150G	unknown	Het
Saxo4	T	C	19: 10,459,618 (GRCm39)	T30A	probably damaging	Het
Serpina1b	A	T	12: 103,696,774 (GRCm39)	W212R	probably damaging	Het
Slc9a3	G	A	13: 74,308,395 (GRCm39)	R466H	possibly damaging	Het
Sned1	T	C	1: 93,163,760 (GRCm39)	L17P	unknown	Het
Speg	C	T	1: 75,382,959 (GRCm39)	T1056I	probably damaging	Het
Tada1	T	C	1: 166,219,540 (GRCm39)	F281L	probably benign	Het
Tbcd	G	A	11: 121,494,534 (GRCm39)	V1032I	probably benign	Het
Tlr3	A	T	8: 45,852,088 (GRCm39)	S270T	probably benign	Het
Txndc15	G	T	13: 55,873,621 (GRCm39)	R327L	probably damaging	Het
Zfp169	G	C	13: 48,651,859 (GRCm39)	L66V	probably damaging	Het
Zfp442	G	T	2: 150,252,917 (GRCm39)	Y45*	probably null	Het
Zzef1	A	G	11: 72,784,104 (GRCm39)	D2003G	probably benign	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
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'- AGATAATCCTCTATCCGGACCGC -3'
(R):5'- GTCTGGCACCTCGACTTTTAAC -3'

Sequencing Primer
(F):5'- AAGCCACCTTTCTCCCCCAG -3'
(R):5'- GACTTTTAACTAAAACCTCAGCAGGG -3'

Posted On

2019-11-12