Mutagenetix > Incidental Mutation

Incidental Mutation 'R1117:Nid2'

97444

Institutional Source

Beutler Lab

Gene Symbol

Nid2

Ensembl Gene

ENSMUSG00000021806

Gene Name

nidogen 2

Synonyms

entactin 2, entactin-2

MMRRC Submission

039190-MU

Accession Numbers

Essential gene?

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

Stock #

R1117 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19801333-19861855 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to C at 19813732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022340 (fasta)

Gene Model

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

AlphaFold

O88322

Predicted Effect

probably null
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

Predicted Effect

probably null
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

Predicted Effect

probably benign
Transcript: ENSMUST00000224263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225791

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.1%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	G	A	10: 83,344,487 (GRCm39)	T353I	probably benign	Het
Arpc1b	T	C	5: 145,062,564 (GRCm39)	V226A	possibly damaging	Het
Casz1	C	A	4: 149,019,052 (GRCm39)	T451K	probably damaging	Het
Ccr4	C	T	9: 114,321,085 (GRCm39)	V327M	probably benign	Het
Cntrl	A	G	2: 35,017,985 (GRCm39)	E465G	probably damaging	Het
Cpa1	A	G	6: 30,645,260 (GRCm39)	D412G	probably benign	Het
Crispld1	T	A	1: 17,819,846 (GRCm39)	N281K	probably benign	Het
Cul3	T	C	1: 80,258,641 (GRCm39)	Q465R	probably damaging	Het
Cyp2c68	G	A	19: 39,700,903 (GRCm39)	T305M	probably damaging	Het
Elp4	T	C	2: 105,672,656 (GRCm39)	D143G	probably benign	Het
Etnppl	A	G	3: 130,428,212 (GRCm39)	I462M	probably benign	Het
Fmo4	A	G	1: 162,631,232 (GRCm39)	V245A	probably benign	Het
Gm4076	A	G	13: 85,275,437 (GRCm39)		noncoding transcript	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Kcnj15	G	A	16: 95,096,484 (GRCm39)	M8I	probably benign	Het
Klk1b22	A	T	7: 43,766,283 (GRCm39)	M255L	probably benign	Het
Mmrn1	T	A	6: 60,953,309 (GRCm39)	I530K	possibly damaging	Het
Muc21	T	C	17: 35,930,920 (GRCm39)		probably benign	Het
Or10g6	T	C	9: 39,934,058 (GRCm39)	F123S	probably damaging	Het
Or10h28	C	T	17: 33,487,940 (GRCm39)	R81*	probably null	Het
Or9e1	A	G	11: 58,732,641 (GRCm39)	K234E	possibly damaging	Het
Peak1	G	A	9: 56,165,702 (GRCm39)	T742M	probably benign	Het
Sel1l3	T	A	5: 53,329,949 (GRCm39)	T469S	probably benign	Het
Sez6	A	G	11: 77,865,340 (GRCm39)	Y659C	probably damaging	Het
Slc19a2	A	T	1: 164,091,025 (GRCm39)	I278F	possibly damaging	Het
Slc36a3	T	C	11: 55,037,006 (GRCm39)	I100V	possibly damaging	Het
Tcerg1	A	G	18: 42,707,717 (GRCm39)	D1079G	probably damaging	Het
Trim43c	T	C	9: 88,727,030 (GRCm39)	S286P	probably benign	Het
Umod	T	C	7: 119,076,529 (GRCm39)	N79S	possibly damaging	Het
Wdr43	A	G	17: 71,923,382 (GRCm39)	T43A	probably benign	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
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
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'- TGCAGCCCTGAAAGTTTTAAGCCAG -3'
(R):5'- TCCAGTGGGTAACACAGGCACATC -3'

Sequencing Primer
(F):5'- CTGAAAGTTTTAAGCCAGTGTTTTAC -3'
(R):5'- GGTAGAGATTCTTCACAGACTGCTC -3'

Posted On

2014-01-05