Mutagenetix > Incidental Mutation

Incidental Mutation 'R5509:Podxl'

431072

Institutional Source

Beutler Lab

Gene Symbol

Podxl

Ensembl Gene

ENSMUSG00000025608

Gene Name

podocalyxin-like

Synonyms

podocalyxin, PC, Pclp1, Podxl1, Ly102

MMRRC Submission

043070-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5509 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31496428-31540872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31503548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 264 (N264K)

Ref Sequence

ENSEMBL: ENSMUSP00000026698 (fasta)

Gene Model

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

AlphaFold

Q9R0M4

Predicted Effect

probably benign
Transcript: ENSMUST00000026698
AA Change: N264K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000026698
Gene: ENSMUSG00000025608
AA Change: N264K

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

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.5%
20x: 91.6%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	C	17: 46,635,185 (GRCm39)	Q273E	probably benign	Het
Acly	C	T	11: 100,405,805 (GRCm39)	R329Q	probably damaging	Het
Acsm2	T	C	7: 119,172,840 (GRCm39)	S152P	probably damaging	Het
Adamtsl4	A	T	3: 95,588,667 (GRCm39)	I515N	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Atp9a	T	C	2: 168,481,857 (GRCm39)	D879G	probably damaging	Het
Bmp8b	G	A	4: 123,008,369 (GRCm39)	D112N	possibly damaging	Het
Camk2d	T	C	3: 126,633,965 (GRCm39)	W496R	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Cflar	T	C	1: 58,791,551 (GRCm39)	F285L	probably benign	Het
Cox16	T	C	12: 81,519,032 (GRCm39)	T176A	probably benign	Het
Cux1	G	T	5: 136,304,171 (GRCm39)	A1214D	probably benign	Het
Cyb5d1	C	A	11: 69,284,561 (GRCm39)		probably null	Het
Dennd6b	G	A	15: 89,069,225 (GRCm39)	P575S	probably damaging	Het
Fbxl2	A	T	9: 113,814,415 (GRCm39)		probably null	Het
Gfpt2	T	C	11: 49,717,973 (GRCm39)	F483L	possibly damaging	Het
Glrx3	T	C	7: 137,046,751 (GRCm39)	C48R	probably damaging	Het
Invs	G	A	4: 48,396,337 (GRCm39)	V281M	probably damaging	Het
Kif13a	G	A	13: 46,905,591 (GRCm39)	A784V	probably benign	Het
Kmt2d	T	C	15: 98,737,557 (GRCm39)		probably benign	Het
Lmod2	A	G	6: 24,603,888 (GRCm39)	T288A	probably damaging	Het
Lrrc37a	T	C	11: 103,391,361 (GRCm39)	K1355E	probably benign	Het
Magi3	A	T	3: 103,922,818 (GRCm39)	S1300T	probably benign	Het
Mdm2	A	C	10: 117,526,517 (GRCm39)	D307E	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mroh4	T	C	15: 74,478,003 (GRCm39)	Y901C	probably benign	Het
Mtmr14	G	T	6: 113,230,768 (GRCm39)		probably null	Het
Mug2	A	T	6: 122,061,340 (GRCm39)	Q1420L	possibly damaging	Het
Net1	T	C	13: 3,934,320 (GRCm39)	Q459R	probably benign	Het
Nle1	T	C	11: 82,794,008 (GRCm39)	R343G	possibly damaging	Het
Npat	C	A	9: 53,481,542 (GRCm39)	N1083K	probably benign	Het
Nrp1	G	A	8: 129,152,396 (GRCm39)	G202R	possibly damaging	Het
Nsun4	C	T	4: 115,908,974 (GRCm39)	V529I	possibly damaging	Het
Or4b1d	T	A	2: 89,969,236 (GRCm39)	L82F	probably damaging	Het
Or4z4	T	A	19: 12,076,341 (GRCm39)	I221F	possibly damaging	Het
Or5b117	A	T	19: 13,431,332 (GRCm39)	L183Q	probably damaging	Het
Or8g21	T	C	9: 38,905,924 (GRCm39)	D269G	probably benign	Het
Ptprm	C	T	17: 66,996,353 (GRCm39)	A1245T	probably damaging	Het
Rdh12	T	A	12: 79,257,558 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,760,487 (GRCm39)	Y1532F	probably damaging	Het
Senp2	T	C	16: 21,859,272 (GRCm39)	F441S	probably damaging	Het
Snap23	C	A	2: 120,425,346 (GRCm39)	P111T	probably benign	Het
Sox2	A	G	3: 34,704,938 (GRCm39)	D125G	probably damaging	Het
Syne2	T	C	12: 75,968,018 (GRCm39)	W923R	probably damaging	Het
Tbc1d2b	T	C	9: 90,101,022 (GRCm39)	E656G	probably damaging	Het
Tbcd	A	G	11: 121,492,838 (GRCm39)	T892A	probably benign	Het
Tg	A	G	15: 66,699,142 (GRCm39)	I24V	probably benign	Het
Trpm3	A	T	19: 22,964,622 (GRCm39)	K1372N	probably damaging	Het
Ubc	A	T	5: 125,464,339 (GRCm39)	N329K	probably benign	Het
Vmn2r106	T	A	17: 20,498,684 (GRCm39)	H409L	probably damaging	Het
Wdfy3	T	A	5: 102,009,314 (GRCm39)	N2751Y	possibly damaging	Het
Zfp518a	T	A	19: 40,903,845 (GRCm39)	I1258K	possibly damaging	Het
Zfp91	T	C	19: 12,756,451 (GRCm39)	E131G	probably damaging	Het
Zfyve26	T	A	12: 79,293,295 (GRCm39)	R2027W	probably 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
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
R7113:Podxl	UTSW	6	31,501,668 (GRCm39)	critical splice acceptor site	probably null
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'- AGTCAGTTTCTCAGACAGGAGTAC -3'
(R):5'- AAGACTGTGTTCTCCTCAGCC -3'

Sequencing Primer
(F):5'- CTGCCCAGGGGTCAGAATAG -3'
(R):5'- GCCTTTGCCTTGTCTGTTACAGAAC -3'

Posted On

2016-10-05