Mutagenetix > Incidental Mutation

Incidental Mutation 'R3548:Nid2'

268315

Institutional Source

Beutler Lab

Gene Symbol

Nid2

Ensembl Gene

ENSMUSG00000021806

Gene Name

nidogen 2

Synonyms

entactin 2, entactin-2

MMRRC Submission

040667-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R3548 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

19801333-19861855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19813779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 195 (Y195N)

Ref Sequence

ENSEMBL: ENSMUSP00000022340 (fasta)

Gene Model

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

AlphaFold

O88322

Predicted Effect

probably damaging
Transcript: ENSMUST00000022340
AA Change: Y195N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: Y195N

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

probably benign
Transcript: ENSMUST00000224263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225791

Meta Mutation Damage Score

0.8482

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 92.8%

Validation Efficiency

97% (35/36)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	C	A	13: 19,287,129 (GRCm39)	H279Q	probably damaging	Het
Ankrd28	A	G	14: 31,437,217 (GRCm39)	L646S	probably benign	Het
Bmal1	A	T	7: 112,912,752 (GRCm39)	I610F	probably damaging	Het
Celf3	T	G	3: 94,395,845 (GRCm39)	C304G	probably damaging	Het
Chrnb2	T	A	3: 89,668,898 (GRCm39)	Y139F	probably benign	Het
Clcc1	T	A	3: 108,575,429 (GRCm39)	C169S	probably benign	Het
Clip1	A	G	5: 123,769,141 (GRCm39)	L532P	probably damaging	Het
Cr2	A	T	1: 194,838,196 (GRCm39)	C1089*	probably null	Het
Dnah10	A	T	5: 124,824,694 (GRCm39)	I617F	possibly damaging	Het
F12	T	C	13: 55,565,950 (GRCm39)	N132D	probably benign	Het
Fhit	T	C	14: 9,870,095 (GRCm38)	T125A	probably benign	Het
Frs3	T	G	17: 48,014,561 (GRCm39)	I418S	probably damaging	Het
Gpr149	A	T	3: 62,502,549 (GRCm39)	C436S	probably benign	Het
Igsf10	C	A	3: 59,243,935 (GRCm39)	R133L	probably damaging	Het
Il17rb	A	G	14: 29,730,729 (GRCm39)		probably null	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Khdc4	A	G	3: 88,600,443 (GRCm39)		probably benign	Het
Mtus2	C	A	5: 148,232,316 (GRCm39)	H120Q	probably damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Ncf1	T	A	5: 134,255,463 (GRCm39)	K143*	probably null	Het
Nes	C	A	3: 87,880,429 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,070,876 (GRCm39)	C790S	probably damaging	Het
Or5b12	A	T	19: 12,897,031 (GRCm39)	I214N	probably benign	Het
Phf24	T	G	4: 42,937,879 (GRCm39)	Y85*	probably null	Het
Pycr1	T	C	11: 120,533,072 (GRCm39)	S33G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sirt2	A	G	7: 28,467,096 (GRCm39)	E19G	probably damaging	Het
Sort1	T	C	3: 108,245,225 (GRCm39)	V359A	possibly damaging	Het
Tnni1	A	G	1: 135,732,791 (GRCm39)		probably null	Het
Ube2q1	T	A	3: 89,688,383 (GRCm39)	M183K	probably damaging	Het
Vmn1r50	T	A	6: 90,084,476 (GRCm39)	F74I	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
R2863:Nid2	UTSW	14	19,818,471 (GRCm39)	missense	possibly damaging	0.92
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
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'- GTGTTCAAAACCAATGTGGGG -3'
(R):5'- CCTAAATGTCATTCCAGTGGGTAAC -3'

Sequencing Primer
(F):5'- GTTCAAAACCAATGTGGGGAATTCC -3'
(R):5'- AGAGATTCTTCACAGACTGCTCGG -3'

Posted On

2015-02-19