Mutagenetix > Incidental Mutation

Incidental Mutation 'R5754:Podxl'

444947

Institutional Source

Beutler Lab

Gene Symbol

Podxl

Ensembl Gene

ENSMUSG00000025608

Gene Name

podocalyxin-like

Synonyms

podocalyxin, PC, Pclp1, Podxl1, Ly102

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5754 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31496428-31540872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31501329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 409 (I409F)

Ref Sequence

ENSEMBL: ENSMUSP00000026698 (fasta)

Gene Model

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

AlphaFold

Q9R0M4

Predicted Effect

probably damaging
Transcript: ENSMUST00000026698
AA Change: I409F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026698
Gene: ENSMUSG00000025608
AA Change: I409F

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

0.4920

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,984,320 (GRCm39)	N683K	probably benign	Het
Atad2b	T	A	12: 5,060,351 (GRCm39)	H915Q	probably benign	Het
Bltp2	T	C	11: 78,160,367 (GRCm39)	S609P	probably damaging	Het
Camk1d	G	T	2: 5,449,908 (GRCm39)	P91Q	probably benign	Het
Camk1d	G	C	2: 5,449,910 (GRCm39)	S90R	probably damaging	Het
Card11	T	C	5: 140,885,524 (GRCm39)	E345G	probably damaging	Het
Ccpg1	G	T	9: 72,920,526 (GRCm39)	V714L	possibly damaging	Het
Chst9	T	C	18: 15,586,254 (GRCm39)	E103G	possibly damaging	Het
Cnga1	C	T	5: 72,762,615 (GRCm39)	V300I	probably benign	Het
Crb1	T	C	1: 139,159,337 (GRCm39)	Y1295C	probably damaging	Het
Dnah5	A	G	15: 28,402,014 (GRCm39)	T3392A	probably benign	Het
Elp3	C	A	14: 65,785,439 (GRCm39)	R473L	probably damaging	Het
Epgn	T	A	5: 91,181,807 (GRCm39)	I145N	probably benign	Het
Fam107b	G	A	2: 3,779,457 (GRCm39)	G220D	probably damaging	Het
Fbn2	A	G	18: 58,257,383 (GRCm39)	V328A	probably benign	Het
Fn1	A	T	1: 71,639,481 (GRCm39)	I1770N	probably damaging	Het
Fndc1	T	A	17: 7,988,585 (GRCm39)	Y1159F	unknown	Het
Frem2	A	G	3: 53,444,679 (GRCm39)	L2484P	probably damaging	Het
Grk2	C	T	19: 4,340,496 (GRCm39)	R295H	probably damaging	Het
Gtf3c1	A	T	7: 125,243,237 (GRCm39)	V1789D	possibly damaging	Het
Hmgcl	T	C	4: 135,677,898 (GRCm39)	V33A	probably damaging	Het
Ighv7-1	A	G	12: 113,860,239 (GRCm39)	F51S	probably damaging	Het
Kcna6	A	G	6: 126,716,688 (GRCm39)	L67P	probably damaging	Het
Lamc1	A	T	1: 153,123,030 (GRCm39)	V720E	probably benign	Het
Lrch1	T	C	14: 75,054,558 (GRCm39)	D312G	probably damaging	Het
Mix23	A	G	16: 35,905,427 (GRCm39)	N63S	probably benign	Het
Nav2	A	G	7: 49,206,794 (GRCm39)	T1540A	probably damaging	Het
Nisch	A	T	14: 30,913,373 (GRCm39)		probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Npc1l1	A	G	11: 6,177,839 (GRCm39)	Y524H	probably damaging	Het
Nrap	T	C	19: 56,377,916 (GRCm39)	T25A	possibly damaging	Het
Nusap1	A	G	2: 119,477,580 (GRCm39)	K363R	probably damaging	Het
Or5ar1	T	C	2: 85,671,656 (GRCm39)	T160A	probably damaging	Het
Or5b124	A	G	19: 13,611,357 (GRCm39)	E294G	probably damaging	Het
Or7e177	T	A	9: 20,212,390 (GRCm39)	L298Q	probably damaging	Het
Pde4d	T	C	13: 110,074,547 (GRCm39)	I384T	probably damaging	Het
Pkhd1	T	A	1: 20,593,875 (GRCm39)	R1413*	probably null	Het
Plcd3	T	A	11: 102,964,592 (GRCm39)	Y593F	possibly damaging	Het
Plxna1	A	T	6: 89,310,087 (GRCm39)	I1026N	possibly damaging	Het
Polq	A	C	16: 36,837,625 (GRCm39)	Q179P	probably benign	Het
Pomt1	T	C	2: 32,137,602 (GRCm39)	V401A	probably damaging	Het
Qdpr	C	T	5: 45,596,727 (GRCm39)	G146S	probably damaging	Het
Shc4	T	A	2: 125,512,218 (GRCm39)	Q2L	probably damaging	Het
Skint8	T	A	4: 111,807,387 (GRCm39)	C358S	probably benign	Het
Smc5	T	C	19: 23,221,467 (GRCm39)	E354G	possibly damaging	Het
Snx30	T	C	4: 59,868,275 (GRCm39)	V129A	probably damaging	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Spag6	T	A	2: 18,703,613 (GRCm39)		probably benign	Het
Trim28	T	A	7: 12,763,036 (GRCm39)	Y450N	probably benign	Het
Trip11	C	T	12: 101,851,924 (GRCm39)	W428*	probably null	Het
Umodl1	T	A	17: 31,213,761 (GRCm39)	V966E	probably damaging	Het
Utf1	A	G	7: 139,524,704 (GRCm39)		probably benign	Het
Vmn1r72	T	C	7: 11,403,776 (GRCm39)	Y224C	probably damaging	Het
Whrn	A	G	4: 63,334,825 (GRCm39)	S748P	probably damaging	Het
Zbtb41	T	A	1: 139,359,816 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,526,964 (GRCm39)	F954L	probably damaging	Het
Zfp456	A	T	13: 67,514,359 (GRCm39)	I449K	probably benign	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
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'- TTCCACATTTGAGTCTCCAGCG -3'
(R):5'- TAGGATAGCAGCAGCAGACC -3'

Sequencing Primer
(F):5'- CACATTTGAGTCTCCAGCGTTAGAG -3'
(R):5'- GACCCACACAGACTGGAGTG -3'

Posted On

2016-11-21