Mutagenetix > Incidental Mutation

Incidental Mutation 'R9123:Retreg1'

693046

Institutional Source

Beutler Lab

Gene Symbol

Retreg1

Ensembl Gene

ENSMUSG00000022270

Gene Name

reticulophagy regulator 1

Synonyms

Fam134b, 1810015C04Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9123 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25843266-25973773 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25968618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 125 (R125C)

Ref Sequence

ENSEMBL: ENSMUSP00000106068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022881] [ENSMUST00000110438] [ENSMUST00000226438] [ENSMUST00000226750] [ENSMUST00000227275] [ENSMUST00000228306] [ENSMUST00000228327] [ENSMUST00000228600]

AlphaFold

Q8VE91

Predicted Effect

SMART Domains

Protein: ENSMUSP00000022881
Gene: ENSMUSG00000022270
AA Change: R249C

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 damaging
Transcript: ENSMUST00000110438
AA Change: R125C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106068
Gene: ENSMUSG00000022270
AA Change: R125C

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 damaging
Transcript: ENSMUST00000226438
AA Change: R133C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000226750

Predicted Effect

probably damaging
Transcript: ENSMUST00000227275
AA Change: R125C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228306
AA Change: R115C

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000228600

Meta Mutation Damage Score

0.1333

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	A	17: 84,976,425 (GRCm39)	H471Y	probably damaging	Het
Ank2	T	A	3: 126,733,744 (GRCm39)	D622V	probably damaging	Het
Apoe	T	A	7: 19,432,375 (GRCm39)		probably benign	Het
Asz1	T	C	6: 18,054,561 (GRCm39)	E414G	probably benign	Het
Atp2a2	A	T	5: 122,604,918 (GRCm39)	C420*	probably null	Het
Cd84	A	T	1: 171,712,153 (GRCm39)		probably null	Het
Cdca2	T	A	14: 67,917,762 (GRCm39)	R545S	probably benign	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cib1	T	C	7: 79,877,751 (GRCm39)	D182G	probably damaging	Het
Cpsf2	A	G	12: 101,963,555 (GRCm39)	D428G	probably damaging	Het
Cspg4b	C	T	13: 113,505,374 (GRCm39)	P2168S		Het
Dap3	T	A	3: 88,837,861 (GRCm39)	T130S	probably benign	Het
Ddb2	T	A	2: 91,064,593 (GRCm39)	K106*	probably null	Het
Ehd2	G	A	7: 15,684,626 (GRCm39)	A391V	probably damaging	Het
Evpl	A	T	11: 116,115,008 (GRCm39)	I894N	possibly damaging	Het
Gabrb2	A	G	11: 42,482,693 (GRCm39)	T184A	probably damaging	Het
Gfpt1	G	A	6: 87,053,248 (GRCm39)	V403I	probably benign	Het
Gli1	A	G	10: 127,167,202 (GRCm39)	S684P	possibly damaging	Het
Gm7276	A	G	18: 77,273,147 (GRCm39)	S196P	unknown	Het
Hoxc10	C	T	15: 102,875,810 (GRCm39)	P173L	probably benign	Het
Hrnr	A	G	3: 93,238,863 (GRCm39)	N3034D	unknown	Het
Kif2c	A	T	4: 117,024,291 (GRCm39)	S359T	probably benign	Het
Lmln	T	G	16: 32,930,202 (GRCm39)	L553R	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mettl1	T	A	10: 126,880,911 (GRCm39)	V191D	possibly damaging	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Myl1	A	T	1: 66,973,675 (GRCm39)		probably null	Het
Nfat5	A	G	8: 108,078,141 (GRCm39)	T427A	probably damaging	Het
Noa1	T	C	5: 77,457,038 (GRCm39)	Y289C	possibly damaging	Het
Or5d14	C	T	2: 87,880,294 (GRCm39)	V225M	probably damaging	Het
Or8b49	T	A	9: 38,506,108 (GRCm39)	I197K	probably damaging	Het
Piezo2	A	G	18: 63,178,589 (GRCm39)	I1776T	probably benign	Het
Ppp1r7	A	G	1: 93,285,497 (GRCm39)	I246V	probably benign	Het
Ppp4c	T	A	7: 126,386,739 (GRCm39)	E116V	probably damaging	Het
Psme2	T	A	14: 55,828,302 (GRCm39)	K15N	possibly damaging	Het
Rnf145	G	T	11: 44,450,819 (GRCm39)	R381L	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,771,229 (GRCm39)	T2604I	probably damaging	Het
Sag	T	C	1: 87,751,043 (GRCm39)	S170P	probably damaging	Het
Sema3b	T	A	9: 107,478,173 (GRCm39)	N404I	possibly damaging	Het
Serpina1b	A	T	12: 103,696,566 (GRCm39)	L281Q	probably damaging	Het
Slc22a1	T	A	17: 12,878,598 (GRCm39)	T372S	probably benign	Het
Slco6d1	A	T	1: 98,423,919 (GRCm39)	N524Y	probably damaging	Het
Smarca2	T	A	19: 26,693,583 (GRCm39)	D1262E	possibly damaging	Het
Syne2	A	T	12: 76,040,838 (GRCm39)	H3832L	probably damaging	Het
Tarbp1	G	T	8: 127,174,202 (GRCm39)	T868K	possibly damaging	Het
Trp63	C	T	16: 25,639,247 (GRCm39)	A145V	probably damaging	Het
Tsc2	C	T	17: 24,823,802 (GRCm39)	R1001K	probably null	Het
Ttc39b	T	C	4: 83,189,444 (GRCm39)	D30G	probably damaging	Het
Usf3	A	G	16: 44,041,030 (GRCm39)	T1837A	probably benign	Het
Usp25	T	A	16: 76,911,969 (GRCm39)		probably null	Het
Vmn1r27	G	A	6: 58,192,416 (GRCm39)	T196I	probably benign	Het
Vrk3	C	T	7: 44,407,254 (GRCm39)	S75F	possibly damaging	Het
Washc5	T	C	15: 59,209,134 (GRCm39)	Y1030C	probably damaging	Het
Wdr47	T	C	3: 108,526,106 (GRCm39)	F210L	probably damaging	Het
Zfp853	G	A	5: 143,274,496 (GRCm39)	Q390*	probably null	Het
Zfyve9	A	T	4: 108,575,760 (GRCm39)	D440E	probably benign	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
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
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'- GCATTCAGAACGAACACTTTACCTG -3'
(R):5'- GACTTCAGGACTGCCATCTTTC -3'

Sequencing Primer
(F):5'- ATACAGCAAAGTCAAGTCC -3'
(R):5'- TAGGGTGATTATAGCCATGCCCC -3'

Posted On

2022-01-20