Mutagenetix > Incidental Mutation

Incidental Mutation 'R4389:Nptn'

326336

Institutional Source

Beutler Lab

Gene Symbol

Nptn

Ensembl Gene

ENSMUSG00000032336

Gene Name

neuroplastin

Synonyms

Sdfr1

MMRRC Submission

041126-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58489504-58560162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58551055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 361 (K361E)

Ref Sequence

ENSEMBL: ENSMUSP00000135199 (fasta)

Gene Model

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

AlphaFold

P97300

Predicted Effect

probably damaging
Transcript: ENSMUST00000085651
AA Change: K245E

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

SMART Domains

Protein: ENSMUSP00000082793
Gene: ENSMUSG00000032336
AA Change: K245E

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

probably damaging
Transcript: ENSMUST00000114121
AA Change: K245E

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

SMART Domains

Protein: ENSMUSP00000109756
Gene: ENSMUSG00000032336
AA Change: K245E

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 damaging
Transcript: ENSMUST00000176250
AA Change: K135E

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

SMART Domains

Protein: ENSMUSP00000135250
Gene: ENSMUSG00000032336
AA Change: K135E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176557
AA Change: K245E

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

SMART Domains

Protein: ENSMUSP00000135541
Gene: ENSMUSG00000032336
AA Change: K245E

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: ENSMUST00000176896

SMART Domains

Protein: ENSMUSP00000134761
Gene: ENSMUSG00000032336

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 damaging
Transcript: ENSMUST00000176916
AA Change: K135E

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

SMART Domains

Protein: ENSMUSP00000134977
Gene: ENSMUSG00000032336
AA Change: K135E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177064
AA Change: K157E

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

SMART Domains

Protein: ENSMUSP00000135316
Gene: ENSMUSG00000032336
AA Change: K157E

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 damaging
Transcript: ENSMUST00000177292
AA Change: K361E

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

SMART Domains

Protein: ENSMUSP00000135199
Gene: ENSMUSG00000032336
AA Change: K361E

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

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

Meta Mutation Damage Score

0.8534

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 92.6%

Validation Efficiency

87% (26/30)

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,247,878 (GRCm39)	T2542P	probably damaging	Het
Adprm	C	T	11: 66,929,019 (GRCm39)	R324K	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cd209b	A	G	8: 3,975,960 (GRCm39)	L67P	probably damaging	Het
Cfap54	T	A	10: 92,803,362 (GRCm39)	K1560M	probably benign	Het
Ctps1	T	C	4: 120,415,987 (GRCm39)	D212G	probably damaging	Het
Ercc6	T	A	14: 32,296,865 (GRCm39)	L1285*	probably null	Het
Gzma	G	T	13: 113,234,922 (GRCm39)		probably null	Het
Kng2	T	C	16: 22,843,618 (GRCm39)	I120M	possibly damaging	Het
Lhx3	C	T	2: 26,091,102 (GRCm39)		probably benign	Het
Mtfr1l	T	C	4: 134,259,953 (GRCm39)		probably benign	Het
Ndufb4	T	C	16: 37,468,032 (GRCm39)	N126S	probably benign	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Or5an1c	A	G	19: 12,218,503 (GRCm39)	V174A	probably damaging	Het
Orc2	T	C	1: 58,514,020 (GRCm39)	D332G	probably benign	Het
Pcdha4	T	C	18: 37,087,842 (GRCm39)	V675A	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Slc13a1	A	T	6: 24,092,397 (GRCm39)		probably null	Het
Tec	A	G	5: 72,939,350 (GRCm39)	Y222H	probably benign	Het
Ttll2	T	A	17: 7,618,599 (GRCm39)	R443*	probably null	Het
Vmn1r66	A	T	7: 10,008,715 (GRCm39)	L106*	probably null	Het
Zfp189	A	G	4: 49,529,934 (GRCm39)	R346G	probably damaging	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
IGL02043:Nptn	APN	9	58,548,012 (GRCm39)	missense	possibly damaging	0.56
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAAATCACAGAAGATCCTGG -3'
(R):5'- AGGCCTAGGGTTTGGAGAAC -3'

Sequencing Primer
(F):5'- TCCTGGAGAGTATGAATGTAATGCC -3'
(R):5'- ACGAGTCCTTACATTCCTC -3'

Posted On

2015-07-06