Mutagenetix > Incidental Mutation

Incidental Mutation 'R5497:Retreg2'

432390

Institutional Source

Beutler Lab

Gene Symbol

Retreg2

Ensembl Gene

ENSMUSG00000049339

Gene Name

reticulophagy regulator family member 2

Synonyms

MGC47289, Fam134a

MMRRC Submission

043058-MU

Accession Numbers

Essential gene?

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

Stock #

R5497 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75119422-75124557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75121633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 219 (V219I)

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

probably damaging
Transcript: ENSMUST00000097694
AA Change: V219I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095300
Gene: ENSMUSG00000049339
AA Change: V219I

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

probably damaging
Transcript: ENSMUST00000186037
AA Change: V167I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

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: V219I

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139410
Gene: ENSMUSG00000049339
AA Change: V219I

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000189345

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,056,360 (GRCm39)	M800K	probably benign	Het
Abca9	G	A	11: 110,021,518 (GRCm39)	A1064V	probably damaging	Het
Acsm2	A	T	7: 119,172,543 (GRCm39)	T129S	possibly damaging	Het
Adamts9	A	T	6: 92,831,346 (GRCm39)	C755S	probably damaging	Het
Adarb1	T	C	10: 77,161,723 (GRCm39)	D2G	probably damaging	Het
Apaf1	G	A	10: 90,835,518 (GRCm39)	A1098V	probably damaging	Het
Asap3	A	G	4: 135,966,533 (GRCm39)	H537R	probably benign	Het
Atp2a2	C	T	5: 122,596,232 (GRCm39)	C887Y	probably damaging	Het
Atp6v0a1	G	A	11: 100,920,011 (GRCm39)	V215M	probably damaging	Het
Cacng8	A	G	7: 3,464,069 (GRCm39)	E407G	probably benign	Het
Capn8	G	A	1: 182,447,745 (GRCm39)	E535K	probably benign	Het
Cebpe	A	G	14: 54,948,052 (GRCm39)	F264L	probably benign	Het
Ces1c	A	C	8: 93,857,343 (GRCm39)	N79K	possibly damaging	Het
Cfap58	T	G	19: 48,017,548 (GRCm39)	S803A	probably benign	Het
Cpa1	A	G	6: 30,640,729 (GRCm39)	T124A	probably benign	Het
Csmd1	A	G	8: 16,135,195 (GRCm39)	S1654P	probably benign	Het
Dmbt1	A	T	7: 130,665,133 (GRCm39)		probably benign	Het
Eif3e	T	C	15: 43,134,366 (GRCm39)	Y127C	probably damaging	Het
Fhip2a	G	C	19: 57,369,583 (GRCm39)		probably null	Het
Galnt5	T	C	2: 57,915,340 (GRCm39)	M632T	probably damaging	Het
Gja8	A	G	3: 96,827,513 (GRCm39)	S50P	probably damaging	Het
Gon7	A	G	12: 102,720,363 (GRCm39)	S90P	probably benign	Het
Gucy2g	C	T	19: 55,187,133 (GRCm39)	V1096I	probably benign	Het
Gxylt2	A	G	6: 100,764,290 (GRCm39)	N325S	probably benign	Het
H2-Ob	A	G	17: 34,460,144 (GRCm39)	D85G	probably benign	Het
Heatr1	T	A	13: 12,435,945 (GRCm39)	I1161N	possibly damaging	Het
Hjurp	G	A	1: 88,194,042 (GRCm39)	H289Y	possibly damaging	Het
Hsd3b7	A	G	7: 127,401,060 (GRCm39)	Y99C	probably damaging	Het
Ifnar1	T	G	16: 91,302,252 (GRCm39)	Y21D	probably benign	Het
Isoc2b	C	T	7: 4,853,782 (GRCm39)	V131I	probably benign	Het
Klc3	T	C	7: 19,128,595 (GRCm39)	I500V	probably benign	Het
Lrp5	C	A	19: 3,652,319 (GRCm39)	G1184W	probably damaging	Het
Map2k4	A	G	11: 65,626,031 (GRCm39)	I136T	probably damaging	Het
Map3k7	T	C	4: 31,991,719 (GRCm39)	F319S	possibly damaging	Het
Muc5ac	A	G	7: 141,361,380 (GRCm39)	T1564A	probably damaging	Het
Nptx2	A	T	5: 144,492,999 (GRCm39)	D362V	probably damaging	Het
Nutf2-ps1	A	T	19: 53,577,265 (GRCm39)	I52N	probably damaging	Het
Or2aj4	C	T	16: 19,385,080 (GRCm39)	M184I	probably benign	Het
Pkhd1	T	A	1: 20,447,628 (GRCm39)	Y2255F	possibly damaging	Het
Primpol	A	T	8: 47,045,657 (GRCm39)	Y308*	probably null	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rph3a	T	A	5: 121,080,253 (GRCm39)	E675V	probably benign	Het
Ryr2	A	T	13: 11,720,587 (GRCm39)	M2687K	probably null	Het
Shank2	A	G	7: 143,963,271 (GRCm39)	D293G	probably damaging	Het
Snx6	A	G	12: 54,803,846 (GRCm39)	V154A	probably damaging	Het
Srm	G	T	4: 148,678,566 (GRCm39)	Q264H	probably benign	Het
Styk1	A	T	6: 131,281,670 (GRCm39)	I316N	probably damaging	Het
Syne2	A	G	12: 75,927,163 (GRCm39)	N103S	probably benign	Het
Tas2r105	G	A	6: 131,663,805 (GRCm39)		probably null	Het
Tbcel	T	A	9: 42,363,041 (GRCm39)	M1L	possibly damaging	Het
Tlr3	C	T	8: 45,851,851 (GRCm39)	D349N	possibly damaging	Het
Tm9sf3	T	C	19: 41,203,555 (GRCm39)	S574G	probably benign	Het
Usp31	A	T	7: 121,250,824 (GRCm39)	V783E	probably damaging	Het
Vmn2r61	T	A	7: 41,924,906 (GRCm39)	Y487N	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zfp980	A	G	4: 145,428,017 (GRCm39)	K249E	probably 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
R0143:Retreg2	UTSW	1	75,123,074 (GRCm39)	missense	possibly damaging	0.82
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
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'- TTGACCCAAAGGAAAGACTGTG -3'
(R):5'- TGAGCCATACACTACAGGTTCTC -3'

Sequencing Primer
(F):5'- GACCCAAAGGAAAGACTGTGTTTTC -3'
(R):5'- AGGTTCTCCCTGCCTCTC -3'

Posted On

2016-10-05