Mutagenetix > Incidental Mutation

Incidental Mutation 'R8084:Retreg1'

629548

Institutional Source

Beutler Lab

Gene Symbol

Retreg1

Ensembl Gene

ENSMUSG00000022270

Gene Name

reticulophagy regulator 1

Synonyms

Fam134b, 1810015C04Rik

MMRRC Submission

067517-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R8084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25843266-25973773 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25969885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 130 (A130E)

Ref Sequence

ENSEMBL: ENSMUSP00000106068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022881] [ENSMUST00000110438] [ENSMUST00000226438] [ENSMUST00000227275] [ENSMUST00000228306] [ENSMUST00000228327] [ENSMUST00000228600]

AlphaFold

Q8VE91

Predicted Effect

SMART Domains

Protein: ENSMUSP00000022881
Gene: ENSMUSG00000022270
AA Change: A254E

Domain	Start	End	E-Value	Type
low complexity region	21	45	N/A	INTRINSIC
transmembrane domain	87	109	N/A	INTRINSIC
transmembrane domain	179	201	N/A	INTRINSIC
low complexity region	202	216	N/A	INTRINSIC
low complexity region	427	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110438
AA Change: A130E

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106068
Gene: ENSMUSG00000022270
AA Change: A130E

Domain	Start	End	E-Value	Type
transmembrane domain	55	77	N/A	INTRINSIC
low complexity region	78	92	N/A	INTRINSIC
low complexity region	303	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226438
AA Change: A138E

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000227275
AA Change: A130E

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000228306
AA Change: A120E

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000228600

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.9%
20x: 96.2%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased thermal nociceptive threshold and sensory neuron degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,323,979 (GRCm39)	Y190N	probably benign	Het
Acsl3	G	A	1: 78,669,844 (GRCm39)	D238N	probably damaging	Het
Acss1	T	A	2: 150,484,701 (GRCm39)	I181F	probably damaging	Het
Ano5	A	G	7: 51,229,287 (GRCm39)	I610V	probably benign	Het
Anxa6	A	T	11: 54,894,834 (GRCm39)	F256I	probably damaging	Het
Ash2l	A	G	8: 26,321,322 (GRCm39)	S273P	probably benign	Het
Baz2b	T	G	2: 59,792,580 (GRCm39)	E516A	probably benign	Het
Bbs2	G	T	8: 94,814,056 (GRCm39)	D187E	probably damaging	Het
Cacna1b	T	A	2: 24,575,808 (GRCm39)	M747L	probably benign	Het
Cacna2d4	C	A	6: 119,277,313 (GRCm39)	D675E	probably damaging	Het
Calcr	G	A	6: 3,687,615 (GRCm39)	T461M	probably benign	Het
Catip	A	G	1: 74,403,515 (GRCm39)	K126E	probably damaging	Het
Chga	T	C	12: 102,528,328 (GRCm39)	I273T	probably benign	Het
Clasp2	G	A	9: 113,676,823 (GRCm39)	V185I	probably benign	Het
Cracr2a	A	G	6: 127,616,135 (GRCm39)	N370S	probably benign	Het
Crygc	A	T	1: 65,110,981 (GRCm39)	V102D	probably benign	Het
Ddx23	A	G	15: 98,556,145 (GRCm39)	S58P	unknown	Het
Dlgap5	C	T	14: 47,645,298 (GRCm39)	G281D	probably benign	Het
Dnah5	A	T	15: 28,388,099 (GRCm39)	Y3186F	probably damaging	Het
Dpp6	A	C	5: 27,836,397 (GRCm39)	I296L	probably benign	Het
Elfn2	C	T	15: 78,556,660 (GRCm39)	R629H	probably damaging	Het
Eml2	G	T	7: 18,915,149 (GRCm39)		probably null	Het
Fitm1	T	A	14: 55,813,906 (GRCm39)	V134E	probably damaging	Het
Flnb	A	G	14: 7,907,243 (GRCm38)	N1272S	probably benign	Het
Fuca1	G	A	4: 135,662,114 (GRCm39)	W347*	probably null	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Gls2	G	A	10: 128,035,125 (GRCm39)	R86H	probably damaging	Het
Grin2b	T	C	6: 135,710,486 (GRCm39)	K1020R	probably benign	Het
H2-DMb1	T	A	17: 34,376,327 (GRCm39)	W149R	probably damaging	Het
Herc1	T	A	9: 66,383,217 (GRCm39)	S3629R	probably benign	Het
Itih4	A	T	14: 30,621,400 (GRCm39)	N821I	possibly damaging	Het
Kmt2d	A	T	15: 98,739,945 (GRCm39)	L4731Q	unknown	Het
Loxhd1	A	T	18: 77,427,845 (GRCm39)	I472F	possibly damaging	Het
Lrp2	C	A	2: 69,339,713 (GRCm39)	C1066F	probably damaging	Het
Mllt10	T	A	2: 18,114,637 (GRCm39)	F114I	probably damaging	Het
N4bp1	T	C	8: 87,587,636 (GRCm39)	E434G	probably benign	Het
N6amt1	T	C	16: 87,151,228 (GRCm39)	F30L	probably damaging	Het
Naca	G	A	10: 127,877,400 (GRCm39)	V811I	unknown	Het
Nobox	A	C	6: 43,282,101 (GRCm39)	I324S	possibly damaging	Het
Nup210l	T	C	3: 90,043,365 (GRCm39)	S442P	probably benign	Het
Or6c2	A	T	10: 129,362,809 (GRCm39)	T238S	probably damaging	Het
Osbpl1a	A	T	18: 13,038,099 (GRCm39)	L284Q	probably damaging	Het
Pals1	A	T	12: 78,867,625 (GRCm39)	Q336L	probably benign	Het
Pcdhb20	A	C	18: 37,639,226 (GRCm39)	Y584S	possibly damaging	Het
Pgpep1l	A	T	7: 67,887,519 (GRCm39)	F27Y	probably benign	Het
Pik3cg	T	G	12: 32,245,687 (GRCm39)	I854L	probably benign	Het
Pot1a	C	T	6: 25,771,535 (GRCm39)	V229M	possibly damaging	Het
Prh1	C	T	6: 132,548,822 (GRCm39)	P110S	unknown	Het
Prkag3	C	T	1: 74,786,366 (GRCm39)	C193Y	probably damaging	Het
Prl2c5	T	C	13: 13,360,539 (GRCm39)	F69L	probably benign	Het
Ptprq	T	C	10: 107,444,294 (GRCm39)	T1437A	probably benign	Het
Rabgap1	T	C	2: 37,427,317 (GRCm39)	Y633H	probably damaging	Het
Rad54l2	G	A	9: 106,590,701 (GRCm39)	T475I	possibly damaging	Het
Rps6kb1	G	T	11: 86,426,262 (GRCm39)	H56N	probably benign	Het
Sars2	A	G	7: 28,449,710 (GRCm39)	H385R	probably damaging	Het
Sbpl	T	G	17: 24,172,244 (GRCm39)	N225T	unknown	Het
Scml4	T	C	10: 42,806,602 (GRCm39)		probably null	Het
Scrib	G	A	15: 75,937,940 (GRCm39)	T302M	probably benign	Het
Sdk2	G	A	11: 113,717,915 (GRCm39)	T1483I	possibly damaging	Het
Sh3bgrl3	A	G	4: 133,855,390 (GRCm39)	S19P	probably damaging	Het
Slc10a6	C	T	5: 103,760,327 (GRCm39)	V223I	probably benign	Het
Slc4a3	A	G	1: 75,532,589 (GRCm39)	T950A	probably benign	Het
Spats2	A	T	15: 99,064,961 (GRCm39)	D9V	possibly damaging	Het
Sphk1	A	T	11: 116,425,904 (GRCm39)		probably null	Het
Tex10	A	T	4: 48,431,066 (GRCm39)	S897R	probably benign	Het
Tmco3	T	C	8: 13,353,873 (GRCm39)	V395A	probably damaging	Het
Ttc7b	A	G	12: 100,350,432 (GRCm39)	L478P	probably damaging	Het
Ubac2	T	C	14: 122,220,717 (GRCm39)	M184T	probably benign	Het
Wdr95	T	C	5: 149,511,598 (GRCm39)	S433P	probably damaging	Het
Zfp202	T	A	9: 40,122,538 (GRCm39)	H433Q	probably benign	Het
Zfp526	G	T	7: 24,924,737 (GRCm39)	R332L	probably damaging	Het

Other mutations in Retreg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02118:Retreg1	APN	15	25,966,709 (GRCm39)	splice site	probably null
IGL02548:Retreg1	APN	15	25,895,204 (GRCm39)	nonsense	probably null
R0834:Retreg1	UTSW	15	25,971,756 (GRCm39)	missense	probably benign	0.01
R1923:Retreg1	UTSW	15	25,969,924 (GRCm39)	missense	probably damaging	1.00
R1965:Retreg1	UTSW	15	25,970,250 (GRCm39)	missense	probably damaging	1.00
R4444:Retreg1	UTSW	15	25,968,530 (GRCm39)	splice site	probably null
R4529:Retreg1	UTSW	15	25,968,600 (GRCm39)	missense	probably damaging	1.00
R4778:Retreg1	UTSW	15	25,971,871 (GRCm39)	missense	possibly damaging	0.60
R5026:Retreg1	UTSW	15	25,970,214 (GRCm39)	missense	probably damaging	1.00
R5103:Retreg1	UTSW	15	25,968,540 (GRCm39)	nonsense	probably null
R6880:Retreg1	UTSW	15	25,971,825 (GRCm39)	missense	probably damaging	1.00
R7275:Retreg1	UTSW	15	25,971,684 (GRCm39)	missense	probably benign	0.44
R7357:Retreg1	UTSW	15	25,972,029 (GRCm39)	missense	probably damaging	0.97
R7488:Retreg1	UTSW	15	25,889,628 (GRCm39)	missense
R7542:Retreg1	UTSW	15	25,941,296 (GRCm39)	start codon destroyed	probably null	0.10
R7599:Retreg1	UTSW	15	25,971,727 (GRCm39)	missense	probably benign	0.04
R7670:Retreg1	UTSW	15	25,941,126 (GRCm39)	intron	probably benign
R8022:Retreg1	UTSW	15	25,843,565 (GRCm39)	missense
R8734:Retreg1	UTSW	15	25,968,493 (GRCm39)	missense	probably damaging	1.00
R9123:Retreg1	UTSW	15	25,968,618 (GRCm39)	missense	probably damaging	0.99
R9125:Retreg1	UTSW	15	25,968,618 (GRCm39)	missense	probably damaging	0.99
R9765:Retreg1	UTSW	15	25,940,985 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATCCCCTGGAAAGCAAACATTTG -3'
(R):5'- CGGGAGCACATTTTAAACTGAAG -3'

Sequencing Primer
(F):5'- TTACAGGGAAGCACTGG -3'
(R):5'- GGAGCACATTTTAAACTGAAGAAACC -3'

Posted On

2020-06-30