Mutagenetix > Incidental Mutation

Incidental Mutation 'R7275:Retreg1'

565537

Institutional Source

Beutler Lab

Gene Symbol

Retreg1

Ensembl Gene

ENSMUSG00000022270

Gene Name

reticulophagy regulator 1

Synonyms

Fam134b, 1810015C04Rik

MMRRC Submission

045358-MU

Accession Numbers

Essential gene?

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

Stock #

R7275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25843266-25973773 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25971684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 208 (D208G)

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: D332G

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: D208G

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106068
Gene: ENSMUSG00000022270
AA Change: D208G

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

possibly damaging
Transcript: ENSMUST00000226438
AA Change: D216G

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000227275
AA Change: D208G

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000228306
AA Change: D198G

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000228327

Predicted Effect

probably benign
Transcript: ENSMUST00000228600

Meta Mutation Damage Score

0.0902

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (64/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	A	12: 72,956,795 (GRCm39)	T132S	possibly damaging	Het
4933412E24Rik	A	G	15: 59,887,738 (GRCm39)	V234A	probably benign	Het
Abtb3	T	A	10: 85,490,346 (GRCm39)	L1004Q	probably damaging	Het
Acsm5	A	G	7: 119,136,511 (GRCm39)	T361A	possibly damaging	Het
Agxt2	G	A	15: 10,358,753 (GRCm39)	R24H	probably benign	Het
Asb16	G	T	11: 102,159,935 (GRCm39)	W96L	probably damaging	Het
Bche	T	A	3: 73,607,969 (GRCm39)	T486S	probably benign	Het
Bpnt2	C	A	4: 4,792,962 (GRCm39)	G48W	probably damaging	Het
Cast	T	C	13: 74,875,453 (GRCm39)	T382A	probably benign	Het
Cdcp1	T	A	9: 123,014,119 (GRCm39)	K218N	possibly damaging	Het
Ceacam18	G	A	7: 43,291,308 (GRCm39)	G250D	probably damaging	Het
Ciao3	T	A	17: 25,994,108 (GRCm39)	V52E	possibly damaging	Het
Ctnnd2	T	C	15: 30,905,855 (GRCm39)	I834T	possibly damaging	Het
Cyp11b2	C	A	15: 74,725,840 (GRCm39)	G136W	probably damaging	Het
Dis3	A	G	14: 99,324,925 (GRCm39)	V502A	probably damaging	Het
Dnai2	T	A	11: 114,648,054 (GRCm39)	M610K	unknown	Het
Drosha	G	A	15: 12,846,169 (GRCm39)	V435I	possibly damaging	Het
Dsc2	T	A	18: 20,184,236 (GRCm39)	R51*	probably null	Het
Ergic2	A	T	6: 148,096,757 (GRCm39)	C170S	probably damaging	Het
Exoc7	A	T	11: 116,195,688 (GRCm39)		probably null	Het
Fbxw25	G	T	9: 109,483,660 (GRCm39)	A184E		Het
Gm4846	T	A	1: 166,314,648 (GRCm39)	T332S	probably benign	Het
Greb1l	T	A	18: 10,544,561 (GRCm39)	M1385K	probably benign	Het
Grik1	T	C	16: 87,709,708 (GRCm39)	N871S	probably benign	Het
Il11ra1	T	C	4: 41,765,109 (GRCm39)	L145P	probably damaging	Het
Inpp5e	A	G	2: 26,298,104 (GRCm39)	S166P	probably benign	Het
Kdm4b	T	A	17: 56,703,333 (GRCm39)	L676H	probably damaging	Het
Lrp2	T	A	2: 69,289,875 (GRCm39)	K3655*	probably null	Het
Lrrc74a	A	G	12: 86,787,753 (GRCm39)	N128S	probably damaging	Het
Map3k14	T	C	11: 103,117,848 (GRCm39)	E648G	probably damaging	Het
Mbtps1	A	T	8: 120,269,489 (GRCm39)	D200E	probably benign	Het
Mttp	T	C	3: 137,829,546 (GRCm39)	D114G	probably benign	Het
Mup13	G	A	4: 61,182,752 (GRCm39)	T101M	probably benign	Het
Neb	T	A	2: 52,096,956 (GRCm39)	T4953S	probably benign	Het
Nfasc	A	C	1: 132,562,001 (GRCm39)	L147R	probably damaging	Het
Obox6	T	C	7: 15,567,805 (GRCm39)	E214G	probably benign	Het
Opn3	T	C	1: 175,493,039 (GRCm39)	N175S	probably damaging	Het
Or1j12	A	T	2: 36,342,851 (GRCm39)	M85L	probably benign	Het
Or8g22	T	A	9: 38,958,815 (GRCm39)		probably benign	Het
Or8k22	C	A	2: 86,163,136 (GRCm39)	C188F	possibly damaging	Het
Osbpl3	G	T	6: 50,323,410 (GRCm39)	D224E	probably benign	Het
Osr2	A	G	15: 35,301,032 (GRCm39)	D196G	probably damaging	Het
Pde8b	T	A	13: 95,179,442 (GRCm39)	N405Y	probably damaging	Het
Pirb	A	G	7: 3,719,177 (GRCm39)	S571P	probably benign	Het
Psmc3	T	A	2: 90,886,275 (GRCm39)	I163N	probably damaging	Het
Rapgef4	A	G	2: 72,038,445 (GRCm39)	D532G	probably damaging	Het
Rgsl1	T	G	1: 153,679,876 (GRCm39)		probably null	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Slc30a2	T	A	4: 134,076,581 (GRCm39)		probably null	Het
Slc6a19	T	C	13: 73,834,197 (GRCm39)	D335G	probably benign	Het
Slco4c1	G	A	1: 96,799,497 (GRCm39)	T113M	probably benign	Het
Speer1c	T	C	5: 10,295,192 (GRCm39)	N71D		Het
Stxbp6	A	G	12: 44,948,786 (GRCm39)	F108L	probably benign	Het
Sulf1	T	A	1: 12,921,189 (GRCm39)		probably null	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Tbc1d19	T	A	5: 54,029,618 (GRCm39)	D326E	probably damaging	Het
Trappc14	T	C	5: 138,261,839 (GRCm39)	S86G	probably benign	Het
Trgv3	A	G	13: 19,427,188 (GRCm39)	T24A	probably benign	Het
Trpm3	T	A	19: 22,956,048 (GRCm39)	M1170K	possibly damaging	Het
Tubgcp6	G	A	15: 88,987,146 (GRCm39)	Q1276*	probably null	Het
Tyrp1	A	G	4: 80,755,821 (GRCm39)	K197E	possibly damaging	Het
Ube3d	T	C	9: 86,322,679 (GRCm39)	D165G	probably damaging	Het
Zfp212	A	G	6: 47,897,678 (GRCm39)	T7A	probably benign	Het
Zhx1	T	C	15: 57,917,758 (GRCm39)	T163A	probably benign	Het
Zp2	A	T	7: 119,734,576 (GRCm39)		probably null	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
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'- TGGAGAGATACTGCCATCGATTC -3'
(R):5'- TCAAGTGAAGGGCTTGGTCG -3'

Sequencing Primer
(F):5'- CGATTCAGCAGGAGTCTATTACG -3'
(R):5'- TCGCTCTTGAGAGGAAGTGAG -3'

Posted On

2019-06-26