Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Nell2'

296308

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nell2

Ensembl Gene

ENSMUSG00000022454

Gene Name

NEL-like 2

Synonyms

A330108N19Rik, mel91

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

95117321-95426677 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 95194144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075275] [ENSMUST00000166170] [ENSMUST00000229933] [ENSMUST00000229981]

AlphaFold

Q61220

Predicted Effect

probably benign
Transcript: ENSMUST00000075275

SMART Domains

Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
TSPN	32	217	9.94e-64	SMART
LamG	86	216	3.97e-8	SMART
coiled coil region	242	271	N/A	INTRINSIC
VWC	277	333	6.18e-10	SMART
VWC	337	398	3.57e0	SMART
EGF	403	442	2.02e-1	SMART
EGF_CA	443	484	2.8e-9	SMART
EGF_CA	485	525	9.47e-7	SMART
EGF	527	556	1.28e-3	SMART
EGF_CA	558	604	2.13e-9	SMART
EGF_like	605	644	9.39e-4	SMART
VWC	643	695	8.88e-1	SMART
VWC	703	758	1.13e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166170

SMART Domains

Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
TSPN	32	217	9.94e-64	SMART
LamG	86	216	3.97e-8	SMART
coiled coil region	242	271	N/A	INTRINSIC
VWC	277	333	6.18e-10	SMART
VWC	337	398	3.57e0	SMART
EGF	403	442	2.02e-1	SMART
EGF_CA	443	484	2.8e-9	SMART
EGF_CA	485	525	9.47e-7	SMART
EGF	527	556	1.28e-3	SMART
EGF_CA	558	604	2.13e-9	SMART
EGF_like	605	644	9.39e-4	SMART
VWC	643	695	8.88e-1	SMART
VWC	703	758	1.13e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229933

Predicted Effect

probably benign
Transcript: ENSMUST00000229981

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous null mice display enhanced long term potentiation in the dentate gyrus of the hippocampus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,524,096 (GRCm39)	L68M	probably damaging	Het
Abca13	T	G	11: 9,531,498 (GRCm39)	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,076,105 (GRCm39)	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,395,166 (GRCm39)	A252E	probably damaging	Het
Ap1b1	C	T	11: 4,981,700 (GRCm39)	A536V	probably benign	Het
Arhgef3	A	G	14: 27,115,957 (GRCm39)	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,238,320 (GRCm39)	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,062,642 (GRCm39)	V622M	probably damaging	Het
Aup1	A	G	6: 83,032,258 (GRCm39)	T142A	probably benign	Het
Bcl6	A	T	16: 23,796,319 (GRCm39)	I36N	probably damaging	Het
Best1	A	G	19: 9,966,514 (GRCm39)	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759 (GRCm38)	Q1150P	probably damaging	Het
Capn5	T	A	7: 97,780,403 (GRCm39)	E322D	possibly damaging	Het
Cd300ld2	A	T	11: 114,904,513 (GRCm39)	M118K	probably benign	Het
Cdh9	T	C	15: 16,856,075 (GRCm39)	L705P	probably damaging	Het
Cep170b	T	G	12: 112,709,504 (GRCm39)	N436K	probably damaging	Het
Chil6	T	A	3: 106,313,278 (GRCm39)	I24F	probably benign	Het
Chmp2a	T	A	7: 12,767,782 (GRCm39)	K48*	probably null	Het
Col19a1	C	T	1: 24,339,665 (GRCm39)		probably benign	Het
Cops7b	C	A	1: 86,520,043 (GRCm39)	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,349,069 (GRCm39)	L133H	probably damaging	Het
Dkc1	T	C	X: 74,152,339 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,900,767 (GRCm39)	Y134H	probably damaging	Het
F8	C	A	X: 74,423,204 (GRCm39)		probably benign	Het
Fus	G	A	7: 127,580,679 (GRCm39)	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gm15821	T	C	17: 34,433,259 (GRCm39)		probably benign	Het
Gm5117	C	A	8: 32,228,344 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,152 (GRCm39)	I45V	probably benign	Het
Hectd1	A	G	12: 51,847,496 (GRCm39)		probably null	Het
Ifi204	T	C	1: 173,583,220 (GRCm39)	K333E	probably benign	Het
Ildr1	G	A	16: 36,536,526 (GRCm39)	G185D	probably damaging	Het
Itgb2	G	A	10: 77,383,052 (GRCm39)	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,214,331 (GRCm39)	D226Y	probably damaging	Het
Krt77	A	G	15: 101,769,381 (GRCm39)	L460P	probably damaging	Het
Lamp3	A	G	16: 19,474,207 (GRCm39)	I389T	possibly damaging	Het
Macroh2a1	A	G	13: 56,222,143 (GRCm39)	V336A	probably damaging	Het
Mars1	C	A	10: 127,140,113 (GRCm39)	E414*	probably null	Het
Mpg	T	C	11: 32,180,042 (GRCm39)	V190A	probably damaging	Het
Myh15	A	G	16: 48,937,626 (GRCm39)	I742M	possibly damaging	Het
Nmur1	T	C	1: 86,314,057 (GRCm39)	D370G	probably benign	Het
Npsr1	A	G	9: 24,009,578 (GRCm39)	E28G	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or56a3	A	T	7: 104,735,540 (GRCm39)	I206L	probably benign	Het
Or7a42	G	T	10: 78,791,767 (GRCm39)	V243F	probably benign	Het
Or8b12c	G	A	9: 37,715,627 (GRCm39)	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,128,899 (GRCm39)	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 110,359,848 (GRCm39)	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,907,139 (GRCm39)	K685N	probably damaging	Het
Prim1	T	A	10: 127,865,652 (GRCm39)	*419R	probably null	Het
Ptk2b	G	T	14: 66,391,692 (GRCm39)	N905K	probably damaging	Het
Rbm34	T	C	8: 127,676,071 (GRCm39)	I395V	probably benign	Het
Rfx1	A	G	8: 84,822,438 (GRCm39)	E912G	possibly damaging	Het
Rngtt	T	C	4: 33,337,936 (GRCm39)	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,594,002 (GRCm39)	Y169H	possibly damaging	Het
Slc49a4	G	T	16: 35,555,928 (GRCm39)	D177E	probably benign	Het
Susd4	C	A	1: 182,719,645 (GRCm39)	T420K	probably benign	Het
Tdrd3	G	A	14: 87,749,118 (GRCm39)	G676D	probably damaging	Het
Tec	T	C	5: 72,946,587 (GRCm39)	K47E	probably damaging	Het
Tenm2	C	A	11: 35,942,743 (GRCm39)	G1308*	probably null	Het
Tmprss15	A	T	16: 78,784,629 (GRCm39)	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,096,346 (GRCm39)	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,710,378 (GRCm39)	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,261,449 (GRCm39)	T296K	probably damaging	Het
Wdr3	C	T	3: 100,059,290 (GRCm39)	S343N	probably benign	Het
Yju2	G	T	17: 56,269,051 (GRCm39)	G53V	probably damaging	Het
Zfp143	A	T	7: 109,690,993 (GRCm39)	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,580,626 (GRCm39)	I42V	probably benign	Het
Zswim5	A	T	4: 116,819,749 (GRCm39)	M385L	probably benign	Het

Other mutations in Nell2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Nell2	APN	15	95,425,166 (GRCm39)	missense	possibly damaging	0.94
IGL00919:Nell2	APN	15	95,281,608 (GRCm39)	missense	possibly damaging	0.88
IGL01124:Nell2	APN	15	95,194,060 (GRCm39)	missense	probably damaging	1.00
IGL01356:Nell2	APN	15	95,127,064 (GRCm39)	missense	probably damaging	0.99
IGL01865:Nell2	APN	15	95,282,962 (GRCm39)	missense	possibly damaging	0.74
IGL02324:Nell2	APN	15	95,126,982 (GRCm39)	missense	probably damaging	0.99
PIT4495001:Nell2	UTSW	15	95,281,608 (GRCm39)	missense	probably benign	0.33
R0112:Nell2	UTSW	15	95,329,562 (GRCm39)	splice site	probably benign
R0139:Nell2	UTSW	15	95,330,782 (GRCm39)	missense	probably benign	0.13
R0355:Nell2	UTSW	15	95,330,782 (GRCm39)	missense	probably benign	0.13
R0481:Nell2	UTSW	15	95,330,563 (GRCm39)	splice site	probably null
R0535:Nell2	UTSW	15	95,329,488 (GRCm39)	missense	probably benign	0.10
R0607:Nell2	UTSW	15	95,127,095 (GRCm39)	missense	probably benign	0.06
R1378:Nell2	UTSW	15	95,130,402 (GRCm39)	missense	probably damaging	1.00
R1688:Nell2	UTSW	15	95,329,494 (GRCm39)	missense	probably damaging	0.97
R2054:Nell2	UTSW	15	95,332,990 (GRCm39)	missense	probably benign	0.00
R2163:Nell2	UTSW	15	95,327,859 (GRCm39)	missense	probably damaging	1.00
R2176:Nell2	UTSW	15	95,333,038 (GRCm39)	missense	probably damaging	0.97
R3745:Nell2	UTSW	15	95,330,554 (GRCm39)	missense	probably damaging	1.00
R5055:Nell2	UTSW	15	95,371,460 (GRCm39)	missense	probably benign	0.00
R5184:Nell2	UTSW	15	95,425,690 (GRCm39)	missense	possibly damaging	0.78
R5382:Nell2	UTSW	15	95,127,091 (GRCm39)	missense	probably damaging	1.00
R6145:Nell2	UTSW	15	95,371,442 (GRCm39)	missense	probably damaging	1.00
R6264:Nell2	UTSW	15	95,244,706 (GRCm39)	missense	probably damaging	0.99
R6337:Nell2	UTSW	15	95,283,025 (GRCm39)	missense	probably damaging	1.00
R6423:Nell2	UTSW	15	95,425,163 (GRCm39)	missense	probably damaging	1.00
R6438:Nell2	UTSW	15	95,130,379 (GRCm39)	missense	probably damaging	1.00
R6579:Nell2	UTSW	15	95,282,957 (GRCm39)	missense	possibly damaging	0.88
R6810:Nell2	UTSW	15	95,139,468 (GRCm39)	missense	probably damaging	1.00
R6894:Nell2	UTSW	15	95,244,768 (GRCm39)	missense	probably damaging	1.00
R7016:Nell2	UTSW	15	95,127,032 (GRCm39)	missense	possibly damaging	0.87
R7266:Nell2	UTSW	15	95,333,274 (GRCm39)	missense	possibly damaging	0.50
R7761:Nell2	UTSW	15	95,330,550 (GRCm39)	missense	probably damaging	1.00
R7839:Nell2	UTSW	15	95,196,819 (GRCm39)	missense	probably benign	0.01
R7965:Nell2	UTSW	15	95,129,216 (GRCm39)	missense	probably damaging	0.99
R8000:Nell2	UTSW	15	95,333,155 (GRCm39)	missense	probably damaging	1.00
R8856:Nell2	UTSW	15	95,281,552 (GRCm39)	missense	probably damaging	1.00
R8880:Nell2	UTSW	15	95,129,329 (GRCm39)	missense	probably damaging	1.00
R8951:Nell2	UTSW	15	95,139,424 (GRCm39)	missense	probably damaging	1.00
R9036:Nell2	UTSW	15	95,194,117 (GRCm39)	missense	probably damaging	1.00
R9071:Nell2	UTSW	15	95,244,682 (GRCm39)	nonsense	probably null
R9383:Nell2	UTSW	15	95,282,957 (GRCm39)	missense	possibly damaging	0.88
R9496:Nell2	UTSW	15	95,194,097 (GRCm39)	missense	probably benign	0.10
X0038:Nell2	UTSW	15	95,425,693 (GRCm39)	missense	probably benign
Z1088:Nell2	UTSW	15	95,332,978 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16