Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Nrdc'

481927

Institutional Source

Beutler Lab

Gene Symbol

Nrdc

Ensembl Gene

ENSMUSG00000053510

Gene Name

nardilysin convertase

Synonyms

NRD-C, Nrd1

MMRRC Submission

044170-MU

Accession Numbers

Essential gene?

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

Stock #

R5990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108857852-108918974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108876268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 355 (F355V)

Ref Sequence

ENSEMBL: ENSMUSP00000102255 (fasta)

Gene Model

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

AlphaFold

Q8BHG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000065977
AA Change: F287V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510
AA Change: F287V

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: F287V

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

SMART Domains

Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510
AA Change: F287V

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

noncoding transcript
Transcript: ENSMUST00000103245

Predicted Effect

probably damaging
Transcript: ENSMUST00000106644
AA Change: F355V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102255
Gene: ENSMUSG00000053510
AA Change: F355V

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 damaging
Transcript: ENSMUST00000125645
AA Change: F39V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122808
Gene: ENSMUSG00000053510
AA Change: F39V

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

Meta Mutation Damage Score

0.3473

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,285,123 (GRCm39)	M11L	probably benign	Het
Acad10	A	G	5: 121,783,468 (GRCm39)	L319P	probably damaging	Het
Adam12	C	A	7: 133,533,465 (GRCm39)	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,243,146 (GRCm39)	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,361,531 (GRCm39)	T797M	possibly damaging	Het
Auts2	G	A	5: 131,505,734 (GRCm39)		probably benign	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Ccdc146	A	G	5: 21,523,180 (GRCm39)	S286P	probably benign	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Cmtr1	T	C	17: 29,921,135 (GRCm39)	Y794H	probably benign	Het
Copb2	A	G	9: 98,452,378 (GRCm39)	E54G	probably damaging	Het
Ctsk	A	T	3: 95,408,767 (GRCm39)	H77L	probably damaging	Het
Dnah3	T	C	7: 119,672,764 (GRCm39)	Y546C	probably benign	Het
Ephb2	A	T	4: 136,423,366 (GRCm39)	V304E	probably benign	Het
Ern1	C	T	11: 106,302,595 (GRCm39)	V420I	probably benign	Het
Esrrg	A	T	1: 187,930,995 (GRCm39)	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960 (GRCm39)	F189V	probably damaging	Het
Foxl1	G	T	8: 121,855,160 (GRCm39)	A154S	probably damaging	Het
Frs3	A	G	17: 48,012,602 (GRCm39)	D103G	possibly damaging	Het
Gdpd4	A	G	7: 97,690,137 (GRCm39)	T610A	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm4847	C	T	1: 166,470,942 (GRCm39)	S36N	probably benign	Het
Grm8	G	T	6: 27,363,623 (GRCm39)	L631I	probably damaging	Het
Ints9	T	A	14: 65,276,777 (GRCm39)	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,774,885 (GRCm39)	H647R	probably damaging	Het
Kcnq1	T	A	7: 142,815,105 (GRCm39)	H501Q	probably damaging	Het
Kctd20	T	C	17: 29,185,884 (GRCm39)	L409P	probably benign	Het
Kiss1r	A	G	10: 79,754,541 (GRCm39)	T12A	probably benign	Het
Kndc1	T	A	7: 139,507,333 (GRCm39)	V1173E	probably damaging	Het
Kprp	T	C	3: 92,732,081 (GRCm39)	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,662,441 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,391,784 (GRCm39)	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,817,707 (GRCm39)	G228D	probably damaging	Het
Muc16	G	A	9: 18,570,539 (GRCm39)	A660V	unknown	Het
Muc5b	T	C	7: 141,411,898 (GRCm39)	C1615R	unknown	Het
Nans	A	T	4: 46,489,441 (GRCm39)	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,448,418 (GRCm39)	S207L	possibly damaging	Het
Nrip2	C	T	6: 128,376,979 (GRCm39)		probably benign	Het
Nufip1	C	T	14: 76,351,628 (GRCm39)	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,049,071 (GRCm39)	H114Y	possibly damaging	Het
Opa1	T	A	16: 29,405,836 (GRCm39)	W134R	probably damaging	Het
Or4k45	T	A	2: 111,395,019 (GRCm39)	I257F	probably damaging	Het
Or8a1b	G	T	9: 37,623,406 (GRCm39)	H56Q	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Patl2	T	C	2: 121,954,965 (GRCm39)	D361G	probably damaging	Het
Pcx	A	G	19: 4,671,294 (GRCm39)	D1172G	probably damaging	Het
Phax	A	G	18: 56,708,675 (GRCm39)	T58A	probably benign	Het
Phf11b	T	A	14: 59,562,375 (GRCm39)	I177L	possibly damaging	Het
Pole	T	A	5: 110,450,010 (GRCm39)	V819D	probably damaging	Het
Poll	T	C	19: 45,541,594 (GRCm39)	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,386,602 (GRCm39)		probably null	Het
Ppp1r9a	C	A	6: 5,134,660 (GRCm39)	H928N	probably benign	Het
Prdm2	T	C	4: 142,896,683 (GRCm39)	N102D	probably damaging	Het
Rbm45	A	T	2: 76,200,756 (GRCm39)	D95V	probably benign	Het
Rdh19	A	G	10: 127,695,463 (GRCm39)	M226V	probably benign	Het
Rev3l	T	G	10: 39,699,807 (GRCm39)	S1435A	probably benign	Het
Rgs20	A	G	1: 4,982,553 (GRCm39)	I305T	probably benign	Het
Rhobtb2	T	C	14: 70,033,818 (GRCm39)	N469S	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,593,708 (GRCm39)	I177T	probably damaging	Het
Samd12	T	A	15: 53,583,019 (GRCm39)	D105V	probably damaging	Het
Setd3	A	T	12: 108,126,594 (GRCm39)	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,584,192 (GRCm39)	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,014,627 (GRCm39)	A195S	possibly damaging	Het
Smcp	C	A	3: 92,491,557 (GRCm39)	A97S	unknown	Het
Stxbp5	G	A	10: 9,711,677 (GRCm39)	H248Y	probably damaging	Het
Syne2	T	C	12: 76,070,918 (GRCm39)	L4457P	probably benign	Het
Tbx3	A	G	5: 119,818,594 (GRCm39)	T390A	probably benign	Het
Tmeff2	G	A	1: 51,018,601 (GRCm39)	W194*	probably null	Het
Tmem120b	G	A	5: 123,242,544 (GRCm39)	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,545 (GRCm39)	V402A	probably benign	Het
Ttll2	C	A	17: 7,619,766 (GRCm39)	G54W	possibly damaging	Het
Uba7	G	A	9: 107,858,433 (GRCm39)	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,482,809 (GRCm39)	E55G	probably damaging	Het
Wdr35	A	G	12: 9,066,511 (GRCm39)	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,267,293 (GRCm39)	V381M	probably damaging	Het
Zdhhc11	T	A	13: 74,127,303 (GRCm39)	W227R	probably benign	Het
Zfp341	T	C	2: 154,487,579 (GRCm39)	S681P	probably damaging	Het
Zfp735	T	A	11: 73,581,174 (GRCm39)	D70E	possibly damaging	Het
Zmat4	G	A	8: 24,419,279 (GRCm39)	A104T	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
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'- ACACAGCCATTGTTAACATGTG -3'
(R):5'- CCATGCATATACAGTAAGACCTTG -3'

Sequencing Primer
(F):5'- GCCATTGTTAACATGTGACTTTATC -3'
(R):5'- TGTCTTAAAAAGAAAGAAAAAGGGGG -3'

Posted On

2017-06-26