Mutagenetix > Incidental Mutation

Incidental Mutation 'R5458:Pax5'

432862

Institutional Source

Beutler Lab

Gene Symbol

Pax5

Ensembl Gene

ENSMUSG00000014030

Gene Name

paired box 5

Synonyms

EBB-1, Pax-5

MMRRC Submission

043021-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5458 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

44524757-44710487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44679526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 172 (D172G)

Ref Sequence

ENSEMBL: ENSMUSP00000139296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014174] [ENSMUST00000102932] [ENSMUST00000107825] [ENSMUST00000107826] [ENSMUST00000107827] [ENSMUST00000134968] [ENSMUST00000143235] [ENSMUST00000146335] [ENSMUST00000173733] [ENSMUST00000173821] [ENSMUST00000174242] [ENSMUST00000186542] [ENSMUST00000165417]

AlphaFold

Q02650

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014174
AA Change: D173G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000014174
Gene: ENSMUSG00000014030
AA Change: D173G

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

possibly damaging
Transcript: ENSMUST00000102932
AA Change: D173G

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099996
Gene: ENSMUSG00000014030
AA Change: D173G

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: D173G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103455
Gene: ENSMUSG00000014030
AA Change: D173G

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 damaging
Transcript: ENSMUST00000107826
AA Change: D173G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103457
Gene: ENSMUSG00000014030
AA Change: D173G

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 damaging
Transcript: ENSMUST00000107827
AA Change: D173G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103458
Gene: ENSMUSG00000014030
AA Change: D173G

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 benign
Transcript: ENSMUST00000134968

SMART Domains

Protein: ENSMUSP00000133540
Gene: ENSMUSG00000014030

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

noncoding transcript
Transcript: ENSMUST00000140826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191036

Predicted Effect

probably damaging
Transcript: ENSMUST00000143235
AA Change: D173G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134370
Gene: ENSMUSG00000014030
AA Change: D173G

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: ENSMUST00000146335
AA Change: D172G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139296
Gene: ENSMUSG00000014030
AA Change: D172G

Domain	Start	End	E-Value	Type
PAX	15	139	8e-96	SMART
low complexity region	156	188	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172949

Predicted Effect

probably damaging
Transcript: ENSMUST00000173733
AA Change: D107G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133671
Gene: ENSMUSG00000014030
AA Change: D107G

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: ENSMUST00000173821
AA Change: D173G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134712
Gene: ENSMUSG00000014030
AA Change: D173G

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

possibly damaging
Transcript: ENSMUST00000174242
AA Change: D173G

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134391
Gene: ENSMUSG00000014030
AA Change: D173G

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

noncoding transcript
Transcript: ENSMUST00000174761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187197

Predicted Effect

unknown
Transcript: ENSMUST00000172866
AA Change: D117G

SMART Domains

Protein: ENSMUSP00000134119
Gene: ENSMUSG00000014030
AA Change: D117G

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

unknown
Transcript: ENSMUST00000174319
AA Change: D117G

SMART Domains

Protein: ENSMUSP00000133978
Gene: ENSMUSG00000014030
AA Change: D117G

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

silent
Transcript: ENSMUST00000186542

SMART Domains

Protein: ENSMUSP00000141186
Gene: ENSMUSG00000014030

Domain	Start	End	E-Value	Type
PAX	15	108	1.2e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165417

SMART Domains

Protein: ENSMUSP00000128880
Gene: ENSMUSG00000014030

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

Meta Mutation Damage Score

0.1502

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (54/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	A	G	6: 125,027,013 (GRCm39)		probably benign	Het
Acsl5	A	G	19: 55,282,662 (GRCm39)	D589G	probably damaging	Het
Akap13	T	A	7: 75,236,049 (GRCm39)	L208Q	probably damaging	Het
Ankfn1	C	T	11: 89,325,636 (GRCm39)	R512K	probably benign	Het
Ankhd1	T	C	18: 36,781,538 (GRCm39)	S2197P	probably benign	Het
Ankrd27	A	G	7: 35,291,236 (GRCm39)	N11D	probably damaging	Het
Aspg	T	C	12: 112,086,436 (GRCm39)	V230A	probably damaging	Het
Atp2c1	A	T	9: 105,291,924 (GRCm39)	Y709*	probably null	Het
Atp8b2	T	C	3: 89,853,329 (GRCm39)	N748D	probably benign	Het
B4galnt3	A	G	6: 120,187,346 (GRCm39)	V684A	probably damaging	Het
Bco2	T	C	9: 50,456,644 (GRCm39)		probably null	Het
Bcr	T	C	10: 74,990,792 (GRCm39)	V766A	probably benign	Het
Brca1	T	C	11: 101,408,111 (GRCm39)	N1404S	possibly damaging	Het
Cfap251	A	G	5: 123,392,508 (GRCm39)		probably benign	Het
Chd1	A	G	17: 15,958,811 (GRCm39)	D621G	probably damaging	Het
Chek1	A	G	9: 36,625,725 (GRCm39)	S307P	probably benign	Het
Dhx29	T	C	13: 113,103,155 (GRCm39)	M1345T	probably benign	Het
Dnah6	T	A	6: 73,063,168 (GRCm39)	T2697S	probably damaging	Het
Ephb4	T	C	5: 137,368,114 (GRCm39)	V753A	probably damaging	Het
Fat1	T	C	8: 45,466,090 (GRCm39)	Y1427H	probably damaging	Het
Fggy	A	G	4: 95,814,980 (GRCm39)	Q445R	probably benign	Het
Fv1	A	G	4: 147,954,726 (GRCm39)	S431G	probably benign	Het
Gm5965	A	T	16: 88,575,395 (GRCm39)	R189S	probably benign	Het
Gnas	A	G	2: 174,140,124 (GRCm39)	I98V	probably benign	Het
Ino80	T	C	2: 119,242,910 (GRCm39)	N1086D	possibly damaging	Het
Lclat1	T	C	17: 73,546,914 (GRCm39)	L277P	probably damaging	Het
Lipc	T	C	9: 70,759,864 (GRCm39)		probably benign	Het
Myo3a	T	C	2: 22,250,361 (GRCm39)	I76T	probably damaging	Het
Nkpd1	C	A	7: 19,258,201 (GRCm39)	A510E	probably damaging	Het
Nlgn2	G	T	11: 69,718,726 (GRCm39)	Q285K	possibly damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pcdh15	T	A	10: 74,340,611 (GRCm39)	V1115D	probably damaging	Het
Pdzd7	T	C	19: 45,016,230 (GRCm39)	S964G	probably benign	Het
Phip	G	T	9: 82,808,553 (GRCm39)	P474Q	probably benign	Het
Pop5	C	T	5: 115,378,496 (GRCm39)		probably benign	Het
Ppfibp1	A	T	6: 146,913,933 (GRCm39)		probably benign	Het
Rdh11	C	T	12: 79,235,279 (GRCm39)	A106T	probably benign	Het
Rin3	A	G	12: 102,339,975 (GRCm39)	T642A	probably damaging	Het
Scmh1	C	T	4: 120,362,478 (GRCm39)		probably benign	Het
Skint2	A	G	4: 112,481,377 (GRCm39)	H80R	possibly damaging	Het
Spata16	A	T	3: 26,831,686 (GRCm39)	N265I	probably damaging	Het
Srpk1	T	C	17: 28,818,446 (GRCm39)		probably null	Het
Tcaf1	T	C	6: 42,663,476 (GRCm39)	T135A	probably benign	Het
Trappc12	A	G	12: 28,796,389 (GRCm39)	V381A	probably damaging	Het
Trim33	T	A	3: 103,237,496 (GRCm39)	I184K	possibly damaging	Het
Unc13a	C	T	8: 72,116,889 (GRCm39)	V62M	probably damaging	Het
Vrk2	A	G	11: 26,448,919 (GRCm39)	V225A	probably damaging	Het
Wdr95	C	T	5: 149,487,879 (GRCm39)	P171L	probably damaging	Het
Wsb1	T	C	11: 79,139,262 (GRCm39)	T75A	probably 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
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
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
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'- CTCTGCAGCTAAGCATGTCG -3'
(R):5'- GGCTGGGATCTTAGTAAATTCCC -3'

Sequencing Primer
(F):5'- AGCTAAGCATGTCGTACTGC -3'
(R):5'- AAATTCCCTTTTTATTCTGTGCTTG -3'

Posted On

2016-10-06