Mutagenetix > Incidental Mutation

Incidental Mutation 'R4412:Podnl1'

327971

Institutional Source

Beutler Lab

Gene Symbol

Podnl1

Ensembl Gene

ENSMUSG00000012889

Gene Name

podocan-like 1

Synonyms

5832418A03Rik

MMRRC Submission

041135-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4412 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

84852618-84859156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84857294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 301 (H301L)

Ref Sequence

ENSEMBL: ENSMUSP00000091073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040383] [ENSMUST00000093380] [ENSMUST00000117424]

AlphaFold

Q6P3Y9

Predicted Effect

probably benign
Transcript: ENSMUST00000040383

SMART Domains

Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
DM14	137	194	1.02e-14	SMART
low complexity region	195	206	N/A	INTRINSIC
low complexity region	229	238	N/A	INTRINSIC
DM14	250	308	8.7e-23	SMART
DM14	342	400	7.44e-31	SMART
low complexity region	457	478	N/A	INTRINSIC
DM14	487	545	4.62e-27	SMART
C2	649	763	5.08e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093380
AA Change: H301L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000091073
Gene: ENSMUSG00000012889
AA Change: H301L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LRRNT	38	71	1.91e0	SMART
LRR	70	89	1.81e2	SMART
LRR	90	115	1.76e-1	SMART
LRR	116	139	1.19e2	SMART
LRR	162	186	1.06e1	SMART
LRR	191	210	5.42e1	SMART
LRR	211	231	1.66e1	SMART
LRR	233	257	3.98e1	SMART
LRR_TYP	258	281	7.9e-4	SMART
LRR	304	328	9.24e1	SMART
LRR_TYP	329	352	4.72e-2	SMART
LRR	375	399	2.61e2	SMART
LRR_TYP	400	423	2.61e-4	SMART
LRR	424	444	3.18e1	SMART
LRR	445	470	3.27e1	SMART
LRR_TYP	471	494	3.63e-3	SMART
LRR	495	515	1.97e1	SMART
LRR	516	541	2.03e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117424

SMART Domains

Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC
DM14	205	263	8.7e-23	SMART
DM14	297	355	7.44e-31	SMART
low complexity region	411	432	N/A	INTRINSIC
DM14	441	499	4.62e-27	SMART
C2	603	717	5.08e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154029

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,449,302 (GRCm39)		probably benign	Het
Adprhl1	T	C	8: 13,296,114 (GRCm39)	K144E	probably benign	Het
Alpl	A	G	4: 137,485,939 (GRCm39)	I2T	possibly damaging	Het
Chdh	G	T	14: 29,753,672 (GRCm39)	G194C	probably damaging	Het
Cp	A	T	3: 20,020,517 (GRCm39)	D170V	probably damaging	Het
Cpne9	A	G	6: 113,266,962 (GRCm39)	K132E	possibly damaging	Het
Cyp2b9	T	G	7: 25,897,868 (GRCm39)	L224R	probably damaging	Het
Dmxl1	A	G	18: 49,981,828 (GRCm39)	N153S	probably benign	Het
Dnah17	T	C	11: 117,964,509 (GRCm39)	Y2423C	probably damaging	Het
Dnajc14	G	T	10: 128,642,074 (GRCm39)		probably benign	Het
Eipr1	A	T	12: 28,909,372 (GRCm39)	D213V	probably damaging	Het
Fat1	T	C	8: 45,476,636 (GRCm39)	V1894A	probably damaging	Het
Flrt2	G	A	12: 95,747,047 (GRCm39)	V462I	probably benign	Het
Gigyf2	A	G	1: 87,364,582 (GRCm39)	E954G	probably damaging	Het
Glis1	A	G	4: 107,491,915 (GRCm39)	H593R	probably damaging	Het
Gpr21	C	G	2: 37,407,444 (GRCm39)		probably benign	Het
Gsdmc3	A	G	15: 63,738,645 (GRCm39)	M139T	probably benign	Het
Hydin	C	T	8: 111,142,368 (GRCm39)	T749I	probably damaging	Het
Ilf3	C	T	9: 21,310,856 (GRCm39)	P620S	possibly damaging	Het
Khdc3	A	G	9: 73,010,156 (GRCm39)	T71A	possibly damaging	Het
Ms4a12	T	C	19: 11,207,807 (GRCm39)	N33S	probably benign	Het
Nisch	A	G	14: 30,908,615 (GRCm39)		probably benign	Het
Npr2	G	A	4: 43,644,150 (GRCm39)	C593Y	probably damaging	Het
Npr3	G	C	15: 11,905,235 (GRCm39)	T164R	probably benign	Het
Or4c1	A	G	2: 89,133,684 (GRCm39)	I84T	probably benign	Het
Palld	A	G	8: 62,140,406 (GRCm39)	Y534H	probably damaging	Het
Pcdhb10	TC	T	18: 37,547,194 (GRCm39)		probably null	Het
Plekhg3	A	C	12: 76,624,538 (GRCm39)	T1127P	probably damaging	Het
Ripk2	A	G	4: 16,124,511 (GRCm39)	V399A	probably benign	Het
Rpp30	T	A	19: 36,077,655 (GRCm39)	N172K	possibly damaging	Het
Sin3b	C	T	8: 73,466,407 (GRCm39)	A291V	probably benign	Het
Slc12a6	A	T	2: 112,166,233 (GRCm39)	Q204L	possibly damaging	Het
Snx9	C	T	17: 5,958,669 (GRCm39)	T249M	probably damaging	Het
Sohlh2	C	A	3: 55,104,423 (GRCm39)	T264K	probably damaging	Het
Srrm2	A	G	17: 24,029,442 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,152,834 (GRCm39)	H6674Q	probably benign	Het
Tyw1	T	A	5: 130,364,073 (GRCm39)		probably null	Het
Vmn1r115	C	T	7: 20,578,207 (GRCm39)	R235K	probably benign	Het
Vmn2r50	A	C	7: 9,784,235 (GRCm39)	F80V	probably damaging	Het
Yme1l1	G	A	2: 23,065,199 (GRCm39)	R236H	probably damaging	Het

Other mutations in Podnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02738:Podnl1	APN	8	84,858,824 (GRCm39)	missense	probably benign	0.31
IGL03151:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03197:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03198:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03225:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03290:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03368:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
IGL03493:Podnl1	APN	8	84,858,818 (GRCm39)	missense	probably benign	0.44
PIT4472001:Podnl1	UTSW	8	84,854,477 (GRCm39)	missense
R1056:Podnl1	UTSW	8	84,855,905 (GRCm39)	missense	probably benign	0.00
R1962:Podnl1	UTSW	8	84,853,926 (GRCm39)	missense	probably benign	0.04
R4367:Podnl1	UTSW	8	84,853,897 (GRCm39)	missense	probably benign	0.03
R4473:Podnl1	UTSW	8	84,858,614 (GRCm39)	missense	possibly damaging	0.89
R4715:Podnl1	UTSW	8	84,852,690 (GRCm39)	start gained	probably benign
R5009:Podnl1	UTSW	8	84,852,887 (GRCm39)	missense	probably benign	0.01
R5013:Podnl1	UTSW	8	84,852,965 (GRCm39)	missense	probably damaging	0.99
R5153:Podnl1	UTSW	8	84,857,272 (GRCm39)	missense	probably benign	0.00
R7596:Podnl1	UTSW	8	84,853,024 (GRCm39)	missense
R8289:Podnl1	UTSW	8	84,858,552 (GRCm39)	missense
R8343:Podnl1	UTSW	8	84,857,402 (GRCm39)	missense
R8715:Podnl1	UTSW	8	84,855,956 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ATGTGAAATCTCCAGTTTAAAGGGG -3'
(R):5'- ATTACCAGGGCCTGCAAGTG -3'

Sequencing Primer
(F):5'- CTCCAGTTTAAAGGGGTTCTAAAAC -3'
(R):5'- CAAGTGGCGGGGCAATGC -3'

Posted On

2015-07-07