Mutagenetix > Incidental Mutation

Incidental Mutation 'R9315:Nepn'

705852

Institutional Source

Beutler Lab

Gene Symbol

Nepn

Ensembl Gene

ENSMUSG00000038624

Gene Name

nephrocan

Synonyms

periolin, Npn, 5730521E12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52265068-52280721 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52267869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 45 (I45N)

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: I45N

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000070130
Gene: ENSMUSG00000038624
AA Change: I45N

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	T	11: 94,265,576 (GRCm39)	R153H	possibly damaging	Het
Ankrd17	G	A	5: 90,398,360 (GRCm39)	S1730L	probably damaging	Het
Ano3	T	C	2: 110,528,287 (GRCm39)	E509G	probably damaging	Het
Cacna2d4	G	T	6: 119,213,670 (GRCm39)	A30S	probably benign	Het
Clec4e	A	G	6: 123,263,214 (GRCm39)	S109P	probably damaging	Het
Coa7	T	A	4: 108,195,581 (GRCm39)	L170Q	probably benign	Het
Col1a2	T	A	6: 4,540,544 (GRCm39)	I1334N	unknown	Het
Col6a3	A	G	1: 90,738,979 (GRCm39)		probably null	Het
Cyp2j6	A	G	4: 96,420,035 (GRCm39)	I232T	probably benign	Het
Ddx52	T	A	11: 83,837,033 (GRCm39)	S175T	probably benign	Het
Dnah11	G	A	12: 118,143,341 (GRCm39)	S434F	probably benign	Het
Epn1	T	C	7: 5,096,339 (GRCm39)	V211A	probably benign	Het
Fads2b	C	A	2: 85,319,188 (GRCm39)	K371N	probably benign	Het
Glb1	A	G	9: 114,285,548 (GRCm39)	N429S	probably benign	Het
Ifng	A	T	10: 118,278,588 (GRCm39)	D83V	probably damaging	Het
Ints4	A	G	7: 97,156,840 (GRCm39)		probably benign	Het
Lamb2	C	T	9: 108,364,366 (GRCm39)	R1102W	possibly damaging	Het
Ldlr	T	A	9: 21,644,782 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,760,911 (GRCm39)	V4992A	probably benign	Het
Mrc1	T	A	2: 14,248,969 (GRCm39)	C168*	probably null	Het
Msantd5f3	A	T	4: 73,575,280 (GRCm39)	R320*	probably null	Het
Mug1	T	A	6: 121,850,730 (GRCm39)	V742D	possibly damaging	Het
Mxd1	T	C	6: 86,627,926 (GRCm39)	D204G	probably damaging	Het
Myo9b	C	A	8: 71,801,811 (GRCm39)	A1322D	possibly damaging	Het
Or13a22	T	C	7: 140,072,935 (GRCm39)	I128T	probably damaging	Het
Or14c46	A	T	7: 85,918,495 (GRCm39)	C167*	probably null	Het
Or4d5	T	C	9: 40,012,270 (GRCm39)	D172G	probably benign	Het
Paip1	A	G	13: 119,586,516 (GRCm39)	E271G	probably benign	Het
Pcnx2	T	C	8: 126,614,119 (GRCm39)	N444S	probably benign	Het
Pdcd6ip	T	C	9: 113,488,921 (GRCm39)	T705A	possibly damaging	Het
Pik3r1	A	G	13: 101,894,166 (GRCm39)	M1T	probably null	Het
Rab33b	T	G	3: 51,401,000 (GRCm39)	V158G	probably damaging	Het
Rab6a	A	G	7: 100,281,017 (GRCm39)	I120V	probably benign	Het
Radil	G	T	5: 142,474,254 (GRCm39)	H731N	probably damaging	Het
Rbm4b	T	C	19: 4,812,028 (GRCm39)	S146P	probably damaging	Het
Rrn3	T	C	16: 13,606,690 (GRCm39)	Y99H	probably benign	Het
Saxo4	T	A	19: 10,458,767 (GRCm39)	S88C	probably damaging	Het
Syne1	G	T	10: 5,283,553 (GRCm39)	T1504K	possibly damaging	Het
Tas1r2	A	G	4: 139,381,046 (GRCm39)	Y56C	possibly damaging	Het
Tmprss3	T	C	17: 31,403,644 (GRCm39)	I386V	probably null	Het
Tns1	A	G	1: 73,980,141 (GRCm39)	C11R		Het
Wdr11	A	G	7: 129,208,264 (GRCm39)	T340A	probably benign	Het
Zbtb49	A	G	5: 38,358,082 (GRCm39)	S724P	probably benign	Het
Zfp446	A	G	7: 12,713,397 (GRCm39)	K221R	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
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
R9684:Nepn	UTSW	10	52,276,801 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- TGTCTTCTCACAAGGACAAGCAC -3'
(R):5'- GCCCAGCAAGCAGGTAATAC -3'

Sequencing Primer
(F):5'- GGTGTCACCTGAACAGTTGC -3'
(R):5'- TTACCTGAAGGTGCTGGA -3'

Posted On

2022-03-25