Mutagenetix > Incidental Mutation

Incidental Mutation 'R0336:Podxl2'

34111

Institutional Source

Beutler Lab

Gene Symbol

Podxl2

Ensembl Gene

ENSMUSG00000033152

Gene Name

podocalyxin-like 2

Synonyms

PODLX2, Endoglycan, D130074J02Rik

MMRRC Submission

038545-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0336 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88819540-88852026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88826577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 243 (T243I)

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: T179I

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152
AA Change: T179I

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: T179I

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152
AA Change: T179I

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: T243I

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152
AA Change: T243I

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: ENSMUST00000205158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147542

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.1%
20x: 97.1%

Validation Efficiency

98% (62/63)

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
Abca13	A	G	11: 9,248,481 (GRCm39)	I2743V	probably benign	Het
Adamts16	A	G	13: 70,939,913 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,458,998 (GRCm39)	I427V	probably benign	Het
Arhgef1	T	A	7: 24,621,382 (GRCm39)	F510I	possibly damaging	Het
B3glct	A	G	5: 149,670,057 (GRCm39)	D342G	probably damaging	Het
Bcl2a1c	G	T	9: 114,159,353 (GRCm39)	V44F	probably damaging	Het
Brca1	A	G	11: 101,414,819 (GRCm39)	V1105A	probably benign	Het
Ccn5	C	A	2: 163,674,242 (GRCm39)	A214D	probably damaging	Het
Cep135	A	G	5: 76,749,349 (GRCm39)	H272R	probably benign	Het
Coa8	T	C	12: 111,700,092 (GRCm39)		probably benign	Het
Cog1	A	C	11: 113,553,076 (GRCm39)	H365P	probably benign	Het
Col12a1	A	T	9: 79,609,627 (GRCm39)	L293Q	probably damaging	Het
Col18a1	A	G	10: 76,894,570 (GRCm39)	L1493P	probably damaging	Het
Ctsh	A	G	9: 89,957,791 (GRCm39)	Y290C	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb39	G	T	8: 19,102,985 (GRCm39)	H37N	possibly damaging	Het
Epha3	A	G	16: 63,387,011 (GRCm39)	I875T	probably damaging	Het
Fbrsl1	A	G	5: 110,595,817 (GRCm39)	S73P	probably damaging	Het
Fga	T	C	3: 82,938,164 (GRCm39)	S180P	probably damaging	Het
Fndc1	C	T	17: 7,983,939 (GRCm39)	R1329Q	unknown	Het
Fyn	C	A	10: 39,402,897 (GRCm39)	T223K	possibly damaging	Het
Galnt6	A	T	15: 100,597,087 (GRCm39)	S360T	probably damaging	Het
Grsf1	C	A	5: 88,811,012 (GRCm39)	V336F	probably damaging	Het
Hip1	A	T	5: 135,457,467 (GRCm39)	Y720N	probably benign	Het
Hivep3	G	A	4: 119,961,044 (GRCm39)	E1700K	probably damaging	Het
Ifna6	T	C	4: 88,746,178 (GRCm39)	S176P	probably damaging	Het
Lilrb4b	T	A	10: 51,357,389 (GRCm39)	L75Q	probably benign	Het
Lrig3	C	T	10: 125,802,574 (GRCm39)	T77I	probably benign	Het
Mpped1	C	T	15: 83,720,483 (GRCm39)	P135L	probably damaging	Het
Mss51	T	A	14: 20,533,254 (GRCm39)	I406F	possibly damaging	Het
Mybpc2	T	C	7: 44,155,040 (GRCm39)	N956D	probably damaging	Het
Or4a27	T	C	2: 88,559,498 (GRCm39)	I148M	possibly damaging	Het
Polr2a	C	T	11: 69,627,719 (GRCm39)	R1396Q	possibly damaging	Het
Pramel51	T	C	12: 88,144,961 (GRCm39)	I122V	probably benign	Het
Pygm	C	T	19: 6,438,788 (GRCm39)	R205W	probably damaging	Het
Rfx3	A	G	19: 27,783,662 (GRCm39)	M428T	probably benign	Het
Ric1	A	T	19: 29,565,193 (GRCm39)	T647S	probably damaging	Het
Rictor	G	A	15: 6,806,234 (GRCm39)		probably null	Het
Rnf38	A	T	4: 44,152,350 (GRCm39)		probably benign	Het
Slc6a21	T	A	7: 44,935,892 (GRCm39)	I41K	probably damaging	Het
St8sia4	T	A	1: 95,581,283 (GRCm39)	D153V	probably benign	Het
Stk33	T	C	7: 108,930,681 (GRCm39)	N226S	probably benign	Het
Strn3	A	G	12: 51,708,391 (GRCm39)		probably null	Het
Tlr6	G	T	5: 65,111,289 (GRCm39)	N539K	probably benign	Het
Tmem129	G	T	5: 33,812,946 (GRCm39)	P134Q	probably damaging	Het
Tmem94	A	G	11: 115,678,211 (GRCm39)	I145V	probably benign	Het
Trap1	A	C	16: 3,862,490 (GRCm39)	V596G	probably damaging	Het
Tspan2	A	G	3: 102,642,343 (GRCm39)	I11V	probably null	Het
Ttc23	A	T	7: 67,312,231 (GRCm39)	H46L	probably benign	Het
Txnip	T	A	3: 96,467,295 (GRCm39)	D292E	probably benign	Het
Vmn1r121	T	A	7: 20,832,387 (GRCm39)	I18F	possibly damaging	Het
Vmn1r61	G	A	7: 5,614,066 (GRCm39)	H83Y	probably benign	Het
Vmn1r82	T	C	7: 12,039,248 (GRCm39)	S174P	probably benign	Het
Vmn2r79	A	C	7: 86,651,287 (GRCm39)	T229P	probably benign	Het
Vps13b	T	G	15: 35,455,279 (GRCm39)	Y729*	probably null	Het
Xdh	C	T	17: 74,229,458 (GRCm39)	V332M	possibly damaging	Het
Xkr5	C	A	8: 18,990,652 (GRCm39)	R205L	possibly damaging	Het
Zc3h4	T	C	7: 16,169,103 (GRCm39)	S1071P	unknown	Het
Zc3h6	A	G	2: 128,857,332 (GRCm39)	H617R	possibly damaging	Het
Zfp597	A	G	16: 3,684,243 (GRCm39)	V171A	probably benign	Het
Zfp709	T	C	8: 72,644,449 (GRCm39)	F626S	probably damaging	Het
Zfp944	C	A	17: 22,558,009 (GRCm39)	D413Y	probably damaging	Het
Zfp979	A	C	4: 147,697,592 (GRCm39)	S372R	possibly damaging	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
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
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'- CACTGTTTGTGGGAGTGAAGAGGAC -3'
(R):5'- TCCTGCCCAAGATGGATCTTGCTG -3'

Sequencing Primer
(F):5'- TGAAGAGGACGGCAGTGC -3'
(R):5'- ggaggaggaagaggaggag -3'

Posted On

2013-05-09