Mutagenetix > Incidental Mutation

Incidental Mutation 'R8880:Nell2'

676878

Institutional Source

Beutler Lab

Gene Symbol

Nell2

Ensembl Gene

ENSMUSG00000022454

Gene Name

NEL-like 2

Synonyms

A330108N19Rik, mel91

MMRRC Submission

068748-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8880 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95117321-95426677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95129329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 678 (M678K)

Ref Sequence

ENSEMBL: ENSMUSP00000074751 (fasta)

Gene Model

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

AlphaFold

Q61220

Predicted Effect

probably damaging
Transcript: ENSMUST00000075275
AA Change: M678K

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

SMART Domains

Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: M678K

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: M678K

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

SMART Domains

Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: M678K

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

possibly damaging
Transcript: ENSMUST00000229933
AA Change: M678K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229981
AA Change: M678K

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,382,837 (GRCm39)	V1043I	probably benign	Het
5031439G07Rik	T	A	15: 84,839,867 (GRCm39)	I176F	possibly damaging	Het
Adam6b	T	A	12: 113,454,764 (GRCm39)	M527K	probably benign	Het
Atp10b	C	T	11: 43,106,811 (GRCm39)	T615I	probably benign	Het
Atxn2	A	G	5: 121,948,973 (GRCm39)	T1117A	probably benign	Het
AU021092	A	T	16: 5,032,585 (GRCm39)		probably benign	Het
Bcam	C	T	7: 19,492,671 (GRCm39)	V505M	probably damaging	Het
Bco2	A	T	9: 50,461,962 (GRCm39)	L14Q	probably damaging	Het
Caps2	T	G	10: 112,030,824 (GRCm39)		probably benign	Het
Cblb	T	C	16: 51,986,368 (GRCm39)	V537A	probably benign	Het
Ccdc141	A	T	2: 76,845,556 (GRCm39)	N1170K	probably benign	Het
Ccdc154	T	G	17: 25,389,129 (GRCm39)	D442E	probably benign	Het
Col24a1	A	G	3: 145,019,798 (GRCm39)	I60V	probably null	Het
Crb1	A	T	1: 139,164,886 (GRCm39)	N1140K	probably benign	Het
Ddhd1	G	A	14: 45,846,430 (GRCm39)	P621S	probably benign	Het
Ddx46	A	T	13: 55,814,033 (GRCm39)	N663I	probably benign	Het
Dgki	C	T	6: 37,011,652 (GRCm39)		probably benign	Het
Disp2	T	C	2: 118,621,239 (GRCm39)	F657S	probably damaging	Het
Dnajc2	T	C	5: 21,973,670 (GRCm39)	E262G	probably damaging	Het
Dvl2	T	A	11: 69,898,761 (GRCm39)	L408Q	possibly damaging	Het
Egflam	T	C	15: 7,267,249 (GRCm39)	D712G	probably damaging	Het
Entpd7	A	G	19: 43,692,846 (GRCm39)		probably benign	Het
Epb41	A	T	4: 131,695,104 (GRCm39)	W28R		Het
Fabp9	C	T	3: 10,262,231 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,232,602 (GRCm39)	M657L	probably benign	Het
Gfy	A	C	7: 44,827,784 (GRCm39)	L104R	possibly damaging	Het
Gm4884	A	T	7: 40,693,911 (GRCm39)	I627F	probably damaging	Het
Gm9195	A	T	14: 72,691,320 (GRCm39)	S1643T	unknown	Het
Gpsm2	C	T	3: 108,610,335 (GRCm39)	A42T	possibly damaging	Het
Gvin2	T	C	7: 105,551,120 (GRCm39)	K644R	probably benign	Het
Gys2	T	C	6: 142,402,113 (GRCm39)	Y242C	probably damaging	Het
Hbs1l	A	G	10: 21,185,868 (GRCm39)	N430S	probably damaging	Het
Idh3b	A	T	2: 130,126,004 (GRCm39)		probably benign	Het
Igdcc3	C	T	9: 65,088,550 (GRCm39)	A384V	probably benign	Het
Ighv3-4	C	T	12: 114,217,535 (GRCm39)	D19N	possibly damaging	Het
Igkv19-93	G	T	6: 68,713,494 (GRCm39)	A45E	probably damaging	Het
Il10ra	G	A	9: 45,175,631 (GRCm39)	T230M	probably damaging	Het
Kalrn	A	G	16: 34,038,305 (GRCm39)	V1009A	probably damaging	Het
Kcnma1	G	T	14: 23,417,718 (GRCm39)	A837D	probably damaging	Het
Kif7	T	A	7: 79,348,650 (GRCm39)	R1231S	probably benign	Het
Klhdc1	A	G	12: 69,298,817 (GRCm39)	D134G	possibly damaging	Het
Klk14	T	C	7: 43,343,459 (GRCm39)	V97A	probably damaging	Het
Lamb3	G	A	1: 193,003,363 (GRCm39)	V101M	possibly damaging	Het
Lrrc7	C	T	3: 157,867,381 (GRCm39)	E787K	probably damaging	Het
Mep1a	A	G	17: 43,808,808 (GRCm39)	I94T	possibly damaging	Het
Mtrex	T	A	13: 113,051,034 (GRCm39)	K180N	probably benign	Het
Ncr1	C	T	7: 4,341,336 (GRCm39)	S109L	probably benign	Het
Or12j5	C	A	7: 140,084,172 (GRCm39)	A67S	probably benign	Het
Or14c42-ps1	G	A	7: 86,211,549 (GRCm39)	C203Y	unknown	Het
Or2m13	A	T	16: 19,226,396 (GRCm39)	Y123*	probably null	Het
Or8g19	T	A	9: 39,055,899 (GRCm39)	F168I	probably damaging	Het
Pnpla1	A	C	17: 29,098,438 (GRCm39)	Y248S	probably damaging	Het
Pramel27	T	C	4: 143,573,140 (GRCm39)		probably null	Het
Prdm10	T	C	9: 31,264,742 (GRCm39)	F726L	probably damaging	Het
Prdm16	T	C	4: 154,613,370 (GRCm39)	N19S	probably damaging	Het
Prss44	A	G	9: 110,643,263 (GRCm39)	R53G	probably benign	Het
Rasgrp1	C	T	2: 117,115,425 (GRCm39)	R721Q	probably benign	Het
Rassf1	A	T	9: 107,434,740 (GRCm39)	N149I	probably damaging	Het
Rbp3	A	C	14: 33,678,796 (GRCm39)	T915P	probably benign	Het
Reg3g	A	T	6: 78,444,788 (GRCm39)	D63E	probably benign	Het
Relch	T	C	1: 105,592,220 (GRCm39)	Y130H	probably damaging	Het
Rgs3	C	A	4: 62,543,373 (GRCm39)	T236K	probably damaging	Het
Rin2	T	C	2: 145,690,772 (GRCm39)	F147L	probably damaging	Het
Slc17a1	T	C	13: 24,062,732 (GRCm39)	I266T	probably benign	Het
Slc34a3	A	T	2: 25,119,267 (GRCm39)	N534K	probably benign	Het
Smc2	A	T	4: 52,462,856 (GRCm39)	E615D	probably benign	Het
Snx16	A	C	3: 10,484,193 (GRCm39)	D343E	probably benign	Het
St18	T	A	1: 6,865,619 (GRCm39)	Y32*	probably null	Het
Svep1	C	T	4: 58,064,204 (GRCm39)	V3260I	possibly damaging	Het
Synm	C	T	7: 67,386,456 (GRCm39)	R402H	possibly damaging	Het
Tacc2	A	T	7: 130,318,564 (GRCm39)	E67V	possibly damaging	Het
Tarbp1	G	T	8: 127,198,044 (GRCm39)	N302K	probably damaging	Het
Tenm2	A	G	11: 35,942,788 (GRCm39)	S1294P	probably damaging	Het
Ttk	T	C	9: 83,751,304 (GRCm39)	S794P	probably damaging	Het
Ulk1	G	A	5: 110,934,288 (GRCm39)	A999V	probably damaging	Het
Upf2	A	G	2: 6,030,983 (GRCm39)	I808V	unknown	Het
Ush2a	A	G	1: 188,460,733 (GRCm39)	T2665A	probably benign	Het
Usp8	A	G	2: 126,590,229 (GRCm39)	K672E	probably damaging	Het
Vmn2r105	T	A	17: 20,429,229 (GRCm39)	I616F	probably damaging	Het
Vps33a	T	C	5: 123,707,506 (GRCm39)	M154V	probably damaging	Het
Wdfy4	A	C	14: 32,795,492 (GRCm39)	Y2083*	probably null	Het
Zc3hav1	A	G	6: 38,288,212 (GRCm39)	F875L	probably benign	Het
Zfp979	T	C	4: 147,697,836 (GRCm39)	N291S	probably benign	Het
Zp2	T	A	7: 119,742,835 (GRCm39)	Y99F	possibly 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
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
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'- TGCTTTCCTGTGTAACTTACCAAGC -3'
(R):5'- CAGAAATTTGGCCATTTGTGGG -3'

Sequencing Primer
(F):5'- CTGTGTAACTTACCAAGCAGCGG -3'
(R):5'- AGCACTATAATGACACATCTTGC -3'

Posted On

2021-07-15