Mutagenetix > Incidental Mutation

Incidental Mutation 'R2863:Nid2'

253055

Institutional Source

Beutler Lab

Gene Symbol

Nid2

Ensembl Gene

ENSMUSG00000021806

Gene Name

nidogen 2

Synonyms

entactin 2, entactin-2

MMRRC Submission

040453-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R2863 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19801333-19861855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19818471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 322 (E322K)

Ref Sequence

ENSEMBL: ENSMUSP00000022340 (fasta)

Gene Model

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

AlphaFold

O88322

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022340
AA Change: E322K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: E322K

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

Predicted Effect

unknown
Transcript: ENSMUST00000224263
AA Change: E56K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225791

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armh3	A	T	19: 45,874,396 (GRCm39)	N592K	probably damaging	Het
Bag5	T	C	12: 111,677,029 (GRCm39)	T265A	probably benign	Het
Bmper	A	G	9: 23,395,237 (GRCm39)	N656S	probably benign	Het
Boc	A	G	16: 44,313,323 (GRCm39)	S514P	probably benign	Het
Ddx6	G	T	9: 44,525,553 (GRCm39)	L103F	probably damaging	Het
Epb41l3	C	T	17: 69,517,316 (GRCm39)	P115S	probably benign	Het
Exoc6	T	C	19: 37,641,861 (GRCm39)	F709S	probably benign	Het
Fnip1	T	C	11: 54,393,250 (GRCm39)	I562T	probably damaging	Het
Fxr2	T	A	11: 69,530,253 (GRCm39)	I40N	probably damaging	Het
Ifna6	G	C	4: 88,746,099 (GRCm39)	R149S	probably benign	Het
Ifna6	C	A	4: 88,746,086 (GRCm39)	T145K	probably benign	Het
Ldb2	T	C	5: 44,637,666 (GRCm39)	Q214R	probably damaging	Het
Mus81	T	G	19: 5,536,528 (GRCm39)	Y146S	probably damaging	Het
Myh11	T	C	16: 14,057,290 (GRCm39)	I335V	probably benign	Het
Odad1	T	C	7: 45,597,736 (GRCm39)	S549P	probably benign	Het
Ofcc1	A	T	13: 40,226,236 (GRCm39)	S765R	probably damaging	Het
Ofcc1	T	A	13: 40,241,414 (GRCm39)	H698L	possibly damaging	Het
Or8b56	T	A	9: 38,739,835 (GRCm39)	F283I	possibly damaging	Het
Otog	T	G	7: 45,918,730 (GRCm39)	C935W	probably damaging	Het
Pcdhga3	T	C	18: 37,807,643 (GRCm39)	V32A	probably damaging	Het
Phc3	C	T	3: 30,968,277 (GRCm39)	D920N	probably damaging	Het
Pou6f1	A	G	15: 100,478,689 (GRCm39)		probably null	Het
Ppp4c	A	T	7: 126,391,272 (GRCm39)	I20N	probably damaging	Het
Prkag2	T	A	5: 25,226,790 (GRCm39)	T156S	probably benign	Het
Psd	T	C	19: 46,303,201 (GRCm39)	D95G	probably damaging	Het
Riox2	A	G	16: 59,309,756 (GRCm39)	D370G	probably damaging	Het
Spink14	T	A	18: 44,163,948 (GRCm39)	C39S	probably damaging	Het
Tdrd9	T	C	12: 111,997,695 (GRCm39)	V728A	probably benign	Het
Tgm2	T	C	2: 157,985,019 (GRCm39)	E29G	probably benign	Het
Wdr35	T	A	12: 9,078,060 (GRCm39)	Y1139*	probably null	Het
Wdr95	T	A	5: 149,505,321 (GRCm39)	C367*	probably null	Het
Zfp35	T	A	18: 24,137,352 (GRCm39)	D565E	probably damaging	Het

Other mutations in Nid2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Nid2	APN	14	19,818,745 (GRCm39)	missense	probably benign
IGL01788:Nid2	APN	14	19,858,047 (GRCm39)	missense	probably damaging	1.00
IGL02259:Nid2	APN	14	19,818,277 (GRCm39)	critical splice acceptor site	probably null
IGL03084:Nid2	APN	14	19,819,000 (GRCm39)	missense	probably benign	0.05
IGL03247:Nid2	APN	14	19,829,688 (GRCm39)	missense	probably damaging	1.00
IGL03098:Nid2	UTSW	14	19,856,006 (GRCm39)	missense	probably damaging	0.99
PIT4810001:Nid2	UTSW	14	19,860,158 (GRCm39)	missense	possibly damaging	0.82
R0173:Nid2	UTSW	14	19,852,400 (GRCm39)	splice site	probably benign
R0501:Nid2	UTSW	14	19,839,736 (GRCm39)	splice site	probably null
R1117:Nid2	UTSW	14	19,813,732 (GRCm39)	critical splice acceptor site	probably null
R1305:Nid2	UTSW	14	19,818,930 (GRCm39)	missense	probably benign	0.00
R1572:Nid2	UTSW	14	19,855,480 (GRCm39)	missense	probably benign	0.08
R1594:Nid2	UTSW	14	19,831,329 (GRCm39)	missense	probably benign	0.03
R1789:Nid2	UTSW	14	19,802,499 (GRCm39)	missense	possibly damaging	0.95
R1927:Nid2	UTSW	14	19,818,344 (GRCm39)	missense	probably damaging	1.00
R2085:Nid2	UTSW	14	19,828,111 (GRCm39)	missense	probably benign	0.12
R2086:Nid2	UTSW	14	19,828,111 (GRCm39)	missense	probably benign	0.12
R2100:Nid2	UTSW	14	19,828,946 (GRCm39)	nonsense	probably null
R2158:Nid2	UTSW	14	19,828,111 (GRCm39)	missense	probably benign	0.12
R2240:Nid2	UTSW	14	19,855,982 (GRCm39)	missense	probably damaging	0.99
R2314:Nid2	UTSW	14	19,839,829 (GRCm39)	missense	probably benign	0.01
R3113:Nid2	UTSW	14	19,828,111 (GRCm39)	missense	probably benign	0.12
R3545:Nid2	UTSW	14	19,813,779 (GRCm39)	missense	probably damaging	1.00
R3548:Nid2	UTSW	14	19,813,779 (GRCm39)	missense	probably damaging	1.00
R3801:Nid2	UTSW	14	19,860,065 (GRCm39)	missense	probably damaging	1.00
R4618:Nid2	UTSW	14	19,858,078 (GRCm39)	missense	probably damaging	0.99
R4798:Nid2	UTSW	14	19,839,829 (GRCm39)	missense	probably benign	0.01
R4953:Nid2	UTSW	14	19,828,146 (GRCm39)	nonsense	probably null
R5256:Nid2	UTSW	14	19,818,276 (GRCm39)	critical splice acceptor site	probably null
R5289:Nid2	UTSW	14	19,855,379 (GRCm39)	missense	possibly damaging	0.95
R5302:Nid2	UTSW	14	19,829,769 (GRCm39)	missense	probably benign
R5409:Nid2	UTSW	14	19,856,030 (GRCm39)	missense	probably damaging	1.00
R5514:Nid2	UTSW	14	19,852,535 (GRCm39)	missense	probably damaging	1.00
R6134:Nid2	UTSW	14	19,828,851 (GRCm39)	missense	probably damaging	1.00
R6365:Nid2	UTSW	14	19,853,201 (GRCm39)	missense	probably damaging	1.00
R6647:Nid2	UTSW	14	19,852,484 (GRCm39)	missense	probably benign	0.04
R6758:Nid2	UTSW	14	19,852,551 (GRCm39)	missense	probably damaging	1.00
R6882:Nid2	UTSW	14	19,839,775 (GRCm39)	missense	probably damaging	1.00
R6893:Nid2	UTSW	14	19,839,855 (GRCm39)	missense	probably benign	0.34
R7045:Nid2	UTSW	14	19,829,749 (GRCm39)	missense	possibly damaging	0.94
R7392:Nid2	UTSW	14	19,818,724 (GRCm39)	missense	probably benign	0.00
R7477:Nid2	UTSW	14	19,856,041 (GRCm39)	missense	probably benign	0.09
R7515:Nid2	UTSW	14	19,841,635 (GRCm39)	missense	probably benign	0.06
R7547:Nid2	UTSW	14	19,847,345 (GRCm39)	missense	probably benign
R7594:Nid2	UTSW	14	19,818,791 (GRCm39)	missense	probably benign	0.00
R7615:Nid2	UTSW	14	19,852,598 (GRCm39)	missense	probably damaging	1.00
R7680:Nid2	UTSW	14	19,829,715 (GRCm39)	missense	probably damaging	1.00
R8097:Nid2	UTSW	14	19,848,657 (GRCm39)	missense	possibly damaging	0.77
R8167:Nid2	UTSW	14	19,860,131 (GRCm39)	missense	possibly damaging	0.57
R8292:Nid2	UTSW	14	19,818,346 (GRCm39)	missense	probably damaging	0.99
R8766:Nid2	UTSW	14	19,802,340 (GRCm39)	missense	probably benign	0.26
R9093:Nid2	UTSW	14	19,858,009 (GRCm39)	missense
R9193:Nid2	UTSW	14	19,853,278 (GRCm39)	missense	probably damaging	1.00
RF002:Nid2	UTSW	14	19,801,434 (GRCm39)	small deletion	probably benign
RF016:Nid2	UTSW	14	19,801,431 (GRCm39)	small deletion	probably benign
X0009:Nid2	UTSW	14	19,852,579 (GRCm39)	missense	probably damaging	1.00
X0021:Nid2	UTSW	14	19,818,930 (GRCm39)	missense	probably benign	0.00
X0026:Nid2	UTSW	14	19,828,199 (GRCm39)	missense	probably damaging	0.96
Z1177:Nid2	UTSW	14	19,839,876 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCTTAGGCTAAGCAACCTGGG -3'
(R):5'- AAGCCGATTCTGTTTCCCGG -3'

Sequencing Primer
(F):5'- TAAGCAACCTGGGGATTCCTG -3'
(R):5'- CGGTAGGATGGCCAGTTAC -3'

Posted On

2014-12-04