Mutagenetix > Incidental Mutation

Incidental Mutation 'R1892:Rtn1'

211635

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

039912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72258526-72455828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72259337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 772 (I772T)

Ref Sequence

ENSEMBL: ENSMUSP00000077594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021497] [ENSMUST00000078505] [ENSMUST00000137990]

AlphaFold

Q8K0T0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021497
AA Change: I200T

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021497
Gene: ENSMUSG00000021087
AA Change: I200T

Domain	Start	End	E-Value	Type
Pfam:Reticulon	21	191	1.2e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000078505
AA Change: I772T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077594
Gene: ENSMUSG00000021087
AA Change: I772T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137990
AA Change: I245T

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120033
Gene: ENSMUSG00000021087
AA Change: I245T

Domain	Start	End	E-Value	Type
low complexity region	11	32	N/A	INTRINSIC
low complexity region	38	50	N/A	INTRINSIC
Pfam:Reticulon	66	236	2.3e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150156

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,815,561 (GRCm39)	A270T	probably benign	Het
Abcb7	A	T	X: 103,386,142 (GRCm39)	H97Q	probably damaging	Het
Adat3	T	C	10: 80,442,249 (GRCm39)	L29P	probably damaging	Het
AI987944	A	T	7: 41,024,020 (GRCm39)	C320S	probably damaging	Het
Asic4	C	T	1: 75,446,126 (GRCm39)	R285W	probably damaging	Het
Asic5	A	T	3: 81,928,293 (GRCm39)	I419L	probably damaging	Het
Batf	A	G	12: 85,736,102 (GRCm39)	K42E	probably damaging	Het
Bcar3	A	G	3: 122,301,785 (GRCm39)	N160S	probably benign	Het
Bco2	C	A	9: 50,461,863 (GRCm39)	G47V	probably damaging	Het
Bicc1	T	G	10: 70,794,614 (GRCm39)	K181T	probably damaging	Het
Brinp2	A	G	1: 158,082,542 (GRCm39)		probably null	Het
Cacng8	A	G	7: 3,463,568 (GRCm39)	D240G	possibly damaging	Het
Calca	A	G	7: 114,232,962 (GRCm39)	Y96H	probably damaging	Het
Cdh1	A	T	8: 107,390,882 (GRCm39)	K666I	possibly damaging	Het
Cdh16	A	T	8: 105,344,631 (GRCm39)	I500N	possibly damaging	Het
Chst14	A	G	2: 118,757,830 (GRCm39)	Y208C	probably damaging	Het
Chst9	T	C	18: 15,586,017 (GRCm39)	H182R	probably damaging	Het
Clk2	A	G	3: 89,082,502 (GRCm39)	I367M	possibly damaging	Het
Cobl	G	C	11: 12,203,258 (GRCm39)	S1066W	probably damaging	Het
Ctcfl	A	G	2: 172,960,478 (GRCm39)	V35A	probably benign	Het
Dchs1	G	T	7: 105,413,363 (GRCm39)	H1151N	probably benign	Het
Dennd1c	T	C	17: 57,374,083 (GRCm39)	T529A	probably benign	Het
Dnah11	A	T	12: 118,070,209 (GRCm39)	V1532D	possibly damaging	Het
Dync1h1	A	G	12: 110,612,738 (GRCm39)	Y2871C	probably damaging	Het
Dytn	T	C	1: 63,716,420 (GRCm39)	E51G	probably benign	Het
Esd	C	T	14: 74,987,113 (GRCm39)	A266V	probably damaging	Het
Gli1	T	C	10: 127,165,975 (GRCm39)	M1093V	possibly damaging	Het
Gm15446	A	G	5: 110,091,253 (GRCm39)	K502E	probably damaging	Het
Gm4076	T	A	13: 85,275,447 (GRCm39)		noncoding transcript	Het
Gm9830	A	G	9: 44,375,825 (GRCm39)		noncoding transcript	Het
Gm9938	G	A	19: 23,701,955 (GRCm39)		probably benign	Het
Grhl1	G	A	12: 24,634,909 (GRCm39)	R245H	probably damaging	Het
Hnrnpul1	A	T	7: 25,426,191 (GRCm39)	D553E	probably benign	Het
Hpn	G	A	7: 30,798,468 (GRCm39)	Q415*	probably null	Het
Hsd11b1	T	G	1: 192,906,068 (GRCm39)	M175L	probably benign	Het
Htra1	G	A	7: 130,586,799 (GRCm39)	V461I	possibly damaging	Het
Il1rl2	A	G	1: 40,366,694 (GRCm39)	H76R	probably damaging	Het
Insrr	G	A	3: 87,721,184 (GRCm39)	V1112M	probably damaging	Het
Ints9	T	C	14: 65,257,872 (GRCm39)	S351P	probably benign	Het
Itgav	T	A	2: 83,601,680 (GRCm39)	N350K	probably damaging	Het
Kdm4d	C	A	9: 14,375,613 (GRCm39)	V82L	probably benign	Het
Klc1	T	C	12: 111,748,261 (GRCm39)		probably null	Het
Kmt5c	T	A	7: 4,745,714 (GRCm39)	C69*	probably null	Het
Lgals3	T	G	14: 47,622,164 (GRCm39)	N193K	possibly damaging	Het
Morc2b	T	A	17: 33,354,748 (GRCm39)	D1008V	probably damaging	Het
Mpg	C	T	11: 32,181,720 (GRCm39)	Q243*	probably null	Het
Muc15	C	T	2: 110,567,697 (GRCm39)	R281*	probably null	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nek5	A	G	8: 22,597,745 (GRCm39)	M278T	probably benign	Het
Npas2	A	G	1: 39,384,503 (GRCm39)	T599A	probably benign	Het
Nrf1	A	G	6: 30,144,787 (GRCm39)	D519G	probably null	Het
Nup43	A	G	10: 7,549,373 (GRCm39)	H176R	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or10j3	T	C	1: 173,031,795 (GRCm39)	Y291H	probably damaging	Het
Or5p72	A	T	7: 108,022,147 (GRCm39)	Y123F	possibly damaging	Het
Or6c75	A	C	10: 129,336,902 (GRCm39)	I50L	probably benign	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Pik3ip1	G	T	11: 3,283,304 (GRCm39)	A135S	probably damaging	Het
Pira13	A	C	7: 3,827,573 (GRCm39)	C195G	probably benign	Het
Ppp4c	A	G	7: 126,385,452 (GRCm39)	V119A	probably damaging	Het
Prepl	A	G	17: 85,395,878 (GRCm39)	Y35H	possibly damaging	Het
Ptpn13	A	G	5: 103,649,545 (GRCm39)	Y316C	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Ranbp2	T	C	10: 58,299,921 (GRCm39)	V491A	probably benign	Het
Ranbp9	C	A	13: 43,569,933 (GRCm39)	C495F	possibly damaging	Het
Rfx8	A	T	1: 39,709,746 (GRCm39)		probably null	Het
Rnf111	T	A	9: 70,383,656 (GRCm39)	K92N	probably damaging	Het
Ryr2	T	A	13: 11,673,844 (GRCm39)	K72*	probably null	Het
Sergef	A	T	7: 46,264,040 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,620,665 (GRCm39)	N305S	probably damaging	Het
Slc40a1	A	T	1: 45,950,302 (GRCm39)	C383*	probably null	Het
Stab2	C	T	10: 86,773,913 (GRCm39)	C806Y	probably damaging	Het
Stard9	A	G	2: 120,524,189 (GRCm39)	T795A	probably benign	Het
Stk31	T	C	6: 49,415,408 (GRCm39)	I536T	probably damaging	Het
Stox1	T	A	10: 62,501,178 (GRCm39)	T461S	possibly damaging	Het
Suv39h2	T	C	2: 3,460,805 (GRCm39)	Y219C	probably damaging	Het
Tap1	T	G	17: 34,413,915 (GRCm39)	D643E	probably damaging	Het
Tbc1d2b	T	A	9: 90,100,996 (GRCm39)	I665F	probably damaging	Het
Tdrd6	T	C	17: 43,935,696 (GRCm39)	N1784S	probably benign	Het
Tmem14c	T	C	13: 41,174,633 (GRCm39)	F81L	possibly damaging	Het
Tnrc6c	A	G	11: 117,605,188 (GRCm39)	N108D	probably benign	Het
Tox3	A	T	8: 90,996,869 (GRCm39)	N131K	probably benign	Het
Tspear	T	A	10: 77,706,308 (GRCm39)	D359E	probably benign	Het
Ttc9	A	G	12: 81,678,551 (GRCm39)	I125V	probably benign	Het
Ttn	A	T	2: 76,728,531 (GRCm39)		probably benign	Het
Ubn2	C	T	6: 38,468,226 (GRCm39)	S980F	probably damaging	Het
Vcf1	G	T	11: 113,554,212 (GRCm39)	P161H	probably damaging	Het
Zfp362	T	A	4: 128,684,057 (GRCm39)	T30S	probably benign	Het
Zfp385c	A	C	11: 100,528,630 (GRCm39)	H32Q	probably damaging	Het
Zfp870	A	T	17: 33,102,863 (GRCm39)	H156Q	possibly damaging	Het
Zfp873	T	C	10: 81,897,080 (GRCm39)	C641R	probably damaging	Het
Zfp950	A	T	19: 61,107,549 (GRCm39)	H511Q	probably benign	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
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
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'- GGGCGGCTCATATATCCTAAG -3'
(R):5'- AGAATGCAGCTCTCTTGTCTG -3'

Sequencing Primer
(F):5'- GGCGGCTCATATATCCTAAGAGTAC -3'
(R):5'- GGGCCCCATTCAACGTTCTG -3'

Posted On

2014-06-30