Mutagenetix > Incidental Mutations

Incidental Mutation 'R2042:Podxl'

225052

Institutional Source

Beutler Lab

Gene Symbol

Podxl

Ensembl Gene

ENSMUSG00000025608

Gene Name

podocalyxin-like

Synonyms

PC, Ly102, podocalyxin, Pclp1

MMRRC Submission

040049-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31519488-31563981 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31523116 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 473 (V473A)

Ref Sequence

ENSEMBL: ENSMUSP00000026698 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026698
AA Change: V473A

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026698
Gene: ENSMUSG00000025608
AA Change: V473A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136877

Meta Mutation Damage Score

0.1076

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,416,728		probably benign	Het
9130019O22Rik	A	T	7: 127,385,469	C154S	possibly damaging	Het
Abca16	G	A	7: 120,544,718	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,785,819	Y176F	probably damaging	Het
Ano6	T	C	15: 95,956,023		probably null	Het
Atr	T	C	9: 95,870,022	L564S	probably benign	Het
Birc6	C	G	17: 74,609,659	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,704,308	A148T	probably damaging	Het
Cd53	T	A	3: 106,767,424		probably null	Het
Celsr2	A	G	3: 108,402,495	F1596S	probably damaging	Het
Cep120	A	T	18: 53,735,742	F122I	possibly damaging	Het
Ckm	A	T	7: 19,414,157	H7L	possibly damaging	Het
Crybg2	T	C	4: 134,087,533	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,112,538	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,666,108	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,215,849	S570T	probably damaging	Het
Dmbt1	A	G	7: 131,106,359	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,635,658	V98A	probably benign	Het
Dtx1	T	G	5: 120,694,476	N299T	probably benign	Het
Efr3b	T	A	12: 3,984,627	D65V	probably damaging	Het
Eml4	T	C	17: 83,448,178	C323R	probably damaging	Het
Eps15	C	T	4: 109,304,767	T31I	probably damaging	Het
Fam160a2	G	T	7: 105,384,121	Y629*	probably null	Het
Fam205c	C	T	4: 42,874,030	C46Y	possibly damaging	Het
Fam46b	T	C	4: 133,486,613	V265A	possibly damaging	Het
Fam91a1	A	G	15: 58,426,594	I184V	probably benign	Het
Fbxl8	A	T	8: 105,268,224	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,732,704	T141P	probably damaging	Het
Glra3	G	A	8: 56,062,459	D190N	probably benign	Het
Hspg2	T	C	4: 137,568,366	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,363,503	R65W	probably damaging	Het
Irs2	A	G	8: 11,007,580	I284T	probably damaging	Het
Klhl22	T	C	16: 17,792,420		probably benign	Het
Lmcd1	T	A	6: 112,315,890	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,363,442	K173R	probably benign	Het
Magi1	A	T	6: 93,755,045	N209K	probably benign	Het
Mak	A	C	13: 41,049,436	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,277,983	R87L	probably damaging	Het
Map4k1	T	C	7: 28,984,130	L53P	probably damaging	Het
Melk	T	C	4: 44,309,051		probably null	Het
Mks1	C	T	11: 87,856,668		probably benign	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
N4bp2	C	T	5: 65,826,621	P1670S	probably damaging	Het
Ncf1	C	G	5: 134,226,640	Q132H	probably benign	Het
Nemp1	T	C	10: 127,696,334	S370P	possibly damaging	Het
Nt5c3b	T	C	11: 100,436,194	H92R	probably benign	Het
Olfr1180	G	A	2: 88,412,202	A152V	possibly damaging	Het
Olfr527	T	C	7: 140,335,937	L25P	probably damaging	Het
P4ha3	T	C	7: 100,300,690		probably null	Het
Pcnx	C	A	12: 81,918,293	H411Q	probably damaging	Het
Prkd2	T	C	7: 16,856,268	S530P	possibly damaging	Het
Scin	A	G	12: 40,077,510	I427T	possibly damaging	Het
Sgo2b	T	C	8: 63,928,527	T424A	probably benign	Het
Slc22a2	T	C	17: 12,599,125	I196T	probably benign	Het
Slc47a2	C	A	11: 61,338,082	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386	V99M	probably damaging	Het
Sprr2k	T	C	3: 92,433,456		probably benign	Het
Spta1	G	A	1: 174,211,647	M1185I	probably benign	Het
Uaca	T	C	9: 60,869,891	V518A	probably damaging	Het
Ubr3	C	T	2: 69,977,774	Q1200*	probably null	Het
Ufm1	A	G	3: 53,859,281		probably benign	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp142	G	A	1: 74,570,619	T1236I	probably benign	Het
Zfp236	A	G	18: 82,633,109	Y845H	probably damaging	Het
Zfp787	T	C	7: 6,132,764	K163E	possibly damaging	Het

Other mutations in Podxl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Podxl	APN	6	31528704	missense	possibly damaging	0.53
IGL01576:Podxl	APN	6	31524384	missense	probably damaging	1.00
IGL02151:Podxl	APN	6	31524459	missense	possibly damaging	0.65
IGL02240:Podxl	APN	6	31524998	missense	probably damaging	1.00
IGL02487:Podxl	APN	6	31523022	makesense	probably null
IGL02598:Podxl	APN	6	31524420	missense	probably damaging	1.00
IGL02957:Podxl	APN	6	31528449	splice site	probably benign
R3840:Podxl	UTSW	6	31523081	missense	probably damaging	1.00
R4675:Podxl	UTSW	6	31526644	missense	possibly damaging	0.95
R5509:Podxl	UTSW	6	31526613	missense	probably benign	0.00
R5754:Podxl	UTSW	6	31524394	missense	probably damaging	1.00
R5876:Podxl	UTSW	6	31528456	critical splice donor site	probably null
R6242:Podxl	UTSW	6	31526245	missense	probably benign	0.30
R6376:Podxl	UTSW	6	31528497	missense	probably benign	0.00
R6493:Podxl	UTSW	6	31525046	missense	probably damaging	1.00
R7113:Podxl	UTSW	6	31524733	critical splice acceptor site	probably null
R7299:Podxl	UTSW	6	31524436	missense	probably damaging	1.00
R7301:Podxl	UTSW	6	31524436	missense	probably damaging	1.00
R7338:Podxl	UTSW	6	31529006	missense	unknown
R7358:Podxl	UTSW	6	31524994	missense	probably benign	0.03
Z1176:Podxl	UTSW	6	31528634	missense	probably damaging	0.98
Z1177:Podxl	UTSW	6	31528524	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TCTTCAGGTGGGAAGATTTCC -3'
(R):5'- ACCACGGGAATTTAATCTGGCC -3'

Sequencing Primer
(F):5'- GGAAGATTTCCCCCTCCCTG -3'
(R):5'- AATCTGGCCAACTTGAGGTC -3'

Posted On

2014-08-25