Mutagenetix > Incidental Mutation

Incidental Mutation 'R2086:Nid2'

230020

Institutional Source

Beutler Lab

Gene Symbol

Nid2

Ensembl Gene

ENSMUSG00000021806

Gene Name

nidogen 2

Synonyms

entactin 2, entactin-2

MMRRC Submission

040091-MU

Accession Numbers

Essential gene?

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

Stock #

R2086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19801333-19861855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19828111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 516 (G516S)

Ref Sequence

ENSEMBL: ENSMUSP00000022340 (fasta)

Gene Model

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

AlphaFold

O88322

Predicted Effect

probably benign
Transcript: ENSMUST00000022340
AA Change: G516S

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: G516S

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: G250S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225791

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 124,917,767 (GRCm39)	M53T	unknown	Het
Abcb11	T	A	2: 69,089,820 (GRCm39)		probably benign	Het
Acap2	C	G	16: 30,929,763 (GRCm39)	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,146,249 (GRCm39)	R302G	probably damaging	Het
Aoc1l1	A	G	6: 48,954,536 (GRCm39)	E558G	probably damaging	Het
Ap2b1	T	G	11: 83,241,944 (GRCm39)	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,171,116 (GRCm39)	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,734,834 (GRCm39)	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,468,304 (GRCm39)	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,623,810 (GRCm39)	V37D	probably damaging	Het
Cacna1d	T	C	14: 29,769,314 (GRCm39)	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,148,570 (GRCm39)	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,349 (GRCm39)	E256G	probably damaging	Het
Cd5	A	G	19: 10,700,620 (GRCm39)	S295P	probably benign	Het
Cenpb	T	C	2: 131,020,517 (GRCm39)		probably benign	Het
Cntnap3	A	G	13: 64,942,076 (GRCm39)	M218T	possibly damaging	Het
Colec11	C	T	12: 28,644,786 (GRCm39)	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098 (GRCm39)		probably benign	Het
Csnk2a1	A	G	2: 152,096,201 (GRCm39)	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,011,733 (GRCm39)	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,981,116 (GRCm39)	Q98L	probably null	Het
Dnah11	G	T	12: 118,077,606 (GRCm39)	Q1296K	possibly damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Eid2b	C	T	7: 27,977,198 (GRCm39)		probably benign	Het
Exoc1	A	T	5: 76,680,693 (GRCm39)	K28*	probably null	Het
Fam114a1	A	G	5: 65,137,402 (GRCm39)	D115G	probably benign	Het
Fam151a	A	T	4: 106,592,760 (GRCm39)		probably null	Het
Gc	T	C	5: 89,586,201 (GRCm39)	Y313C	probably damaging	Het
Gdpd1	A	G	11: 86,926,094 (GRCm39)	Y284H	probably benign	Het
Gm21957	T	A	7: 124,818,878 (GRCm39)		noncoding transcript	Het
Golm1	G	A	13: 59,792,999 (GRCm39)	Q169*	probably null	Het
Greb1l	T	C	18: 10,523,281 (GRCm39)	V813A	probably damaging	Het
Itih1	C	T	14: 30,659,800 (GRCm39)	A279T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama1	T	C	17: 68,124,618 (GRCm39)	C2893R	probably damaging	Het
Lama3	T	A	18: 12,657,887 (GRCm39)	N334K	probably benign	Het
Loxhd1	A	G	18: 77,472,642 (GRCm39)	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,228,729 (GRCm39)	K316R	probably benign	Het
Mapre3	A	C	5: 31,020,546 (GRCm39)		probably null	Het
Mgam	T	A	6: 40,737,962 (GRCm39)		probably null	Het
Mical2	A	C	7: 111,917,810 (GRCm39)	H389P	probably benign	Het
Mtmr2	A	G	9: 13,711,248 (GRCm39)	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nodal	A	T	10: 61,259,077 (GRCm39)	E171D	possibly damaging	Het
Notch2	T	C	3: 98,009,683 (GRCm39)	S537P	probably damaging	Het
Obox6	A	G	7: 15,567,532 (GRCm39)	L305S	probably damaging	Het
Obscn	T	C	11: 58,969,082 (GRCm39)	D2715G	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or5g26	A	C	2: 85,494,090 (GRCm39)	S229R	probably benign	Het
Pcca	T	C	14: 122,923,527 (GRCm39)	S404P	probably damaging	Het
Pcdh10	T	C	3: 45,334,906 (GRCm39)	S407P	probably damaging	Het
Plekha5	C	A	6: 140,516,044 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,101,619 (GRCm39)	N72S	probably benign	Het
Ptprs	T	C	17: 56,761,984 (GRCm39)	I43V	probably null	Het
Pygm	G	A	19: 6,441,511 (GRCm39)		probably null	Het
Rab7	C	T	6: 87,989,300 (GRCm39)	V57I	probably benign	Het
Rasl10a	A	G	11: 5,009,431 (GRCm39)		probably null	Het
Rergl	T	C	6: 139,471,832 (GRCm39)	T106A	probably benign	Het
Rnf17	T	G	14: 56,720,837 (GRCm39)	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,633,126 (GRCm39)	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,600,280 (GRCm39)	M1V	probably null	Het
Rps6ka5	T	C	12: 100,585,874 (GRCm39)	T140A	possibly damaging	Het
Sbno2	T	A	10: 79,893,690 (GRCm39)	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,641,521 (GRCm39)	I68N	probably damaging	Het
Slc35a5	A	G	16: 44,964,628 (GRCm39)	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,651,772 (GRCm39)	S93W	probably damaging	Het
Slc49a3	C	T	5: 108,593,487 (GRCm39)	R117H	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Spag1	T	C	15: 36,227,287 (GRCm39)	L648P	probably damaging	Het
Tagap1	T	C	17: 7,224,102 (GRCm39)	D198G	probably benign	Het
Tedc2	T	C	17: 24,436,874 (GRCm39)	E287G	probably damaging	Het
Tjp1	C	A	7: 64,962,669 (GRCm39)	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Ttc38	T	A	15: 85,722,928 (GRCm39)	D125E	probably benign	Het
Uggt1	C	T	1: 36,231,495 (GRCm39)	R490Q	probably null	Het
Uroc1	T	G	6: 90,321,096 (GRCm39)	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,997,455 (GRCm39)	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,896,949 (GRCm39)	L99V	probably damaging	Het
Vps13c	C	T	9: 67,857,571 (GRCm39)	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830 (GRCm39)	L932P	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
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'- TCTGAGCATCTTGCCAGAAC -3'
(R):5'- AGAACCCACACTGGAACTGG -3'

Sequencing Primer
(F):5'- AGTTAATCCCTCAGGCTGAATG -3'
(R):5'- GAAACAGGCAGGGGTCAACAATATAC -3'

Posted On

2014-09-18