Mutagenetix > Incidental Mutation

Incidental Mutation 'R0834:Retreg1'

77764

Institutional Source

Beutler Lab

Gene Symbol

Retreg1

Ensembl Gene

ENSMUSG00000022270

Gene Name

reticulophagy regulator 1

Synonyms

Fam134b, 1810015C04Rik

MMRRC Submission

039013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25843266-25973773 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25971756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 356 (L356P)

Ref Sequence

ENSEMBL: ENSMUSP00000022881 (fasta)

Gene Model

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

AlphaFold

Q8VE91

Predicted Effect

probably benign
Transcript: ENSMUST00000022881
AA Change: L356P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000022881
Gene: ENSMUSG00000022270
AA Change: L356P

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: L232P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106068
Gene: ENSMUSG00000022270
AA Change: L232P

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: L240P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000227275
AA Change: L232P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000228306
AA Change: L222P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228327

Predicted Effect

probably benign
Transcript: ENSMUST00000228600

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (86/86)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,063,899 (GRCm39)	E66V	probably damaging	Het
Aldh1a3	T	C	7: 66,062,658 (GRCm39)	I156V	probably benign	Het
Ang4	T	A	14: 52,001,725 (GRCm39)	K74N	probably benign	Het
Arcn1	A	T	9: 44,670,172 (GRCm39)		probably benign	Het
Arhgef33	T	A	17: 80,655,026 (GRCm39)		probably benign	Het
Atn1	A	G	6: 124,720,188 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,185 (GRCm39)	H359R	probably damaging	Het
Bmerb1	T	C	16: 13,911,795 (GRCm39)	L47P	probably damaging	Het
Brip1	T	C	11: 86,083,653 (GRCm39)	T123A	probably benign	Het
Camkv	A	G	9: 107,823,045 (GRCm39)	Y95C	probably damaging	Het
Cdk12	T	A	11: 98,095,211 (GRCm39)	S340T	probably benign	Het
Ckap2l	G	A	2: 129,138,224 (GRCm39)		probably benign	Het
Clmn	A	T	12: 104,738,085 (GRCm39)	L1042Q	probably damaging	Het
Clmn	G	T	12: 104,738,086 (GRCm39)	L1042M	probably damaging	Het
Cluh	T	C	11: 74,554,631 (GRCm39)	V737A	probably benign	Het
Cpne8	A	G	15: 90,424,462 (GRCm39)	V309A	probably benign	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,747,073 (GRCm39)		probably benign	Het
Ctr9	T	A	7: 110,650,159 (GRCm39)	S818T	probably benign	Het
Cyp26a1	C	T	19: 37,688,405 (GRCm39)	A309V	probably damaging	Het
Dbndd2	C	T	2: 164,332,122 (GRCm39)	T115I	possibly damaging	Het
Dhcr7	A	G	7: 143,394,964 (GRCm39)	N157S	probably benign	Het
Dlx2	C	A	2: 71,375,859 (GRCm39)	V155F	probably damaging	Het
Duox1	A	T	2: 122,176,982 (GRCm39)	I1470F	probably damaging	Het
Esrrb	A	T	12: 86,517,071 (GRCm39)	I68F	probably benign	Het
Fhod3	T	A	18: 25,248,862 (GRCm39)	L1347*	probably null	Het
Fip1l1	T	C	5: 74,755,721 (GRCm39)		probably benign	Het
Frem3	A	G	8: 81,413,637 (GRCm39)	Y1966C	probably damaging	Het
Gatd3a	T	C	10: 77,998,539 (GRCm39)	D229G	probably damaging	Het
Ggt5	C	T	10: 75,440,604 (GRCm39)	R242C	possibly damaging	Het
Gm14496	G	A	2: 181,637,480 (GRCm39)	V185I	probably benign	Het
Gnptab	T	C	10: 88,265,814 (GRCm39)	V409A	probably damaging	Het
Gramd1a	A	G	7: 30,837,589 (GRCm39)	F390S	possibly damaging	Het
Helz2	A	G	2: 180,872,570 (GRCm39)	S2477P	probably damaging	Het
Hsd17b3	T	C	13: 64,236,936 (GRCm39)	K3E	probably benign	Het
Ift172	T	C	5: 31,414,715 (GRCm39)	H1395R	probably benign	Het
Jam2	T	A	16: 84,609,855 (GRCm39)	C180S	probably damaging	Het
Kalrn	A	C	16: 33,870,289 (GRCm39)	S160A	possibly damaging	Het
Kcnk3	T	C	5: 30,779,979 (GRCm39)	I343T	probably damaging	Het
Kif13a	T	C	13: 46,967,712 (GRCm39)	E334G	probably damaging	Het
Klhl41	A	G	2: 69,508,491 (GRCm39)	K482E	possibly damaging	Het
Lig3	A	G	11: 82,689,113 (GRCm39)	E794G	probably damaging	Het
Myh13	T	C	11: 67,240,436 (GRCm39)	M780T	possibly damaging	Het
Ndst2	A	G	14: 20,779,761 (GRCm39)	Y160H	probably damaging	Het
Ndufb10	T	C	17: 24,941,648 (GRCm39)	M90V	probably damaging	Het
Obscn	T	C	11: 59,024,104 (GRCm39)	K522R	probably benign	Het
Olfml2b	T	C	1: 170,475,413 (GRCm39)	S113P	probably benign	Het
Or14a257	T	A	7: 86,138,698 (GRCm39)	E20D	probably benign	Het
Or4a78	A	G	2: 89,497,423 (GRCm39)	I269T	probably benign	Het
Or4d10b	T	A	19: 12,036,979 (GRCm39)	M46L	probably benign	Het
Or51v14	T	C	7: 103,261,444 (GRCm39)	T39A	probably benign	Het
Or6k2	T	A	1: 173,986,930 (GRCm39)	M197K	possibly damaging	Het
Parg	T	C	14: 31,936,511 (GRCm39)		probably benign	Het
Pde7a	C	T	3: 19,284,482 (GRCm39)	C367Y	probably damaging	Het
Pigr	T	A	1: 130,772,281 (GRCm39)	C166*	probably null	Het
Pip4k2c	A	T	10: 127,036,704 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prkd2	A	T	7: 16,599,602 (GRCm39)		probably benign	Het
Ptprt	G	T	2: 161,654,059 (GRCm39)		probably null	Het
Rapgef5	C	T	12: 117,610,741 (GRCm39)		probably benign	Het
Rigi	T	A	4: 40,239,596 (GRCm39)	E34V	possibly damaging	Het
Rnf43	A	G	11: 87,622,077 (GRCm39)	T393A	probably benign	Het
Samd3	T	C	10: 26,147,725 (GRCm39)	S467P	probably benign	Het
Scarf1	C	A	11: 75,405,229 (GRCm39)	C89*	probably null	Het
Sdk1	T	C	5: 141,227,779 (GRCm39)	L59S	probably benign	Het
Sgca	C	T	11: 94,861,512 (GRCm39)	W244*	probably null	Het
Sh3d21	T	C	4: 126,045,065 (GRCm39)	K538R	probably benign	Het
Smyd4	T	A	11: 75,281,958 (GRCm39)	L477Q	possibly damaging	Het
Sra1	A	G	18: 36,801,829 (GRCm39)	M87T	probably benign	Het
Ssh2	T	C	11: 77,328,459 (GRCm39)	Y336H	possibly damaging	Het
Steap1	T	C	5: 5,790,357 (GRCm39)	Y197C	probably damaging	Het
Strn3	A	G	12: 51,673,879 (GRCm39)		probably benign	Het
Tgm3	A	G	2: 129,868,677 (GRCm39)	T205A	probably benign	Het
Tll2	G	A	19: 41,101,512 (GRCm39)	T374I	probably damaging	Het
Tmem63b	C	A	17: 45,971,870 (GRCm39)	D782Y	possibly damaging	Het
Trim10	G	A	17: 37,183,283 (GRCm39)	S193N	probably benign	Het
Ttf1	A	T	2: 28,963,962 (GRCm39)	K613*	probably null	Het
Tube1	T	A	10: 39,010,168 (GRCm39)		probably null	Het
Uimc1	T	A	13: 55,224,222 (GRCm39)		probably null	Het
Wwp2	G	T	8: 108,283,428 (GRCm39)		probably benign	Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp292	T	C	4: 34,809,114 (GRCm39)	D1310G	probably benign	Het
Zfp575	A	T	7: 24,285,245 (GRCm39)	L132H	probably damaging	Het
Zmym2	T	C	14: 57,194,420 (GRCm39)	F1226S	probably damaging	Het
Zswim6	A	C	13: 107,862,989 (GRCm39)		noncoding transcript	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
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
R8084:Retreg1	UTSW	15	25,969,885 (GRCm39)	missense	probably benign	0.26
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'- GCTCTGAGGGTTCTGGTCAAAGTC -3'
(R):5'- GGTCTTGTGTTAGTCCCAGCTCAC -3'

Sequencing Primer
(F):5'- GTTCTGGTCAAAGTCACTGTAGAC -3'
(R):5'- CTGCCTGGTCAAGTAGTTCAAAG -3'

Posted On

2013-10-16