Mutagenetix > Incidental Mutation

Incidental Mutation 'R7697:Rtn1'

593728

Institutional Source

Beutler Lab

Gene Symbol

Rtn1

Ensembl Gene

ENSMUSG00000021087

Gene Name

reticulon 1

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72258526-72455828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72455151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 59 (S59P)

Ref Sequence

ENSEMBL: ENSMUSP00000077594 (fasta)

Gene Model

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

AlphaFold

Q8K0T0

Predicted Effect

probably benign
Transcript: ENSMUST00000078505
AA Change: S59P

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077594
Gene: ENSMUSG00000021087
AA Change: S59P

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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
Abhd4	T	C	14: 54,500,216 (GRCm39)	V87A	probably damaging	Het
Acadsb	A	G	7: 131,031,698 (GRCm39)	E178G	probably damaging	Het
Acoxl	A	G	2: 127,820,702 (GRCm39)	T365A	probably benign	Het
Adcy8	T	G	15: 64,618,850 (GRCm39)	I768L	probably benign	Het
Bloc1s4	A	G	5: 36,905,959 (GRCm39)	S11P	probably benign	Het
Brinp2	T	C	1: 158,095,496 (GRCm39)	I122V	probably benign	Het
Brwd1	T	C	16: 95,847,601 (GRCm39)	D673G	probably benign	Het
Cbx8	C	A	11: 118,931,637 (GRCm39)	E14*	probably null	Het
Cep295	T	A	9: 15,266,006 (GRCm39)	M49L	probably benign	Het
Cfap157	T	C	2: 32,669,765 (GRCm39)	N273D	probably benign	Het
Cntn3	A	T	6: 102,185,127 (GRCm39)	V663E	probably damaging	Het
Cntn3	C	T	6: 102,185,128 (GRCm39)	V663M	probably damaging	Het
Cspg5	G	C	9: 110,085,294 (GRCm39)	R488S	probably damaging	Het
Csrnp2	A	T	15: 100,385,953 (GRCm39)	M95K	probably damaging	Het
Dnah3	A	T	7: 119,566,657 (GRCm39)	V136E		Het
Drg2	T	A	11: 60,353,003 (GRCm39)	I212N	probably damaging	Het
Egfem1	T	C	3: 29,744,346 (GRCm39)		probably null	Het
Eif1ad18	T	C	12: 88,050,749 (GRCm39)	Y95H	probably damaging	Het
Enpep	T	A	3: 129,102,750 (GRCm39)	D402V	probably damaging	Het
Fanci	T	A	7: 79,056,040 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,881,306 (GRCm39)	V720D	probably damaging	Het
Fhod1	T	A	8: 106,074,563 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,456,516 (GRCm39)	I2238N	probably damaging	Het
Frmd4a	A	G	2: 4,488,892 (GRCm39)	E79G	probably damaging	Het
Gabrr2	A	T	4: 33,071,358 (GRCm39)	Y66F	probably benign	Het
Ggnbp1	T	G	17: 27,249,736 (GRCm39)	I192S	probably benign	Het
Gm32742	C	T	9: 51,058,901 (GRCm39)	V1039I	probably benign	Het
H2-D1	T	C	17: 35,482,121 (GRCm39)	L11P	probably damaging	Het
Hsd17b4	A	G	18: 50,263,208 (GRCm39)	Y25C	probably damaging	Het
Ildr2	C	A	1: 166,122,300 (GRCm39)	Q248K	probably benign	Het
Klrb1c	T	C	6: 128,757,273 (GRCm39)	H264R	probably benign	Het
Lrp11	C	T	10: 7,479,983 (GRCm39)	A346V	probably benign	Het
Mast4	G	A	13: 102,875,711 (GRCm39)	P1319L	probably damaging	Het
Mcm9	A	C	10: 53,491,990 (GRCm39)	F392V		Het
Med12l	C	T	3: 59,148,078 (GRCm39)	A965V	probably damaging	Het
Mrps7	A	G	11: 115,495,701 (GRCm39)	T80A	probably benign	Het
Mtor	T	A	4: 148,624,765 (GRCm39)	Y2125*	probably null	Het
Myoc	A	G	1: 162,475,049 (GRCm39)	E200G	probably damaging	Het
Natd1	A	G	11: 60,797,808 (GRCm39)	V39A	probably damaging	Het
Notch4	C	T	17: 34,789,159 (GRCm39)	T486I	probably damaging	Het
Or10am5	T	C	7: 6,517,645 (GRCm39)	Y261C	probably damaging	Het
Or10n1	A	G	9: 39,525,157 (GRCm39)	Q98R	probably damaging	Het
Or2c1	G	A	16: 3,657,430 (GRCm39)	V198M	probably damaging	Het
Or5aq6	T	A	2: 86,923,162 (GRCm39)	H193L	probably benign	Het
Pdss2	T	A	10: 43,221,544 (GRCm39)	I152N	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,065,885 (GRCm39)	E1395G	unknown	Het
Polr2b	T	C	5: 77,468,059 (GRCm39)	Y120H	probably damaging	Het
Pyroxd2	C	T	19: 42,735,805 (GRCm39)	C99Y	probably benign	Het
Rela	T	C	19: 5,691,630 (GRCm39)	V268A	probably damaging	Het
Rgs3	C	T	4: 62,575,379 (GRCm39)	P589S	probably benign	Het
Siae	A	G	9: 37,544,950 (GRCm39)	Y315C	probably damaging	Het
Susd3	C	A	13: 49,391,074 (GRCm39)	W147L	probably damaging	Het
Ttn	A	T	2: 76,702,047 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,728,030 (GRCm39)	Y131C	probably damaging	Het
Unc80	C	T	1: 66,677,104 (GRCm39)	P2011L	possibly damaging	Het
Usp9y	T	C	Y: 1,316,990 (GRCm39)	E1853G	possibly damaging	Het
Wls	C	A	3: 159,616,955 (GRCm39)	H331Q	probably benign	Het
Xkr6	C	A	14: 63,844,628 (GRCm39)	P217Q	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
R2418:Rtn1	UTSW	12	72,351,052 (GRCm39)	missense	probably benign
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
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'- TATTTACAGTCGCCAGGAGC -3'
(R):5'- TTGCAGCAAAAGCAGCGAC -3'

Sequencing Primer
(F):5'- GGAGCGAACCCCTACCTC -3'
(R):5'- AGACTCTGCAGCCTTCTGG -3'

Posted On

2019-11-12