Mutagenetix > Incidental Mutation

Incidental Mutation 'R1752:Pax5'

193594

Institutional Source

Beutler Lab

Gene Symbol

Pax5

Ensembl Gene

ENSMUSG00000014030

Gene Name

paired box 5

Synonyms

EBB-1, Pax-5

MMRRC Submission

039784-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1752 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

44524757-44710487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44609729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 233 (Y233C)

Ref Sequence

ENSEMBL: ENSMUSP00000133671 (fasta)

Gene Model

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

AlphaFold

Q02650

Predicted Effect

probably damaging
Transcript: ENSMUST00000014174
AA Change: Y299C

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

SMART Domains

Protein: ENSMUSP00000014174
Gene: ENSMUSG00000014030
AA Change: Y299C

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 damaging
Transcript: ENSMUST00000102932
AA Change: Y299C

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

SMART Domains

Protein: ENSMUSP00000099996
Gene: ENSMUSG00000014030
AA Change: Y299C

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 damaging
Transcript: ENSMUST00000107825
AA Change: Y299C

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

SMART Domains

Protein: ENSMUSP00000103455
Gene: ENSMUSG00000014030
AA Change: Y299C

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 benign
Transcript: ENSMUST00000107826

SMART Domains

Protein: ENSMUSP00000103457
Gene: ENSMUSG00000014030

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 benign
Transcript: ENSMUST00000107827

SMART Domains

Protein: ENSMUSP00000103458
Gene: ENSMUSG00000014030

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 damaging
Transcript: ENSMUST00000134968
AA Change: Y256C

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

SMART Domains

Protein: ENSMUSP00000133540
Gene: ENSMUSG00000014030
AA Change: Y256C

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 benign
Transcript: ENSMUST00000143235

SMART Domains

Protein: ENSMUSP00000134370
Gene: ENSMUSG00000014030

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 damaging
Transcript: ENSMUST00000173821
AA Change: Y299C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134712
Gene: ENSMUSG00000014030
AA Change: Y299C

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 damaging
Transcript: ENSMUST00000173733
AA Change: Y233C

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

SMART Domains

Protein: ENSMUSP00000133671
Gene: ENSMUSG00000014030
AA Change: Y233C

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 damaging
Transcript: ENSMUST00000165417
AA Change: Y256C

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

SMART Domains

Protein: ENSMUSP00000128880
Gene: ENSMUSG00000014030
AA Change: Y256C

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

unknown
Transcript: ENSMUST00000174319
AA Change: Y243C

SMART Domains

Protein: ENSMUSP00000133978
Gene: ENSMUSG00000014030
AA Change: Y243C

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

Predicted Effect

unknown
Transcript: ENSMUST00000194075
AA Change: Y116C

Predicted Effect

unknown
Transcript: ENSMUST00000172866
AA Change: Y243C

SMART Domains

Protein: ENSMUSP00000134119
Gene: ENSMUSG00000014030
AA Change: Y243C

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

noncoding transcript
Transcript: ENSMUST00000175020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172949

Predicted Effect

probably benign
Transcript: ENSMUST00000174242

SMART Domains

Protein: ENSMUSP00000134391
Gene: ENSMUSG00000014030

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,842,468 (GRCm39)	V1134A	probably benign	Het
Accsl	C	T	2: 93,688,375 (GRCm39)	G420S	probably damaging	Het
Adam29	A	G	8: 56,325,309 (GRCm39)	S382P	probably damaging	Het
Apob	T	C	12: 8,038,766 (GRCm39)	L393P	probably benign	Het
Arhgef19	T	G	4: 140,978,354 (GRCm39)	S616A	probably benign	Het
Atp11a	C	T	8: 12,863,094 (GRCm39)	T91I	probably damaging	Het
Ccdc88b	C	T	19: 6,830,690 (GRCm39)	V751I	probably benign	Het
Ccni	T	C	5: 93,350,315 (GRCm39)		probably benign	Het
Cd2	G	A	3: 101,183,511 (GRCm39)	A266V	probably benign	Het
Cd33	T	C	7: 43,181,722 (GRCm39)	D146G	probably benign	Het
Cdh16	A	G	8: 105,346,505 (GRCm39)		probably null	Het
Chd1	T	C	17: 15,963,494 (GRCm39)		probably null	Het
Chd5	A	T	4: 152,459,590 (GRCm39)	I1109F	probably damaging	Het
Cir1	T	C	2: 73,140,882 (GRCm39)	E29G	probably damaging	Het
Clec5a	T	C	6: 40,559,187 (GRCm39)	T66A	probably damaging	Het
Cpa2	A	G	6: 30,552,023 (GRCm39)	D250G	probably damaging	Het
Crybg2	T	A	4: 133,800,961 (GRCm39)	L707H	probably damaging	Het
Csmd3	T	C	15: 47,523,669 (GRCm39)	T2646A	probably benign	Het
Cul7	G	A	17: 46,964,093 (GRCm39)	R390Q	probably benign	Het
Cyp2c69	T	A	19: 39,869,597 (GRCm39)	I141F	probably damaging	Het
Dapk2	C	G	9: 66,127,925 (GRCm39)	R68G	probably damaging	Het
Dclk2	C	T	3: 86,713,434 (GRCm39)	V470I	possibly damaging	Het
Dixdc1	A	G	9: 50,593,850 (GRCm39)	V530A	probably benign	Het
Dock7	A	G	4: 98,854,681 (GRCm39)	F1528L	probably damaging	Het
Edn1	T	A	13: 42,457,075 (GRCm39)	V36E	possibly damaging	Het
Eng	T	C	2: 32,563,404 (GRCm39)	V319A	probably benign	Het
Epb41l2	A	G	10: 25,336,690 (GRCm39)	K229E	probably damaging	Het
Fam184a	T	C	10: 53,550,666 (GRCm39)	N698S	probably benign	Het
Fndc7	T	C	3: 108,776,646 (GRCm39)	N465S	probably benign	Het
Fstl4	T	C	11: 53,077,622 (GRCm39)	V793A	probably benign	Het
Gm9797	A	T	10: 11,485,287 (GRCm39)		noncoding transcript	Het
Hsd17b4	T	C	18: 50,303,834 (GRCm39)	S436P	probably benign	Het
Itsn2	T	G	12: 4,761,950 (GRCm39)		probably null	Het
Kank3	T	C	17: 34,038,791 (GRCm39)	V570A	probably damaging	Het
Kif13a	A	T	13: 46,951,885 (GRCm39)	F733Y	probably damaging	Het
Kif16b	G	T	2: 142,532,586 (GRCm39)	D1184E	probably benign	Het
Kif20a	A	G	18: 34,764,634 (GRCm39)	D727G	possibly damaging	Het
Kif20b	T	A	19: 34,915,736 (GRCm39)	S504R	probably benign	Het
Lrrc37	T	C	11: 103,505,381 (GRCm39)	T2196A	possibly damaging	Het
Ltbp3	C	A	19: 5,795,685 (GRCm39)	H180Q	probably benign	Het
Luzp2	T	C	7: 54,914,088 (GRCm39)	S306P	possibly damaging	Het
Macf1	T	C	4: 123,377,465 (GRCm39)	I1490V	possibly damaging	Het
Manba	T	A	3: 135,212,706 (GRCm39)	W72R	probably damaging	Het
Mast1	A	G	8: 85,651,965 (GRCm39)	V339A	probably benign	Het
Mnx1	A	G	5: 29,682,727 (GRCm39)	S183P	unknown	Het
Muc5b	T	G	7: 141,421,488 (GRCm39)	L4326R	possibly damaging	Het
Myb	T	C	10: 21,032,336 (GRCm39)	D15G	possibly damaging	Het
Ncapg2	A	T	12: 116,390,338 (GRCm39)	D429V	probably damaging	Het
Neurod6	A	G	6: 55,656,511 (GRCm39)	V42A	probably benign	Het
Nfxl1	A	T	5: 72,698,218 (GRCm39)	C276S	probably damaging	Het
Nptx2	C	A	5: 144,492,171 (GRCm39)	T316N	probably damaging	Het
Nrp2	T	A	1: 62,777,600 (GRCm39)	F135Y	probably damaging	Het
Nxpe3	A	T	16: 55,686,837 (GRCm39)	F57Y	probably benign	Het
Or4c109	C	A	2: 88,817,659 (GRCm39)	A296S	possibly damaging	Het
Or51ag1	T	A	7: 103,155,765 (GRCm39)	R129S	probably benign	Het
Osbpl11	T	C	16: 33,025,205 (GRCm39)	Y144H	probably damaging	Het
Pck1	A	G	2: 172,998,906 (GRCm39)	N388S	probably benign	Het
Plcd3	T	A	11: 102,971,085 (GRCm39)	Q157L	probably benign	Het
Pnma2	A	C	14: 67,153,785 (GRCm39)	M70L	probably benign	Het
Pogk	T	C	1: 166,235,997 (GRCm39)	K35E	probably damaging	Het
Ptprb	T	A	10: 116,176,895 (GRCm39)	V1227E	probably benign	Het
Pygm	T	A	19: 6,441,064 (GRCm39)	V450E	probably damaging	Het
Rb1	T	A	14: 73,525,064 (GRCm39)	I190F	probably damaging	Het
Setd2	T	A	9: 110,423,673 (GRCm39)	Y2243N	probably damaging	Het
Slc11a2	A	T	15: 100,303,687 (GRCm39)	L182Q	probably damaging	Het
Slc45a3	T	C	1: 131,905,259 (GRCm39)	L94P	probably damaging	Het
Slc9a4	T	C	1: 40,668,421 (GRCm39)	F688S	probably benign	Het
Slit3	A	T	11: 35,455,480 (GRCm39)	I196F	probably damaging	Het
Sprn	G	A	7: 139,733,408 (GRCm39)		probably benign	Het
Spsb2	A	G	6: 124,787,292 (GRCm39)	D242G	probably benign	Het
Srpk2	A	G	5: 23,733,017 (GRCm39)	I111T	probably damaging	Het
St8sia4	T	A	1: 95,519,537 (GRCm39)	Y317F	probably benign	Het
Stat5a	T	A	11: 100,774,884 (GRCm39)	*798K	probably null	Het
Sult1c2	C	T	17: 54,271,777 (GRCm39)	V137M	possibly damaging	Het
Synj1	T	C	16: 90,735,361 (GRCm39)	T1531A	probably benign	Het
Tasor	T	A	14: 27,193,885 (GRCm39)	Y1028*	probably null	Het
Tax1bp1	A	G	6: 52,698,398 (GRCm39)	T37A	probably damaging	Het
Tet1	T	A	10: 62,648,768 (GRCm39)	D1888V	probably damaging	Het
Tln1	T	C	4: 43,536,311 (GRCm39)	T1994A	probably damaging	Het
Tmco3	A	C	8: 13,341,741 (GRCm39)	D5A	probably benign	Het
Tnk1	T	A	11: 69,747,532 (GRCm39)	N74I	possibly damaging	Het
Ttc16	A	T	2: 32,662,162 (GRCm39)	S120T	probably damaging	Het
Ttn	T	A	2: 76,774,448 (GRCm39)	T2153S	probably damaging	Het
Ttn	A	G	2: 76,594,606 (GRCm39)	V20480A	probably damaging	Het
Usp4	T	C	9: 108,251,441 (GRCm39)	Y539H	probably damaging	Het
Zar1	A	C	5: 72,734,715 (GRCm39)	V168G	probably damaging	Het
Zcchc9	T	C	13: 91,953,899 (GRCm39)	K119E	possibly damaging	Het
Zfp251	T	C	15: 76,737,863 (GRCm39)	N410S	possibly damaging	Het
Zfp605	A	T	5: 110,271,639 (GRCm39)	D10V	probably damaging	Het
Zyg11a	A	T	4: 108,062,479 (GRCm39)	N107K	possibly damaging	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
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
R5134:Pax5	UTSW	4	44,710,407 (GRCm39)	start codon destroyed	probably null	0.96
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'- GCAGAGGCCAGTCATGTCCAAAAG -3'
(R):5'- ACTGAGCTGCATCTGCCCTTACAG -3'

Sequencing Primer
(F):5'- GTCATGTCCAAAAGCACCAAGG -3'
(R):5'- AGAACCTCTGTGGACAGGTC -3'

Posted On

2014-05-23