Mutagenetix > Incidental Mutation

Incidental Mutation 'R5002:Nepn'

390000

Institutional Source

Beutler Lab

Gene Symbol

Nepn

Ensembl Gene

ENSMUSG00000038624

Gene Name

nephrocan

Synonyms

periolin, Npn, 5730521E12Rik

MMRRC Submission

042596-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52265068-52280721 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 52267850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 39 (M39L)

Ref Sequence

ENSEMBL: ENSMUSP00000070130 (fasta)

Gene Model

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

AlphaFold

Q9CQ76

Predicted Effect

probably benign
Transcript: ENSMUST00000067085
AA Change: M39L

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

SMART Domains

Protein: ENSMUSP00000070130
Gene: ENSMUSG00000038624
AA Change: M39L

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 benign
Transcript: ENSMUST00000219730

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,852,623 (GRCm39)	P736S	probably damaging	Het
Apbb2	A	G	5: 66,470,668 (GRCm39)	I523T	possibly damaging	Het
Casq1	T	A	1: 172,040,945 (GRCm39)	D281V	possibly damaging	Het
Catsperb	T	C	12: 101,486,813 (GRCm39)	F447L	probably benign	Het
Cenpe	A	T	3: 134,952,842 (GRCm39)	M1511L	probably benign	Het
Cep128	T	C	12: 91,222,497 (GRCm39)		probably null	Het
Col6a6	T	C	9: 105,663,292 (GRCm39)	T82A	probably benign	Het
Dna2	A	G	10: 62,786,621 (GRCm39)	D123G	probably damaging	Het
Ergic2	A	G	6: 148,085,656 (GRCm39)	I281T	probably benign	Het
Fcgbp	T	A	7: 27,785,528 (GRCm39)		probably null	Het
Filip1l	T	C	16: 57,391,466 (GRCm39)	Y447H	probably benign	Het
Flnb	T	A	14: 7,945,882 (GRCm38)	M2429K	probably damaging	Het
Fn1	T	A	1: 71,668,887 (GRCm39)	Q686L	possibly damaging	Het
Gm10644	T	C	8: 84,660,216 (GRCm39)	D43G	possibly damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Gpx6	A	G	13: 21,497,858 (GRCm39)	Y43C	probably damaging	Het
Hhat	A	T	1: 192,225,498 (GRCm39)	F494I	probably benign	Het
Itga9	C	A	9: 118,492,966 (GRCm39)	S287*	probably null	Het
Lrrk1	C	A	7: 65,982,111 (GRCm39)	G177W	probably damaging	Het
Ltbp4	GT	G	7: 27,027,110 (GRCm39)		probably null	Het
Ms4a14	T	C	19: 11,281,653 (GRCm39)	I302V	probably benign	Het
Nfil3	C	A	13: 53,122,712 (GRCm39)	R64L	probably damaging	Het
Ociad1	T	C	5: 73,467,659 (GRCm39)	V199A	possibly damaging	Het
Or2r3	C	A	6: 42,448,906 (GRCm39)	V69L	probably benign	Het
Or8k3b	C	A	2: 86,520,429 (GRCm39)	V297L	possibly damaging	Het
Polk	A	G	13: 96,625,752 (GRCm39)	Y431H	probably damaging	Het
Prss33	C	T	17: 24,054,332 (GRCm39)		probably benign	Het
Semp2l2b	G	C	10: 21,943,716 (GRCm39)	P88R	probably damaging	Het
Slc12a7	A	G	13: 73,911,896 (GRCm39)	N4S	possibly damaging	Het
Slc29a4	A	T	5: 142,704,501 (GRCm39)	I348F	probably damaging	Het
Smarce1	T	C	11: 99,115,889 (GRCm39)	N44S	probably damaging	Het
Spast	C	T	17: 74,676,221 (GRCm39)	Q344*	probably null	Het
Stk11ip	C	A	1: 75,509,187 (GRCm39)		probably benign	Het
Tas2r131	T	C	6: 132,934,114 (GRCm39)	I232V	probably benign	Het
Tesk1	T	C	4: 43,444,573 (GRCm39)	Y126H	probably damaging	Het
Tmpo	A	G	10: 90,999,976 (GRCm39)	V164A	possibly damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vwc2l	T	G	1: 70,768,205 (GRCm39)	C43G	probably damaging	Het
Wnk1	G	A	6: 119,914,924 (GRCm39)	T1626I	probably benign	Het
Zpld2	T	A	4: 133,924,231 (GRCm39)	N438I	probably benign	Het

Other mutations in Nepn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Nepn	APN	10	52,267,911 (GRCm39)	missense	probably damaging	1.00
IGL01731:Nepn	APN	10	52,276,660 (GRCm39)	missense	probably benign	0.00
R0099:Nepn	UTSW	10	52,277,181 (GRCm39)	missense	probably damaging	0.96
R0123:Nepn	UTSW	10	52,276,533 (GRCm39)	missense	probably damaging	0.96
R0134:Nepn	UTSW	10	52,276,533 (GRCm39)	missense	probably damaging	0.96
R0225:Nepn	UTSW	10	52,276,533 (GRCm39)	missense	probably damaging	0.96
R0613:Nepn	UTSW	10	52,277,353 (GRCm39)	missense	probably damaging	1.00
R1482:Nepn	UTSW	10	52,276,512 (GRCm39)	missense	probably damaging	1.00
R2969:Nepn	UTSW	10	52,276,983 (GRCm39)	nonsense	probably null
R3731:Nepn	UTSW	10	52,280,110 (GRCm39)	missense	probably damaging	1.00
R3790:Nepn	UTSW	10	52,276,626 (GRCm39)	missense	probably damaging	1.00
R3958:Nepn	UTSW	10	52,276,804 (GRCm39)	missense	probably benign
R4423:Nepn	UTSW	10	52,267,911 (GRCm39)	missense	probably damaging	1.00
R5294:Nepn	UTSW	10	52,276,896 (GRCm39)	missense	probably benign	0.02
R5580:Nepn	UTSW	10	52,280,398 (GRCm39)	missense	probably damaging	0.98
R5607:Nepn	UTSW	10	52,277,233 (GRCm39)	missense	probably benign	0.10
R5986:Nepn	UTSW	10	52,280,168 (GRCm39)	missense	probably damaging	1.00
R7135:Nepn	UTSW	10	52,267,815 (GRCm39)	missense	probably damaging	1.00
R7256:Nepn	UTSW	10	52,277,089 (GRCm39)	missense	probably benign	0.01
R7713:Nepn	UTSW	10	52,277,274 (GRCm39)	missense	probably benign	0.16
R8213:Nepn	UTSW	10	52,267,855 (GRCm39)	missense	probably benign	0.00
R8432:Nepn	UTSW	10	52,267,880 (GRCm39)	missense	probably benign	0.15
R8463:Nepn	UTSW	10	52,276,896 (GRCm39)	missense	probably benign	0.23
R9315:Nepn	UTSW	10	52,267,869 (GRCm39)	missense	probably benign	0.02
R9684:Nepn	UTSW	10	52,276,801 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- GTCTTCTCACAAGGACAAGCAC -3'
(R):5'- TGCCCAGCAAGCAGGTAATAC -3'

Sequencing Primer
(F):5'- CTCCGTGGTATAAAAAGTAAGGTGTC -3'
(R):5'- CTGAAGGTGCTGGATTCT -3'

Posted On

2016-06-06