Mutagenetix > Incidental Mutation

Incidental Mutation 'R7506:Nptn'

581795

Institutional Source

Beutler Lab

Gene Symbol

Nptn

Ensembl Gene

ENSMUSG00000032336

Gene Name

neuroplastin

Synonyms

Sdfr1

MMRRC Submission

045579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7506 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58489504-58560162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58526156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 101 (L101P)

Ref Sequence

ENSEMBL: ENSMUSP00000135199 (fasta)

Gene Model

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

AlphaFold

P97300

Predicted Effect

probably benign
Transcript: ENSMUST00000085651

SMART Domains

Protein: ENSMUSP00000082793
Gene: ENSMUSG00000032336

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 benign
Transcript: ENSMUST00000114121

SMART Domains

Protein: ENSMUSP00000109756
Gene: ENSMUSG00000032336

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

probably benign
Transcript: ENSMUST00000176557

SMART Domains

Protein: ENSMUSP00000135541
Gene: ENSMUSG00000032336

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 benign
Transcript: ENSMUST00000177064

SMART Domains

Protein: ENSMUSP00000135316
Gene: ENSMUSG00000032336

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: L101P

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

SMART Domains

Protein: ENSMUSP00000135199
Gene: ENSMUSG00000032336
AA Change: L101P

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

0.9500

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (58/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,209,202 (GRCm39)	V31I	probably benign	Het
4933430I17Rik	T	C	4: 62,450,498 (GRCm39)	V24A	possibly damaging	Het
Adamtsl3	A	T	7: 82,164,186 (GRCm39)	R334W	probably damaging	Het
Aox1	G	A	1: 58,088,562 (GRCm39)	C116Y	probably damaging	Het
B3gntl1	A	T	11: 121,561,740 (GRCm39)	I74N	probably damaging	Het
Bicra	C	T	7: 15,722,138 (GRCm39)	V460M	possibly damaging	Het
Ccdc18	G	A	5: 108,311,605 (GRCm39)	C437Y	possibly damaging	Het
Cdh6	A	G	15: 13,034,396 (GRCm39)	S755P	probably damaging	Het
Crtc2	G	T	3: 90,166,519 (GRCm39)	A165S	probably damaging	Het
Cwf19l2	C	T	9: 3,456,775 (GRCm39)	H703Y	probably damaging	Het
Cyc1	C	A	15: 76,227,885 (GRCm39)	T41K	probably benign	Het
Defb28	A	T	2: 152,360,221 (GRCm39)	H12L	possibly damaging	Het
Dsg3	T	A	18: 20,666,521 (GRCm39)	C577S	probably benign	Het
Ggt6	G	T	11: 72,328,724 (GRCm39)	C408F	possibly damaging	Het
Gm3278	T	A	14: 16,080,479 (GRCm39)	Y97N	probably damaging	Het
Gpr155	A	G	2: 73,198,683 (GRCm39)	L412P	probably damaging	Het
Gucd1	T	C	10: 75,347,019 (GRCm39)	H77R	probably benign	Het
H2bc8	G	A	13: 23,755,658 (GRCm39)	A18T	unknown	Het
Hat1	T	A	2: 71,250,691 (GRCm39)	I158N	probably damaging	Het
Hhla1	C	T	15: 65,808,231 (GRCm39)	W271*	probably null	Het
Igsf10	T	A	3: 59,226,775 (GRCm39)	L2299F	probably damaging	Het
Iqsec1	A	G	6: 90,644,891 (GRCm39)	S914P	probably damaging	Het
Iqsec1	G	T	6: 90,639,788 (GRCm39)	H983Q	possibly damaging	Het
Irx2	G	T	13: 72,777,328 (GRCm39)	G50C	probably damaging	Het
Kif26b	T	C	1: 178,357,064 (GRCm39)		probably benign	Het
Lmo7	A	G	14: 102,157,045 (GRCm39)	E1405G	unknown	Het
Mdm2	T	C	10: 117,526,596 (GRCm39)	D330G	possibly damaging	Het
Mgat5	A	C	1: 127,294,192 (GRCm39)	D178A	probably benign	Het
Mier2	C	A	10: 79,386,176 (GRCm39)	R25L	probably benign	Het
Mlip	T	C	9: 77,072,085 (GRCm39)	K257E	probably damaging	Het
Mtfr2	T	C	10: 20,229,131 (GRCm39)	S80P	probably benign	Het
Ndst2	A	G	14: 20,780,153 (GRCm39)	V29A	probably benign	Het
Negr1	T	G	3: 156,774,870 (GRCm39)	Y195*	probably null	Het
Nrip1	G	A	16: 76,091,347 (GRCm39)	T70I	probably damaging	Het
Nrtn	C	T	17: 57,058,633 (GRCm39)	V123M	probably damaging	Het
Onecut1	T	A	9: 74,770,522 (GRCm39)	F315Y	possibly damaging	Het
Or1p1	A	T	11: 74,179,949 (GRCm39)	H159L	possibly damaging	Het
P4htm	A	G	9: 108,460,878 (GRCm39)	L198S	probably damaging	Het
Pappa	A	C	4: 65,149,419 (GRCm39)	I920L	probably benign	Het
Pcdhgb5	A	C	18: 37,865,525 (GRCm39)	D440A	probably damaging	Het
Ppard	A	T	17: 28,517,735 (GRCm39)	N268Y	possibly damaging	Het
Rapgef6	T	A	11: 54,526,997 (GRCm39)	S563T	probably benign	Het
Rtn3	T	A	19: 7,407,118 (GRCm39)	E949D	probably benign	Het
Sf3a1	T	C	11: 4,127,561 (GRCm39)	M629T	probably benign	Het
Slc39a8	T	C	3: 135,590,067 (GRCm39)	I319T	probably benign	Het
Sorcs1	C	T	19: 50,171,112 (GRCm39)	W925*	probably null	Het
Spag9	G	A	11: 93,999,290 (GRCm39)	D1069N	probably damaging	Het
Taar7a	A	G	10: 23,868,892 (GRCm39)	V163A	possibly damaging	Het
Tmem150a	G	A	6: 72,333,753 (GRCm39)		probably null	Het
Tnxb	G	A	17: 34,934,665 (GRCm39)	V2425I	possibly damaging	Het
Tppp2	A	G	14: 52,158,058 (GRCm39)	K168E	possibly damaging	Het
Ttn	T	A	2: 76,719,812 (GRCm39)	D7099V	unknown	Het
Vmn1r41	A	T	6: 89,724,159 (GRCm39)	R50*	probably null	Het
Vmn1r60	T	C	7: 5,547,861 (GRCm39)	K80E		Het
Vmn2r18	A	G	5: 151,508,485 (GRCm39)	F213S	possibly damaging	Het
Vmn2r26	G	A	6: 124,016,700 (GRCm39)	S388N	probably benign	Het
Vmn2r63	A	T	7: 42,576,391 (GRCm39)	F474Y	probably damaging	Het
Zc3hav1	G	A	6: 38,309,875 (GRCm39)	R316*	probably null	Het
Zfp654	A	T	16: 64,612,211 (GRCm39)	I225N	probably damaging	Het
Zfp97	A	G	17: 17,365,542 (GRCm39)	E347G	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
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
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'- GGTTTGTCAAGTCGCCCATG -3'
(R):5'- TCATTGGGCCACCTCTAAAG -3'

Sequencing Primer
(F):5'- TGTCAGAAACTAAGCTCACGG -3'
(R):5'- TTGGGCCACCTCTAAAGACTACAG -3'

Posted On

2019-10-17