Mutagenetix > Incidental Mutation

Incidental Mutation 'R0607:Nell2'

54332

Institutional Source

Beutler Lab

Gene Symbol

Nell2

Ensembl Gene

ENSMUSG00000022454

Gene Name

NEL-like 2

Synonyms

A330108N19Rik, mel91

MMRRC Submission

038796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0607 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95117321-95426677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95127095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 760 (T760I)

Ref Sequence

ENSEMBL: ENSMUSP00000155436 (fasta)

Gene Model

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

AlphaFold

Q61220

Predicted Effect

probably benign
Transcript: ENSMUST00000075275
AA Change: T760I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: T760I

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
AA Change: T760I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: T760I

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
AA Change: T760I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000229981
AA Change: T760I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 95.1%

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: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,288,625 (GRCm39)	E146G	probably benign	Het
Abca4	G	A	3: 121,950,081 (GRCm39)	G594S	probably damaging	Het
Acacb	T	C	5: 114,338,362 (GRCm39)	Y726H	probably damaging	Het
Adam20	T	A	8: 41,248,517 (GRCm39)	M209K	probably benign	Het
Adam29	A	G	8: 56,326,310 (GRCm39)	V48A	probably damaging	Het
Adss2	A	G	1: 177,595,253 (GRCm39)	V429A	possibly damaging	Het
Aff1	T	C	5: 103,976,320 (GRCm39)	S481P	probably damaging	Het
Akr1c19	G	A	13: 4,288,459 (GRCm39)	A146T	probably benign	Het
Ankhd1	G	T	18: 36,773,333 (GRCm39)	V59F	probably damaging	Het
Ankmy1	T	G	1: 92,816,397 (GRCm39)	Y239S	probably damaging	Het
Ankrd24	G	T	10: 81,474,142 (GRCm39)	C19F	probably damaging	Het
Apaf1	T	C	10: 90,845,065 (GRCm39)	H1002R	probably damaging	Het
Apc2	T	C	10: 80,149,935 (GRCm39)	I1663T	probably benign	Het
Apcdd1	A	G	18: 63,084,967 (GRCm39)	N388S	possibly damaging	Het
Arap2	G	A	5: 62,763,474 (GRCm39)	P1557S	possibly damaging	Het
Armc2	T	A	10: 41,798,691 (GRCm39)	H706L	probably benign	Het
Arrb1	T	C	7: 99,237,403 (GRCm39)		probably null	Het
Atl3	T	C	19: 7,507,031 (GRCm39)		probably null	Het
B9d2	A	G	7: 25,382,757 (GRCm39)	T44A	probably damaging	Het
Btbd3	C	T	2: 138,125,736 (GRCm39)	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193 (GRCm39)	I343T	probably benign	Het
Cacna1a	A	G	8: 85,356,460 (GRCm39)	D1901G	probably damaging	Het
Ccdc42	C	T	11: 68,488,536 (GRCm39)	Q312*	probably null	Het
Cdh18	T	C	15: 23,410,876 (GRCm39)	Y454H	probably benign	Het
Celf5	G	A	10: 81,301,839 (GRCm39)	T317I	probably damaging	Het
Celsr2	A	T	3: 108,311,211 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,414,660 (GRCm39)		probably null	Het
Cep350	T	C	1: 155,747,794 (GRCm39)	D2042G	probably damaging	Het
Chd3	T	C	11: 69,235,184 (GRCm39)	D2054G	probably damaging	Het
Chgb	A	G	2: 132,635,255 (GRCm39)	H399R	probably benign	Het
Clp1	C	T	2: 84,555,935 (GRCm39)	A182T	possibly damaging	Het
Col15a1	A	G	4: 47,282,654 (GRCm39)	N777S	probably damaging	Het
Coq6	A	G	12: 84,415,412 (GRCm39)	D145G	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,108 (GRCm39)	Y325C	probably benign	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cyp4x1	T	A	4: 114,970,023 (GRCm39)	D368V	probably damaging	Het
D430041D05Rik	C	T	2: 104,063,790 (GRCm39)	R1354H	probably damaging	Het
D6Ertd527e	A	C	6: 87,088,887 (GRCm39)	D350A	unknown	Het
Ddx24	A	G	12: 103,385,326 (GRCm39)	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,360,426 (GRCm39)	Y43*	probably null	Het
Dgka	A	G	10: 128,556,338 (GRCm39)		probably null	Het
Dhx38	A	T	8: 110,285,575 (GRCm39)	D419E	probably benign	Het
Dlg1	G	A	16: 31,656,992 (GRCm39)	V596I	possibly damaging	Het
Dlg1	C	A	16: 31,484,398 (GRCm39)	Q9K	probably benign	Het
Dnah11	A	C	12: 118,046,246 (GRCm39)	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,369,995 (GRCm39)	N4473K	probably benign	Het
Dync2h1	A	C	9: 7,051,480 (GRCm39)	S3152A	probably benign	Het
Egfl7	C	T	2: 26,479,452 (GRCm39)	T68I	probably damaging	Het
Eif2a	G	A	3: 58,463,073 (GRCm39)		probably null	Het
Emb	G	A	13: 117,369,286 (GRCm39)	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,410,386 (GRCm39)	C397S	probably damaging	Het
Entpd3	A	G	9: 120,386,471 (GRCm39)	T151A	possibly damaging	Het
Ero1b	A	G	13: 12,589,747 (GRCm39)	D50G	probably damaging	Het
Fam219a	A	G	4: 41,520,242 (GRCm39)	*169Q	probably null	Het
Fga	G	A	3: 82,935,869 (GRCm39)	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,864,333 (GRCm39)	F34L	probably benign	Het
Fsd2	T	A	7: 81,194,765 (GRCm39)	D466V	probably damaging	Het
Gja1	A	G	10: 56,264,166 (GRCm39)	Y175C	possibly damaging	Het
Gm5478	T	A	15: 101,553,059 (GRCm39)	I338F	probably damaging	Het
Greb1	T	A	12: 16,732,194 (GRCm39)	Y1589F	probably damaging	Het
Grk3	C	T	5: 113,067,919 (GRCm39)	E537K	probably damaging	Het
H2-K2	G	T	17: 34,218,474 (GRCm39)	D127E	probably damaging	Het
Hcrtr2	A	G	9: 76,137,966 (GRCm39)	L383P	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ikbke	A	T	1: 131,197,921 (GRCm39)		probably null	Het
Il1r2	A	G	1: 40,144,615 (GRCm39)	K101E	probably benign	Het
Itga11	A	T	9: 62,681,653 (GRCm39)	H1054L	probably benign	Het
Kif13a	A	T	13: 46,956,187 (GRCm39)	V539D	probably damaging	Het
Kifc1	G	A	17: 34,105,621 (GRCm39)	T62I	probably damaging	Het
Klhl28	A	G	12: 64,998,529 (GRCm39)	Y322H	probably damaging	Het
Klhl6	C	A	16: 19,775,764 (GRCm39)	D265Y	possibly damaging	Het
Krt86	T	A	15: 101,377,412 (GRCm39)	C479S	unknown	Het
Lama2	C	T	10: 27,065,127 (GRCm39)	R1179H	probably benign	Het
Lce6a	A	T	3: 92,527,635 (GRCm39)	H57Q	probably benign	Het
Lcn11	T	C	2: 25,669,305 (GRCm39)	V154A	probably benign	Het
Lnpep	A	T	17: 17,758,816 (GRCm39)	F843I	probably damaging	Het
Lrrc49	C	T	9: 60,573,640 (GRCm39)	V281I	probably benign	Het
Lrrtm1	C	A	6: 77,221,611 (GRCm39)	A356E	probably damaging	Het
Map3k1	A	C	13: 111,900,044 (GRCm39)	H493Q	probably benign	Het
Mcm4	A	T	16: 15,449,979 (GRCm39)		probably null	Het
Mdn1	C	T	4: 32,712,014 (GRCm39)	P1844L	probably damaging	Het
Mdn1	T	A	4: 32,732,829 (GRCm39)	D3076E	probably benign	Het
Med6	A	T	12: 81,635,798 (GRCm39)	L27H	probably damaging	Het
Mrtfb	A	G	16: 13,199,465 (GRCm39)	E106G	probably damaging	Het
Myo7a	T	A	7: 97,721,153 (GRCm39)	T1271S	probably damaging	Het
Myo9a	T	A	9: 59,829,076 (GRCm39)	M2376K	probably benign	Het
Neurod6	C	T	6: 55,656,572 (GRCm39)	A22T	probably benign	Het
Nlrp10	T	C	7: 108,523,492 (GRCm39)	K663E	probably benign	Het
Nopchap1	T	C	10: 83,197,961 (GRCm39)	S56P	probably benign	Het
Npr3	T	A	15: 11,845,368 (GRCm39)	K501N	probably benign	Het
Nr2f2	C	A	7: 70,004,460 (GRCm39)	R264L	probably damaging	Het
Nup35	T	A	2: 80,472,984 (GRCm39)	M19K	probably benign	Het
Oacyl	A	T	18: 65,880,962 (GRCm39)	Q592L	possibly damaging	Het
Or10a4	T	A	7: 106,696,933 (GRCm39)	I87K	probably benign	Het
Or1ad6	C	A	11: 50,860,670 (GRCm39)	A275D	possibly damaging	Het
Or2v1	C	G	11: 49,025,549 (GRCm39)	H177D	probably damaging	Het
Or4a71	A	G	2: 89,358,451 (GRCm39)	V101A	possibly damaging	Het
Or5af1	T	A	11: 58,722,798 (GRCm39)	S273T	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5b122	T	A	19: 13,563,534 (GRCm39)	Y289N	probably damaging	Het
Or5p51	A	G	7: 107,444,776 (GRCm39)	S55P	probably damaging	Het
Or6c76b	T	G	10: 129,693,070 (GRCm39)	S228A	possibly damaging	Het
Or8k25	T	A	2: 86,243,514 (GRCm39)	N294I	probably damaging	Het
Or9k7	T	C	10: 130,046,939 (GRCm39)	E20G	probably benign	Het
Patl2	T	C	2: 121,957,150 (GRCm39)	Y128C	probably benign	Het
Pcdhac2	A	G	18: 37,278,942 (GRCm39)	I641V	probably benign	Het
Polr2b	T	C	5: 77,461,006 (GRCm39)		probably benign	Het
Pot1b	A	T	17: 55,972,765 (GRCm39)	I469N	probably damaging	Het
Prdm11	G	T	2: 92,844,130 (GRCm39)	D33E	possibly damaging	Het
Prkdc	A	G	16: 15,589,921 (GRCm39)	S2595G	probably damaging	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Prrc2b	G	T	2: 32,103,882 (GRCm39)	R1120L	probably damaging	Het
Prss38	T	C	11: 59,266,369 (GRCm39)	S30G	possibly damaging	Het
Raph1	A	T	1: 60,565,028 (GRCm39)	L153Q	probably damaging	Het
Reck	A	G	4: 43,940,719 (GRCm39)	T843A	probably benign	Het
Rgs7bp	T	C	13: 105,103,610 (GRCm39)	N164D	probably benign	Het
Rpusd4	C	A	9: 35,179,289 (GRCm39)	A35D	possibly damaging	Het
Setd1b	T	C	5: 123,298,014 (GRCm39)		probably benign	Het
Siglec15	G	T	18: 78,089,352 (GRCm39)	D297E	probably benign	Het
Skint7	T	A	4: 111,834,656 (GRCm39)	C13*	probably null	Het
Slc5a12	A	G	2: 110,463,088 (GRCm39)	M395V	probably benign	Het
Sohlh2	C	A	3: 55,115,104 (GRCm39)	S363Y	probably damaging	Het
Srgap3	A	T	6: 112,700,080 (GRCm39)	V966E	probably damaging	Het
Stk4	C	T	2: 163,940,462 (GRCm39)	P266L	probably damaging	Het
Stxbp5l	G	A	16: 36,962,794 (GRCm39)	H754Y	probably benign	Het
Synpo2l	A	T	14: 20,710,748 (GRCm39)	M624K	probably damaging	Het
Tas2r136	T	C	6: 132,754,375 (GRCm39)	I251V	probably benign	Het
Tecpr1	C	T	5: 144,149,408 (GRCm39)	V340M	probably damaging	Het
Tecta	C	T	9: 42,299,501 (GRCm39)	G196S	probably damaging	Het
Tex55	A	C	16: 38,648,726 (GRCm39)	S128A	probably benign	Het
Thsd7a	T	A	6: 12,331,541 (GRCm39)		probably null	Het
Timeless	T	C	10: 128,082,203 (GRCm39)	V577A	probably benign	Het
Tln1	A	T	4: 43,553,071 (GRCm39)	V340E	probably damaging	Het
Tmem132c	T	A	5: 127,640,617 (GRCm39)	Y929*	probably null	Het
Tmprss7	C	T	16: 45,489,914 (GRCm39)	R436Q	probably damaging	Het
Tnik	A	C	3: 28,704,308 (GRCm39)	K989T	probably damaging	Het
Tnxb	T	A	17: 34,890,892 (GRCm39)	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,726,103 (GRCm39)		probably null	Het
Trpm6	C	A	19: 18,849,585 (GRCm39)	T1704N	probably benign	Het
Tsc2	A	T	17: 24,840,686 (GRCm39)	V391E	probably damaging	Het
Ttc22	T	C	4: 106,496,510 (GRCm39)	V520A	possibly damaging	Het
Ttc3	T	A	16: 94,257,644 (GRCm39)	Y1650*	probably null	Het
Vmn2r24	A	G	6: 123,763,893 (GRCm39)	T257A	probably benign	Het
Xab2	A	C	8: 3,663,605 (GRCm39)	N408K	probably benign	Het
Zbtb42	A	T	12: 112,647,061 (GRCm39)	Y412F	probably benign	Het
Zfp282	A	G	6: 47,857,303 (GRCm39)	N179D	probably damaging	Het
Zfp62	C	A	11: 49,106,227 (GRCm39)	T106K	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTAACAAAGCTGACCTTCCTTCC -3'
(R):5'- AAAGAGATGCCACCATCCGCTG -3'

Sequencing Primer
(F):5'- ACCTCTGCTTACGGGACAC -3'
(R):5'- CTATAGATTCTCTGAAGATGGACGG -3'

Posted On

2013-07-11