Mutagenetix > Incidental Mutation

Incidental Mutation 'R0613:Nepn'

54892

Institutional Source

Beutler Lab

Gene Symbol

Nepn

Ensembl Gene

ENSMUSG00000038624

Gene Name

nephrocan

Synonyms

periolin, Npn, 5730521E12Rik

MMRRC Submission

038802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0613 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

52265068-52280721 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52277353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 363 (L363Q)

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: L363Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070130
Gene: ENSMUSG00000038624
AA Change: L363Q

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: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	A	T	8: 106,427,200 (GRCm39)		probably null	Het
Adcy9	A	G	16: 4,237,403 (GRCm39)	S3P	probably damaging	Het
Adgrl4	T	C	3: 151,248,859 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,249,004 (GRCm39)	E700G	probably benign	Het
Ahctf1	A	G	1: 179,596,979 (GRCm39)	S56P	probably damaging	Het
Atp12a	T	A	14: 56,611,978 (GRCm39)	I384N	probably damaging	Het
Brca1	A	T	11: 101,399,036 (GRCm39)	S1519T	probably benign	Het
Ccl25	T	C	8: 4,399,850 (GRCm39)	V94A	probably benign	Het
Cep170	T	C	1: 176,602,246 (GRCm39)	T287A	probably benign	Het
Ces1a	A	G	8: 93,752,209 (GRCm39)	S383P	probably benign	Het
Cntnap3	A	T	13: 64,906,228 (GRCm39)	F793I	probably damaging	Het
Ctsm	T	C	13: 61,687,496 (GRCm39)	R89G	probably damaging	Het
Cyp2j12	T	G	4: 95,990,316 (GRCm39)	T417P	probably damaging	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Edn2	T	A	4: 120,019,061 (GRCm39)		probably null	Het
Emc1	T	A	4: 139,102,383 (GRCm39)		probably benign	Het
Entrep1	T	A	19: 23,963,853 (GRCm39)	N239Y	probably damaging	Het
Fras1	T	C	5: 96,848,347 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,824,139 (GRCm39)	D6624V	probably damaging	Het
Gpr107	A	G	2: 31,068,297 (GRCm39)	Y253C	probably damaging	Het
Gpr108	A	G	17: 57,545,174 (GRCm39)		probably benign	Het
Grik1	A	G	16: 87,848,221 (GRCm39)		probably null	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Gucy2c	A	T	6: 136,737,721 (GRCm39)	N293K	probably damaging	Het
Hps6	C	A	19: 45,992,260 (GRCm39)	P66T	probably benign	Het
Hspa9	A	T	18: 35,081,033 (GRCm39)	V216E	probably damaging	Het
Igsf8	T	A	1: 172,145,156 (GRCm39)	M224K	probably benign	Het
Igsf9b	T	C	9: 27,238,216 (GRCm39)	V569A	probably damaging	Het
Itgb4	A	T	11: 115,884,168 (GRCm39)	I952F	probably damaging	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Khdrbs2	A	G	1: 32,696,603 (GRCm39)	H344R	possibly damaging	Het
Kmo	C	A	1: 175,465,458 (GRCm39)	R71S	probably damaging	Het
Lrrc31	A	G	3: 30,739,184 (GRCm39)		probably benign	Het
Map1b	T	A	13: 99,578,149 (GRCm39)	D168V	probably damaging	Het
Mfsd6	T	C	1: 52,697,855 (GRCm39)		probably benign	Het
Mgst1	G	A	6: 138,133,243 (GRCm39)	G186D	probably damaging	Het
Mrc1	C	T	2: 14,299,630 (GRCm39)	A740V	probably damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Mtor	T	C	4: 148,610,503 (GRCm39)	Y1605H	possibly damaging	Het
Ncoa4	T	A	14: 31,898,509 (GRCm39)	L443Q	probably damaging	Het
Nelfa	G	A	5: 34,060,807 (GRCm39)		probably benign	Het
Nfat5	A	G	8: 108,092,927 (GRCm39)	T630A	possibly damaging	Het
Nipal4	A	T	11: 46,041,211 (GRCm39)	V328E	probably benign	Het
Or11h4b	T	A	14: 50,918,861 (GRCm39)	I77F	probably benign	Het
Or2y1e	T	A	11: 49,218,575 (GRCm39)	S112R	possibly damaging	Het
Or4c122	A	T	2: 89,079,469 (GRCm39)	C178S	probably damaging	Het
Or4d2b	A	T	11: 87,780,053 (GRCm39)	V223E	possibly damaging	Het
Or6c76	T	A	10: 129,612,131 (GRCm39)	M116K	probably damaging	Het
Or8d2	T	A	9: 38,759,909 (GRCm39)	C166*	probably null	Het
Otogl	A	T	10: 107,652,931 (GRCm39)	N1140K	probably damaging	Het
Ppip5k2	A	C	1: 97,680,465 (GRCm39)	Y236*	probably null	Het
Prelid1	C	T	13: 55,472,156 (GRCm39)	R111*	probably null	Het
Prpf8	T	C	11: 75,394,270 (GRCm39)	L1771P	probably damaging	Het
Ptprb	A	T	10: 116,138,230 (GRCm39)	Y378F	possibly damaging	Het
Ptprb	A	G	10: 116,138,283 (GRCm39)	T396A	possibly damaging	Het
Rab3il1	T	C	19: 10,005,728 (GRCm39)	L174P	probably damaging	Het
Rab4a	T	C	8: 124,550,574 (GRCm39)	V18A	possibly damaging	Het
Scn3a	T	A	2: 65,302,628 (GRCm39)	M1273L	possibly damaging	Het
Sdhc	A	T	1: 170,957,413 (GRCm39)	V156E	probably benign	Het
Slco3a1	T	C	7: 73,996,382 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,924,371 (GRCm39)	T343A	probably benign	Het
Syt11	A	G	3: 88,669,776 (GRCm39)	C39R	probably damaging	Het
Tll2	G	T	19: 41,093,429 (GRCm39)	D462E	probably damaging	Het
Tmem132e	T	A	11: 82,329,164 (GRCm39)	V481D	probably damaging	Het
Tmem161b	C	T	13: 84,399,439 (GRCm39)	L17F	probably damaging	Het
Vmn2r105	T	A	17: 20,428,578 (GRCm39)	I833F	probably damaging	Het
Vstm2a	A	T	11: 16,213,140 (GRCm39)	N175I	probably damaging	Het
Xpnpep1	G	T	19: 52,994,784 (GRCm39)	D238E	probably damaging	Het
Zfp112	G	A	7: 23,826,453 (GRCm39)	G807D	probably benign	Het
Zfp518b	A	T	5: 38,830,946 (GRCm39)	V353E	probably damaging	Het
Zfp69	T	C	4: 120,791,544 (GRCm39)	E39G	probably benign	Het
Zfp865	A	G	7: 5,032,090 (GRCm39)	H25R	possibly 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
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
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'- AATGTTGCCTCCCAGGCTACCATC -3'
(R):5'- CCCATGTCCAGTCAGTCAGTTTTGC -3'

Sequencing Primer
(F):5'- CAGGCTACCATCGAGGTTACAG -3'
(R):5'- CCAGTCAGTCAGTTTTGCATACTTAG -3'

Posted On

2013-07-11