Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Nid2'

602579

Institutional Source

Beutler Lab

Gene Symbol

Nid2

Ensembl Gene

ENSMUSG00000021806

Gene Name

nidogen 2

Synonyms

entactin 2, entactin-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

RF002 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

19751265-19811787 bp(+) (GRCm38)

Type of Mutation

small deletion (3 aa in frame mutation)

DNA Base Change (assembly)

TAACACCGCCA to TA at 19751366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022340]

AlphaFold

O88322

Predicted Effect

probably benign
Transcript: ENSMUST00000022340

SMART Domains

Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Blast:NIDO	39	77	3e-11	BLAST
NIDO	108	276	1.12e-72	SMART
low complexity region	421	430	N/A	INTRINSIC
low complexity region	452	470	N/A	INTRINSIC
EGF	510	547	1.84e1	SMART
G2F	548	780	4.36e-143	SMART
EGF	785	823	2.52e-2	SMART
EGF_CA	824	866	1.45e-11	SMART
EGF	874	914	3.15e-3	SMART
EGF_CA	915	953	5.03e-11	SMART
TY	988	1037	8.27e-20	SMART
TY	1068	1116	1.19e-20	SMART
LY	1162	1204	1.15e-5	SMART
LY	1206	1248	8.82e-16	SMART
LY	1249	1293	1.51e-14	SMART
LY	1294	1336	3.56e-11	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a null alleleexhibit calcification of joint cartilage and osteoarthritis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably damaging	Het

Other mutations in Nid2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Nid2	APN	14	19768677	missense	probably benign
IGL01788:Nid2	APN	14	19807979	missense	probably damaging	1.00
IGL02259:Nid2	APN	14	19768209	critical splice acceptor site	probably null
IGL03084:Nid2	APN	14	19768932	missense	probably benign	0.05
IGL03247:Nid2	APN	14	19779620	missense	probably damaging	1.00
IGL03098:Nid2	UTSW	14	19805938	missense	probably damaging	0.99
PIT4810001:Nid2	UTSW	14	19810090	missense	possibly damaging	0.82
R0173:Nid2	UTSW	14	19802332	splice site	probably benign
R0501:Nid2	UTSW	14	19789668	splice site	probably null
R1117:Nid2	UTSW	14	19763664	critical splice acceptor site	probably null
R1305:Nid2	UTSW	14	19768862	missense	probably benign	0.00
R1572:Nid2	UTSW	14	19805412	missense	probably benign	0.08
R1594:Nid2	UTSW	14	19781261	missense	probably benign	0.03
R1789:Nid2	UTSW	14	19752431	missense	possibly damaging	0.95
R1927:Nid2	UTSW	14	19768276	missense	probably damaging	1.00
R2085:Nid2	UTSW	14	19778043	missense	probably benign	0.12
R2086:Nid2	UTSW	14	19778043	missense	probably benign	0.12
R2100:Nid2	UTSW	14	19778878	nonsense	probably null
R2158:Nid2	UTSW	14	19778043	missense	probably benign	0.12
R2240:Nid2	UTSW	14	19805914	missense	probably damaging	0.99
R2314:Nid2	UTSW	14	19789761	missense	probably benign	0.01
R2863:Nid2	UTSW	14	19768403	missense	possibly damaging	0.92
R3113:Nid2	UTSW	14	19778043	missense	probably benign	0.12
R3545:Nid2	UTSW	14	19763711	missense	probably damaging	1.00
R3548:Nid2	UTSW	14	19763711	missense	probably damaging	1.00
R3801:Nid2	UTSW	14	19809997	missense	probably damaging	1.00
R4618:Nid2	UTSW	14	19808010	missense	probably damaging	0.99
R4798:Nid2	UTSW	14	19789761	missense	probably benign	0.01
R4953:Nid2	UTSW	14	19778078	nonsense	probably null
R5256:Nid2	UTSW	14	19768208	critical splice acceptor site	probably null
R5289:Nid2	UTSW	14	19805311	missense	possibly damaging	0.95
R5302:Nid2	UTSW	14	19779701	missense	probably benign
R5409:Nid2	UTSW	14	19805962	missense	probably damaging	1.00
R5514:Nid2	UTSW	14	19802467	missense	probably damaging	1.00
R6134:Nid2	UTSW	14	19778783	missense	probably damaging	1.00
R6365:Nid2	UTSW	14	19803133	missense	probably damaging	1.00
R6647:Nid2	UTSW	14	19802416	missense	probably benign	0.04
R6758:Nid2	UTSW	14	19802483	missense	probably damaging	1.00
R6882:Nid2	UTSW	14	19789707	missense	probably damaging	1.00
R6893:Nid2	UTSW	14	19789787	missense	probably benign	0.34
R7045:Nid2	UTSW	14	19779681	missense	possibly damaging	0.94
R7392:Nid2	UTSW	14	19768656	missense	probably benign	0.00
R7477:Nid2	UTSW	14	19805973	missense	probably benign	0.09
R7515:Nid2	UTSW	14	19791567	missense	probably benign	0.06
R7547:Nid2	UTSW	14	19797277	missense	probably benign
R7594:Nid2	UTSW	14	19768723	missense	probably benign	0.00
R7615:Nid2	UTSW	14	19802530	missense	probably damaging	1.00
R7680:Nid2	UTSW	14	19779647	missense	probably damaging	1.00
R8097:Nid2	UTSW	14	19798589	missense	possibly damaging	0.77
R8167:Nid2	UTSW	14	19810063	missense	possibly damaging	0.57
R8292:Nid2	UTSW	14	19768278	missense	probably damaging	0.99
R8766:Nid2	UTSW	14	19752272	missense	probably benign	0.26
R9093:Nid2	UTSW	14	19807941	missense
R9193:Nid2	UTSW	14	19803210	missense	probably damaging	1.00
RF016:Nid2	UTSW	14	19751363	small deletion	probably benign
X0009:Nid2	UTSW	14	19802511	missense	probably damaging	1.00
X0021:Nid2	UTSW	14	19768862	missense	probably benign	0.00
X0026:Nid2	UTSW	14	19778131	missense	probably damaging	0.96
Z1177:Nid2	UTSW	14	19789808	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGGCGAACTTTCTCAGAG -3'
(R):5'- TTACGTAGAGGCTGCTGAACTG -3'

Sequencing Primer
(F):5'- GCGAACTTTCTCAGAGTCGCTG -3'
(R):5'- CTGCTGAACTGGGCATCGTAG -3'

Posted On

2019-12-04