Mutagenetix > Incidental Mutation

Incidental Mutation 'R6381:Neto2'

515321

Institutional Source

Beutler Lab

Gene Symbol

Neto2

Ensembl Gene

ENSMUSG00000036902

Gene Name

neuropilin (NRP) and tolloid (TLL)-like 2

Synonyms

5530601C23Rik

MMRRC Submission

044530-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R6381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86363217-86427553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86369138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 294 (T294A)

Ref Sequence

ENSEMBL: ENSMUSP00000148172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109686] [ENSMUST00000209479] [ENSMUST00000216286]

AlphaFold

Q8BNJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000109686
AA Change: T329A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: T329A

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
CUB	80	194	2.56e-40	SMART
CUB	205	320	9.11e-5	SMART
LDLa	324	361	5.73e-5	SMART
transmembrane domain	374	396	N/A	INTRINSIC
coiled coil region	432	460	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209259

Predicted Effect

probably damaging
Transcript: ENSMUST00000209479
AA Change: T294A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215046

Predicted Effect

probably benign
Transcript: ENSMUST00000216286
AA Change: T301A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.1395

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null mutation show normal brain morphology and kainate receptor mediated excitatory postsynaptic currents. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,788 (GRCm39)	M365L	probably damaging	Het
Aars2	A	G	17: 45,829,471 (GRCm39)	E786G	probably benign	Het
Adamts12	G	T	15: 11,257,080 (GRCm39)	V478F	possibly damaging	Het
Akr1c21	T	A	13: 4,624,183 (GRCm39)	D12E	probably damaging	Het
Aplf	A	T	6: 87,635,959 (GRCm39)	M118K	probably damaging	Het
Apobec1	A	G	6: 122,555,890 (GRCm39)	L189P	probably damaging	Het
BC061237	A	G	14: 44,741,713 (GRCm39)	Q152R	possibly damaging	Het
Bche	A	G	3: 73,609,132 (GRCm39)	I98T	probably benign	Het
Cc2d2a	G	T	5: 43,873,118 (GRCm39)	R983L	possibly damaging	Het
Ccnd3	T	C	17: 47,816,149 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,944,435 (GRCm39)	C215F	probably damaging	Het
Cep97	C	T	16: 55,742,534 (GRCm39)	A138T	probably damaging	Het
Ces1e	T	A	8: 93,944,206 (GRCm39)	N204I	probably damaging	Het
Dicer1	T	C	12: 104,662,721 (GRCm39)	D1620G	probably benign	Het
Dnah17	A	G	11: 118,020,011 (GRCm39)	V12A	probably benign	Het
Dstyk	T	A	1: 132,384,503 (GRCm39)		probably null	Het
Elapor1	T	C	3: 108,389,130 (GRCm39)	K222E	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Entr1	A	G	2: 26,275,093 (GRCm39)		probably null	Het
Gm10570	G	T	4: 130,202,021 (GRCm39)		probably benign	Het
Gm7145	C	T	1: 117,913,669 (GRCm39)	Q184*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gtse1	G	A	15: 85,746,349 (GRCm39)	R55H	probably benign	Het
Hdac4	G	T	1: 91,912,247 (GRCm39)	Q381K	possibly damaging	Het
Ifit3b	T	C	19: 34,589,871 (GRCm39)	I349T	probably benign	Het
Inpp5a	A	T	7: 138,980,589 (GRCm39)	D9V	probably benign	Het
Irs1	T	C	1: 82,265,405 (GRCm39)	N937S	possibly damaging	Het
Kcna4	T	C	2: 107,125,317 (GRCm39)	M17T	probably benign	Het
Lipa	T	A	19: 34,502,146 (GRCm39)	M33L	probably benign	Het
Marchf6	G	T	15: 31,467,838 (GRCm39)	Q790K	probably benign	Het
Mccc1	G	A	3: 36,030,876 (GRCm39)	P397S	probably benign	Het
Mrgprb2	T	C	7: 48,202,138 (GRCm39)	I196V	probably benign	Het
Myh15	T	A	16: 48,921,844 (GRCm39)	S463R	probably damaging	Het
Nab2	T	C	10: 127,500,220 (GRCm39)	K291E	probably damaging	Het
Nkx1-1	T	C	5: 33,591,320 (GRCm39)	M1V	probably null	Het
Or2h2	C	T	17: 37,396,977 (GRCm39)	V27I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Psmd2	A	G	16: 20,474,023 (GRCm39)	E242G	probably benign	Het
Rnase12	A	C	14: 51,294,551 (GRCm39)	Y43D	probably damaging	Het
Rpl18	T	A	7: 45,369,016 (GRCm39)	F58I	probably damaging	Het
Ryr1	T	G	7: 28,774,682 (GRCm39)	M2313L	possibly damaging	Het
Scn4a	G	T	11: 106,211,137 (GRCm39)	Q1627K	probably damaging	Het
Scnn1g	A	G	7: 121,366,722 (GRCm39)	S640G	probably benign	Het
Sdr9c7	T	A	10: 127,739,542 (GRCm39)	M219K	probably benign	Het
Soat1	A	T	1: 156,263,373 (GRCm39)	M392K	probably damaging	Het
Spata18	G	T	5: 73,832,559 (GRCm39)	K337N	probably damaging	Het
Supt16	A	G	14: 52,417,003 (GRCm39)	V325A	probably benign	Het
Syt2	A	G	1: 134,674,588 (GRCm39)	E342G	probably damaging	Het
Tars2	A	T	3: 95,661,799 (GRCm39)	L37*	probably null	Het
Tep1	T	C	14: 51,082,888 (GRCm39)	D1040G	probably damaging	Het
Tmc8	A	T	11: 117,682,426 (GRCm39)	S613C	probably null	Het
Top3a	C	T	11: 60,634,849 (GRCm39)	C660Y	probably damaging	Het
Tpsg1	C	T	17: 25,591,543 (GRCm39)	R48C	probably damaging	Het
Vmn2r57	T	C	7: 41,078,242 (GRCm39)	N72S	probably benign	Het
Whrn	G	A	4: 63,390,921 (GRCm39)	T269I	probably benign	Het
Zfp759	T	A	13: 67,286,969 (GRCm39)	Y173*	probably null	Het

Other mutations in Neto2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Neto2	APN	8	86,367,632 (GRCm39)	missense	probably damaging	1.00
IGL01938:Neto2	APN	8	86,417,484 (GRCm39)	missense	probably benign	0.00
IGL02238:Neto2	APN	8	86,396,292 (GRCm39)	missense	probably damaging	0.99
IGL02605:Neto2	APN	8	86,390,064 (GRCm39)	splice site	probably benign
IGL02813:Neto2	APN	8	86,417,515 (GRCm39)	missense	probably benign
R0138:Neto2	UTSW	8	86,367,673 (GRCm39)	missense	possibly damaging	0.72
R1934:Neto2	UTSW	8	86,397,033 (GRCm39)	missense	possibly damaging	0.96
R2402:Neto2	UTSW	8	86,417,541 (GRCm39)	missense	probably benign	0.00
R2423:Neto2	UTSW	8	86,396,396 (GRCm39)	missense	probably damaging	1.00
R3821:Neto2	UTSW	8	86,389,924 (GRCm39)	nonsense	probably null
R3822:Neto2	UTSW	8	86,389,924 (GRCm39)	nonsense	probably null
R3883:Neto2	UTSW	8	86,389,894 (GRCm39)	missense	probably damaging	1.00
R3939:Neto2	UTSW	8	86,400,747 (GRCm39)	missense	probably damaging	0.99
R3940:Neto2	UTSW	8	86,400,747 (GRCm39)	missense	probably damaging	0.99
R3941:Neto2	UTSW	8	86,400,747 (GRCm39)	missense	probably damaging	0.99
R4433:Neto2	UTSW	8	86,367,712 (GRCm39)	missense	probably damaging	1.00
R4668:Neto2	UTSW	8	86,367,691 (GRCm39)	missense	probably damaging	1.00
R4675:Neto2	UTSW	8	86,396,333 (GRCm39)	missense	probably damaging	1.00
R4908:Neto2	UTSW	8	86,396,393 (GRCm39)	missense	probably damaging	0.99
R5459:Neto2	UTSW	8	86,397,112 (GRCm39)	missense	probably benign	0.35
R5471:Neto2	UTSW	8	86,367,389 (GRCm39)	missense	probably benign	0.41
R5544:Neto2	UTSW	8	86,374,506 (GRCm39)	missense	possibly damaging	0.94
R5571:Neto2	UTSW	8	86,367,173 (GRCm39)	missense	probably damaging	1.00
R6083:Neto2	UTSW	8	86,367,214 (GRCm39)	missense	probably benign	0.00
R6339:Neto2	UTSW	8	86,367,187 (GRCm39)	missense	probably benign	0.33
R6572:Neto2	UTSW	8	86,397,033 (GRCm39)	missense	possibly damaging	0.96
R6593:Neto2	UTSW	8	86,396,175 (GRCm39)	missense	probably damaging	1.00
R6662:Neto2	UTSW	8	86,389,844 (GRCm39)	missense	probably damaging	1.00
R6881:Neto2	UTSW	8	86,367,185 (GRCm39)	missense	probably damaging	1.00
R6950:Neto2	UTSW	8	86,397,072 (GRCm39)	missense	probably damaging	1.00
R7121:Neto2	UTSW	8	86,397,020 (GRCm39)	splice site	probably null
R7754:Neto2	UTSW	8	86,396,329 (GRCm39)	missense	probably damaging	0.98
R7755:Neto2	UTSW	8	86,396,285 (GRCm39)	missense	probably damaging	1.00
R8682:Neto2	UTSW	8	86,367,295 (GRCm39)	missense	probably benign	0.01
R9326:Neto2	UTSW	8	86,369,063 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAGAGCACTATGGTAGGC -3'
(R):5'- CATTGCAGAAACACACTGAAGG -3'

Sequencing Primer
(F):5'- TAGAGCACTATGGTAGGCACACC -3'
(R):5'- GAACCTGTAATGTCAACTCTTGGGAG -3'

Posted On

2018-05-04