Mutagenetix > Incidental Mutation

Incidental Mutation 'R5134:Pax5'

396024

Institutional Source

Beutler Lab

Gene Symbol

Pax5

Ensembl Gene

ENSMUSG00000014030

Gene Name

paired box 5

Synonyms

EBB-1, Pax-5

MMRRC Submission

042722-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5134 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44524757-44710487 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 44710407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000133671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014174] [ENSMUST00000102932] [ENSMUST00000107825] [ENSMUST00000107826] [ENSMUST00000107827] [ENSMUST00000134968] [ENSMUST00000143235] [ENSMUST00000174242] [ENSMUST00000165417] [ENSMUST00000173733] [ENSMUST00000173821]

AlphaFold

Q02650

Predicted Effect

probably null
Transcript: ENSMUST00000014174
AA Change: M1T

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

SMART Domains

Protein: ENSMUSP00000014174
Gene: ENSMUSG00000014030
AA Change: M1T

Domain	Start	End	E-Value	Type
PAX	16	140	4.92e-96	SMART
low complexity region	157	189	N/A	INTRINSIC
SCOP:d1ftt__	220	254	1e-4	SMART
Pfam:Pax2_C	279	390	6e-53	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102932
AA Change: M1T

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099996
Gene: ENSMUSG00000014030
AA Change: M1T

Domain	Start	End	E-Value	Type
PAX	16	140	4.92e-96	SMART
low complexity region	157	189	N/A	INTRINSIC
SCOP:d1ftt__	220	254	1e-4	SMART
Pfam:Pax2_C	276	341	1.1e-25	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107825
AA Change: M1T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000103455
Gene: ENSMUSG00000014030
AA Change: M1T

Domain	Start	End	E-Value	Type
PAX	16	140	4.92e-96	SMART
low complexity region	157	189	N/A	INTRINSIC
SCOP:d1ftt__	220	254	2e-4	SMART
Pfam:Pax2_C	279	356	5.7e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107826
AA Change: M1T

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103457
Gene: ENSMUSG00000014030
AA Change: M1T

Domain	Start	End	E-Value	Type
PAX	16	140	4.92e-96	SMART
low complexity region	157	189	N/A	INTRINSIC
SCOP:d1ftt__	220	254	7e-4	SMART
low complexity region	269	281	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107827
AA Change: M1T

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103458
Gene: ENSMUSG00000014030
AA Change: M1T

Domain	Start	End	E-Value	Type
PAX	16	140	4.92e-96	SMART
low complexity region	157	189	N/A	INTRINSIC
SCOP:d1ftt__	220	254	4e-4	SMART
low complexity region	298	310	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000134968
AA Change: M1T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000133540
Gene: ENSMUSG00000014030
AA Change: M1T

Domain	Start	End	E-Value	Type
PAX	16	140	4.92e-96	SMART
SCOP:d1ftt__	177	211	1e-4	SMART
Pfam:Pax2_C	233	298	2.4e-25	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000143235
AA Change: M1T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000134370
Gene: ENSMUSG00000014030
AA Change: M1T

Domain	Start	End	E-Value	Type
PAX	16	140	4.92e-96	SMART
low complexity region	157	189	N/A	INTRINSIC
SCOP:d1ftt__	220	254	1e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000174242
AA Change: M1T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000134391
Gene: ENSMUSG00000014030
AA Change: M1T

Domain	Start	End	E-Value	Type
PAX	16	140	4.92e-96	SMART
low complexity region	157	189	N/A	INTRINSIC
SCOP:d1ftt__	220	254	2e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000165417
AA Change: M1T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128880
Gene: ENSMUSG00000014030
AA Change: M1T

Domain	Start	End	E-Value	Type
PAX	16	140	4.92e-96	SMART
SCOP:d1ftt__	177	211	1e-4	SMART
Pfam:Pax2_C	233	347	7.3e-55	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000173733
AA Change: M1T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133671
Gene: ENSMUSG00000014030
AA Change: M1T

Domain	Start	End	E-Value	Type
PAX	16	120	2.93e-30	SMART
SCOP:d1ftt__	154	188	1e-4	SMART
Pfam:Pax2_C	212	290	8.7e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000173821
AA Change: M1T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000134712
Gene: ENSMUSG00000014030
AA Change: M1T

Domain	Start	End	E-Value	Type
PAX	16	140	4.92e-96	SMART
low complexity region	157	189	N/A	INTRINSIC
SCOP:d1ftt__	220	254	2e-4	SMART
low complexity region	306	325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172866

SMART Domains

Protein: ENSMUSP00000134119
Gene: ENSMUSG00000014030

Domain	Start	End	E-Value	Type
PAX	4	85	2.44e-27	SMART
low complexity region	102	134	N/A	INTRINSIC
SCOP:d1ftt__	165	199	7e-5	SMART
Pfam:Pax2_C	224	335	2.3e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174319

SMART Domains

Protein: ENSMUSP00000133978
Gene: ENSMUSG00000014030

Domain	Start	End	E-Value	Type
PAX	4	85	2.44e-27	SMART
low complexity region	102	134	N/A	INTRINSIC
SCOP:d1ftt__	165	199	2e-4	SMART
low complexity region	251	270	N/A	INTRINSIC

Meta Mutation Damage Score

0.9387

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

96% (100/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Null mutants exhibit impaired development of the midbrain resulting in a reduced inferior colliculus and an altered cerebellar folial pattern, failure of B cell differentiation, runting, and high postnatal mortality with few survivors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	A	10: 77,161,679 (GRCm39)		probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arsj	A	G	3: 126,231,803 (GRCm39)	D183G	probably benign	Het
Atg2b	A	G	12: 105,641,209 (GRCm39)	S76P	probably damaging	Het
Atxn7l1	C	A	12: 33,422,875 (GRCm39)	N815K	probably damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cir1	G	A	2: 73,114,847 (GRCm39)	R404*	probably null	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Cstf2t	T	A	19: 31,061,494 (GRCm39)	D343E	probably damaging	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Dhx34	G	T	7: 15,952,175 (GRCm39)	A150D	possibly damaging	Het
Dnal4	A	T	15: 79,647,766 (GRCm39)	V32E	possibly damaging	Het
Dvl3	G	T	16: 20,343,357 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	C	T	15: 54,762,726 (GRCm39)	R174H	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	T	15: 58,512,003 (GRCm39)	D1490V	probably damaging	Het
Fsd1l	A	G	4: 53,647,766 (GRCm39)	K70E	probably benign	Het
Galnt12	G	A	4: 47,113,818 (GRCm39)	A79T	probably damaging	Het
Galnt17	A	T	5: 130,992,873 (GRCm39)	M347K	probably damaging	Het
Glyatl3	A	G	17: 41,215,921 (GRCm39)	V195A	probably benign	Het
Gm10770	A	T	2: 150,021,480 (GRCm39)		probably null	Het
Gm5578	A	T	6: 112,583,046 (GRCm39)		noncoding transcript	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Ighv1-50	T	G	12: 115,083,653 (GRCm39)	Q22H	probably benign	Het
Ipcef1	A	G	10: 6,869,950 (GRCm39)	I150T	probably benign	Het
Ipp	T	A	4: 116,372,654 (GRCm39)	F228I	possibly damaging	Het
Itgb7	A	G	15: 102,125,842 (GRCm39)	C596R	probably damaging	Het
Kif27	T	C	13: 58,438,904 (GRCm39)	D1219G	possibly damaging	Het
Lats1	T	A	10: 7,567,575 (GRCm39)	D115E	probably benign	Het
Lpcat3	A	G	6: 124,679,493 (GRCm39)	N331S	probably benign	Het
Lrpprc	A	T	17: 85,058,684 (GRCm39)	N725K	probably benign	Het
Lss	T	G	10: 76,382,070 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,747,515 (GRCm39)	Y450C	possibly damaging	Het
Mmp21	A	T	7: 133,280,742 (GRCm39)	V76E	probably benign	Het
Mtmr11	A	T	3: 96,077,223 (GRCm39)	Y527F	probably damaging	Het
Nat10	A	T	2: 103,573,638 (GRCm39)	F327I	probably benign	Het
Nfkbiz	A	T	16: 55,638,863 (GRCm39)	M199K	probably damaging	Het
Nuak1	A	G	10: 84,210,214 (GRCm39)	Y625H	probably benign	Het
Odf1	A	G	15: 38,226,393 (GRCm39)	T98A	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or10g3b	T	C	14: 52,587,248 (GRCm39)	N85S	probably benign	Het
Or1j4	A	T	2: 36,740,488 (GRCm39)	L143F	probably benign	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Osbpl8	T	A	10: 111,124,554 (GRCm39)	D705E	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Paics	T	C	5: 77,104,669 (GRCm39)		probably benign	Het
Pck1	A	T	2: 172,995,282 (GRCm39)	N34I	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Piezo2	A	G	18: 63,207,691 (GRCm39)	V1440A	probably damaging	Het
Prr23a4	T	C	9: 98,785,793 (GRCm39)	S153P	probably benign	Het
Ptpre	T	A	7: 135,253,821 (GRCm39)	F83Y	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rassf6	T	A	5: 90,752,225 (GRCm39)		probably null	Het
Rilp	A	T	11: 75,403,534 (GRCm39)	L325F	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Rps6kc1	T	A	1: 190,505,845 (GRCm39)	D1039V	probably damaging	Het
Rufy3	G	A	5: 88,793,426 (GRCm39)	V579I	probably benign	Het
Serpinc1	A	G	1: 160,825,140 (GRCm39)		probably null	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
St14	T	G	9: 31,006,879 (GRCm39)	D649A	probably benign	Het
Stab2	A	G	10: 86,707,674 (GRCm39)		probably null	Het
Sun3	T	C	11: 8,988,287 (GRCm39)	T12A	probably benign	Het
Tdrd6	A	G	17: 43,937,101 (GRCm39)	Y1316H	probably damaging	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Trav14-3	T	A	14: 54,000,701 (GRCm39)	S17T	unknown	Het
Trmu	T	A	15: 85,780,556 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Unc5b	A	T	10: 60,610,879 (GRCm39)	V376E	probably benign	Het
Usp3	T	C	9: 66,449,814 (GRCm39)	S166G	possibly damaging	Het
Vldlr	C	A	19: 27,216,212 (GRCm39)	C344*	probably null	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdfy3	A	C	5: 102,091,969 (GRCm39)	Y457D	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	Het
Zfp758	A	G	17: 22,594,386 (GRCm39)	K291E	probably damaging	Het
Zfp799	A	T	17: 33,039,415 (GRCm39)	C284S	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	Het

Other mutations in Pax5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02369:Pax5	APN	4	44,691,919 (GRCm39)	missense	probably damaging	1.00
IGL02700:Pax5	APN	4	44,682,722 (GRCm39)	missense	probably damaging	0.99
IGL02754:Pax5	APN	4	44,570,059 (GRCm39)	missense	probably damaging	0.96
apple	UTSW	4	0 ()	unclassified
Denim	UTSW	4	44,645,661 (GRCm39)	nonsense	probably null
Glacier	UTSW	4	44,679,494 (GRCm39)	missense	probably damaging	1.00
glacier2	UTSW	4	44,710,407 (GRCm39)	start codon destroyed	probably null	0.96
Glacier3	UTSW	4	44,679,526 (GRCm39)	missense	probably damaging	1.00
jeans	UTSW	4	44,645,621 (GRCm39)	missense	probably benign	0.03
k2	UTSW	4	44,697,630 (GRCm39)	missense	probably damaging	1.00
menshevik	UTSW	4	44,570,071 (GRCm39)	missense	probably damaging	1.00
Son_of_apple	UTSW	4	44,710,583 (GRCm39)	unclassified	probably benign
R0411:Pax5	UTSW	4	44,609,783 (GRCm39)	missense	probably damaging	0.99
R0415:Pax5	UTSW	4	44,691,886 (GRCm39)	missense	probably damaging	1.00
R0655:Pax5	UTSW	4	44,537,462 (GRCm39)	missense	probably damaging	0.97
R1146:Pax5	UTSW	4	44,697,512 (GRCm39)	splice site	probably benign
R1752:Pax5	UTSW	4	44,609,729 (GRCm39)	missense	probably damaging	1.00
R1891:Pax5	UTSW	4	44,691,859 (GRCm39)	missense	probably damaging	1.00
R4766:Pax5	UTSW	4	44,679,494 (GRCm39)	missense	probably damaging	1.00
R4783:Pax5	UTSW	4	44,570,086 (GRCm39)	missense	probably damaging	1.00
R5341:Pax5	UTSW	4	44,697,630 (GRCm39)	missense	probably damaging	1.00
R5458:Pax5	UTSW	4	44,679,526 (GRCm39)	missense	probably damaging	1.00
R6281:Pax5	UTSW	4	44,691,955 (GRCm39)	missense	probably benign	0.37
R6871:Pax5	UTSW	4	44,710,583 (GRCm39)	unclassified	probably benign
R7025:Pax5	UTSW	4	44,679,501 (GRCm39)	nonsense	probably null
R7204:Pax5	UTSW	4	44,679,485 (GRCm39)	missense	possibly damaging	0.93
R7975:Pax5	UTSW	4	44,537,465 (GRCm39)	missense	probably damaging	0.98
R8246:Pax5	UTSW	4	44,570,027 (GRCm39)	missense	probably benign	0.08
R8527:Pax5	UTSW	4	44,570,071 (GRCm39)	missense	probably damaging	1.00
R8542:Pax5	UTSW	4	44,570,071 (GRCm39)	missense	probably damaging	1.00
R8836:Pax5	UTSW	4	44,645,621 (GRCm39)	missense	probably benign	0.03
R8847:Pax5	UTSW	4	44,691,865 (GRCm39)	missense	probably benign	0.15
R8987:Pax5	UTSW	4	44,645,661 (GRCm39)	nonsense	probably null
R9404:Pax5	UTSW	4	44,645,565 (GRCm39)	missense	possibly damaging	0.80
S24628:Pax5	UTSW	4	44,691,886 (GRCm39)	missense	probably damaging	1.00
X0018:Pax5	UTSW	4	44,691,880 (GRCm39)	missense	probably damaging	1.00
Z1176:Pax5	UTSW	4	44,697,678 (GRCm39)	missense	probably damaging	1.00
Z1177:Pax5	UTSW	4	44,697,558 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACGCACTGTAGAAGGAC -3'
(R):5'- TTATTCCGACTTGTGAGCGG -3'

Sequencing Primer
(F):5'- GGCCTTTTCCTGAGAAAACTAC -3'
(R):5'- TTGTGAGCGGGCCCCAG -3'

Posted On

2016-06-21