Mutagenetix > Incidental Mutation

Incidental Mutation 'R1316:Podxl2'

157545

Institutional Source

Beutler Lab

Gene Symbol

Podxl2

Ensembl Gene

ENSMUSG00000033152

Gene Name

podocalyxin-like 2

Synonyms

PODLX2, Endoglycan, D130074J02Rik

MMRRC Submission

039382-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1316 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88819540-88852026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88826199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 369 (L369P)

Ref Sequence

ENSEMBL: ENSMUSP00000117954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038409] [ENSMUST00000061262] [ENSMUST00000140455] [ENSMUST00000145780] [ENSMUST00000145944]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038409
AA Change: L305P

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152
AA Change: L305P

Domain	Start	End	E-Value	Type
coiled coil region	88	125	N/A	INTRINSIC
low complexity region	132	152	N/A	INTRINSIC
Pfam:CD34_antigen	328	539	9e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061262
AA Change: L305P

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152
AA Change: L305P

Domain	Start	End	E-Value	Type
coiled coil region	88	125	N/A	INTRINSIC
low complexity region	132	152	N/A	INTRINSIC
Pfam:CD34_antigen	328	539	5.4e-70	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124562

Predicted Effect

probably benign
Transcript: ENSMUST00000140455

SMART Domains

Protein: ENSMUSP00000120870
Gene: ENSMUSG00000033152

Domain	Start	End	E-Value	Type
coiled coil region	88	125	N/A	INTRINSIC
low complexity region	139	149	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141348

SMART Domains

Protein: ENSMUSP00000121139
Gene: ENSMUSG00000033152

Domain	Start	End	E-Value	Type
Pfam:CD34_antigen	77	176	1.8e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142266

Predicted Effect

probably benign
Transcript: ENSMUST00000145780

SMART Domains

Protein: ENSMUSP00000120460
Gene: ENSMUSG00000033152

Domain	Start	End	E-Value	Type
coiled coil region	88	125	N/A	INTRINSIC
low complexity region	139	149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145944
AA Change: L369P

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152
AA Change: L369P

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	39	57	N/A	INTRINSIC
coiled coil region	152	189	N/A	INTRINSIC
low complexity region	196	216	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205158

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmembrane region, and a charged cytoplasmic tail. The encoded protein is a ligand for vascular selectins. [provided by RefSeq, Oct 2012]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Cmpk1	A	G	4: 114,828,487 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,619 (GRCm39)		probably null	Het
Ears2	T	C	7: 121,645,905 (GRCm39)	T337A	probably benign	Het
Erbin	T	C	13: 103,977,742 (GRCm39)	K605R	possibly damaging	Het
Irs3	T	C	5: 137,642,703 (GRCm39)	E245G	probably damaging	Het
Limch1	T	C	5: 67,156,586 (GRCm39)	I223T	probably damaging	Het
Lrp1b	T	C	2: 40,592,816 (GRCm39)	T3768A	probably benign	Het
Notch4	G	A	17: 34,786,444 (GRCm39)	D195N	probably damaging	Het
Or5b109	T	C	19: 13,211,803 (GRCm39)	F63S	probably damaging	Het
Or7g25	T	A	9: 19,160,035 (GRCm39)	Q220L	probably benign	Het
Or8b12b	T	C	9: 37,684,039 (GRCm39)	F28S	possibly damaging	Het
Or8u8	T	C	2: 86,011,709 (GRCm39)	S249G	probably benign	Het
Rnf149	A	G	1: 39,604,401 (GRCm39)	*45Q	probably null	Het
Scart2	T	C	7: 139,879,583 (GRCm39)	V957A	probably benign	Het
Slc4a11	T	A	2: 130,528,071 (GRCm39)	E528V	probably benign	Het
Slc9a1	A	G	4: 133,149,558 (GRCm39)	R795G	possibly damaging	Het
Slco6d1	A	T	1: 98,394,518 (GRCm39)	M401L	probably benign	Het
Tiparp	T	G	3: 65,460,772 (GRCm39)	F587C	probably damaging	Het
Vmn2r120	T	C	17: 57,832,939 (GRCm39)	Q80R	probably benign	Het

Other mutations in Podxl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01541:Podxl2	APN	6	88,826,331 (GRCm39)	missense	probably benign	0.00
IGL01642:Podxl2	APN	6	88,820,529 (GRCm39)	missense	probably damaging	1.00
R0295:Podxl2	UTSW	6	88,826,660 (GRCm39)	missense	probably benign	0.06
R0336:Podxl2	UTSW	6	88,826,577 (GRCm39)	missense	probably benign	0.12
R0625:Podxl2	UTSW	6	88,826,937 (GRCm39)	missense	possibly damaging	0.74
R1239:Podxl2	UTSW	6	88,826,965 (GRCm39)	missense	probably benign	0.35
R1650:Podxl2	UTSW	6	88,826,901 (GRCm39)	missense	probably benign	0.06
R1933:Podxl2	UTSW	6	88,826,587 (GRCm39)	missense	probably benign	0.05
R2338:Podxl2	UTSW	6	88,826,178 (GRCm39)	missense	probably damaging	1.00
R3500:Podxl2	UTSW	6	88,819,900 (GRCm39)	missense	probably damaging	1.00
R5243:Podxl2	UTSW	6	88,826,356 (GRCm39)	missense	probably benign	0.00
R5726:Podxl2	UTSW	6	88,825,721 (GRCm39)	missense	probably damaging	1.00
R5763:Podxl2	UTSW	6	88,826,805 (GRCm39)	missense	probably damaging	1.00
R6247:Podxl2	UTSW	6	88,826,299 (GRCm39)	nonsense	probably null
R6527:Podxl2	UTSW	6	88,819,912 (GRCm39)	missense	probably damaging	1.00
R7109:Podxl2	UTSW	6	88,820,566 (GRCm39)	missense	possibly damaging	0.56
R7129:Podxl2	UTSW	6	88,820,487 (GRCm39)	critical splice donor site	probably null
R7376:Podxl2	UTSW	6	88,826,632 (GRCm39)	missense	probably benign	0.01
R7539:Podxl2	UTSW	6	88,826,311 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCGGCCTGTGTGTATGAACAATG -3'
(R):5'- AGTGTGAAACCCACCTTGTCAGTG -3'

Sequencing Primer
(F):5'- TGTATGAACAATGACTTGGGCAC -3'
(R):5'- GTTCAGAACTATAGCCAGGAGTC -3'

Posted On

2014-02-18