Mutagenetix > Incidental Mutation

Incidental Mutation 'R9495:Podn'

717142

Institutional Source

Beutler Lab

Gene Symbol

Podn

Ensembl Gene

ENSMUSG00000028600

Gene Name

podocan

Synonyms

SLRR5A

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9495 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107871990-107889151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107876106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 517 (V517I)

Ref Sequence

ENSEMBL: ENSMUSP00000102320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044248] [ENSMUST00000106708] [ENSMUST00000106709] [ENSMUST00000146851]

AlphaFold

Q7TQ62

Predicted Effect

probably benign
Transcript: ENSMUST00000044248
AA Change: V517I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048962
Gene: ENSMUSG00000028600
AA Change: V517I

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	40	49	N/A	INTRINSIC
LRRNT	68	101	4.34e-5	SMART
LRR_TYP	120	145	2.05e-2	SMART
LRR	146	169	1.19e1	SMART
LRR	192	216	2.84e1	SMART
LRR	239	261	6.22e0	SMART
LRR	262	287	3.47e0	SMART
LRR_TYP	288	311	7.9e-4	SMART
LRR	333	358	1.26e1	SMART
LRR	359	382	2.82e0	SMART
LRR	407	429	1.53e2	SMART
LRR_TYP	430	453	7.37e-4	SMART
LRR	475	500	1.66e1	SMART
LRR	501	522	1.29e1	SMART
LRR_TYP	523	545	7.67e-2	SMART
low complexity region	594	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106708
AA Change: V517I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102319
Gene: ENSMUSG00000028600
AA Change: V517I

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	40	49	N/A	INTRINSIC
LRRNT	68	101	4.34e-5	SMART
LRR_TYP	120	145	2.05e-2	SMART
LRR	146	169	1.19e1	SMART
LRR	192	216	2.84e1	SMART
LRR	239	261	6.22e0	SMART
LRR	262	287	3.47e0	SMART
LRR_TYP	288	311	7.9e-4	SMART
LRR	333	358	1.26e1	SMART
LRR	359	382	2.82e0	SMART
LRR	407	429	1.53e2	SMART
LRR_TYP	430	453	7.37e-4	SMART
LRR	475	500	1.66e1	SMART
LRR	501	522	1.29e1	SMART
LRR_TYP	523	545	7.67e-2	SMART
low complexity region	594	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106709
AA Change: V517I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102320
Gene: ENSMUSG00000028600
AA Change: V517I

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	40	49	N/A	INTRINSIC
LRRNT	68	101	4.34e-5	SMART
LRR_TYP	120	145	2.05e-2	SMART
LRR	146	169	1.19e1	SMART
LRR	192	216	2.84e1	SMART
LRR	239	261	6.22e0	SMART
LRR	262	287	3.47e0	SMART
LRR_TYP	288	311	7.9e-4	SMART
LRR	333	358	1.26e1	SMART
LRR	359	382	2.82e0	SMART
LRR	407	429	1.53e2	SMART
LRR_TYP	430	453	7.37e-4	SMART
LRR	475	500	1.66e1	SMART
LRR	501	522	1.29e1	SMART
LRR_TYP	523	545	7.67e-2	SMART
low complexity region	594	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130026

SMART Domains

Protein: ENSMUSP00000123184
Gene: ENSMUSG00000028600

Domain	Start	End	E-Value	Type
LRR	27	49	1.53e2	SMART
LRR_TYP	50	73	7.37e-4	SMART
LRR	95	120	1.66e1	SMART
LRR	121	139	3.09e2	SMART
low complexity region	188	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146851

SMART Domains

Protein: ENSMUSP00000121478
Gene: ENSMUSG00000028600

Domain	Start	End	E-Value	Type
LRR	1	24	1.19e1	SMART
LRR	47	71	2.84e1	SMART
LRR	94	116	6.22e0	SMART
LRR	117	142	3.47e0	SMART
LRR_TYP	143	166	7.9e-4	SMART
LRR	188	213	1.26e1	SMART
LRR	214	237	2.82e0	SMART
LRR	262	284	1.53e2	SMART
LRR_TYP	285	308	7.37e-4	SMART
low complexity region	319	334	N/A	INTRINSIC
low complexity region	359	364	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,842 (GRCm39)	D158V	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl2fm1	T	C	3: 59,840,114 (GRCm39)	I62T	possibly damaging	Het
Acp5	G	A	9: 22,038,483 (GRCm39)	Q273*	probably null	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Atp2b1	T	A	10: 98,835,660 (GRCm39)	N468K	probably damaging	Het
Bltp3a	A	G	17: 28,112,414 (GRCm39)	D1201G	probably damaging	Het
Bphl	A	T	13: 34,234,312 (GRCm39)	I143L	probably benign	Het
Cd33	A	T	7: 43,182,150 (GRCm39)	H98Q	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cemip2	T	A	19: 21,779,249 (GRCm39)	V353D	probably damaging	Het
Cfap96	C	T	8: 46,409,458 (GRCm39)	S287N	probably damaging	Het
Colec10	A	G	15: 54,325,761 (GRCm39)	D197G	probably damaging	Het
Cpt1a	T	C	19: 3,433,795 (GRCm39)	M759T	probably benign	Het
Ctc1	A	G	11: 68,913,593 (GRCm39)	Y165C	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dnah2	T	C	11: 69,345,208 (GRCm39)	D2667G	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Erv3	C	A	2: 131,697,975 (GRCm39)	W128L	possibly damaging	Het
Fam186a	A	G	15: 99,844,766 (GRCm39)	S493P	unknown	Het
Fbn1	A	T	2: 125,160,984 (GRCm39)	N2185K	probably damaging	Het
Figla	A	C	6: 85,997,689 (GRCm39)	H139P	probably benign	Het
Gemin4	A	G	11: 76,101,749 (GRCm39)	L1004P	probably damaging	Het
Gm11937	T	C	11: 99,500,646 (GRCm39)	T124A	unknown	Het
Gm17669	G	T	18: 67,695,682 (GRCm39)	V76L	probably benign	Het
H2ac21	A	G	3: 96,127,401 (GRCm39)	E57G	probably damaging	Het
Hcls1	A	T	16: 36,777,702 (GRCm39)	M274L	probably benign	Het
Il17rc	T	C	6: 113,449,741 (GRCm39)	S116P	probably damaging	Het
Krt79	G	A	15: 101,840,288 (GRCm39)	R303C	probably damaging	Het
Lamb2	C	T	9: 108,358,006 (GRCm39)	T149I	probably damaging	Het
Lrrc41	T	A	4: 115,932,806 (GRCm39)		probably null	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mix23	A	G	16: 35,892,491 (GRCm39)	E12G	probably benign	Het
Muc6	T	A	7: 141,237,398 (GRCm39)	Q205L	probably damaging	Het
Nlrp9b	A	T	7: 19,760,462 (GRCm39)	K624N	possibly damaging	Het
Or1o4	G	T	17: 37,591,386 (GRCm39)		probably benign	Het
Or4d2	C	T	11: 87,784,082 (GRCm39)	V223M	probably benign	Het
Or6e1	T	C	14: 54,520,137 (GRCm39)	T72A	probably damaging	Het
Otud4	T	C	8: 80,400,087 (GRCm39)	S934P	probably damaging	Het
Pcdha12	G	T	18: 37,155,526 (GRCm39)	W748C	probably damaging	Het
Pdc	T	C	1: 150,208,919 (GRCm39)	I134T	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pkn1	C	T	8: 84,410,799 (GRCm39)	R276Q	possibly damaging	Het
Plin3	C	A	17: 56,587,824 (GRCm39)	G297V	probably benign	Het
Pomk	T	C	8: 26,473,344 (GRCm39)	D203G	probably damaging	Het
Ppil4	A	G	10: 7,675,355 (GRCm39)	D168G	probably damaging	Het
Ptgr2	T	C	12: 84,354,647 (GRCm39)	I276T	probably benign	Het
Ptk7	T	A	17: 46,887,744 (GRCm39)	I563F	possibly damaging	Het
Rbm12	G	T	2: 155,939,738 (GRCm39)	T178K	unknown	Het
Sctr	T	C	1: 119,959,403 (GRCm39)		probably null	Het
Sh2b1	GGGACC	GGGACCGGCTCAGCCACGTGGACC	7: 126,066,744 (GRCm39)		probably benign	Het
Spata31e4	T	A	13: 50,855,465 (GRCm39)	S368T	possibly damaging	Het
Steap1	A	T	5: 5,786,458 (GRCm39)	D326E	probably damaging	Het
Stra6	G	A	9: 58,059,175 (GRCm39)	V513I	probably benign	Het
Tbx19	A	G	1: 164,966,546 (GRCm39)	S443P	unknown	Het
Tcea3	T	A	4: 135,991,885 (GRCm39)	C190S	probably damaging	Het
Tfr2	G	A	5: 137,572,701 (GRCm39)	V171I	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,815,122 (GRCm39)	V17A	probably benign	Het
Tmem87b	T	C	2: 128,660,353 (GRCm39)	L32P	probably damaging	Het
Tor1aip1	T	A	1: 155,906,177 (GRCm39)	D205V	probably damaging	Het
Trim33	T	C	3: 103,239,074 (GRCm39)	V684A	probably benign	Het
Triobp	C	T	15: 78,877,378 (GRCm39)	R1637C	probably damaging	Het
Ulbp1	C	A	10: 7,406,371 (GRCm39)	M196I	probably benign	Het
Vash1	G	A	12: 86,738,663 (GRCm39)	G370E	probably damaging	Het
Vmn2r23	A	G	6: 123,689,672 (GRCm39)	T183A	probably benign	Het
Vta1	A	G	10: 14,531,583 (GRCm39)	I264T	probably benign	Het
Zcchc8	A	T	5: 123,838,633 (GRCm39)	M635K	probably benign	Het

Other mutations in Podn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Podn	APN	4	107,879,371 (GRCm39)	missense	probably damaging	1.00
IGL01569:Podn	APN	4	107,881,496 (GRCm39)	missense	probably damaging	1.00
IGL02950:Podn	APN	4	107,875,048 (GRCm39)	missense	possibly damaging	0.65
R0119:Podn	UTSW	4	107,878,791 (GRCm39)	missense	probably damaging	1.00
R0196:Podn	UTSW	4	107,878,695 (GRCm39)	missense	probably damaging	1.00
R0499:Podn	UTSW	4	107,878,791 (GRCm39)	missense	probably damaging	1.00
R1539:Podn	UTSW	4	107,878,764 (GRCm39)	missense	probably damaging	1.00
R1705:Podn	UTSW	4	107,875,055 (GRCm39)	missense	probably benign	0.24
R2018:Podn	UTSW	4	107,880,570 (GRCm39)	missense	probably damaging	1.00
R2120:Podn	UTSW	4	107,880,558 (GRCm39)	missense	probably damaging	1.00
R2156:Podn	UTSW	4	107,878,892 (GRCm39)	missense	probably damaging	1.00
R2170:Podn	UTSW	4	107,879,730 (GRCm39)	missense	probably damaging	1.00
R2200:Podn	UTSW	4	107,879,787 (GRCm39)	missense	probably damaging	0.99
R2384:Podn	UTSW	4	107,879,269 (GRCm39)	missense	probably damaging	1.00
R4285:Podn	UTSW	4	107,878,893 (GRCm39)	missense	possibly damaging	0.69
R4606:Podn	UTSW	4	107,875,064 (GRCm39)	missense	probably benign	0.07
R5051:Podn	UTSW	4	107,872,043 (GRCm39)	missense	probably benign	0.15
R5945:Podn	UTSW	4	107,878,910 (GRCm39)	missense	possibly damaging	0.88
R6317:Podn	UTSW	4	107,884,357 (GRCm39)	missense	probably damaging	0.99
R6366:Podn	UTSW	4	107,876,001 (GRCm39)	missense	possibly damaging	0.95
R6830:Podn	UTSW	4	107,878,614 (GRCm39)	missense	possibly damaging	0.96
R6983:Podn	UTSW	4	107,881,470 (GRCm39)	splice site	probably null
R7325:Podn	UTSW	4	107,874,899 (GRCm39)	splice site	probably null
R7456:Podn	UTSW	4	107,875,002 (GRCm39)	missense	probably benign	0.05
R7516:Podn	UTSW	4	107,879,321 (GRCm39)	missense	probably damaging	1.00
R9047:Podn	UTSW	4	107,878,743 (GRCm39)	missense	probably damaging	0.99
R9048:Podn	UTSW	4	107,878,596 (GRCm39)	missense	probably damaging	1.00
R9657:Podn	UTSW	4	107,884,231 (GRCm39)	missense	probably damaging	0.98
X0004:Podn	UTSW	4	107,878,764 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- CAGCTGTCCCTCTACTGTTATAGTG -3'
(R):5'- AACAAGTGTGTGGAGTCTGGC -3'

Sequencing Primer
(F):5'- CCTCTACTGTTATAGTGCTGTCTGG -3'
(R):5'- GTAAGTCCTTGACACGCA -3'

Posted On

2022-07-18