Mutagenetix > Incidental Mutations

Incidental Mutation 'R1482:Nepn'

164456

Institutional Source

Beutler Lab

Gene Symbol

Nepn

Ensembl Gene

ENSMUSG00000038624

Gene Name

nephrocan

Synonyms

periolin, 5730521E12Rik, Npn

MMRRC Submission

039535-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1482 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52388972-52404625 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52400416 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 22 (T22S)

Ref Sequence

ENSEMBL: ENSMUSP00000151395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067085] [ENSMUST00000219730]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067085
AA Change: T83S

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070130
Gene: ENSMUSG00000038624
AA Change: T83S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	20	51	1.11e1	SMART
LRR	94	117	7.79e0	SMART
LRR	139	162	2.67e-1	SMART
LRR	163	183	3.27e2	SMART
LRR	185	208	5.72e-1	SMART
LRR	209	232	5.88e0	SMART
LRR	254	275	2.47e1	SMART
LRR_TYP	276	299	4.4e-2	SMART
LRR	321	344	2.84e1	SMART
low complexity region	346	360	N/A	INTRINSIC
LRR_TYP	390	413	6.23e-2	SMART
Blast:LRRCT	425	474	3e-28	BLAST
low complexity region	480	497	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160539
AA Change: T22S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124257
Gene: ENSMUSG00000038624
AA Change: T22S

Domain	Start	End	E-Value	Type
LRR	33	56	7.79e0	SMART
LRR	78	101	2.67e-1	SMART
LRR	102	122	3.27e2	SMART
LRR	124	147	5.72e-1	SMART
LRR	148	171	5.88e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000219730
AA Change: T22S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 83.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	G	A	19: 3,717,192	D260N	probably benign	Het
AI314180	T	C	4: 58,820,163	K1217E	possibly damaging	Het
Ankef1	A	T	2: 136,550,158	K422N	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Aqp6	A	T	15: 99,604,307	*294C	probably null	Het
Baz2a	T	A	10: 128,109,008	M38K	possibly damaging	Het
Bcl2l14	A	G	6: 134,427,302	D151G	probably damaging	Het
Cabp5	T	A	7: 13,398,342	L12*	probably null	Het
Cachd1	T	C	4: 100,988,598	V993A	possibly damaging	Het
Cd44	G	A	2: 102,831,383	T306I	probably damaging	Het
Cdc20	A	T	4: 118,437,056	N22K	probably benign	Het
Cdc6	T	A	11: 98,916,981	D433E	possibly damaging	Het
Clhc1	A	G	11: 29,553,725	D47G	probably damaging	Het
Csf2	T	C	11: 54,248,563	K65E	probably benign	Het
Cul9	T	C	17: 46,508,547	E2005G	probably damaging	Het
Dclk3	G	T	9: 111,467,820	R144L	possibly damaging	Het
Dcpp2	C	T	17: 23,900,542	T110I	probably damaging	Het
Disp1	A	T	1: 183,086,474	F1461I	possibly damaging	Het
Dnah1	C	T	14: 31,294,874	G1562D	probably damaging	Het
Exoc3l2	C	A	7: 19,495,359	P234Q	probably damaging	Het
F2rl2	T	C	13: 95,701,539	V364A	probably benign	Het
Fam151a	T	C	4: 106,745,679	L265P	probably damaging	Het
Fam151b	T	A	13: 92,450,166	Q253L	probably benign	Het
Fat1	G	A	8: 44,953,244	V1011M	probably benign	Het
Fbxo6	G	A	4: 148,145,984	R274*	probably null	Het
Fgd4	G	T	16: 16,484,473	Q73K	probably benign	Het
Fth1	A	G	19: 9,984,853	T154A	probably benign	Het
Hgs	C	A	11: 120,480,040	H572Q	probably benign	Het
Kcnk10	G	A	12: 98,489,948	T208I	probably damaging	Het
Kdm5b	G	A	1: 134,624,897	V1204M	probably damaging	Het
Keg1	A	C	19: 12,718,821	H166P	probably damaging	Het
Kifap3	A	T	1: 163,825,859	N338I	possibly damaging	Het
Llcfc1	A	T	6: 41,685,284	D74V	probably damaging	Het
Lman2	A	G	13: 55,351,405	V219A	possibly damaging	Het
Mettl25	A	G	10: 105,826,590	I173T	possibly damaging	Het
Mov10	G	T	3: 104,804,546	P170Q	probably damaging	Het
Mtif2	G	T	11: 29,536,847	A286S	probably damaging	Het
Mtmr10	A	G	7: 64,314,249	Y244C	probably damaging	Het
Nbea	A	T	3: 56,079,993	C359S	probably damaging	Het
Nbr1	C	T	11: 101,572,841	T633I	probably benign	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Oacyl	T	A	18: 65,737,972	L342M	probably damaging	Het
Olfr691	T	A	7: 105,337,256	R153S	probably damaging	Het
Olfr699	A	G	7: 106,790,333	F223L	probably benign	Het
Olfr775	T	A	10: 129,251,143	I203N	possibly damaging	Het
Olfr872	G	A	9: 20,260,724	V295I	possibly damaging	Het
Oxnad1	T	C	14: 32,099,633		probably null	Het
Pard3b	A	T	1: 62,166,367	D440V	probably damaging	Het
Pou3f2	T	G	4: 22,486,960	D391A	possibly damaging	Het
Ptprk	T	C	10: 28,263,516	V79A	probably benign	Het
Rwdd2a	A	G	9: 86,574,278	D169G	probably damaging	Het
Scn3b	A	C	9: 40,279,496	D74A	probably damaging	Het
Setbp1	C	T	18: 79,086,835	D61N	probably damaging	Het
Setx	T	A	2: 29,162,992	D2089E	probably damaging	Het
Vmn2r69	C	G	7: 85,406,874	W685C	probably damaging	Het
Vps8	A	G	16: 21,581,598	Q1272R	probably benign	Het
Wnk4	T	C	11: 101,269,636	F699L	probably damaging	Het
Zfp616	T	A	11: 74,083,977	N448K	possibly damaging	Het
Zfp618	C	A	4: 63,115,448	D307E	possibly damaging	Het
Zfp687	A	G	3: 95,007,533	F1219S	probably damaging	Het
Zfpm2	T	A	15: 41,099,291	D248E	probably damaging	Het

Other mutations in Nepn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Nepn	APN	10	52391815	missense	probably damaging	1.00
IGL01731:Nepn	APN	10	52400564	missense	probably benign	0.00
R0099:Nepn	UTSW	10	52401085	missense	probably damaging	0.96
R0123:Nepn	UTSW	10	52400437	missense	probably damaging	0.96
R0134:Nepn	UTSW	10	52400437	missense	probably damaging	0.96
R0225:Nepn	UTSW	10	52400437	missense	probably damaging	0.96
R0613:Nepn	UTSW	10	52401257	missense	probably damaging	1.00
R2969:Nepn	UTSW	10	52400887	nonsense	probably null
R3731:Nepn	UTSW	10	52404014	missense	probably damaging	1.00
R3790:Nepn	UTSW	10	52400530	missense	probably damaging	1.00
R3958:Nepn	UTSW	10	52400708	missense	probably benign
R4423:Nepn	UTSW	10	52391815	missense	probably damaging	1.00
R5002:Nepn	UTSW	10	52391754	missense	probably benign
R5294:Nepn	UTSW	10	52400800	missense	probably benign	0.02
R5580:Nepn	UTSW	10	52404302	missense	probably damaging	0.98
R5607:Nepn	UTSW	10	52401137	missense	probably benign	0.10
R5986:Nepn	UTSW	10	52404072	missense	probably damaging	1.00
R7135:Nepn	UTSW	10	52391719	missense	probably damaging	1.00
R7256:Nepn	UTSW	10	52400993	missense	probably benign	0.01
R7713:Nepn	UTSW	10	52401178	missense	probably benign	0.16
R8213:Nepn	UTSW	10	52391759	missense	probably benign	0.00
R8432:Nepn	UTSW	10	52391784	missense	probably benign	0.15
R8463:Nepn	UTSW	10	52400800	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- CTCACGTCCTAAATTGGGAGGCAG -3'
(R):5'- AGAGGTCCAACCACGGACTCTATG -3'

Sequencing Primer
(F):5'- TGTATGGGtgtttgtttgtttgtttg -3'
(R):5'- ttcaagttcttcagtccttcaaactc -3'

Posted On

2014-03-28