Mutagenetix > Incidental Mutation

Incidental Mutation 'R2418:Rtn1'

249093

Institutional Source

Beutler Lab

Gene Symbol

Rtn1

Ensembl Gene

ENSMUSG00000021087

Gene Name

reticulon 1

Synonyms

Rtn1-c, 4930441F12Rik, Nsp, Rtn1-a, Rtn1-b, 0710005K15Rik

MMRRC Submission

040380-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2418 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

72258526-72455828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72351052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 386 (T386A)

Ref Sequence

ENSEMBL: ENSMUSP00000077594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078505]

AlphaFold

Q8K0T0

Predicted Effect

probably benign
Transcript: ENSMUST00000078505
AA Change: T386A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077594
Gene: ENSMUSG00000021087
AA Change: T386A

Domain	Start	End	E-Value	Type
low complexity region	135	152	N/A	INTRINSIC
low complexity region	217	226	N/A	INTRINSIC
low complexity region	327	341	N/A	INTRINSIC
low complexity region	438	448	N/A	INTRINSIC
low complexity region	473	480	N/A	INTRINSIC
low complexity region	574	586	N/A	INTRINSIC
Pfam:Reticulon	593	757	2.2e-46	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,328,001 (GRCm39)	A768T	probably benign	Het
Acox3	A	G	5: 35,761,982 (GRCm39)	N442S	probably benign	Het
Acp5	C	A	9: 22,041,248 (GRCm39)	V60L	probably benign	Het
Arap3	T	C	18: 38,122,997 (GRCm39)	D501G	probably damaging	Het
Bcorl1	A	G	X: 47,459,418 (GRCm39)	T425A	probably damaging	Het
Btd	G	A	14: 31,363,093 (GRCm39)		probably null	Het
Cfap251	A	C	5: 123,392,331 (GRCm39)		probably benign	Het
Cfap74	T	A	4: 155,540,166 (GRCm39)		probably benign	Het
Cnot8	G	A	11: 58,006,136 (GRCm39)	G222R	probably damaging	Het
Col4a4	G	T	1: 82,510,657 (GRCm39)	A205E	unknown	Het
Cwf19l1	T	C	19: 44,119,911 (GRCm39)	T77A	probably benign	Het
Cyp2b9	A	G	7: 25,886,132 (GRCm39)	T100A	probably benign	Het
Ddx24	A	G	12: 103,383,996 (GRCm39)	L485P	probably damaging	Het
Dnah9	A	T	11: 65,986,241 (GRCm39)	L1131*	probably null	Het
Dnase1l3	T	A	14: 7,968,089 (GRCm38)	E272V	possibly damaging	Het
Dscc1	G	A	15: 54,946,820 (GRCm39)	R302*	probably null	Het
Elk3	T	C	10: 93,120,689 (GRCm39)	N50S	probably damaging	Het
Fmo3	A	T	1: 162,794,527 (GRCm39)	I181K	probably benign	Het
Golga3	T	C	5: 110,349,734 (GRCm39)	I655T	probably damaging	Het
Hspa1l	A	T	17: 35,196,164 (GRCm39)	T68S	probably benign	Het
Itgax	C	T	7: 127,741,505 (GRCm39)	R839W	probably damaging	Het
Itk	A	G	11: 46,229,044 (GRCm39)	F379L	probably damaging	Het
Kif7	C	A	7: 79,348,441 (GRCm39)	R1300L	probably benign	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Kmt5b	C	T	19: 3,857,266 (GRCm39)	A318V	probably benign	Het
Krt78	T	C	15: 101,855,069 (GRCm39)	Y914C	probably benign	Het
Lactb2	T	C	1: 13,730,563 (GRCm39)	T38A	possibly damaging	Het
Lmbr1l	A	C	15: 98,805,418 (GRCm39)	F361C	possibly damaging	Het
Magi1	T	C	6: 93,722,891 (GRCm39)	D329G	probably damaging	Het
Map3k5	T	A	10: 19,986,603 (GRCm39)	V939E	probably benign	Het
Mcm8	C	T	2: 132,666,658 (GRCm39)	A233V	probably benign	Het
Mcur1	C	T	13: 43,703,013 (GRCm39)	V241M	possibly damaging	Het
Mical2	G	T	7: 111,919,941 (GRCm39)		probably null	Het
Nudt13	A	G	14: 20,361,581 (GRCm39)	E219G	probably damaging	Het
Or4c107	A	G	2: 88,789,380 (GRCm39)	N190S	probably benign	Het
Or52d3	A	T	7: 104,229,141 (GRCm39)	H96L	probably benign	Het
Or6b1	A	G	6: 42,814,983 (GRCm39)	H56R	probably benign	Het
Osbpl7	A	C	11: 96,950,004 (GRCm39)	D395A	probably benign	Het
Osbpl9	A	G	4: 108,923,415 (GRCm39)	C495R	probably damaging	Het
Pcdhac1	T	C	18: 37,224,381 (GRCm39)	L398P	probably benign	Het
Pcnx4	T	A	12: 72,603,037 (GRCm39)	F433Y	probably damaging	Het
Pdp1	G	A	4: 11,961,838 (GRCm39)	P158S	probably damaging	Het
Pkd1l3	A	C	8: 110,397,353 (GRCm39)	*2152C	probably null	Het
Plcxd3	G	T	15: 4,604,245 (GRCm39)	K284N	probably benign	Het
Plxnb2	A	G	15: 89,045,272 (GRCm39)	V1058A	possibly damaging	Het
Ptbp1	T	C	10: 79,695,511 (GRCm39)	Y187H	probably damaging	Het
Resp18	T	C	1: 75,248,955 (GRCm39)	*176W	probably null	Het
Rps6ka2	A	C	17: 7,566,738 (GRCm39)	Q665H	possibly damaging	Het
Samt2	A	T	X: 153,358,223 (GRCm39)		probably null	Het
Scn1a	T	C	2: 66,104,187 (GRCm39)	N1663S	probably damaging	Het
Smyd1	A	T	6: 71,216,537 (GRCm39)	I70N	probably damaging	Het
Tas2r105	T	C	6: 131,664,410 (GRCm39)	E6G	probably damaging	Het
Tchh	G	T	3: 93,352,936 (GRCm39)	R792L	unknown	Het
Tenm3	C	T	8: 48,729,693 (GRCm39)	D1438N	possibly damaging	Het
Tmem184b	A	G	15: 79,250,143 (GRCm39)	Y211H	possibly damaging	Het
Top3a	C	A	11: 60,638,842 (GRCm39)	G551V	possibly damaging	Het
Vmn1r168	A	T	7: 23,240,824 (GRCm39)	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,740,420 (GRCm39)	L17R	probably damaging	Het

Other mutations in Rtn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Rtn1	APN	12	72,455,285 (GRCm39)	missense	probably benign	0.18
IGL01335:Rtn1	APN	12	72,355,124 (GRCm39)	missense	probably benign
IGL01394:Rtn1	APN	12	72,355,190 (GRCm39)	missense	probably benign	0.00
IGL01551:Rtn1	APN	12	72,263,709 (GRCm39)	missense	possibly damaging	0.63
IGL01865:Rtn1	APN	12	72,266,074 (GRCm39)	missense	probably damaging	1.00
IGL02585:Rtn1	APN	12	72,354,929 (GRCm39)	critical splice donor site	probably null
PIT4802001:Rtn1	UTSW	12	72,351,100 (GRCm39)	missense	probably benign	0.21
R0104:Rtn1	UTSW	12	72,355,619 (GRCm39)	missense	probably damaging	0.99
R0866:Rtn1	UTSW	12	72,355,156 (GRCm39)	nonsense	probably null
R1099:Rtn1	UTSW	12	72,351,241 (GRCm39)	splice site	probably null
R1438:Rtn1	UTSW	12	72,351,187 (GRCm39)	missense	probably damaging	0.98
R1610:Rtn1	UTSW	12	72,266,053 (GRCm39)	missense	possibly damaging	0.90
R1694:Rtn1	UTSW	12	72,270,298 (GRCm39)	missense	probably damaging	1.00
R1869:Rtn1	UTSW	12	72,354,942 (GRCm39)	missense	probably damaging	1.00
R1888:Rtn1	UTSW	12	72,283,307 (GRCm39)	intron	probably benign
R1889:Rtn1	UTSW	12	72,351,184 (GRCm39)	missense	possibly damaging	0.87
R1892:Rtn1	UTSW	12	72,259,337 (GRCm39)	missense	probably damaging	1.00
R2760:Rtn1	UTSW	12	72,455,136 (GRCm39)	missense	probably benign	0.00
R2973:Rtn1	UTSW	12	72,270,163 (GRCm39)	missense	probably damaging	1.00
R4567:Rtn1	UTSW	12	72,259,261 (GRCm39)	utr 3 prime	probably benign
R4880:Rtn1	UTSW	12	72,264,232 (GRCm39)	missense	possibly damaging	0.88
R4945:Rtn1	UTSW	12	72,264,258 (GRCm39)	missense	probably damaging	1.00
R6183:Rtn1	UTSW	12	72,455,265 (GRCm39)	missense	probably benign	0.09
R6493:Rtn1	UTSW	12	72,355,103 (GRCm39)	missense	probably damaging	0.99
R6547:Rtn1	UTSW	12	72,355,535 (GRCm39)	missense	possibly damaging	0.59
R6602:Rtn1	UTSW	12	72,266,092 (GRCm39)	missense	probably damaging	0.99
R7474:Rtn1	UTSW	12	72,355,164 (GRCm39)	missense	possibly damaging	0.87
R7615:Rtn1	UTSW	12	72,350,917 (GRCm39)	missense	probably damaging	1.00
R7697:Rtn1	UTSW	12	72,455,151 (GRCm39)	missense	probably benign	0.32
R7748:Rtn1	UTSW	12	72,263,700 (GRCm39)	missense	possibly damaging	0.53
R7754:Rtn1	UTSW	12	72,355,203 (GRCm39)	missense	probably damaging	0.96
R7834:Rtn1	UTSW	12	72,350,806 (GRCm39)	missense	probably damaging	0.99
R7970:Rtn1	UTSW	12	72,355,648 (GRCm39)	missense	probably benign	0.06
R8290:Rtn1	UTSW	12	72,355,193 (GRCm39)	missense	probably benign	0.07
R8311:Rtn1	UTSW	12	72,350,838 (GRCm39)	missense	probably damaging	1.00
R8440:Rtn1	UTSW	12	72,270,173 (GRCm39)	missense	probably damaging	1.00
R9393:Rtn1	UTSW	12	72,263,586 (GRCm39)	nonsense	probably null
R9579:Rtn1	UTSW	12	72,270,289 (GRCm39)	missense	probably damaging	0.99
R9632:Rtn1	UTSW	12	72,350,961 (GRCm39)	missense	probably damaging	1.00
Z1177:Rtn1	UTSW	12	72,355,638 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CAGGATGCTGTACTGGATGG -3'
(R):5'- TGTGTGTTTCTCAAGCAACG -3'

Sequencing Primer
(F):5'- CTGTACTGGATGGATGGAGAGGC -3'
(R):5'- GTGTGTTTCTCAAGCAACGACAAAAC -3'

Posted On

2014-11-12