Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02043:Nptn'

184832

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nptn

Ensembl Gene

ENSMUSG00000032336

Gene Name

neuroplastin

Synonyms

Sdfr1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02043

Quality Score

Status

Chromosome

Chromosomal Location

58489504-58560162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 58548012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 139 (M139R)

Ref Sequence

ENSEMBL: ENSMUSP00000109756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085651] [ENSMUST00000114121] [ENSMUST00000175945] [ENSMUST00000176250] [ENSMUST00000176557] [ENSMUST00000177292] [ENSMUST00000177064] [ENSMUST00000176916] [ENSMUST00000177380]

AlphaFold

P97300

Predicted Effect

probably benign
Transcript: ENSMUST00000085651
AA Change: M139R

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000082793
Gene: ENSMUSG00000032336
AA Change: M139R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	38	118	1.1e-3	SMART
IGc2	133	206	9.3e-7	SMART
transmembrane domain	221	243	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114121
AA Change: M139R

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109756
Gene: ENSMUSG00000032336
AA Change: M139R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	38	118	2.56e-1	SMART
IGc2	133	206	2.34e-4	SMART
transmembrane domain	221	243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175945

SMART Domains

Protein: ENSMUSP00000135576
Gene: ENSMUSG00000032336

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176126

Predicted Effect

probably benign
Transcript: ENSMUST00000176250
AA Change: M29R

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135250
Gene: ENSMUSG00000032336
AA Change: M29R

Domain	Start	End	E-Value	Type
IGc2	23	96	2.34e-4	SMART
transmembrane domain	111	133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176557
AA Change: M139R

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135541
Gene: ENSMUSG00000032336
AA Change: M139R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	38	118	2.56e-1	SMART
IGc2	133	206	2.34e-4	SMART
transmembrane domain	221	243	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000176896
AA Change: M137R

SMART Domains

Protein: ENSMUSP00000134761
Gene: ENSMUSG00000032336
AA Change: M137R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
IG	37	117	2.56e-1	SMART
IGc2	132	205	2.34e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177292
AA Change: M255R

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135199
Gene: ENSMUSG00000032336
AA Change: M255R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGc2	43	123	4.09e-9	SMART
IG	154	234	2.56e-1	SMART
IGc2	249	322	2.34e-4	SMART
transmembrane domain	337	359	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177064
AA Change: M51R

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135316
Gene: ENSMUSG00000032336
AA Change: M51R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGc2	45	118	2.34e-4	SMART
transmembrane domain	133	155	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176916
AA Change: M29R

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134977
Gene: ENSMUSG00000032336
AA Change: M29R

Domain	Start	End	E-Value	Type
IGc2	23	96	2.34e-4	SMART
transmembrane domain	111	133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177380

SMART Domains

Protein: ENSMUSP00000135886
Gene: ENSMUSG00000032336

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	38	118	2.56e-1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal dendritic spine morphology, decreased CNS synapse formation, abnormal CNS synaptic transmission and impaired hearing. [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
Atp1b2	T	C	11: 69,496,102 (GRCm39)	T33A	probably benign	Het
Brd2	A	T	17: 34,331,590 (GRCm39)		probably benign	Het
Carmil1	T	C	13: 24,208,299 (GRCm39)		probably benign	Het
Cdh9	A	T	15: 16,856,318 (GRCm39)	D786V	probably damaging	Het
Cep128	A	C	12: 91,233,504 (GRCm39)		probably benign	Het
Cep85	T	C	4: 133,883,038 (GRCm39)	T284A	probably benign	Het
Chrna1	C	T	2: 73,398,450 (GRCm39)	E330K	probably benign	Het
Clec2l	T	C	6: 38,653,785 (GRCm39)	Y104H	probably damaging	Het
Clybl	G	T	14: 122,616,664 (GRCm39)	K226N	probably damaging	Het
Cmip	T	A	8: 118,172,067 (GRCm39)	D467E	probably benign	Het
Cpne3	A	T	4: 19,543,340 (GRCm39)		probably null	Het
Crisp4	A	G	1: 18,204,324 (GRCm39)	V46A	probably damaging	Het
Csnk2a1	T	C	2: 152,116,070 (GRCm39)	Y261H	probably damaging	Het
Cul5	C	A	9: 53,569,973 (GRCm39)	G86V	probably benign	Het
Czib	T	G	4: 107,752,065 (GRCm39)		probably benign	Het
Depdc7	T	C	2: 104,560,626 (GRCm39)	T123A	probably benign	Het
Edem2	T	C	2: 155,547,661 (GRCm39)	T384A	probably damaging	Het
F8	C	T	X: 74,376,247 (GRCm39)	M377I	probably benign	Het
Fan1	T	A	7: 64,021,367 (GRCm39)		probably null	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Gm4841	A	C	18: 60,404,037 (GRCm39)	S19A	probably benign	Het
Gm4862	T	A	3: 138,834,396 (GRCm39)		noncoding transcript	Het
Hk3	T	A	13: 55,162,908 (GRCm39)	Q44L	probably damaging	Het
Irgm1	C	A	11: 48,757,642 (GRCm39)	L56F	probably damaging	Het
Ldlr	A	G	9: 21,644,795 (GRCm39)	T108A	probably benign	Het
Lgr4	T	A	2: 109,841,635 (GRCm39)	M516K	probably damaging	Het
Lrp1b	T	C	2: 40,587,537 (GRCm39)	N3906S	probably null	Het
Lrrtm4	A	G	6: 79,998,845 (GRCm39)	N86D	possibly damaging	Het
Map3k2	A	G	18: 32,340,587 (GRCm39)	D198G	probably damaging	Het
Mapkapk3	C	T	9: 107,139,621 (GRCm39)		probably null	Het
Mvp	A	T	7: 126,592,790 (GRCm39)	Y374N	probably damaging	Het
Myo3a	T	C	2: 22,404,776 (GRCm39)	S711P	probably benign	Het
Myom3	A	G	4: 135,497,986 (GRCm39)	K189E	probably damaging	Het
Naip1	T	A	13: 100,563,304 (GRCm39)	K620N	probably benign	Het
Nlrp10	T	C	7: 108,524,709 (GRCm39)	E257G	probably damaging	Het
Nrk	T	G	X: 137,889,544 (GRCm39)	M1105R	possibly damaging	Het
Or10a3n	A	T	7: 108,493,046 (GRCm39)	C189*	probably null	Het
Or10d4	T	G	9: 39,580,374 (GRCm39)	V7G	probably damaging	Het
Or1q1	T	A	2: 36,887,477 (GRCm39)	Y218*	probably null	Het
Pcdhb16	A	G	18: 37,612,248 (GRCm39)	T403A	probably benign	Het
Pcyt1b	A	G	X: 92,745,722 (GRCm39)	E50G	possibly damaging	Het
Pigg	C	T	5: 108,492,190 (GRCm39)	T892I	probably damaging	Het
Ppig	T	G	2: 69,566,327 (GRCm39)		probably null	Het
Prr12	A	G	7: 44,699,429 (GRCm39)		probably benign	Het
Slc5a5	G	T	8: 71,345,073 (GRCm39)	A78E	possibly damaging	Het
Slc7a2	T	G	8: 41,364,095 (GRCm39)	M436R	probably benign	Het
Sp7	T	A	15: 102,267,690 (GRCm39)	M39L	probably benign	Het
Spag8	T	A	4: 43,653,134 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,068,556 (GRCm39)	S3077P	probably benign	Het
Tmem30a	A	T	9: 79,681,371 (GRCm39)		probably benign	Het
Tmem63a	C	T	1: 180,800,353 (GRCm39)	T714I	probably benign	Het
Trank1	T	C	9: 111,193,028 (GRCm39)	L535P	probably damaging	Het
Tuba8	A	C	6: 121,197,470 (GRCm39)	N44T	probably benign	Het
Wnk1	A	G	6: 119,926,039 (GRCm39)		probably benign	Het
Zfp654	A	T	16: 64,605,391 (GRCm39)	I396K	probably benign	Het

Other mutations in Nptn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Nptn	APN	9	58,550,922 (GRCm39)	missense	probably damaging	1.00
kinda_slow	UTSW	9	58,531,035 (GRCm39)	missense	probably damaging	1.00
R0212:Nptn	UTSW	9	58,535,164 (GRCm39)	missense	probably benign	0.03
R1585:Nptn	UTSW	9	58,548,073 (GRCm39)	missense	probably benign	0.17
R1673:Nptn	UTSW	9	58,531,015 (GRCm39)	missense	probably benign	0.12
R2484:Nptn	UTSW	9	58,550,956 (GRCm39)	missense	possibly damaging	0.85
R4151:Nptn	UTSW	9	58,550,825 (GRCm39)	missense	probably benign	0.14
R4389:Nptn	UTSW	9	58,551,055 (GRCm39)	missense	probably damaging	1.00
R4721:Nptn	UTSW	9	58,548,059 (GRCm39)	missense	probably damaging	1.00
R5166:Nptn	UTSW	9	58,526,263 (GRCm39)	nonsense	probably null
R5346:Nptn	UTSW	9	58,531,070 (GRCm39)	nonsense	probably null
R6494:Nptn	UTSW	9	58,531,035 (GRCm39)	missense	probably damaging	1.00
R6520:Nptn	UTSW	9	58,551,017 (GRCm39)	missense	probably damaging	1.00
R7506:Nptn	UTSW	9	58,526,156 (GRCm39)	missense	probably damaging	1.00
R8762:Nptn	UTSW	9	58,525,905 (GRCm39)	intron	probably benign
R8867:Nptn	UTSW	9	58,526,264 (GRCm39)	missense	probably damaging	1.00
R9124:Nptn	UTSW	9	58,558,498 (GRCm39)	unclassified	probably benign

Posted On

2014-05-07