Mutagenetix > Incidental Mutation

Incidental Mutation 'R6285:Nrdc'

508159

Institutional Source

Beutler Lab

Gene Symbol

Nrdc

Ensembl Gene

ENSMUSG00000053510

Gene Name

nardilysin convertase

Synonyms

NRD-C, Nrd1

MMRRC Submission

044455-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R6285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108857852-108918974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108895203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 476 (V476F)

Ref Sequence

ENSEMBL: ENSMUSP00000068328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065977] [ENSMUST00000102736] [ENSMUST00000106644] [ENSMUST00000125645]

AlphaFold

Q8BHG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000065977
AA Change: V476F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510
AA Change: V476F

Domain	Start	End	E-Value	Type
low complexity region	139	165	N/A	INTRINSIC
low complexity region	172	209	N/A	INTRINSIC
Pfam:Peptidase_M16	210	348	1.1e-43	PFAM
Pfam:Peptidase_M16_C	373	559	2.3e-22	PFAM
Pfam:Peptidase_M16_C	849	1032	1.5e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102736
AA Change: V432F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510
AA Change: V432F

Domain	Start	End	E-Value	Type
low complexity region	139	165	N/A	INTRINSIC
low complexity region	172	209	N/A	INTRINSIC
Pfam:Peptidase_M16	210	348	1.4e-43	PFAM
Pfam:Peptidase_M16_C	400	515	1.1e-9	PFAM
Pfam:Peptidase_M16_C	805	988	2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106644
AA Change: V544F

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102255
Gene: ENSMUSG00000053510
AA Change: V544F

Domain	Start	End	E-Value	Type
low complexity region	139	165	N/A	INTRINSIC
coiled coil region	187	225	N/A	INTRINSIC
Pfam:Peptidase_M16	281	416	1e-41	PFAM
Pfam:Peptidase_M16_C	441	627	2.2e-23	PFAM
Pfam:Peptidase_M16_M	631	913	1e-91	PFAM
Pfam:Peptidase_M16_C	917	1100	6e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125645
AA Change: V228F

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122808
Gene: ENSMUSG00000053510
AA Change: V228F

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16	1	100	6.4e-27	PFAM
Pfam:Peptidase_M16_C	125	311	1.9e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150784

Meta Mutation Damage Score

0.8304

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele mostly die within 48 hours of birth with surviving mice exhibiting cortical thinning, enlarged lateral ventricles, hypomyelination, reduced grip strength, impaired coordination, and impaired spatial working memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,324 (GRCm39)	M370L	probably benign	Het
Aimp1	A	G	3: 132,373,265 (GRCm39)	M225T	possibly damaging	Het
Atp8a1	T	C	5: 67,824,950 (GRCm39)	I809V	possibly damaging	Het
Bbs10	A	G	10: 111,135,622 (GRCm39)	Y245C	probably damaging	Het
Cabin1	A	T	10: 75,520,157 (GRCm39)	F1572Y	probably damaging	Het
Cd79a	A	G	7: 24,598,772 (GRCm39)	N107S	possibly damaging	Het
Cdc7	G	A	5: 107,130,925 (GRCm39)	A428T	probably benign	Het
Cep290	A	G	10: 100,359,191 (GRCm39)	T974A	probably benign	Het
Cep350	A	T	1: 155,829,120 (GRCm39)	N261K	possibly damaging	Het
Cfap46	T	A	7: 139,241,001 (GRCm39)	D8V	probably damaging	Het
Col6a4	T	C	9: 105,952,185 (GRCm39)	D571G	probably damaging	Het
Cpe	A	C	8: 65,070,645 (GRCm39)	V200G	probably benign	Het
Ctnnd1	C	T	2: 84,444,231 (GRCm39)		probably null	Het
D5Ertd579e	A	C	5: 36,772,921 (GRCm39)	C491W	probably damaging	Het
Dek	A	G	13: 47,252,856 (GRCm39)	I183T	probably damaging	Het
Dennd1a	A	T	2: 37,742,453 (GRCm39)	H437Q	possibly damaging	Het
Dido1	C	T	2: 180,302,940 (GRCm39)	A1655T	probably benign	Het
Eva1b	A	G	4: 126,043,278 (GRCm39)	D106G	probably damaging	Het
Evc2	G	T	5: 37,581,923 (GRCm39)	S1189I	possibly damaging	Het
Faap100	A	T	11: 120,267,558 (GRCm39)	L405Q	probably damaging	Het
Fbxw15	T	A	9: 109,386,234 (GRCm39)	M249L	probably benign	Het
Gbp10	A	T	5: 105,366,326 (GRCm39)	L526Q	probably damaging	Het
Gm19402	A	C	10: 77,526,354 (GRCm39)		probably benign	Het
Gm2244	A	G	14: 19,590,865 (GRCm39)	Y141H	probably damaging	Het
Gm4181	A	T	14: 51,870,666 (GRCm39)	N98K	probably damaging	Het
Golga4	C	T	9: 118,387,695 (GRCm39)	R616*	probably null	Het
Gpank1	T	A	17: 35,343,266 (GRCm39)	S226T	probably damaging	Het
Hipk3	T	C	2: 104,301,770 (GRCm39)	M141V	probably damaging	Het
Hoxc11	T	C	15: 102,863,178 (GRCm39)	V73A	probably benign	Het
Igf1r	T	G	7: 67,653,885 (GRCm39)	I141S	possibly damaging	Het
Jak2	T	A	19: 29,273,059 (GRCm39)	F628I	probably benign	Het
Kcp	C	A	6: 29,502,364 (GRCm39)	V227L	probably benign	Het
Knl1	T	G	2: 118,902,422 (GRCm39)	C1374W	probably damaging	Het
Larp6	A	T	9: 60,645,043 (GRCm39)	R394S	probably benign	Het
Lilra5	G	A	7: 4,245,114 (GRCm39)	G253R	probably damaging	Het
Map3k4	A	G	17: 12,482,945 (GRCm39)	S591P	probably damaging	Het
Mdfic2	T	C	6: 98,215,134 (GRCm39)	D163G	probably damaging	Het
Minar2	A	G	18: 59,205,296 (GRCm39)	K28R	probably benign	Het
Mrpl16	T	A	19: 11,750,332 (GRCm39)	I72K	probably damaging	Het
Nol11	C	G	11: 107,071,860 (GRCm39)	R244S	probably benign	Het
Nr2f1	T	C	13: 78,343,782 (GRCm39)	T161A	probably benign	Het
Or10j7	G	T	1: 173,011,477 (GRCm39)	H175N	probably damaging	Het
Or10z1	A	T	1: 174,078,395 (GRCm39)	S33T	possibly damaging	Het
Or13a22	T	A	7: 140,072,626 (GRCm39)	L25Q	possibly damaging	Het
Or13m2-ps1	A	T	6: 42,777,843 (GRCm39)	H56L	probably benign	Het
P2rx1	A	G	11: 72,898,974 (GRCm39)	I62V	probably benign	Het
Pcdhgc5	A	T	18: 37,953,674 (GRCm39)	Y316F	probably benign	Het
Pecam1	T	C	11: 106,576,065 (GRCm39)	D490G	probably benign	Het
Pfkfb2	A	T	1: 130,635,299 (GRCm39)	Y87*	probably null	Het
Poldip2	A	G	11: 78,408,458 (GRCm39)		probably null	Het
Ppp2r5b	T	A	19: 6,280,566 (GRCm39)	Q304L	probably benign	Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Psg26	A	G	7: 18,216,753 (GRCm39)	F29L	probably benign	Het
Ptk6	A	T	2: 180,838,886 (GRCm39)	L289Q	probably null	Het
Ptprt	A	T	2: 161,743,417 (GRCm39)	I508N	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,808 (GRCm39)	F406S	probably damaging	Het
Rspo3	A	G	10: 29,375,926 (GRCm39)		probably null	Het
Septin8	G	T	11: 53,425,594 (GRCm39)		probably null	Het
Sirt2	A	C	7: 28,487,471 (GRCm39)	T345P	probably benign	Het
Slc6a20b	T	C	9: 123,438,161 (GRCm39)	E205G	possibly damaging	Het
Sqstm1	G	A	11: 50,093,418 (GRCm39)	Q327*	probably null	Het
Susd3	T	A	13: 49,390,997 (GRCm39)	S98C	probably damaging	Het
Tada2b	G	A	5: 36,634,186 (GRCm39)	R56W	probably damaging	Het
Tbc1d2	A	T	4: 46,615,045 (GRCm39)	V546E	possibly damaging	Het
Tbx6	A	G	7: 126,380,740 (GRCm39)	Q21R	possibly damaging	Het
Usp24	T	G	4: 106,231,297 (GRCm39)		probably null	Het
Vinac1	T	G	2: 128,879,719 (GRCm39)	T736P	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,406 (GRCm39)	T727A	probably benign	Het
Wdr48	C	T	9: 119,749,676 (GRCm39)	T531M	probably damaging	Het

Other mutations in Nrdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Nrdc	APN	4	108,903,884 (GRCm39)	unclassified	probably benign
IGL00857:Nrdc	APN	4	108,911,199 (GRCm39)	missense	probably damaging	1.00
IGL01417:Nrdc	APN	4	108,858,027 (GRCm39)	utr 5 prime	probably benign
IGL01457:Nrdc	APN	4	108,904,857 (GRCm39)	missense	probably benign	0.03
IGL02112:Nrdc	APN	4	108,884,629 (GRCm39)	splice site	probably benign
IGL02279:Nrdc	APN	4	108,881,391 (GRCm39)	splice site	probably benign
IGL02332:Nrdc	APN	4	108,858,185 (GRCm39)	missense	probably damaging	0.99
IGL02890:Nrdc	APN	4	108,911,116 (GRCm39)	missense	possibly damaging	0.55
IGL03179:Nrdc	APN	4	108,903,888 (GRCm39)	unclassified	probably benign
PIT4354001:Nrdc	UTSW	4	108,911,222 (GRCm39)	critical splice donor site	probably null
R0551:Nrdc	UTSW	4	108,904,905 (GRCm39)	missense	probably damaging	1.00
R1468:Nrdc	UTSW	4	108,873,865 (GRCm39)	missense	probably benign	0.01
R1468:Nrdc	UTSW	4	108,873,865 (GRCm39)	missense	probably benign	0.01
R1990:Nrdc	UTSW	4	108,896,972 (GRCm39)	nonsense	probably null
R4391:Nrdc	UTSW	4	108,903,841 (GRCm39)	missense	probably damaging	1.00
R4994:Nrdc	UTSW	4	108,903,809 (GRCm39)	missense	probably benign
R5164:Nrdc	UTSW	4	108,896,914 (GRCm39)	missense	probably damaging	0.99
R5229:Nrdc	UTSW	4	108,906,305 (GRCm39)	missense	probably damaging	1.00
R5387:Nrdc	UTSW	4	108,896,959 (GRCm39)	missense	probably damaging	1.00
R5530:Nrdc	UTSW	4	108,904,806 (GRCm39)	missense	probably damaging	0.96
R5672:Nrdc	UTSW	4	108,895,242 (GRCm39)	nonsense	probably null
R5990:Nrdc	UTSW	4	108,876,268 (GRCm39)	missense	probably damaging	1.00
R6018:Nrdc	UTSW	4	108,870,944 (GRCm39)	missense	probably benign	0.01
R6106:Nrdc	UTSW	4	108,901,782 (GRCm39)	missense	probably damaging	0.99
R6114:Nrdc	UTSW	4	108,901,782 (GRCm39)	missense	probably damaging	0.99
R6140:Nrdc	UTSW	4	108,906,308 (GRCm39)	missense	probably damaging	0.97
R6824:Nrdc	UTSW	4	108,900,622 (GRCm39)	missense	probably damaging	1.00
R7019:Nrdc	UTSW	4	108,885,999 (GRCm39)	missense	probably benign	0.33
R7353:Nrdc	UTSW	4	108,896,946 (GRCm39)	missense	probably damaging	1.00
R7735:Nrdc	UTSW	4	108,895,182 (GRCm39)	missense	probably damaging	1.00
R8261:Nrdc	UTSW	4	108,873,876 (GRCm39)	missense	possibly damaging	0.67
R8340:Nrdc	UTSW	4	108,858,351 (GRCm39)	missense	probably damaging	1.00
R8352:Nrdc	UTSW	4	108,876,260 (GRCm39)	missense	probably damaging	0.98
R8368:Nrdc	UTSW	4	108,870,895 (GRCm39)	missense	probably benign	0.02
R8452:Nrdc	UTSW	4	108,876,260 (GRCm39)	missense	probably damaging	0.98
R9350:Nrdc	UTSW	4	108,889,658 (GRCm39)	missense	possibly damaging	0.93
R9428:Nrdc	UTSW	4	108,858,121 (GRCm39)	missense	probably damaging	0.99
R9516:Nrdc	UTSW	4	108,901,863 (GRCm39)	missense	probably benign
R9526:Nrdc	UTSW	4	108,915,833 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CACGCCTCTTTCCTGTAAAAG -3'
(R):5'- GAGCCACCGCATTAAAATAACTGAG -3'

Sequencing Primer
(F):5'- AGTGAGCTTACATGAAATGTCTTATC -3'
(R):5'- CAGCTCTATGGTTAAGAGCACTG -3'

Posted On

2018-03-15