Mutagenetix > Incidental Mutations

Incidental Mutation 'R3801:Nid2'

273002

Institutional Source

Beutler Lab

Gene Symbol

Nid2

Ensembl Gene

ENSMUSG00000021806

Gene Name

nidogen 2

Synonyms

entactin 2, entactin-2

MMRRC Submission

040760-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19751265-19811787 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19809997 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 1328 (C1328R)

Ref Sequence

ENSEMBL: ENSMUSP00000022340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022340] [ENSMUST00000022341]

AlphaFold

O88322

Predicted Effect

probably damaging
Transcript: ENSMUST00000022340
AA Change: C1328R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806
AA Change: C1328R

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: ENSMUST00000022341

SMART Domains

Protein: ENSMUSP00000022341
Gene: ENSMUSG00000021807

Domain	Start	End	E-Value	Type
Pfam:RLL	2	244	3.4e-95	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224057

Predicted Effect

unknown
Transcript: ENSMUST00000224263
AA Change: C1095R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225791

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,749,420	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,919,795	D614G	probably benign	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dsg1b	C	T	18: 20,390,203	P96S	probably damaging	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,151,926	D91G	probably benign	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nlrp1a	T	A	11: 71,122,703	M574L	probably benign	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1287	A	T	2: 111,449,565	I142F	probably benign	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Prkd1	C	A	12: 50,383,422	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	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
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
RF002:Nid2	UTSW	14	19751366	small deletion	probably benign
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'- TACAGATGCTAATGTGGACTGC -3'
(R):5'- AAGTCATAGCCCTGCAAGAC -3'

Sequencing Primer
(F):5'- CTGCAATGGGCTTAAAATGCC -3'
(R):5'- TACTGACAGAGTCAACTGGGCTTC -3'

Posted On

2015-03-25