Mutagenetix > Incidental Mutation

Incidental Mutation 'R0143:Retreg2'

22415

Institutional Source

Beutler Lab

Gene Symbol

Retreg2

Ensembl Gene

ENSMUSG00000049339

Gene Name

reticulophagy regulator family member 2

Synonyms

MGC47289, Fam134a

MMRRC Submission

038428-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R0143 (G1)

Quality Score

186

Status

Validated (trace)

Chromosome

Chromosomal Location

75119422-75124557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75123074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 334 (D334G)

Ref Sequence

ENSEMBL: ENSMUSP00000095300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041213] [ENSMUST00000097694] [ENSMUST00000168720] [ENSMUST00000187901] [ENSMUST00000188873] [ENSMUST00000190240] [ENSMUST00000189809] [ENSMUST00000189650] [ENSMUST00000189403] [ENSMUST00000190679]

AlphaFold

Q6NS82

Predicted Effect

probably benign
Transcript: ENSMUST00000041213

SMART Domains

Protein: ENSMUSP00000044799
Gene: ENSMUSG00000033159

Domain	Start	End	E-Value	Type
Pfam:Cyclin	72	174	7.5e-10	PFAM
low complexity region	231	252	N/A	INTRINSIC
low complexity region	256	268	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097694
AA Change: D334G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095300
Gene: ENSMUSG00000049339
AA Change: D334G

Domain	Start	End	E-Value	Type
low complexity region	1	28	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
low complexity region	84	114	N/A	INTRINSIC
transmembrane domain	198	220	N/A	INTRINSIC
low complexity region	269	283	N/A	INTRINSIC
low complexity region	453	491	N/A	INTRINSIC
low complexity region	506	520	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168720

SMART Domains

Protein: ENSMUSP00000132688
Gene: ENSMUSG00000033159

Domain	Start	End	E-Value	Type
Pfam:Cyclin	49	174	5.2e-13	PFAM
Pfam:Cyclin_N	55	175	4.4e-6	PFAM
low complexity region	231	252	N/A	INTRINSIC
low complexity region	256	268	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000186037
AA Change: D282G

Predicted Effect

probably benign
Transcript: ENSMUST00000187901

SMART Domains

Protein: ENSMUSP00000140636
Gene: ENSMUSG00000049339

Domain	Start	End	E-Value	Type
low complexity region	12	39	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188873

SMART Domains

Protein: ENSMUSP00000139508
Gene: ENSMUSG00000049339

Domain	Start	End	E-Value	Type
low complexity region	1	28	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
low complexity region	84	114	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188977

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190240
AA Change: D334G

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139410
Gene: ENSMUSG00000049339
AA Change: D334G

Domain	Start	End	E-Value	Type
low complexity region	1	28	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
Pfam:Reticulon	65	231	1.4e-8	PFAM
low complexity region	269	283	N/A	INTRINSIC
low complexity region	435	454	N/A	INTRINSIC
low complexity region	469	483	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189809

SMART Domains

Protein: ENSMUSP00000140262
Gene: ENSMUSG00000033159

Domain	Start	End	E-Value	Type
Blast:CYCLIN	81	114	1e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000189650

SMART Domains

Protein: ENSMUSP00000139473
Gene: ENSMUSG00000049339

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	45	75	N/A	INTRINSIC
low complexity region	123	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189345

Predicted Effect

probably benign
Transcript: ENSMUST00000189403

SMART Domains

Protein: ENSMUSP00000141062
Gene: ENSMUSG00000033159

Domain	Start	End	E-Value	Type
Pfam:Cyclin	44	170	1.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190679

SMART Domains

Protein: ENSMUSP00000140289
Gene: ENSMUSG00000033159

Domain	Start	End	E-Value	Type
Pfam:Cyclin	49	174	5.2e-13	PFAM
Pfam:Cyclin_N	55	175	4.4e-6	PFAM
low complexity region	231	252	N/A	INTRINSIC
low complexity region	256	268	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC

Meta Mutation Damage Score

0.1035

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,988,288 (GRCm39)	I145N	probably benign	Het
Ankrd1	G	A	19: 36,096,713 (GRCm39)	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,576,268 (GRCm39)	E500G	probably damaging	Het
Arhgef12	T	C	9: 42,916,890 (GRCm39)	T419A	probably damaging	Het
B3galt2	A	T	1: 143,523,072 (GRCm39)	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
C4b	G	A	17: 34,953,193 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,324,693 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,237,857 (GRCm39)	V17A	probably benign	Het
Cog7	A	T	7: 121,550,387 (GRCm39)	L379Q	probably damaging	Het
Cul9	T	C	17: 46,837,336 (GRCm39)	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,493,071 (GRCm39)	D258N	probably damaging	Het
Ddx39a	T	C	8: 84,447,179 (GRCm39)	V113A	probably benign	Het
Dennd4b	A	T	3: 90,179,671 (GRCm39)	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,413,640 (GRCm39)	T334A	probably benign	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Dtx4	G	A	19: 12,463,846 (GRCm39)	T312I	probably damaging	Het
Dusp18	C	T	11: 3,847,243 (GRCm39)	R78C	probably benign	Het
Fes	A	C	7: 80,033,643 (GRCm39)	F203V	probably benign	Het
Fhad1	C	A	4: 141,656,957 (GRCm39)		probably benign	Het
Gjb2	T	C	14: 57,337,526 (GRCm39)		silent	Het
Gm5828	T	C	1: 16,838,579 (GRCm39)		noncoding transcript	Het
Gsdma	A	C	11: 98,557,080 (GRCm39)	E65A	probably damaging	Het
Hck	T	A	2: 152,976,140 (GRCm39)		probably null	Het
Henmt1	A	T	3: 108,861,118 (GRCm39)	H47L	probably damaging	Het
Hivep2	T	C	10: 14,005,099 (GRCm39)	F566L	probably damaging	Het
Hnrnpl	T	C	7: 28,513,617 (GRCm39)		probably benign	Het
Igsf3	T	C	3: 101,342,917 (GRCm39)	I518T	probably damaging	Het
Ireb2	T	C	9: 54,793,193 (GRCm39)	F223L	probably benign	Het
Isoc2a	T	C	7: 4,894,331 (GRCm39)		probably null	Het
Krt73	T	A	15: 101,709,208 (GRCm39)	R200W	probably damaging	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrp1	A	G	10: 127,429,811 (GRCm39)	F420L	probably damaging	Het
Mep1b	T	C	18: 21,228,164 (GRCm39)		probably benign	Het
Mex3a	G	T	3: 88,443,562 (GRCm39)	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558 (GRCm39)	F218L	probably damaging	Het
Ncf1	G	T	5: 134,255,991 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,053,433 (GRCm39)	D2032G	probably damaging	Het
Or10h28	T	C	17: 33,488,471 (GRCm39)	S258P	probably damaging	Het
Or5p1	A	G	7: 107,916,202 (GRCm39)	I34V	probably benign	Het
Or9i1b	A	C	19: 13,896,614 (GRCm39)	I77L	probably damaging	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Pex5	A	T	6: 124,375,448 (GRCm39)	W525R	probably damaging	Het
Plcb4	T	A	2: 135,818,131 (GRCm39)	I799N	probably damaging	Het
Poldip3	G	A	15: 83,012,144 (GRCm39)	L372F	probably damaging	Het
Polg2	C	A	11: 106,668,352 (GRCm39)	V174L	probably benign	Het
Prrt4	C	G	6: 29,170,670 (GRCm39)	G594A	probably damaging	Het
Prss1	A	G	6: 41,440,522 (GRCm39)	D199G	probably damaging	Het
Rbms2	T	A	10: 127,973,823 (GRCm39)	Q207L	probably benign	Het
Slc6a15	T	G	10: 103,253,929 (GRCm39)	C622G	probably benign	Het
Spdya	T	A	17: 71,865,635 (GRCm39)	D84E	probably damaging	Het
Stat3	A	T	11: 100,785,982 (GRCm39)	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,695,088 (GRCm39)	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,651 (GRCm39)		probably benign	Het
Tnrc6c	A	C	11: 117,643,811 (GRCm39)	N1481H	probably damaging	Het
Top3b	T	C	16: 16,701,389 (GRCm39)	S234P	probably damaging	Het
Tor1aip2	A	T	1: 155,935,294 (GRCm39)	T10S	probably benign	Het
Tpsab1	T	A	17: 25,562,418 (GRCm39)	H303L	probably benign	Het
Traf3	T	A	12: 111,228,010 (GRCm39)	V407D	probably damaging	Het
Trim33	T	A	3: 103,259,417 (GRCm39)	D1035E	probably benign	Het
Ttc38	T	C	15: 85,737,920 (GRCm39)	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,439,914 (GRCm39)	R646H	possibly damaging	Het
Usp8	C	A	2: 126,597,009 (GRCm39)		probably benign	Het
Zdbf2	A	T	1: 63,347,233 (GRCm39)	I1871F	probably benign	Het
Zfp345	T	A	2: 150,314,475 (GRCm39)	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402 (GRCm39)		probably benign	Het
Zfp81	G	A	17: 33,554,095 (GRCm39)	H240Y	possibly damaging	Het
Zfp830	A	G	11: 82,655,994 (GRCm39)	D266G	possibly damaging	Het

Other mutations in Retreg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Retreg2	APN	1	75,121,749 (GRCm39)	critical splice donor site	probably null
IGL01625:Retreg2	APN	1	75,121,359 (GRCm39)	unclassified	probably benign
R1248:Retreg2	UTSW	1	75,121,755 (GRCm39)	unclassified	probably benign
R1446:Retreg2	UTSW	1	75,120,103 (GRCm39)	missense	possibly damaging	0.69
R1463:Retreg2	UTSW	1	75,123,164 (GRCm39)	missense	probably damaging	0.98
R1734:Retreg2	UTSW	1	75,119,630 (GRCm39)	splice site	probably null
R1851:Retreg2	UTSW	1	75,123,319 (GRCm39)	missense	probably benign	0.00
R1852:Retreg2	UTSW	1	75,123,319 (GRCm39)	missense	probably benign	0.00
R2883:Retreg2	UTSW	1	75,123,356 (GRCm39)	missense	probably benign	0.01
R3027:Retreg2	UTSW	1	75,123,088 (GRCm39)	missense	probably damaging	0.99
R4665:Retreg2	UTSW	1	75,121,310 (GRCm39)	missense	probably damaging	1.00
R5497:Retreg2	UTSW	1	75,121,633 (GRCm39)	missense	probably damaging	1.00
R5544:Retreg2	UTSW	1	75,121,333 (GRCm39)	makesense	probably null
R6143:Retreg2	UTSW	1	75,123,530 (GRCm39)	missense	probably damaging	1.00
R6881:Retreg2	UTSW	1	75,123,083 (GRCm39)	missense	probably damaging	1.00
R7576:Retreg2	UTSW	1	75,121,332 (GRCm39)	missense	probably damaging	0.99
R7822:Retreg2	UTSW	1	75,123,185 (GRCm39)	missense	possibly damaging	0.63
R8826:Retreg2	UTSW	1	75,119,525 (GRCm39)	missense	unknown
Z1176:Retreg2	UTSW	1	75,122,387 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGGTATGAGCAGTCTTTTGCCTCTC -3'
(R):5'- GCTGAAGCAAGGCTTCCTTGTCTG -3'

Sequencing Primer
(F):5'- cccctggaactggagttg -3'
(R):5'- GCAGCCCCCTCCTCTTC -3'

Posted On

2013-04-16