Mutagenetix > Incidental Mutation

Incidental Mutation 'R1650:Podxl2'

256145

Institutional Source

Beutler Lab

Gene Symbol

Podxl2

Ensembl Gene

ENSMUSG00000033152

Gene Name

podocalyxin-like 2

Synonyms

PODLX2, Endoglycan, D130074J02Rik

MMRRC Submission

039686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1650 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

88819540-88852026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88826901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 71 (P71L)

Ref Sequence

ENSEMBL: ENSMUSP00000120460 (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: P71L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152
AA Change: P71L

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: P71L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152
AA Change: P71L

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
AA Change: P71L

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120870
Gene: ENSMUSG00000033152
AA Change: P71L

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
AA Change: P71L

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120460
Gene: ENSMUSG00000033152
AA Change: P71L

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: P135L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152
AA Change: P135L

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

Meta Mutation Damage Score

0.0639

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.0%
20x: 83.4%

Validation Efficiency

99% (86/87)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	G	2: 103,532,747 (GRCm39)	V515G	probably damaging	Het
Ark2c	A	C	18: 77,550,113 (GRCm39)		probably null	Het
Arl5a	A	T	2: 52,302,117 (GRCm39)	I99N	probably damaging	Het
Atp8b1	A	G	18: 64,704,620 (GRCm39)		probably benign	Het
Bag4	T	A	8: 26,267,452 (GRCm39)	Q126L	probably damaging	Het
Ccser1	A	G	6: 61,615,474 (GRCm39)	T659A	probably benign	Het
Cenpn	A	G	8: 117,661,498 (GRCm39)	D199G	probably damaging	Het
Cfhr3	A	G	1: 139,521,564 (GRCm39)		noncoding transcript	Het
Clca3a2	T	A	3: 144,797,973 (GRCm39)	H164L	probably damaging	Het
Col5a1	C	A	2: 27,812,171 (GRCm39)	S84R	unknown	Het
Ctsc	T	A	7: 87,930,634 (GRCm39)	L71*	probably null	Het
Cyp2c70	A	G	19: 40,153,921 (GRCm39)	Y223H	probably benign	Het
Dbt	A	G	3: 116,328,381 (GRCm39)		probably null	Het
Dlg2	T	C	7: 92,080,259 (GRCm39)	V614A	probably damaging	Het
Dll4	T	C	2: 119,161,611 (GRCm39)	S398P	probably damaging	Het
Dyrk4	T	C	6: 126,876,792 (GRCm39)	K62E	probably benign	Het
Fgf22	A	T	10: 79,591,023 (GRCm39)	Y24F	probably damaging	Het
Ggt5	A	G	10: 75,440,595 (GRCm39)	R239G	probably benign	Het
Gm11360	C	T	13: 28,140,379 (GRCm39)	A81V	unknown	Het
Htr5b	T	A	1: 121,455,891 (GRCm39)	T10S	probably benign	Het
Igsf10	T	C	3: 59,233,583 (GRCm39)	R1717G	probably damaging	Het
Itsn2	T	A	12: 4,687,767 (GRCm39)	V556D	probably damaging	Het
Kdm3b	T	C	18: 34,942,168 (GRCm39)	V553A	possibly damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lca5l	T	C	16: 95,980,140 (GRCm39)		probably null	Het
Lmbrd1	T	C	1: 24,750,639 (GRCm39)	W171R	probably damaging	Het
Lrp6	T	C	6: 134,445,732 (GRCm39)	Y1027C	probably benign	Het
Macf1	A	T	4: 123,350,393 (GRCm39)	Y1702*	probably null	Het
Mon2	T	C	10: 122,831,682 (GRCm39)	I1675V	probably benign	Het
Mtcl1	T	A	17: 66,692,871 (GRCm39)	K486M	probably damaging	Het
Nek1	A	T	8: 61,489,110 (GRCm39)	H338L	probably benign	Het
Ola1	A	T	2: 72,987,238 (GRCm39)	D131E	possibly damaging	Het
Olr1	T	A	6: 129,484,052 (GRCm39)	M7L	probably benign	Het
Or1f12	T	C	13: 21,721,249 (GRCm39)	N294D	probably damaging	Het
Or4k36	C	T	2: 111,146,640 (GRCm39)	A272V	probably benign	Het
Or5t18	A	T	2: 86,637,091 (GRCm39)	M84K	possibly damaging	Het
Or5w10	C	A	2: 87,375,772 (GRCm39)	V39L	probably benign	Het
Or7g27	T	G	9: 19,249,943 (GRCm39)	F62L	possibly damaging	Het
Or9m2	C	T	2: 87,821,145 (GRCm39)	A230V	probably benign	Het
Pan2	G	A	10: 128,153,768 (GRCm39)	E980K	probably damaging	Het
Pgm1	C	A	4: 99,819,276 (GRCm39)	Q149K	probably benign	Het
Pgm1	A	G	4: 99,819,267 (GRCm39)	K146E	possibly damaging	Het
Phlpp2	T	C	8: 110,660,587 (GRCm39)		probably benign	Het
Plekhs1	G	T	19: 56,459,474 (GRCm39)	G75C	probably damaging	Het
Plin4	G	A	17: 56,411,931 (GRCm39)	T700I	probably damaging	Het
Pot1a	A	T	6: 25,745,964 (GRCm39)	V579D	probably damaging	Het
Poteg	A	G	8: 27,953,813 (GRCm39)	D318G	probably benign	Het
Ppp4r3a	A	T	12: 101,010,878 (GRCm39)	D554E	probably damaging	Het
Proser3	G	A	7: 30,239,751 (GRCm39)	A451V	probably damaging	Het
Shld2	T	A	14: 33,981,574 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,211,366 (GRCm39)		probably benign	Het
Syce1	C	A	7: 140,358,300 (GRCm39)	C216F	possibly damaging	Het
Syne2	A	T	12: 75,951,033 (GRCm39)	K395*	probably null	Het
Trim28	G	A	7: 12,764,776 (GRCm39)	G831D	possibly damaging	Het
Tyw1	A	G	5: 130,317,752 (GRCm39)	I434V	possibly damaging	Het
Ubox5	G	A	2: 130,442,345 (GRCm39)	A114V	probably benign	Het
Ubqln3	C	T	7: 103,790,228 (GRCm39)	V621I	possibly damaging	Het
Unc79	A	G	12: 103,079,052 (GRCm39)	D1543G	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Wrnip1	C	A	13: 32,989,362 (GRCm39)	H283Q	probably benign	Het
Zan	A	T	5: 137,392,863 (GRCm39)		probably benign	Het
Zcchc10	A	T	11: 53,218,229 (GRCm39)	K1*	probably null	Het
Zfp592	T	A	7: 80,687,848 (GRCm39)	S925T	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
R1316:Podxl2	UTSW	6	88,826,199 (GRCm39)	missense	probably benign	0.05
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'- ACTGACAAGGTGGGTTTCACACTG -3'
(R):5'- CACCGCATGGGAACACTACTCTTC -3'

Sequencing Primer
(F):5'- TGGCCTGGTCTCCAGAATC -3'
(R):5'- ATGGGAACACTACTCTTCTTTCATAC -3'

Posted On

2014-12-31