Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Nell2'

488838

Institutional Source

Beutler Lab

Gene Symbol

Nell2

Ensembl Gene

ENSMUSG00000022454

Gene Name

NEL-like 2

Synonyms

A330108N19Rik, mel91

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95117321-95426677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95371442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 98 (Q98K)

Ref Sequence

ENSEMBL: ENSMUSP00000155436 (fasta)

Gene Model

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

AlphaFold

Q61220

Predicted Effect

probably damaging
Transcript: ENSMUST00000075275
AA Change: Q98K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: Q98K

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 damaging
Transcript: ENSMUST00000166170
AA Change: Q98K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: Q98K

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 damaging
Transcript: ENSMUST00000229933
AA Change: Q98K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229981
AA Change: Q98K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 85,980,664 (GRCm39)		probably null	Het
Abca8b	A	G	11: 109,864,634 (GRCm39)	V316A	probably benign	Het
Acad10	A	T	5: 121,760,096 (GRCm39)	V999D	probably damaging	Het
Acot8	A	G	2: 164,644,985 (GRCm39)	V66A	probably benign	Het
Ankrd11	T	C	8: 123,619,400 (GRCm39)	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,885,730 (GRCm39)	F405S	probably damaging	Het
Asmt	G	A	X: 169,108,398 (GRCm39)	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,114,805 (GRCm39)	V327I	probably damaging	Het
Brdt	A	G	5: 107,525,865 (GRCm39)	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,353,087 (GRCm39)	C313S	probably damaging	Het
Camk2d	T	C	3: 126,599,507 (GRCm39)	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794 (GRCm39)	H58L	probably damaging	Het
Ccdc78	C	A	17: 26,008,039 (GRCm39)	P317T	probably benign	Het
Cdc16	T	G	8: 13,817,573 (GRCm39)	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 117,321,717 (GRCm39)	N270I	probably damaging	Het
Cfap221	T	A	1: 119,912,546 (GRCm39)	I114F	possibly damaging	Het
Dmxl1	A	G	18: 50,045,833 (GRCm39)	E2414G	possibly damaging	Het
Dnaaf9	T	C	2: 130,620,393 (GRCm39)	I247V	probably benign	Het
Dnah1	C	A	14: 31,022,927 (GRCm39)	R1070L	probably benign	Het
Dnah14	T	C	1: 181,493,982 (GRCm39)	S1713P	probably benign	Het
Dock10	C	A	1: 80,553,621 (GRCm39)	G602*	probably null	Het
Ep400	A	T	5: 110,904,569 (GRCm39)	V10D	possibly damaging	Het
Epas1	T	C	17: 87,136,857 (GRCm39)	C807R	probably benign	Het
Esrrb	C	T	12: 86,552,673 (GRCm39)	P200L	probably benign	Het
Fbxw26	T	C	9: 109,561,691 (GRCm39)	I168V	probably benign	Het
Fsip2	A	T	2: 82,824,112 (GRCm39)	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,788,762 (GRCm39)	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,520,438 (GRCm39)	T43P	probably damaging	Het
Gm5134	A	T	10: 75,831,673 (GRCm39)	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,270,266 (GRCm39)	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,455,765 (GRCm39)	Y216*	probably null	Het
Grm5	T	A	7: 87,675,809 (GRCm39)	M441K	probably damaging	Het
Heatr6	A	G	11: 83,656,962 (GRCm39)	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,892,391 (GRCm39)	K201N	probably damaging	Het
Igsf10	T	A	3: 59,239,077 (GRCm39)	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,685,057 (GRCm39)	D131V	probably damaging	Het
Imp4	A	G	1: 34,479,177 (GRCm39)	E19G	probably benign	Het
Kcnk18	T	C	19: 59,224,039 (GRCm39)	*395Q	probably null	Het
Kdm6b	A	T	11: 69,295,852 (GRCm39)	L805Q	unknown	Het
Lgr4	T	A	2: 109,837,588 (GRCm39)	L427*	probably null	Het
Myt1l	G	A	12: 29,882,380 (GRCm39)	S525N	unknown	Het
Nasp	G	A	4: 116,468,274 (GRCm39)	T237I	probably benign	Het
Nfasc	C	T	1: 132,562,455 (GRCm39)	G107R	probably damaging	Het
Nsun4	A	G	4: 115,897,403 (GRCm39)	S203P	probably damaging	Het
Or1m1	T	G	9: 18,666,865 (GRCm39)	D22A	probably benign	Het
Or7g35	T	C	9: 19,496,184 (GRCm39)	V117A	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pde10a	T	C	17: 9,147,949 (GRCm39)	V366A	probably damaging	Het
Pdxk	T	A	10: 78,279,625 (GRCm39)	D250V	probably benign	Het
Pih1d1	T	A	7: 44,808,468 (GRCm39)	I179N	probably damaging	Het
Plaa	T	A	4: 94,472,229 (GRCm39)	I294F	probably damaging	Het
Pmel	C	A	10: 128,551,804 (GRCm39)	P213T	probably damaging	Het
Pom121l2	A	T	13: 22,166,472 (GRCm39)	R248*	probably null	Het
Pou2f1	T	C	1: 165,703,002 (GRCm39)		probably benign	Het
Ppm1j	G	A	3: 104,688,695 (GRCm39)	R98H	probably damaging	Het
Prkdc	C	T	16: 15,589,937 (GRCm39)	P2600L	probably damaging	Het
Prom1	T	C	5: 44,186,991 (GRCm39)	N422S	probably benign	Het
Pspn	C	T	17: 57,306,467 (GRCm39)	C154Y	probably damaging	Het
Ptdss1	T	C	13: 67,120,701 (GRCm39)		probably null	Het
Rapgef1	A	G	2: 29,626,678 (GRCm39)	Y993C	probably damaging	Het
Scrn2	A	C	11: 96,923,679 (GRCm39)	T219P	probably benign	Het
Sec23ip	T	G	7: 128,380,208 (GRCm39)	S874R	probably damaging	Het
Septin4	G	A	11: 87,476,072 (GRCm39)		probably null	Het
Slc15a3	C	T	19: 10,834,615 (GRCm39)	L499F	probably damaging	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Sra1	A	G	18: 36,800,628 (GRCm39)	M193T	probably damaging	Het
Srsf4	G	T	4: 131,627,605 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,002,750 (GRCm39)	D8055G	probably damaging	Het
Syne4	T	A	7: 30,015,988 (GRCm39)		probably null	Het
Tbc1d24	C	A	17: 24,427,203 (GRCm39)	G253V	probably damaging	Het
Tbck	T	A	3: 132,437,976 (GRCm39)	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030 (GRCm39)	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,619,031 (GRCm39)	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,214,072 (GRCm39)	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,283,113 (GRCm39)	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,314,364 (GRCm39)	F206L	probably benign	Het
Zfp346	A	G	13: 55,263,387 (GRCm39)	K156R	probably damaging	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
IGL02505:Nell2	APN	15	95,194,144 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGACTCTGCATGCAGTACTG -3'
(R):5'- GGTGCACTGCATTGTATATAGC -3'

Sequencing Primer
(F):5'- GTATGCAAACACCACAGAG -3'
(R):5'- GTGCACTGCATTGTATATAGCATAAG -3'

Posted On

2017-10-10