Mutagenetix > Incidental Mutation

Incidental Mutation 'R6470:Nxph3'

516489

Institutional Source

Beutler Lab

Gene Symbol

Nxph3

Ensembl Gene

ENSMUSG00000046719

Gene Name

neurexophilin 3

Synonyms

MMRRC Submission

044603-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R6470 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95400671-95405380 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95401919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 165 (I165T)

Ref Sequence

ENSEMBL: ENSMUSP00000058254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058866]

AlphaFold

Q91VX5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058866
AA Change: I165T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058254
Gene: ENSMUSG00000046719
AA Change: I165T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Neurexophilin	57	252	7.4e-100	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (45/45)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display alterations in sensory information processing and motor coordination, as shown by increased startle response, reduced prepulse inhibition, and impaired rotarod performance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	G	T	8: 88,290,656 (GRCm39)	V5L	probably benign	Het
Bptf	A	G	11: 106,963,593 (GRCm39)	V1804A	probably damaging	Het
Brinp3	A	G	1: 146,777,644 (GRCm39)	D697G	probably damaging	Het
Carns1	T	C	19: 4,221,782 (GRCm39)	T158A	possibly damaging	Het
Cd300lg	A	G	11: 101,941,331 (GRCm39)	N244S	possibly damaging	Het
Ces3b	A	T	8: 105,815,285 (GRCm39)	Q12L	possibly damaging	Het
Chd9	A	G	8: 91,659,426 (GRCm39)	T129A	probably damaging	Het
Clca3a2	T	A	3: 144,510,024 (GRCm39)		probably null	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyp2b10	T	C	7: 25,611,081 (GRCm39)	I146T	possibly damaging	Het
Cyp4v3	C	T	8: 45,770,773 (GRCm39)	W244*	probably null	Het
Dnah6	T	A	6: 73,051,569 (GRCm39)	D3075V	probably damaging	Het
Dpy19l2	A	T	9: 24,572,039 (GRCm39)	I327N	possibly damaging	Het
Dst	T	A	1: 34,334,318 (GRCm39)	F4849I	probably damaging	Het
Dysf	A	G	6: 84,043,926 (GRCm39)	I256V	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Garin5b	T	C	7: 4,760,850 (GRCm39)	T621A	probably benign	Het
Gba1	C	T	3: 89,111,388 (GRCm39)	P51L	probably benign	Het
Gm9936	T	C	5: 114,995,482 (GRCm39)		probably benign	Het
Gria4	A	G	9: 4,503,680 (GRCm39)	F312S	probably damaging	Het
Ifna2	T	C	4: 88,601,751 (GRCm39)	N89S	probably benign	Het
Il17rb	A	G	14: 29,724,866 (GRCm39)	S207P	probably benign	Het
Itga9	A	T	9: 118,726,335 (GRCm39)	I430F	probably damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Ltk	A	T	2: 119,583,516 (GRCm39)		probably null	Het
Nat8l	C	T	5: 34,155,836 (GRCm39)	T164M	probably damaging	Het
Nrf1	A	G	6: 30,102,199 (GRCm39)	D166G	probably damaging	Het
Or10a4	T	C	7: 106,696,951 (GRCm39)	I93T	probably damaging	Het
Phlpp2	A	G	8: 110,663,826 (GRCm39)	D955G	probably benign	Het
Pianp	T	A	6: 124,976,232 (GRCm39)		probably benign	Het
Plin2	G	T	4: 86,586,607 (GRCm39)	Q75K	probably damaging	Het
Qrich1	T	C	9: 108,411,717 (GRCm39)	V414A	probably damaging	Het
Ros1	A	G	10: 52,042,140 (GRCm39)		probably null	Het
Sardh	C	T	2: 27,134,384 (GRCm39)	R44Q	probably damaging	Het
Scaf4	C	T	16: 90,026,526 (GRCm39)	W1072*	probably null	Het
Sh3rf3	A	G	10: 58,819,791 (GRCm39)	K201E	probably damaging	Het
Shprh	G	T	10: 11,047,681 (GRCm39)	A1010S	probably damaging	Het
Slc35d1	A	G	4: 103,047,019 (GRCm39)	S260P	probably damaging	Het
Smap2	GACTCTAC	GAC	4: 120,830,282 (GRCm39)		probably benign	Het
Sptb	A	G	12: 76,659,603 (GRCm39)	L1099P	probably damaging	Het
Srrt	T	C	5: 137,300,918 (GRCm39)	D90G	probably damaging	Het
Syt10	T	C	15: 89,676,804 (GRCm39)	D394G	probably damaging	Het
Tlr3	T	C	8: 45,850,422 (GRCm39)	D301G	probably damaging	Het
Ubr3	T	A	2: 69,795,804 (GRCm39)	M916K	probably benign	Het

Other mutations in Nxph3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Nxph3	APN	11	95,401,919 (GRCm39)	missense	possibly damaging	0.93
IGL02411:Nxph3	APN	11	95,401,656 (GRCm39)	makesense	probably null
IGL02666:Nxph3	APN	11	95,401,834 (GRCm39)	missense	possibly damaging	0.93
R0281:Nxph3	UTSW	11	95,402,082 (GRCm39)	missense	possibly damaging	0.95
R0827:Nxph3	UTSW	11	95,402,252 (GRCm39)	missense	probably benign	0.01
R2226:Nxph3	UTSW	11	95,404,990 (GRCm39)	missense	probably benign	0.11
R4829:Nxph3	UTSW	11	95,402,321 (GRCm39)	missense	probably benign	0.17
R6991:Nxph3	UTSW	11	95,402,244 (GRCm39)	missense	probably damaging	0.97
R7113:Nxph3	UTSW	11	95,401,892 (GRCm39)	missense	possibly damaging	0.95
R8700:Nxph3	UTSW	11	95,401,706 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGTTGTAATCTGGGCACACC -3'
(R):5'- TCAAGACAGTGGCCCTGAAC -3'

Sequencing Primer
(F):5'- ACCAGTCGATAGTCCGTGCTATAG -3'
(R):5'- ACCTGCTGGTCACAGGCAAG -3'

Posted On

2018-05-21