Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Nrdc'

45152

Institutional Source

Beutler Lab

Gene Symbol

Nrdc

Ensembl Gene

ENSMUSG00000053510

Gene Name

nardilysin convertase

Synonyms

NRD-C, Nrd1

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108857852-108918974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108904905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 712 (I712S)

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: I712S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510
AA Change: I712S

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 benign
Transcript: ENSMUST00000102736
AA Change: I668S

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510
AA Change: I668S

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: I780S

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102255
Gene: ENSMUSG00000053510
AA Change: I780S

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

probably benign
Transcript: ENSMUST00000125645

SMART Domains

Protein: ENSMUSP00000122808
Gene: ENSMUSG00000053510

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: ENSMUST00000148444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150784

Meta Mutation Damage Score

0.5767

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,598 (GRCm39)	T456S	probably benign	Het
Acmsd	A	T	1: 127,694,070 (GRCm39)	K333N	probably benign	Het
Adcy2	T	A	13: 68,944,658 (GRCm39)	K241N	probably damaging	Het
Aebp1	A	G	11: 5,817,955 (GRCm39)	I77V	probably benign	Het
Albfm1	C	T	5: 90,720,578 (GRCm39)	P250S	probably damaging	Het
Ankrd35	A	G	3: 96,591,276 (GRCm39)	T521A	probably benign	Het
Arap2	C	T	5: 62,798,666 (GRCm39)		probably null	Het
Arfgap3	A	T	15: 83,227,338 (GRCm39)	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,737,125 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Auts2	T	C	5: 131,469,307 (GRCm39)	E446G	possibly damaging	Het
Brwd1	C	T	16: 95,837,174 (GRCm39)	R886H	probably damaging	Het
Carm1	G	A	9: 21,491,787 (GRCm39)		probably null	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cfap54	A	T	10: 92,860,984 (GRCm39)	M841K	probably benign	Het
Clca4b	T	A	3: 144,634,387 (GRCm39)	T69S	probably damaging	Het
Cpox	A	G	16: 58,495,753 (GRCm39)	I357V	probably benign	Het
Diaph3	C	A	14: 87,147,536 (GRCm39)	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,567,904 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,651,905 (GRCm39)		probably benign	Het
Fcho1	A	G	8: 72,164,818 (GRCm39)	S488P	probably benign	Het
Flcn	A	G	11: 59,686,574 (GRCm39)		probably null	Het
Flt3l	A	G	7: 44,781,690 (GRCm39)	W234R	probably damaging	Het
Fzd7	G	T	1: 59,522,443 (GRCm39)	V109L	probably damaging	Het
G3bp1	A	G	11: 55,379,969 (GRCm39)	N101S	probably benign	Het
Gadd45g	A	G	13: 52,001,963 (GRCm39)	E143G	probably damaging	Het
Ganab	T	G	19: 8,884,644 (GRCm39)	I149S	probably benign	Het
Garnl3	A	G	2: 32,906,750 (GRCm39)	S413P	probably damaging	Het
Glis1	C	T	4: 107,425,316 (GRCm39)		probably null	Het
Gm11563	A	G	11: 99,549,539 (GRCm39)	S72P	unknown	Het
Gpd1	T	G	15: 99,618,510 (GRCm39)	I188S	possibly damaging	Het
Gria2	A	G	3: 80,639,333 (GRCm39)		probably benign	Het
Hpcal4	G	T	4: 123,082,848 (GRCm39)	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,236,089 (GRCm39)	T1364I	probably benign	Het
Kdm4a	T	C	4: 117,995,428 (GRCm39)	*1065W	probably null	Het
Klkb1	A	G	8: 45,731,003 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,557,951 (GRCm39)	D147G	probably damaging	Het
Lrp1	A	G	10: 127,407,827 (GRCm39)	S1821P	probably benign	Het
Macroh2a2	A	G	10: 61,576,945 (GRCm39)	S308P	probably damaging	Het
Manba	T	C	3: 135,223,734 (GRCm39)	I207T	probably damaging	Het
Mark3	T	A	12: 111,600,068 (GRCm39)	S428T	probably benign	Het
Mfsd4a	G	A	1: 131,969,657 (GRCm39)	T348I	probably damaging	Het
Mybbp1a	A	G	11: 72,339,202 (GRCm39)	M880V	probably benign	Het
N4bp2	T	A	5: 65,977,684 (GRCm39)		probably null	Het
Nup210	G	A	6: 90,998,466 (GRCm39)	R774C	possibly damaging	Het
Obscn	G	A	11: 58,998,688 (GRCm39)	R1395*	probably null	Het
Or5b102	T	A	19: 13,041,658 (GRCm39)	D294E	probably benign	Het
Pcdh7	T	C	5: 57,879,336 (GRCm39)	Y964H	probably damaging	Het
Pgap6	C	A	17: 26,339,576 (GRCm39)	Q605K	probably damaging	Het
Plin4	T	C	17: 56,413,756 (GRCm39)	T290A	probably benign	Het
Ppara	T	C	15: 85,671,306 (GRCm39)		probably benign	Het
Psg21	T	G	7: 18,386,565 (GRCm39)		probably null	Het
Ptar1	C	A	19: 23,697,704 (GRCm39)	N405K	probably benign	Het
Ralgps2	A	G	1: 156,660,233 (GRCm39)		probably null	Het
Rnf6	T	A	5: 146,148,205 (GRCm39)	N271I	possibly damaging	Het
Sis	T	C	3: 72,832,740 (GRCm39)	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,329,688 (GRCm39)		probably benign	Het
Slc49a3	A	G	5: 108,592,331 (GRCm39)		probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Sntg1	C	A	1: 8,624,960 (GRCm39)	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,300,260 (GRCm39)	E567D	probably damaging	Het
Sp110	C	A	1: 85,516,821 (GRCm39)		probably benign	Het
Ssu2	A	G	6: 112,357,515 (GRCm39)	V175A	possibly damaging	Het
Stk36	G	A	1: 74,655,780 (GRCm39)	E428K	probably benign	Het
Teddm1b	A	T	1: 153,751,090 (GRCm39)	I300F	possibly damaging	Het
Thy1	T	C	9: 43,958,645 (GRCm39)	V129A	probably damaging	Het
Tiam2	T	A	17: 3,479,229 (GRCm39)	M654K	probably damaging	Het
Tmem69	T	C	4: 116,410,470 (GRCm39)	S167G	probably benign	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tspan10	A	G	11: 120,335,244 (GRCm39)	D118G	probably damaging	Het
Tspo2	A	G	17: 48,755,841 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,738,672 (GRCm39)	Q4002*	probably null	Het
Tyro3	G	A	2: 119,647,385 (GRCm39)	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 87,073,943 (GRCm39)	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,048,524 (GRCm39)	I200F	probably benign	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
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
R6285:Nrdc	UTSW	4	108,895,203 (GRCm39)	missense	probably damaging	0.99
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'- GAATCTGCTGTTGGGAATGAGATAGCTT -3'
(R):5'- GTTTACCCCACAGGAGACACGC -3'

Sequencing Primer
(F):5'- GGAATGAGATAGCTTTAGTTTCCATC -3'
(R):5'- ccagggctacacagagaaac -3'

Posted On

2013-06-11