Mutagenetix > Incidental Mutations

Incidental Mutation 'R7754:Neto2'

597446

Institutional Source

Beutler Lab

Gene Symbol

Neto2

Ensembl Gene

ENSMUSG00000036902

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R7754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85636588-85700924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 85669700 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 140 (L140F)

Ref Sequence

ENSEMBL: ENSMUSP00000105308 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109686
AA Change: L140F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: L140F

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

probably damaging
Transcript: ENSMUST00000209479
AA Change: L105F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216286
AA Change: L105F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	T	2: 91,304,843		probably null	Het
2410089E03Rik	C	A	15: 8,243,826	Q2534K	possibly damaging	Het
4930553M12Rik	A	T	4: 88,868,259	W41R	unknown	Het
Aatf	G	A	11: 84,511,509	S117L	possibly damaging	Het
Abca12	C	A	1: 71,302,887	V972L	probably benign	Het
Abcb11	T	A	2: 69,286,818	R495S	probably damaging	Het
Acss2	T	A	2: 155,561,166	H621Q	probably benign	Het
Akap9	T	C	5: 4,046,736	L2537P	probably benign	Het
Apbb1	C	T	7: 105,559,302	A597T	probably damaging	Het
Cacna1d	A	T	14: 30,075,852	I1448N	probably damaging	Het
Cacna1e	C	T	1: 154,413,117	E1841K	probably damaging	Het
Ccdc162	G	T	10: 41,587,375	P1457Q	probably damaging	Het
Cep70	A	G	9: 99,281,092	K331E	probably damaging	Het
D430041D05Rik	A	T	2: 104,257,159	Y491N	probably benign	Het
Dnah6	T	C	6: 73,025,720	I3898V	probably benign	Het
Drd2	A	G	9: 49,404,977	T346A	probably benign	Het
Efcab9	T	C	11: 32,522,941	T169A	possibly damaging	Het
Fam163a	A	T	1: 156,079,983	I21N	probably damaging	Het
Fam171a2	C	T	11: 102,438,563	D457N	probably benign	Het
Fbn1	A	T	2: 125,479,280		probably null	Het
Gpr37	A	T	6: 25,689,050	L16H	probably damaging	Het
Gtf3c2	T	C	5: 31,172,831	D265G	probably benign	Het
Idh1	G	T	1: 65,159,490	A407D	probably benign	Het
Ifna12	A	G	4: 88,603,178	M44T	probably damaging	Het
Il22ra1	A	G	4: 135,734,250	M109V	probably benign	Het
Jag2	A	T	12: 112,915,469		probably null	Het
Lca5l	T	C	16: 96,159,561	D572G	unknown	Het
Lcn11	G	A	2: 25,777,818	V73I	probably benign	Het
Lrba	A	G	3: 86,445,397	T1951A	probably damaging	Het
Ltbp2	A	G	12: 84,813,238		probably null	Het
Malrd1	G	A	2: 15,797,799		probably null	Het
Morc2b	C	A	17: 33,137,244	G518V	probably benign	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Myo5b	A	T	18: 74,634,559	T313S	probably benign	Het
Nlgn1	C	T	3: 25,434,303	V623I	probably damaging	Het
Olfr364-ps1	A	G	2: 37,146,846	I211M	possibly damaging	Het
Olfr371	T	A	8: 85,230,798	M101K	possibly damaging	Het
Olfr384	C	T	11: 73,603,506	Q309*	probably null	Het
Olfr603	C	A	7: 103,383,738	W88L	probably damaging	Het
Olfr825	T	G	10: 130,162,829	T166P	probably damaging	Het
Optc	A	G	1: 133,906,992	S15P	possibly damaging	Het
Otogl	A	G	10: 107,869,546	V640A	probably damaging	Het
Pcdhgb2	T	C	18: 37,689,970	S5P	probably benign	Het
Pde3a	A	T	6: 141,459,249	E400V	probably benign	Het
Pkhd1l1	A	G	15: 44,586,408	I3856V	possibly damaging	Het
Pld2	G	A	11: 70,552,869		probably null	Het
Plxna4	G	T	6: 32,152,872	H1839N	probably damaging	Het
Ppp6r2	T	C	15: 89,256,701	V89A	probably benign	Het
Rapgef3	T	C	15: 97,757,746	D420G	probably damaging	Het
Rnf17	T	A	14: 56,462,072		probably null	Het
Rps6ka2	T	A	17: 7,277,449		probably null	Het
Rptn	A	T	3: 93,395,921	D187V	probably damaging	Het
Rtn1	T	C	12: 72,308,429	K248E	probably damaging	Het
Rtn4rl1	A	T	11: 75,265,045	H101L	probably benign	Het
Sept3	A	G	15: 82,290,773	N305S	probably benign	Het
Serpina3f	G	T	12: 104,217,306	K142N	possibly damaging	Het
Ssh1	C	A	5: 113,966,234	R116L	probably benign	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tlr6	T	C	5: 64,954,350	K405E	possibly damaging	Het
Trbv13-2	G	A	6: 41,121,700	A70T	probably benign	Het
Ttn	A	T	2: 76,788,196	I16248N	probably damaging	Het
Ttn	A	T	2: 76,825,505		probably null	Het
Vldlr	A	T	19: 27,217,615	M1L	probably benign	Het
Wscd1	A	G	11: 71,784,365	H366R	probably damaging	Het
Zbtb8a	A	G	4: 129,357,703		probably null	Het
Zfp827	T	C	8: 79,190,329	V511A		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
R4433:Neto2	UTSW	8	85641083	missense	probably damaging	1.00
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
R7755:Neto2	UTSW	8	85669656	missense	probably damaging	1.00
R8682:Neto2	UTSW	8	85640666	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGACACTTAATTTGTTACCTGGGATG -3'
(R):5'- CACAGGGAGATGTTACTGTAATTC -3'

Sequencing Primer
(F):5'- ACCTGGGATGAATGAGTATTTTGCTC -3'
(R):5'- AGTTAGTTCCCAGTGTAATTCTCTG -3'

Posted On

2019-11-26