Mutagenetix > Incidental Mutation

Incidental Mutation 'R8762:Nptn'

690367

Institutional Source

Beutler Lab

Gene Symbol

Nptn

Ensembl Gene

ENSMUSG00000032336

Gene Name

neuroplastin

Synonyms

Sdfr1

MMRRC Submission

068622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58489504-58560162 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 58525905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135886 (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 benign
Transcript: ENSMUST00000177292

SMART Domains

Protein: ENSMUSP00000135199
Gene: ENSMUSG00000032336

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	G	11: 101,301,226 (GRCm39)	V272A	probably benign	Het
Acbd6	G	A	1: 155,562,706 (GRCm39)	E236K	probably damaging	Het
Actr1b	T	C	1: 36,748,909 (GRCm39)	N9S	probably benign	Het
Adam17	A	T	12: 21,401,595 (GRCm39)	D133E	probably benign	Het
Adam6b	G	A	12: 113,453,227 (GRCm39)	V15M	probably damaging	Het
Adam9	T	A	8: 25,457,235 (GRCm39)	N631I	probably damaging	Het
Albfm1	A	G	5: 90,714,461 (GRCm39)	N157S	probably benign	Het
Amy2a1	A	T	3: 113,325,276 (GRCm39)		probably benign	Het
Aplnr	A	T	2: 84,967,515 (GRCm39)	Y180F	probably benign	Het
Arhgef7	T	C	8: 11,831,216 (GRCm39)	V105A	probably benign	Het
Bambi	G	A	18: 3,511,277 (GRCm39)	D33N	probably damaging	Het
Bicc1	G	A	10: 70,779,216 (GRCm39)	T724I	probably benign	Het
Brd2	T	A	17: 34,335,934 (GRCm39)	Q93L	probably damaging	Het
Cacnb2	A	G	2: 14,972,759 (GRCm39)	D222G	possibly damaging	Het
Cdh1	G	T	8: 107,386,336 (GRCm39)	D420Y	probably damaging	Het
Cep162	T	C	9: 87,109,314 (GRCm39)	S430G	probably benign	Het
Cfap161	T	A	7: 83,443,282 (GRCm39)	R27S	possibly damaging	Het
Chek1	C	T	9: 36,629,636 (GRCm39)	A237T	probably benign	Het
Chrna3	T	A	9: 54,922,995 (GRCm39)	K271M	probably damaging	Het
Coro7	A	C	16: 4,452,203 (GRCm39)	V410G	probably benign	Het
Crmp1	C	A	5: 37,441,440 (GRCm39)	N507K	probably damaging	Het
Crocc	T	C	4: 140,761,369 (GRCm39)	R755G	possibly damaging	Het
Disc1	A	G	8: 125,881,796 (GRCm39)	D577G	probably damaging	Het
Dnah6	A	G	6: 73,156,811 (GRCm39)	Y649H	possibly damaging	Het
Flywch1	A	G	17: 23,975,731 (GRCm39)	S504P	probably damaging	Het
Fpr1	A	T	17: 18,097,851 (GRCm39)	V46D	probably damaging	Het
Fpr-rs7	C	T	17: 20,333,789 (GRCm39)	V234M	probably benign	Het
Ighv5-16	T	C	12: 113,802,288 (GRCm39)	N71D	probably benign	Het
Kash5	G	T	7: 44,845,481 (GRCm39)	D152E	probably damaging	Het
Kdm3b	A	G	18: 34,937,157 (GRCm39)	M480V	probably benign	Het
L3mbtl3	T	A	10: 26,152,121 (GRCm39)	D825V	probably damaging	Het
Lef1	T	A	3: 130,988,366 (GRCm39)	M311K	probably damaging	Het
Magi1	T	A	6: 93,792,789 (GRCm39)	R150*	probably null	Het
Magi3	C	T	3: 103,958,169 (GRCm39)	V639I	probably damaging	Het
Mocos	A	T	18: 24,812,554 (GRCm39)	R483W	probably damaging	Het
Mrps11	G	T	7: 78,438,487 (GRCm39)	V80F	possibly damaging	Het
Myh2	A	T	11: 67,084,578 (GRCm39)	R1706W	probably damaging	Het
Neurod6	T	A	6: 55,656,228 (GRCm39)	L136F	probably damaging	Het
Nfe2l1	A	T	11: 96,711,306 (GRCm39)	Y308N	probably damaging	Het
Or1e28-ps1	G	T	11: 73,615,307 (GRCm39)	T181N	unknown	Het
Or5g25	A	T	2: 85,478,034 (GRCm39)	S210R	probably damaging	Het
Oscar	A	G	7: 3,613,900 (GRCm39)	S227P	probably benign	Het
Phgdh	A	C	3: 98,247,024 (GRCm39)	I42R	possibly damaging	Het
Pla2g4a	C	T	1: 149,761,935 (GRCm39)	G174D	probably benign	Het
Plcd4	A	G	1: 74,591,213 (GRCm39)	T203A	possibly damaging	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Plppr4	A	T	3: 117,119,482 (GRCm39)	V309D	probably damaging	Het
Pltp	T	C	2: 164,686,652 (GRCm39)	K324E	possibly damaging	Het
Pml	C	T	9: 58,154,348 (GRCm39)	R175H	probably damaging	Het
Psg20	C	A	7: 18,408,557 (GRCm39)	V388F	probably benign	Het
Qrfprl	T	C	6: 65,424,393 (GRCm39)	V182A	probably benign	Het
Rabgef1	A	G	5: 130,237,557 (GRCm39)	D209G	possibly damaging	Het
Rif1	A	T	2: 52,001,742 (GRCm39)	N90I		Het
Sec31a	T	C	5: 100,526,688 (GRCm39)	H57R		Het
Sidt1	T	C	16: 44,152,707 (GRCm39)	N62S	probably benign	Het
Slc18a2	T	A	19: 59,261,355 (GRCm39)	M172K	probably benign	Het
Slc34a3	T	C	2: 25,121,003 (GRCm39)	T362A	probably benign	Het
Smtn	T	G	11: 3,476,407 (GRCm39)	D158A	probably benign	Het
Spen	C	T	4: 141,200,261 (GRCm39)	V2789M	probably damaging	Het
Taf2	A	T	15: 54,910,849 (GRCm39)	N608K	probably benign	Het
Tctn3	A	G	19: 40,595,636 (GRCm39)	V383A	unknown	Het
Themis3	A	T	17: 66,866,676 (GRCm39)	M188K	probably benign	Het
Trpv5	A	G	6: 41,652,313 (GRCm39)	V124A	probably benign	Het
Tshr	G	A	12: 91,504,324 (GRCm39)	V421M	probably damaging	Het
Ttn	T	A	2: 76,539,426 (GRCm39)	D34520V	probably benign	Het
Ttn	A	C	2: 76,608,294 (GRCm39)	Y17876*	probably null	Het
Zrsr2-ps1	T	C	11: 22,923,694 (GRCm39)	L156P	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
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
R7506:Nptn	UTSW	9	58,526,156 (GRCm39)	missense	probably damaging	1.00
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'- AAAATGCTTTCCAGTGGGCTTG -3'
(R):5'- TGAAAGACTCTGCCCGGTTG -3'

Sequencing Primer
(F):5'- GCCCCAGCTTGTAATTGGC -3'
(R):5'- AAAGACTCTGCCCGGTTGACTTC -3'

Posted On

2021-12-22