Mutagenetix > Incidental Mutation

Incidental Mutation 'R4257:Pbx2'

321875

Institutional Source

Beutler Lab

Gene Symbol

Pbx2

Ensembl Gene

ENSMUSG00000034673

Gene Name

pre B cell leukemia homeobox 2

Synonyms

G17

MMRRC Submission

041070-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34811233-34816374 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34813619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 184 (H184Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133766 (fasta)

Gene Model

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

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: H266Q

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

SMART Domains

Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673
AA Change: H266Q

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

possibly damaging
Transcript: ENSMUST00000183827
AA Change: H206Q

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139079
Gene: ENSMUSG00000034673
AA Change: H206Q

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

probably damaging
Transcript: ENSMUST00000173328
AA Change: H184Q

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

SMART Domains

Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673
AA Change: H184Q

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

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: ENSMUST00000173551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173229

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

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: 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: 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: ENSMUST00000174532

SMART Domains

Protein: ENSMUSP00000133744
Gene: ENSMUSG00000034673

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

Meta Mutation Damage Score

0.5291

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (39/39)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	C	T	7: 126,430,662 (GRCm39)		probably benign	Het
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Akap13	T	A	7: 75,261,033 (GRCm39)	I1219K	probably damaging	Het
Arfgef1	T	C	1: 10,229,771 (GRCm39)		probably benign	Het
Arhgap24	A	G	5: 102,811,983 (GRCm39)	E70G	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Babam2	T	C	5: 31,859,414 (GRCm39)	S40P	possibly damaging	Het
Brwd1	A	G	16: 95,824,696 (GRCm39)	V1190A	probably damaging	Het
Ccpg1	A	G	9: 72,919,909 (GRCm39)	E508G	probably damaging	Het
Ckm	T	C	7: 19,155,279 (GRCm39)	S372P	probably benign	Het
Egflam	T	A	15: 7,283,907 (GRCm39)		probably null	Het
Farp1	G	A	14: 121,492,891 (GRCm39)	V498M	probably benign	Het
Galnt14	T	A	17: 73,811,899 (GRCm39)	I441F	probably benign	Het
Gm5414	A	G	15: 101,533,107 (GRCm39)	L440P	probably damaging	Het
Gm6563	A	G	19: 23,653,339 (GRCm39)	E43G	possibly damaging	Het
Gm9755	A	T	8: 67,967,129 (GRCm39)		noncoding transcript	Het
Gmds	A	G	13: 32,004,172 (GRCm39)	S337P	possibly damaging	Het
L3mbtl3	T	A	10: 26,156,020 (GRCm39)	Q754L	unknown	Het
Ltk	G	A	2: 119,583,485 (GRCm39)	T300I	possibly damaging	Het
Or5d46	A	C	2: 88,170,621 (GRCm39)	K237N	probably damaging	Het
Plxna2	T	C	1: 194,327,083 (GRCm39)	F339S	probably damaging	Het
Prkaa2	A	T	4: 104,897,153 (GRCm39)	D353E	probably benign	Het
Prss36	G	A	7: 127,532,010 (GRCm39)		probably benign	Het
Rimbp2	A	G	5: 128,851,324 (GRCm39)	V874A	probably damaging	Het
Rspo2	C	A	15: 42,939,307 (GRCm39)	R161L	probably benign	Het
Ryr1	T	C	7: 28,781,875 (GRCm39)	D2038G	possibly damaging	Het
Stkld1	A	G	2: 26,833,146 (GRCm39)	M111V	probably benign	Het
Tprn	A	G	2: 25,154,494 (GRCm39)	I599V	probably damaging	Het
Upp2	A	T	2: 58,670,106 (GRCm39)	I219F	probably damaging	Het
Vmn2r94	A	T	17: 18,464,433 (GRCm39)	F619Y	probably damaging	Het
Xirp2	A	G	2: 67,346,383 (GRCm39)	T2875A	probably benign	Het
Zfp64	A	G	2: 168,768,298 (GRCm39)	L438P	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
IGL01923:Pbx2	APN	17	34,813,024 (GRCm39)	missense	probably damaging	1.00
R1748:Pbx2	UTSW	17	34,812,951 (GRCm39)	missense	possibly damaging	0.81
R2182:Pbx2	UTSW	17	34,814,640 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- GTCATGATCCTGCGTTCTCG -3'
(R):5'- CCAGTTGGAAACCTGCAGTG -3'

Sequencing Primer
(F):5'- AGGTCGGGCTCAGGAAC -3'
(R):5'- AAACCTGCAGTGTCGGG -3'

Posted On

2015-06-20