Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Nepn'

636267

Institutional Source

Beutler Lab

Gene Symbol

Nepn

Ensembl Gene

ENSMUSG00000038624

Gene Name

nephrocan

Synonyms

periolin, 5730521E12Rik, Npn

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52388972-52404625 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52391759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 40 (E40D)

Ref Sequence

ENSEMBL: ENSMUSP00000070130 (fasta)

Gene Model

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

AlphaFold

Q9CQ76

Predicted Effect

probably benign
Transcript: ENSMUST00000067085
AA Change: E40D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000070130
Gene: ENSMUSG00000038624
AA Change: E40D

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

noncoding transcript
Transcript: ENSMUST00000160539

SMART Domains

Protein: ENSMUSP00000124257
Gene: ENSMUSG00000038624

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Acss1	T	A	2: 150,619,710	D651V	possibly damaging	Het
Aktip	G	T	8: 91,124,866	P243H	possibly damaging	Het
Arl11	T	G	14: 61,311,265	S175A	probably benign	Het
Aup1	A	G	6: 83,054,607		probably benign	Het
Avil	A	T	10: 127,008,321	I250F	probably damaging	Het
Btnl6	A	T	17: 34,508,883		probably null	Het
C77080	A	T	4: 129,221,459	V1070D	possibly damaging	Het
Ccdc7b	C	A	8: 129,178,291	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,639,881	E319K	unknown	Het
Chka	A	C	19: 3,885,882	E196A	probably damaging	Het
Depdc5	C	T	5: 32,937,637	R753C	probably damaging	Het
Dhx57	T	A	17: 80,275,156	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,702,693	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,207,133	L164M	probably benign	Het
Dock6	A	G	9: 21,831,444	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,116,071	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783	S226T	probably benign	Het
Fgd6	A	T	10: 94,044,052	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113	Y218*	probably null	Het
Filip1	C	A	9: 79,818,092	A1082S	probably benign	Het
Gm13088	T	A	4: 143,654,185	M423L	probably benign	Het
Gm13128	A	T	4: 144,330,460	D71V	probably benign	Het
Heatr5a	G	A	12: 51,891,443	T1484M	probably damaging	Het
Herc1	G	T	9: 66,450,888	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,317,175		probably benign	Het
Igsf5	A	T	16: 96,372,988	I73F	probably damaging	Het
Il17ra	T	C	6: 120,473,034	V91A	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,566,356	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,444,721	Y353N	probably damaging	Het
Npat	G	T	9: 53,570,570	E1193*	probably null	Het
Nrde2	G	A	12: 100,131,003	S846L	probably benign	Het
Nup205	T	C	6: 35,225,203	V1290A	probably benign	Het
Olfr1009	T	A	2: 85,721,501	L32Q	probably null	Het
Olfr1424	A	G	19: 12,059,092	V220A	probably benign	Het
Olfr517	C	A	7: 108,868,519	V212L	probably benign	Het
Pde6a	A	T	18: 61,220,696	K31M	possibly damaging	Het
Pms2	C	T	5: 143,914,771	R169C	probably damaging	Het
Polr2g	A	T	19: 8,798,257	L30Q	probably damaging	Het
Prdm15	T	A	16: 97,807,060	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,023,386	Y214*	probably null	Het
Prlr	C	T	15: 10,329,242	T601M	possibly damaging	Het
Psen2	A	C	1: 180,245,691	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,722,914	R764L	probably damaging	Het
Scgb2b11	T	C	7: 32,209,408	E89G	probably damaging	Het
Serpina10	T	C	12: 103,628,277	I228V	probably benign	Het
Serpinb1a	T	A	13: 32,842,999	H320L	probably damaging	Het
Sesn2	C	A	4: 132,498,053	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,251,011	W1019R	probably damaging	Het
Sqle	A	G	15: 59,321,302		probably null	Het
Syt14	T	C	1: 192,986,829	M39V	probably benign	Het
Tgm7	A	G	2: 121,101,064	V206A	probably damaging	Het
Thbs4	T	C	13: 92,760,586		probably null	Het
Trpv1	T	C	11: 73,254,251	F721S	probably damaging	Het
Ttll10	A	T	4: 156,036,234	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,099,525	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,470,088	S494F	probably benign	Het
Vwa3b	C	T	1: 37,128,939	A603V	probably benign	Het
Xirp2	T	A	2: 67,476,866	N19K	probably damaging	Het
Zfp397	T	A	18: 23,960,722	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	Het

Other mutations in Nepn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Nepn	APN	10	52391815	missense	probably damaging	1.00
IGL01731:Nepn	APN	10	52400564	missense	probably benign	0.00
R0099:Nepn	UTSW	10	52401085	missense	probably damaging	0.96
R0123:Nepn	UTSW	10	52400437	missense	probably damaging	0.96
R0134:Nepn	UTSW	10	52400437	missense	probably damaging	0.96
R0225:Nepn	UTSW	10	52400437	missense	probably damaging	0.96
R0613:Nepn	UTSW	10	52401257	missense	probably damaging	1.00
R1482:Nepn	UTSW	10	52400416	missense	probably damaging	1.00
R2969:Nepn	UTSW	10	52400887	nonsense	probably null
R3731:Nepn	UTSW	10	52404014	missense	probably damaging	1.00
R3790:Nepn	UTSW	10	52400530	missense	probably damaging	1.00
R3958:Nepn	UTSW	10	52400708	missense	probably benign
R4423:Nepn	UTSW	10	52391815	missense	probably damaging	1.00
R5002:Nepn	UTSW	10	52391754	missense	probably benign
R5294:Nepn	UTSW	10	52400800	missense	probably benign	0.02
R5580:Nepn	UTSW	10	52404302	missense	probably damaging	0.98
R5607:Nepn	UTSW	10	52401137	missense	probably benign	0.10
R5986:Nepn	UTSW	10	52404072	missense	probably damaging	1.00
R7135:Nepn	UTSW	10	52391719	missense	probably damaging	1.00
R7256:Nepn	UTSW	10	52400993	missense	probably benign	0.01
R7713:Nepn	UTSW	10	52401178	missense	probably benign	0.16
R8432:Nepn	UTSW	10	52391784	missense	probably benign	0.15
R8463:Nepn	UTSW	10	52400800	missense	probably benign	0.23
R9315:Nepn	UTSW	10	52391773	missense	probably benign	0.02
R9684:Nepn	UTSW	10	52400705	missense	probably benign	0.34

Predicted Primers

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

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

Posted On

2020-07-13