Mutagenetix > Incidental Mutation

Incidental Mutation 'R6894:Nell2'

538255

Institutional Source

Beutler Lab

Gene Symbol

Nell2

Ensembl Gene

ENSMUSG00000022454

Gene Name

NEL-like 2

Synonyms

A330108N19Rik, mel91

MMRRC Submission

044988-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6894 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95117321-95426677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95244768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 443 (D443G)

Ref Sequence

ENSEMBL: ENSMUSP00000131665 (fasta)

Gene Model

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

AlphaFold

Q61220

Predicted Effect

probably damaging
Transcript: ENSMUST00000075275
AA Change: D443G

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

SMART Domains

Protein: ENSMUSP00000074751
Gene: ENSMUSG00000022454
AA Change: D443G

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: D443G

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

SMART Domains

Protein: ENSMUSP00000131665
Gene: ENSMUSG00000022454
AA Change: D443G

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: D443G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229981
AA Change: D443G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	C	A	2: 151,315,227 (GRCm39)	L150F	probably damaging	Het
4930449I24Rik	G	A	5: 146,441,542 (GRCm39)	E230K	possibly damaging	Het
4930449I24Rik	A	T	5: 146,441,543 (GRCm39)	E230V	probably benign	Het
9430038I01Rik	A	G	7: 136,989,117 (GRCm39)	C93R	possibly damaging	Het
Aoc1l2	G	A	6: 48,907,596 (GRCm39)	A199T	probably damaging	Het
Apobec1	T	C	6: 122,568,201 (GRCm39)		probably benign	Het
Arl4c	T	A	1: 88,629,097 (GRCm39)	D97V	probably damaging	Het
Ash1l	A	G	3: 88,890,298 (GRCm39)	T726A	probably benign	Het
Asz1	A	C	6: 18,055,520 (GRCm39)	F359V	probably damaging	Het
Atr	T	A	9: 95,809,250 (GRCm39)	L1970H	probably damaging	Het
Baz2a	G	T	10: 127,959,450 (GRCm39)	A1322S	possibly damaging	Het
Cd209e	T	A	8: 3,903,569 (GRCm39)	I37F	possibly damaging	Het
Cd209f	T	C	8: 4,155,477 (GRCm39)	K37R	probably benign	Het
Cd5	G	C	19: 10,716,203 (GRCm39)	S3C	possibly damaging	Het
Clec16a	A	T	16: 10,462,718 (GRCm39)	I260F	probably damaging	Het
Cltc	A	T	11: 86,603,428 (GRCm39)	Y799*	probably null	Het
Cplane1	T	C	15: 8,216,852 (GRCm39)	L690P	probably damaging	Het
Csde1	G	A	3: 102,951,972 (GRCm39)	V258I	possibly damaging	Het
Dennd5a	G	T	7: 109,500,325 (GRCm39)	H909Q	probably damaging	Het
Dnah12	A	G	14: 26,456,904 (GRCm39)	D890G	probably damaging	Het
Dnah2	A	T	11: 69,375,086 (GRCm39)	M1379K	probably benign	Het
Dpp10	A	T	1: 123,264,593 (GRCm39)	I743N	probably damaging	Het
Dpp9	T	A	17: 56,495,321 (GRCm39)	T815S	probably damaging	Het
Ears2	T	C	7: 121,647,447 (GRCm39)	N279S	probably damaging	Het
Ect2l	A	G	10: 18,045,128 (GRCm39)		probably null	Het
Eomes	C	G	9: 118,310,353 (GRCm39)	P288A	probably damaging	Het
Fat3	T	C	9: 15,909,072 (GRCm39)	D2310G	probably damaging	Het
Fignl2	T	C	15: 100,951,854 (GRCm39)	T143A	probably benign	Het
Gdf9	A	G	11: 53,327,646 (GRCm39)	K201E	possibly damaging	Het
Gfra3	C	T	18: 34,828,710 (GRCm39)	R228Q	probably damaging	Het
Grin1	A	T	2: 25,185,829 (GRCm39)	V876E	probably damaging	Het
Igkv12-41	A	C	6: 69,835,635 (GRCm39)	V39G	probably damaging	Het
Kat7	A	T	11: 95,174,910 (GRCm39)	M367K	possibly damaging	Het
Ly6d	T	C	15: 74,634,654 (GRCm39)	K33E	possibly damaging	Het
Lztfl1	T	C	9: 123,529,998 (GRCm39)	N273S	possibly damaging	Het
Macf1	T	A	4: 123,377,480 (GRCm39)	I1485F	possibly damaging	Het
Marchf10	G	T	11: 105,287,787 (GRCm39)	L172I	possibly damaging	Het
Mdn1	T	G	4: 32,748,614 (GRCm39)	S4220A	possibly damaging	Het
Muc16	A	G	9: 18,406,872 (GRCm39)	V8460A	possibly damaging	Het
Myh14	A	G	7: 44,282,936 (GRCm39)	F769L	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk4	A	G	13: 32,905,998 (GRCm39)	L395P	probably damaging	Het
Nat8f6	A	T	6: 85,785,504 (GRCm39)	L215*	probably null	Het
Nkx6-3	A	G	8: 23,647,632 (GRCm39)	K197R	probably benign	Het
Nt5c3	A	T	6: 56,859,958 (GRCm39)	L293*	probably null	Het
Ntrk1	A	T	3: 87,690,109 (GRCm39)	V429D	probably damaging	Het
Obscn	A	G	11: 59,023,508 (GRCm39)	V623A	probably benign	Het
Or2o1	T	C	11: 49,051,186 (GRCm39)	F115S	probably benign	Het
Or4c1	A	G	2: 89,133,837 (GRCm39)	L33S	probably damaging	Het
Or5ac21	A	G	16: 59,124,142 (GRCm39)	T209A	probably damaging	Het
Or5p5	C	T	7: 107,414,271 (GRCm39)	T160I	probably benign	Het
Or6c74	T	C	10: 129,870,178 (GRCm39)	S228P	probably damaging	Het
Or8k22	A	T	2: 86,163,295 (GRCm39)	I135N	probably damaging	Het
Pate3	T	A	9: 35,557,969 (GRCm39)	D33V	probably damaging	Het
Pcnx1	T	A	12: 82,034,747 (GRCm39)	I1843N	probably damaging	Het
Pla2g4f	A	T	2: 120,134,077 (GRCm39)	I503N	probably benign	Het
Prkg1	C	A	19: 30,602,174 (GRCm39)	E361*	probably null	Het
Proca1	A	G	11: 78,085,613 (GRCm39)		probably benign	Het
Prss38	G	T	11: 59,263,850 (GRCm39)	H287Q	probably benign	Het
Ptpdc1	T	C	13: 48,744,114 (GRCm39)	E169G	probably benign	Het
Ptpn21	T	C	12: 98,681,440 (GRCm39)	S65G	probably damaging	Het
Rfx6	A	T	10: 51,592,135 (GRCm39)	H177L	probably damaging	Het
Slc20a2	G	A	8: 23,050,609 (GRCm39)	G276D	possibly damaging	Het
Spag6l	A	T	16: 16,601,802 (GRCm39)	L159I	probably damaging	Het
Spata31f1a	G	A	4: 42,850,291 (GRCm39)	P622S	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Stk33	T	A	7: 108,935,269 (GRCm39)	E174D	possibly damaging	Het
Stxbp5	A	T	10: 9,660,105 (GRCm39)	V730E	probably benign	Het
Tmprss15	A	T	16: 78,872,702 (GRCm39)	L168*	probably null	Het
Tnrc18	A	T	5: 142,745,804 (GRCm39)	M1323K	unknown	Het
Tpr	T	C	1: 150,312,598 (GRCm39)	V1932A	probably benign	Het
Trak2	A	G	1: 58,950,892 (GRCm39)	S432P	probably damaging	Het
Ttn	A	T	2: 76,738,534 (GRCm39)	F4002I	probably benign	Het
Txndc11	G	A	16: 10,906,009 (GRCm39)	T507I	probably damaging	Het
Usp12	G	A	5: 146,691,349 (GRCm39)	T135I	possibly damaging	Het
Vit	T	A	17: 78,934,187 (GRCm39)	Y596*	probably null	Het
Vmn1r32	A	T	6: 66,530,345 (GRCm39)	Y144N	possibly damaging	Het
Vmn2r80	G	T	10: 79,005,438 (GRCm39)	L358F	probably benign	Het
Zfp382	T	G	7: 29,825,261 (GRCm39)	S38A	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
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
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'- GAAAAGTTTATGACCCACTTCTCAG -3'
(R):5'- ACTGTGGCAAGGAACTGTTC -3'

Sequencing Primer
(F):5'- ATGACCCACTTCTCAGAATTTTAAG -3'
(R):5'- GAACTGTTCATAAAAGGTACACATGC -3'

Posted On

2018-11-06