Mutagenetix > Incidental Mutation

Incidental Mutation 'R7113:Podxl'

551618

Institutional Source

Beutler Lab

Gene Symbol

Podxl

Ensembl Gene

ENSMUSG00000025608

Gene Name

podocalyxin-like

Synonyms

podocalyxin, PC, Pclp1, Podxl1, Ly102

MMRRC Submission

045205-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31496428-31540872 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 31501668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026698]

AlphaFold

Q9R0M4

Predicted Effect

probably null
Transcript: ENSMUST00000026698

SMART Domains

Protein: ENSMUSP00000026698
Gene: ENSMUSG00000025608

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	61	91	N/A	INTRINSIC
low complexity region	104	130	N/A	INTRINSIC
low complexity region	196	208	N/A	INTRINSIC
low complexity region	265	278	N/A	INTRINSIC
Pfam:CD34_antigen	301	503	6e-76	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

95% (53/56)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality and severe kidney defects including absence of the podocyte slit diaphragm and foot processes and anuria. While a subset display edema and/or omphalocele, most mice appear normal at birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,449,267 (GRCm39)	S226P	probably benign	Het
Adarb2	T	C	13: 8,781,881 (GRCm39)	Y586H	probably damaging	Het
Ano7	A	T	1: 93,313,342 (GRCm39)	E160V	probably benign	Het
Apob	G	C	12: 8,045,539 (GRCm39)	A895P	probably damaging	Het
Ccdc157	T	C	11: 4,098,889 (GRCm39)	T206A	possibly damaging	Het
Ceacam18	A	G	7: 43,291,400 (GRCm39)	N281D	probably benign	Het
Chil4	T	C	3: 106,110,083 (GRCm39)	D337G	probably damaging	Het
Chil4	T	G	3: 106,121,664 (GRCm39)	K62Q	probably benign	Het
Cic	A	T	7: 24,972,869 (GRCm39)	I867F	probably benign	Het
Cntln	A	G	4: 84,968,064 (GRCm39)	E761G	probably damaging	Het
Cyp2d26	T	A	15: 82,674,403 (GRCm39)	Y493F	probably benign	Het
Dync2h1	A	T	9: 7,075,788 (GRCm39)	F3026L	probably benign	Het
Ehd3	T	A	17: 74,137,179 (GRCm39)	D449E	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Herc2	T	G	7: 55,853,597 (GRCm39)	D3696E	probably damaging	Het
Hivep3	T	A	4: 119,955,566 (GRCm39)	I1294N	probably damaging	Het
Il19	T	C	1: 130,862,732 (GRCm39)	I139V	probably benign	Het
Jmjd1c	T	A	10: 66,993,780 (GRCm39)	I87N	probably damaging	Het
Kcnma1	A	G	14: 23,513,224 (GRCm39)	Y392H	probably damaging	Het
Kcnv2	T	C	19: 27,301,448 (GRCm39)	L433P	probably damaging	Het
Kif9	A	T	9: 110,335,732 (GRCm39)	N378Y	probably damaging	Het
Lonrf1	A	T	8: 36,697,664 (GRCm39)	V440E	probably benign	Het
Lrrc37	A	G	11: 103,509,625 (GRCm39)	I781T	unknown	Het
Manea	A	T	4: 26,336,718 (GRCm39)	L186Q	probably damaging	Het
Mas1	A	G	17: 13,061,324 (GRCm39)	I33T	probably benign	Het
Med13l	A	G	5: 118,864,330 (GRCm39)	S389G	probably benign	Het
Nxph3	T	C	11: 95,401,892 (GRCm39)	N174S	possibly damaging	Het
Or1l4	T	A	2: 37,091,568 (GRCm39)	F105Y	possibly damaging	Het
Or8g52	G	C	9: 39,630,973 (GRCm39)	C150S	probably benign	Het
Pcdha5	A	G	18: 37,094,757 (GRCm39)	D422G	probably benign	Het
Pias4	A	C	10: 80,990,287 (GRCm39)	V416G	possibly damaging	Het
Pik3cg	T	A	12: 32,255,666 (GRCm39)	Y107F	probably damaging	Het
Plcg1	T	A	2: 160,590,203 (GRCm39)	W156R	possibly damaging	Het
Plcl2	A	G	17: 50,913,492 (GRCm39)	D167G	probably damaging	Het
Ppp1r2	T	C	16: 31,073,536 (GRCm39)	D197G	probably benign	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Rad17	A	T	13: 100,766,025 (GRCm39)	S368T	probably benign	Het
Rdh8	G	T	9: 20,736,623 (GRCm39)	R230L	probably benign	Het
Rpl35	A	C	2: 38,894,168 (GRCm39)	L58R	probably damaging	Het
Rtp3	A	C	9: 110,815,767 (GRCm39)	C199W	probably damaging	Het
S100pbp	G	A	4: 129,075,896 (GRCm39)	T143I	probably damaging	Het
Scarf1	A	G	11: 75,416,904 (GRCm39)	E782G	probably damaging	Het
Slc30a9	T	C	5: 67,484,205 (GRCm39)	V114A	probably benign	Het
Speer1c	G	A	5: 10,292,977 (GRCm39)	P189S		Het
Stpg2	G	A	3: 139,407,535 (GRCm39)		probably null	Het
Tdpoz1	T	C	3: 93,578,113 (GRCm39)	S224G	possibly damaging	Het
Triml2	T	A	8: 43,636,370 (GRCm39)	Y52N	probably benign	Het
Trpm2	A	T	10: 77,783,765 (GRCm39)	I236N	probably damaging	Het
Unc5c	A	G	3: 141,507,054 (GRCm39)	D602G	probably benign	Het
Upk1a	A	G	7: 30,309,236 (GRCm39)	S29P	probably damaging	Het
Vmn2r54	A	G	7: 12,350,001 (GRCm39)	L527P	probably damaging	Het
Vmn2r72	A	T	7: 85,399,011 (GRCm39)		probably null	Het
Vstm2l	G	T	2: 157,756,649 (GRCm39)		probably benign	Het
Vwf	G	T	6: 125,632,007 (GRCm39)	G1952V		Het
Zfand6	A	C	7: 84,265,077 (GRCm39)	I208S	probably damaging	Het
Zfp236	A	G	18: 82,638,462 (GRCm39)	I1386T	possibly damaging	Het

Other mutations in Podxl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Podxl	APN	6	31,505,639 (GRCm39)	missense	possibly damaging	0.53
IGL01576:Podxl	APN	6	31,501,319 (GRCm39)	missense	probably damaging	1.00
IGL02151:Podxl	APN	6	31,501,394 (GRCm39)	missense	possibly damaging	0.65
IGL02240:Podxl	APN	6	31,501,933 (GRCm39)	missense	probably damaging	1.00
IGL02487:Podxl	APN	6	31,499,957 (GRCm39)	makesense	probably null
IGL02598:Podxl	APN	6	31,501,355 (GRCm39)	missense	probably damaging	1.00
IGL02957:Podxl	APN	6	31,505,384 (GRCm39)	splice site	probably benign
R2042:Podxl	UTSW	6	31,500,051 (GRCm39)	missense	possibly damaging	0.75
R3840:Podxl	UTSW	6	31,500,016 (GRCm39)	missense	probably damaging	1.00
R4675:Podxl	UTSW	6	31,503,579 (GRCm39)	missense	possibly damaging	0.95
R5509:Podxl	UTSW	6	31,503,548 (GRCm39)	missense	probably benign	0.00
R5754:Podxl	UTSW	6	31,501,329 (GRCm39)	missense	probably damaging	1.00
R5876:Podxl	UTSW	6	31,505,391 (GRCm39)	critical splice donor site	probably null
R6242:Podxl	UTSW	6	31,503,180 (GRCm39)	missense	probably benign	0.30
R6376:Podxl	UTSW	6	31,505,432 (GRCm39)	missense	probably benign	0.00
R6493:Podxl	UTSW	6	31,501,981 (GRCm39)	missense	probably damaging	1.00
R7299:Podxl	UTSW	6	31,501,371 (GRCm39)	missense	probably damaging	1.00
R7301:Podxl	UTSW	6	31,501,371 (GRCm39)	missense	probably damaging	1.00
R7338:Podxl	UTSW	6	31,505,941 (GRCm39)	missense	unknown
R7358:Podxl	UTSW	6	31,501,929 (GRCm39)	missense	probably benign	0.03
R8799:Podxl	UTSW	6	31,501,400 (GRCm39)	missense	probably damaging	1.00
Z1176:Podxl	UTSW	6	31,505,569 (GRCm39)	missense	probably damaging	0.98
Z1177:Podxl	UTSW	6	31,505,459 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TTCATGTCACTGACTCCGGC -3'
(R):5'- TGTGCACTCTACATGTGGCC -3'

Sequencing Primer
(F):5'- GGAGTCCAGACCGTTTGTC -3'
(R):5'- GTGGCCCCTATTCTAGATAACCAGG -3'

Posted On

2019-05-15