Mutagenetix > Incidental Mutation

Incidental Mutation 'R4433:Neto2'

328702

Institutional Source

Beutler Lab

Gene Symbol

Neto2

Ensembl Gene

ENSMUSG00000036902

Gene Name

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

Synonyms

MMRRC Submission

041147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R4433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85636588-85700924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85641083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 337 (T337I)

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: T372I

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

SMART Domains

Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: T372I

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: T337I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215046

Predicted Effect

probably damaging
Transcript: ENSMUST00000216286
AA Change: T344I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.1486

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,368,187		probably null	Het
Acsm2	A	G	7: 119,554,509	H14R	unknown	Het
Adamtsl4	T	C	3: 95,681,759		probably null	Het
Ak5	A	G	3: 152,655,880	I135T	probably damaging	Het
Alk	G	T	17: 71,899,241	S1038*	probably null	Het
Ank2	A	T	3: 126,947,806		probably benign	Het
Ap2m1	A	T	16: 20,543,384	H414L	possibly damaging	Het
Atp13a5	A	T	16: 29,282,024	M649K	probably damaging	Het
Atp4a	G	A	7: 30,720,225	R671Q	probably benign	Het
Cdc25b	A	G	2: 131,191,698	S186G	probably benign	Het
Ceacam16	A	G	7: 19,853,589	V418A	possibly damaging	Het
Cntnap3	A	C	13: 64,778,853	S568A	possibly damaging	Het
Col24a1	G	T	3: 145,314,383	V172F	possibly damaging	Het
E430018J23Rik	T	G	7: 127,393,002	Q87P	possibly damaging	Het
Eef2	CCC	CCCC	10: 81,178,768		probably null	Het
Esp36	T	A	17: 38,418,956	T15S	unknown	Het
Fam126a	A	C	5: 23,979,581	C218G	possibly damaging	Het
Fam26f	T	A	10: 34,127,831	T27S	probably damaging	Het
Fat2	A	T	11: 55,309,640	H869Q	possibly damaging	Het
Fat3	A	G	9: 16,031,152	V1308A	probably damaging	Het
Gimap3	T	C	6: 48,765,946	T17A	possibly damaging	Het
Hnrnpr	A	G	4: 136,317,148	K13R	probably benign	Het
Kdr	A	G	5: 75,943,925	M1133T	possibly damaging	Het
Mgarp	A	G	3: 51,396,260		probably benign	Het
Nfib	C	T	4: 82,498,435	R137Q	probably damaging	Het
Nr3c2	A	G	8: 77,217,467	E890G	probably damaging	Het
Nsun4	A	G	4: 116,040,130	V228A	possibly damaging	Het
Nt5c1a	T	A	4: 123,215,896	S263T	probably benign	Het
Ntm	A	T	9: 29,012,220	Y45*	probably null	Het
Nts	A	G	10: 102,485,027	V67A	probably benign	Het
Olfr1288	T	A	2: 111,479,412	C209*	probably null	Het
Olfr378	A	T	11: 73,425,711	S91T	possibly damaging	Het
Olfr384	A	G	11: 73,602,886	Y102C	probably damaging	Het
Olfr610	T	A	7: 103,506,139	K269M	probably benign	Het
Ostm1	C	A	10: 42,679,123	A47E	probably benign	Het
Otol1	G	A	3: 70,018,548	V19M	probably benign	Het
Pcdhb15	A	G	18: 37,475,512	N599S	probably damaging	Het
Pcdhgb1	T	C	18: 37,681,251	I265T	probably damaging	Het
Pdzd3	T	C	9: 44,247,988	*499W	probably null	Het
Pex14	T	C	4: 148,961,510	E321G	possibly damaging	Het
Phactr3	C	A	2: 178,283,132	R251S	probably damaging	Het
Pkdcc	C	T	17: 83,221,141	T313M	probably benign	Het
Plce1	A	T	19: 38,767,301	E1911V	probably damaging	Het
Ptprv	G	T	1: 135,114,570		noncoding transcript	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rhob	A	G	12: 8,499,533	Y34H	possibly damaging	Het
Slc27a3	G	A	3: 90,387,340	T408M	probably damaging	Het
Slc9c1	A	T	16: 45,599,466	I1000F	possibly damaging	Het
Tcf7	G	T	11: 52,261,615	P36T	probably benign	Het
Tcf7l1	C	G	6: 72,788,769	E62Q	probably damaging	Het
Tctex1d4	C	T	4: 117,128,123	R48C	probably damaging	Het
Tll2	A	G	19: 41,121,348	S326P	probably benign	Het
Tubgcp4	A	G	2: 121,184,473	N288S	probably benign	Het
Zfhx3	G	A	8: 108,955,637	R3236H	unknown	Het
Zgrf1	A	G	3: 127,562,078	T318A	probably benign	Het

Other mutations in Neto2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Neto2	APN	8	85641003	missense	probably damaging	1.00
IGL01938:Neto2	APN	8	85690855	missense	probably benign	0.00
IGL02238:Neto2	APN	8	85669663	missense	probably damaging	0.99
IGL02605:Neto2	APN	8	85663435	splice site	probably benign
IGL02813:Neto2	APN	8	85690886	missense	probably benign
R0138:Neto2	UTSW	8	85641044	missense	possibly damaging	0.72
R1934:Neto2	UTSW	8	85670404	missense	possibly damaging	0.96
R2402:Neto2	UTSW	8	85690912	missense	probably benign	0.00
R2423:Neto2	UTSW	8	85669767	missense	probably damaging	1.00
R3821:Neto2	UTSW	8	85663295	nonsense	probably null
R3822:Neto2	UTSW	8	85663295	nonsense	probably null
R3883:Neto2	UTSW	8	85663265	missense	probably damaging	1.00
R3939:Neto2	UTSW	8	85674118	missense	probably damaging	0.99
R3940:Neto2	UTSW	8	85674118	missense	probably damaging	0.99
R3941:Neto2	UTSW	8	85674118	missense	probably damaging	0.99
R4668:Neto2	UTSW	8	85641062	missense	probably damaging	1.00
R4675:Neto2	UTSW	8	85669704	missense	probably damaging	1.00
R4908:Neto2	UTSW	8	85669764	missense	probably damaging	0.99
R5459:Neto2	UTSW	8	85670483	missense	probably benign	0.35
R5471:Neto2	UTSW	8	85640760	missense	probably benign	0.41
R5544:Neto2	UTSW	8	85647877	missense	possibly damaging	0.94
R5571:Neto2	UTSW	8	85640544	missense	probably damaging	1.00
R6083:Neto2	UTSW	8	85640585	missense	probably benign	0.00
R6339:Neto2	UTSW	8	85640558	missense	probably benign	0.33
R6381:Neto2	UTSW	8	85642509	missense	probably damaging	0.99
R6572:Neto2	UTSW	8	85670404	missense	possibly damaging	0.96
R6593:Neto2	UTSW	8	85669546	missense	probably damaging	1.00
R6662:Neto2	UTSW	8	85663215	missense	probably damaging	1.00
R6881:Neto2	UTSW	8	85640556	missense	probably damaging	1.00
R6950:Neto2	UTSW	8	85670443	missense	probably damaging	1.00
R7121:Neto2	UTSW	8	85670391	splice site	probably null
R7754:Neto2	UTSW	8	85669700	missense	probably damaging	0.98
R7755:Neto2	UTSW	8	85669656	missense	probably damaging	1.00
R8682:Neto2	UTSW	8	85640666	missense	probably benign	0.01
R9326:Neto2	UTSW	8	85642434	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCCAGATCTGCAGAAATCTC -3'
(R):5'- GTTACTTGACTCAGAAATCATGGG -3'

Sequencing Primer
(F):5'- GCCAGATCTGCAGAAATCTCTTTCTC -3'
(R):5'- AAAACCAGGTTTTTAGGGTCTGG -3'

Posted On

2015-07-21