Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01923:Pbx2'

180163

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pbx2

Ensembl Gene

ENSMUSG00000034673

Gene Name

pre B cell leukemia homeobox 2

Synonyms

G17

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01923

Quality Score

Status

Chromosome

Chromosomal Location

34811233-34816374 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34813024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 160 (D160G)

Ref Sequence

ENSEMBL: ENSMUSP00000040464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015596] [ENSMUST00000038149] [ENSMUST00000038244] [ENSMUST00000150924] [ENSMUST00000173328] [ENSMUST00000174532] [ENSMUST00000183827] [ENSMUST00000174069] [ENSMUST00000173772] [ENSMUST00000173992] [ENSMUST00000174496]

AlphaFold

O35984

Predicted Effect

probably benign
Transcript: ENSMUST00000015596

SMART Domains

Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	4.3e-24	PFAM
IGc2	248	306	7.63e-18	SMART
transmembrane domain	339	361	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000038149
AA Change: D160G

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

SMART Domains

Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673
AA Change: D160G

Domain	Start	End	E-Value	Type
low complexity region	7	49	N/A	INTRINSIC
Pfam:PBC	50	243	1.3e-97	PFAM
HOX	244	309	1.9e-18	SMART
low complexity region	327	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038244

SMART Domains

Protein: ENSMUSP00000045911
Gene: ENSMUSG00000034786

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
GoLoco	61	83	2.02e-6	SMART
low complexity region	86	100	N/A	INTRINSIC
GoLoco	103	125	2.42e-4	SMART
GoLoco	131	154	4.05e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172932

SMART Domains

Protein: ENSMUSP00000133660
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173328
AA Change: D78G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673
AA Change: D78G

Domain	Start	End	E-Value	Type
Pfam:PBC	1	161	5e-84	PFAM
HOX	162	227	1.9e-18	SMART
low complexity region	245	271	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174532
AA Change: D78G

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

SMART Domains

Protein: ENSMUSP00000133744
Gene: ENSMUSG00000034673
AA Change: D78G

Domain	Start	End	E-Value	Type
Pfam:PBC	1	148	3.5e-74	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183827
AA Change: D100G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139079
Gene: ENSMUSG00000034673
AA Change: D100G

Domain	Start	End	E-Value	Type
Pfam:PBC	1	183	9.5e-98	PFAM
HOX	184	249	1.9e-18	SMART
low complexity region	267	293	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173589

SMART Domains

Protein: ENSMUSP00000133845
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173229

Predicted Effect

probably benign
Transcript: ENSMUST00000174069

SMART Domains

Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	2.5e-24	PFAM
IGc2	248	306	7.63e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173772

SMART Domains

Protein: ENSMUSP00000134130
Gene: ENSMUSG00000034786

Domain	Start	End	E-Value	Type
GoLoco	27	50	4.05e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173992

SMART Domains

Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	108	3.23e-7	SMART
Pfam:C2-set_2	114	208	3.3e-24	PFAM
IGc2	239	297	7.63e-18	SMART
transmembrane domain	321	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174496

SMART Domains

Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	3.4e-24	PFAM
IGc2	248	306	7.63e-18	SMART
transmembrane domain	330	352	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile with no apparent abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	A	5: 129,255,143 (GRCm39)	S597T	possibly damaging	Het
Btnl9	T	C	11: 49,071,409 (GRCm39)	D138G	probably benign	Het
Cep135	T	A	5: 76,788,829 (GRCm39)	*1141K	probably null	Het
Ctnnd2	A	T	15: 30,480,974 (GRCm39)	Q74L	probably damaging	Het
Cyp2j13	A	T	4: 95,950,294 (GRCm39)	W236R	probably benign	Het
Dixdc1	A	T	9: 50,606,803 (GRCm39)	I271N	possibly damaging	Het
Dlec1	A	G	9: 118,957,182 (GRCm39)		probably null	Het
Dnah9	C	A	11: 66,016,061 (GRCm39)		probably benign	Het
Dop1a	A	T	9: 86,404,920 (GRCm39)	Y275F	probably damaging	Het
Dysf	T	A	6: 84,187,811 (GRCm39)	*2105R	probably null	Het
Eif4a1	A	T	11: 69,563,129 (GRCm39)	D25E	possibly damaging	Het
Fras1	T	A	5: 96,883,139 (GRCm39)	I2557N	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm12253	G	T	11: 58,325,727 (GRCm39)		probably null	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hsd17b7	A	G	1: 169,787,035 (GRCm39)	V254A	probably benign	Het
Kif21a	T	A	15: 90,840,633 (GRCm39)	D143V	probably damaging	Het
Lrrc9	T	C	12: 72,557,186 (GRCm39)	V1417A	possibly damaging	Het
Macf1	C	T	4: 123,274,237 (GRCm39)	A4926T	possibly damaging	Het
Mef2a	A	C	7: 66,914,620 (GRCm39)	S91R	probably damaging	Het
Myh7	A	G	14: 55,222,916 (GRCm39)		probably null	Het
Or6c65	T	A	10: 129,603,973 (GRCm39)	F203I	probably benign	Het
Pcdhb17	T	C	18: 37,619,790 (GRCm39)	F527L	probably benign	Het
Ppm1b	T	C	17: 85,301,489 (GRCm39)	L123P	probably damaging	Het
Ppm1k	T	A	6: 57,499,813 (GRCm39)	K154N	probably benign	Het
Ppp2r1a	T	G	17: 21,185,731 (GRCm39)	*590G	probably null	Het
Raver1	A	T	9: 20,990,536 (GRCm39)	L589Q	probably damaging	Het
Rrbp1	A	G	2: 143,832,081 (GRCm39)	S29P	probably damaging	Het
Senp5	A	G	16: 31,784,634 (GRCm39)	Y673H	probably damaging	Het
Serpina3j	T	A	12: 104,281,473 (GRCm39)		probably benign	Het
Serpinc1	A	G	1: 160,817,116 (GRCm39)	E70G	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stag3	A	G	5: 138,287,492 (GRCm39)	Q139R	probably damaging	Het
Sva	T	A	6: 42,019,104 (GRCm39)	H91Q	probably benign	Het
Tmem263	C	T	10: 84,950,295 (GRCm39)	Q29*	probably null	Het
Tpp1	T	C	7: 105,400,857 (GRCm39)	N57D	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r27	T	A	6: 124,177,484 (GRCm39)	I507L	probably benign	Het
Wdr11	A	T	7: 129,234,046 (GRCm39)		probably null	Het
Zfp236	C	T	18: 82,700,344 (GRCm39)	E42K	probably damaging	Het

Other mutations in Pbx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01588:Pbx2	APN	17	34,814,592 (GRCm39)	splice site	probably benign
R1748:Pbx2	UTSW	17	34,812,951 (GRCm39)	missense	possibly damaging	0.81
R2182:Pbx2	UTSW	17	34,814,640 (GRCm39)	nonsense	probably null
R4257:Pbx2	UTSW	17	34,813,619 (GRCm39)	missense	probably damaging	1.00
R5011:Pbx2	UTSW	17	34,813,673 (GRCm39)	nonsense	probably null
R6161:Pbx2	UTSW	17	34,812,574 (GRCm39)	missense	probably damaging	1.00
R6888:Pbx2	UTSW	17	34,813,081 (GRCm39)	missense	possibly damaging	0.75
R8047:Pbx2	UTSW	17	34,814,262 (GRCm39)	missense	probably benign	0.00
R8315:Pbx2	UTSW	17	34,811,707 (GRCm39)	missense	probably damaging	0.99
R8930:Pbx2	UTSW	17	34,813,563 (GRCm39)	missense	probably damaging	1.00
R8932:Pbx2	UTSW	17	34,813,563 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07