Mutagenetix > Incidental Mutation

Incidental Mutation 'R1482:Nepn'

164456

Institutional Source

Beutler Lab

Gene Symbol

Nepn

Ensembl Gene

ENSMUSG00000038624

Gene Name

nephrocan

Synonyms

periolin, Npn, 5730521E12Rik

MMRRC Submission

039535-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1482 (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 52276512 bp (GRCm39)

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]

AlphaFold

Q9CQ76

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: 3,767,192 (GRCm39)	D260N	probably benign	Het
Ankef1	A	T	2: 136,392,078 (GRCm39)	K422N	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Aqp6	A	T	15: 99,502,188 (GRCm39)	*294C	probably null	Het
Baz2a	T	A	10: 127,944,877 (GRCm39)	M38K	possibly damaging	Het
Bcl2l14	A	G	6: 134,404,265 (GRCm39)	D151G	probably damaging	Het
Cabp5	T	A	7: 13,132,267 (GRCm39)	L12*	probably null	Het
Cachd1	T	C	4: 100,845,795 (GRCm39)	V993A	possibly damaging	Het
Cd44	G	A	2: 102,661,728 (GRCm39)	T306I	probably damaging	Het
Cdc20	A	T	4: 118,294,253 (GRCm39)	N22K	probably benign	Het
Cdc6	T	A	11: 98,807,807 (GRCm39)	D433E	possibly damaging	Het
Clhc1	A	G	11: 29,503,725 (GRCm39)	D47G	probably damaging	Het
Csf2	T	C	11: 54,139,389 (GRCm39)	K65E	probably benign	Het
Cul9	T	C	17: 46,819,473 (GRCm39)	E2005G	probably damaging	Het
Dclk3	G	T	9: 111,296,888 (GRCm39)	R144L	possibly damaging	Het
Dcpp2	C	T	17: 24,119,516 (GRCm39)	T110I	probably damaging	Het
Disp1	A	T	1: 182,868,038 (GRCm39)	F1461I	possibly damaging	Het
Dnah1	C	T	14: 31,016,831 (GRCm39)	G1562D	probably damaging	Het
Ecpas	T	C	4: 58,820,163 (GRCm39)	K1217E	possibly damaging	Het
Exoc3l2	C	A	7: 19,229,284 (GRCm39)	P234Q	probably damaging	Het
F2rl2	T	C	13: 95,838,047 (GRCm39)	V364A	probably benign	Het
Fam151a	T	C	4: 106,602,876 (GRCm39)	L265P	probably damaging	Het
Fam151b	T	A	13: 92,586,674 (GRCm39)	Q253L	probably benign	Het
Fat1	G	A	8: 45,406,281 (GRCm39)	V1011M	probably benign	Het
Fbxo6	G	A	4: 148,230,441 (GRCm39)	R274*	probably null	Het
Fgd4	G	T	16: 16,302,337 (GRCm39)	Q73K	probably benign	Het
Fth1	A	G	19: 9,962,217 (GRCm39)	T154A	probably benign	Het
Hgs	C	A	11: 120,370,866 (GRCm39)	H572Q	probably benign	Het
Kcnk10	G	A	12: 98,456,207 (GRCm39)	T208I	probably damaging	Het
Kdm5b	G	A	1: 134,552,635 (GRCm39)	V1204M	probably damaging	Het
Keg1	A	C	19: 12,696,185 (GRCm39)	H166P	probably damaging	Het
Kifap3	A	T	1: 163,653,428 (GRCm39)	N338I	possibly damaging	Het
Llcfc1	A	T	6: 41,662,218 (GRCm39)	D74V	probably damaging	Het
Lman2	A	G	13: 55,499,218 (GRCm39)	V219A	possibly damaging	Het
Mettl25	A	G	10: 105,662,451 (GRCm39)	I173T	possibly damaging	Het
Mov10	G	T	3: 104,711,862 (GRCm39)	P170Q	probably damaging	Het
Mtif2	G	T	11: 29,486,847 (GRCm39)	A286S	probably damaging	Het
Mtmr10	A	G	7: 63,963,997 (GRCm39)	Y244C	probably damaging	Het
Nbea	A	T	3: 55,987,414 (GRCm39)	C359S	probably damaging	Het
Nbr1	C	T	11: 101,463,667 (GRCm39)	T633I	probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Oacyl	T	A	18: 65,871,043 (GRCm39)	L342M	probably damaging	Het
Or2ag17	A	G	7: 106,389,540 (GRCm39)	F223L	probably benign	Het
Or52b2	T	A	7: 104,986,463 (GRCm39)	R153S	probably damaging	Het
Or6c205	T	A	10: 129,087,012 (GRCm39)	I203N	possibly damaging	Het
Or7e176	G	A	9: 20,172,020 (GRCm39)	V295I	possibly damaging	Het
Oxnad1	T	C	14: 31,821,590 (GRCm39)		probably null	Het
Pard3b	A	T	1: 62,205,526 (GRCm39)	D440V	probably damaging	Het
Pou3f2	T	G	4: 22,486,960 (GRCm39)	D391A	possibly damaging	Het
Ptprk	T	C	10: 28,139,512 (GRCm39)	V79A	probably benign	Het
Rwdd2a	A	G	9: 86,456,331 (GRCm39)	D169G	probably damaging	Het
Scn3b	A	C	9: 40,190,792 (GRCm39)	D74A	probably damaging	Het
Setbp1	C	T	18: 79,130,050 (GRCm39)	D61N	probably damaging	Het
Setx	T	A	2: 29,053,004 (GRCm39)	D2089E	probably damaging	Het
Vmn2r69	C	G	7: 85,056,082 (GRCm39)	W685C	probably damaging	Het
Vps8	A	G	16: 21,400,348 (GRCm39)	Q1272R	probably benign	Het
Wnk4	T	C	11: 101,160,462 (GRCm39)	F699L	probably damaging	Het
Zfp616	T	A	11: 73,974,803 (GRCm39)	N448K	possibly damaging	Het
Zfp618	C	A	4: 63,033,685 (GRCm39)	D307E	possibly damaging	Het
Zfp687	A	G	3: 94,914,844 (GRCm39)	F1219S	probably damaging	Het
Zfpm2	T	A	15: 40,962,687 (GRCm39)	D248E	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
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'- CTCACGTCCTAAATTGGGAGGCAG -3'
(R):5'- AGAGGTCCAACCACGGACTCTATG -3'

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

Posted On

2014-03-28