Mutagenetix > Incidental Mutation

Incidental Mutation 'R3731:Nepn'

270992

Institutional Source

Beutler Lab

Gene Symbol

Nepn

Ensembl Gene

ENSMUSG00000038624

Gene Name

nephrocan

Synonyms

periolin, Npn, 5730521E12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52265068-52280721 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52280110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 401 (N401Y)

Ref Sequence

ENSEMBL: ENSMUSP00000070130 (fasta)

Gene Model

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

AlphaFold

Q9CQ76

Predicted Effect

probably damaging
Transcript: ENSMUST00000067085
AA Change: N401Y

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

SMART Domains

Protein: ENSMUSP00000070130
Gene: ENSMUSG00000038624
AA Change: N401Y

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	A	16: 14,427,485 (GRCm39)		probably null	Het
Abcc5	A	T	16: 20,217,684 (GRCm39)	Y5*	probably null	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Adar	T	C	3: 89,653,962 (GRCm39)	I325T	probably damaging	Het
Akap13	T	C	7: 75,261,125 (GRCm39)	S92P	probably benign	Het
Atp1a4	A	T	1: 172,061,528 (GRCm39)	V771E	probably damaging	Het
Cfh	A	G	1: 140,047,708 (GRCm39)	S492P	possibly damaging	Het
Crlf1	A	G	8: 70,952,092 (GRCm39)	T95A	probably benign	Het
Dennd2d	T	G	3: 106,407,271 (GRCm39)	F441V	probably damaging	Het
Dhx33	T	C	11: 70,879,978 (GRCm39)	D344G	probably benign	Het
Disp3	A	G	4: 148,337,284 (GRCm39)	S844P	probably benign	Het
Dock2	T	C	11: 34,599,722 (GRCm39)	K286E	probably damaging	Het
Fam228a	T	C	12: 4,768,671 (GRCm39)	E203G	probably benign	Het
Fbxo38	GTGCTGCTGCTGCTGCTGCTGC	GTGCTGCTGCTGCTGCTGC	18: 62,648,399 (GRCm39)		probably benign	Het
Frmpd4	G	A	X: 166,269,803 (GRCm39)	T493M	probably damaging	Het
Galnt13	A	G	2: 54,823,519 (GRCm39)	N365S	possibly damaging	Het
Hrob	A	G	11: 102,148,732 (GRCm39)	E381G	possibly damaging	Het
Ighv1-19	C	A	12: 114,672,497 (GRCm39)	C40F	probably damaging	Het
Ints4	A	G	7: 97,155,308 (GRCm39)	Q320R	probably benign	Het
Kctd5	T	C	17: 24,278,212 (GRCm39)	D146G	probably benign	Het
Loxl3	T	C	6: 83,027,652 (GRCm39)		probably null	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrp2	A	T	2: 69,365,251 (GRCm39)		probably null	Het
Manba	G	A	3: 135,260,611 (GRCm39)	V599I	probably benign	Het
Mbd6	A	G	10: 127,121,637 (GRCm39)		probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nol10	A	T	12: 17,474,674 (GRCm39)	K622I	probably benign	Het
Npas3	T	C	12: 53,401,175 (GRCm39)	I40T	probably benign	Het
Or1e29	T	C	11: 73,667,565 (GRCm39)	E196G	probably benign	Het
Or1j19	A	T	2: 36,676,578 (GRCm39)	I14F	possibly damaging	Het
Or2d4	T	A	7: 106,543,684 (GRCm39)	N175Y	probably damaging	Het
Or4n4b	T	A	14: 50,535,962 (GRCm39)	D268V	probably damaging	Het
Or5p73	T	C	7: 108,064,633 (GRCm39)	I34T	possibly damaging	Het
Or8g33	T	A	9: 39,338,365 (GRCm39)	M1L	probably benign	Het
Phtf1	A	G	3: 103,893,095 (GRCm39)	M120V	probably benign	Het
Plxna2	A	G	1: 194,471,193 (GRCm39)	Y988C	probably benign	Het
Rgs12	G	A	5: 35,189,595 (GRCm39)	E658K	probably damaging	Het
Ripor3	C	G	2: 167,834,739 (GRCm39)	E251Q	probably damaging	Het
Sec24b	T	C	3: 129,827,482 (GRCm39)	K203R	possibly damaging	Het
Serpina1d	T	A	12: 103,734,164 (GRCm39)	N47Y	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sirpb1c	T	C	3: 15,887,287 (GRCm39)	K184R	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Upp2	T	C	2: 58,645,379 (GRCm39)	S41P	probably benign	Het
Vmn1r10	A	G	6: 57,090,719 (GRCm39)	T104A	probably damaging	Het
Wdhd1	A	C	14: 47,485,349 (GRCm39)	S838R	possibly damaging	Het
Zer1	A	G	2: 30,000,923 (GRCm39)	V166A	probably benign	Het
Zfp217	T	C	2: 169,956,308 (GRCm39)	N897D	probably benign	Het
Zfp960	T	A	17: 17,308,633 (GRCm39)	L449H	probably damaging	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
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
R5002:Nepn	UTSW	10	52,267,850 (GRCm39)	missense	probably benign
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'- CTGCATACGAGGCTTTGAATGAC -3'
(R):5'- TTGCCTCAGGATCTTCTTGG -3'

Sequencing Primer
(F):5'- AATGACGGCTCATGGTTGCAG -3'
(R):5'- CTCAGGATCTTCTTGGAGGACATC -3'

Posted On

2015-03-18