Mutagenetix > Incidental Mutation

Incidental Mutation 'R6881:Retreg2'

536646

Institutional Source

Beutler Lab

Gene Symbol

Retreg2

Ensembl Gene

ENSMUSG00000049339

Gene Name

reticulophagy regulator family member 2

Synonyms

MGC47289, Fam134a

MMRRC Submission

045030-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75119422-75124557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 75123083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 337 (Q337P)

Ref Sequence

ENSEMBL: ENSMUSP00000139410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041213] [ENSMUST00000097694] [ENSMUST00000168720] [ENSMUST00000187901] [ENSMUST00000188873] [ENSMUST00000189403] [ENSMUST00000189650] [ENSMUST00000189809] [ENSMUST00000190240] [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: Q337P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095300
Gene: ENSMUSG00000049339
AA Change: Q337P

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 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

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: 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: ENSMUST00000189809

SMART Domains

Protein: ENSMUSP00000140262
Gene: ENSMUSG00000033159

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000190240
AA Change: Q337P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139410
Gene: ENSMUSG00000049339
AA Change: Q337P

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: 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

0.0808

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	C	9: 15,202,061 (GRCm39)	C187G	possibly damaging	Het
Abhd16a	C	T	17: 35,315,577 (GRCm39)	T208I	probably benign	Het
Ahcyl1	A	T	3: 107,575,425 (GRCm39)	H425Q	probably damaging	Het
Ankrd22	T	A	19: 34,126,782 (GRCm39)	N16I	probably damaging	Het
Cc2d2b	A	G	19: 40,813,483 (GRCm39)	E1321G	probably damaging	Het
Ccdc7b	A	G	8: 129,799,028 (GRCm39)	E35G	probably damaging	Het
Chsy3	A	G	18: 59,312,480 (GRCm39)	I318V	probably damaging	Het
Clrn2	G	A	5: 45,611,164 (GRCm39)	W4*	probably null	Het
Cmip	T	C	8: 118,163,334 (GRCm39)	I355T	possibly damaging	Het
Cmya5	C	T	13: 93,226,800 (GRCm39)	V2763M	probably damaging	Het
Cnnm2	T	C	19: 46,865,658 (GRCm39)	S749P	probably damaging	Het
Cyp1a1	G	T	9: 57,608,002 (GRCm39)	R210L	possibly damaging	Het
Dmxl1	G	A	18: 50,068,372 (GRCm39)	S2715N	probably benign	Het
Dync1h1	T	C	12: 110,590,995 (GRCm39)	L1021P	probably damaging	Het
Ecm2	C	T	13: 49,683,818 (GRCm39)	Q599*	probably null	Het
Galnt11	G	T	5: 25,455,097 (GRCm39)	K144N	possibly damaging	Het
Gm45861	A	G	8: 28,025,279 (GRCm39)		probably null	Het
Kcnk18	T	A	19: 59,208,390 (GRCm39)	D75E	probably benign	Het
Kcnk2	C	T	1: 188,942,187 (GRCm39)	V346M	probably benign	Het
Klhl33	T	A	14: 51,128,929 (GRCm39)	M767L	probably benign	Het
Knl1	T	C	2: 118,925,665 (GRCm39)	I1898T	possibly damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lamp3	T	C	16: 19,518,368 (GRCm39)	T290A	probably benign	Het
Larp1	T	A	11: 57,940,849 (GRCm39)	D658E	probably damaging	Het
Macf1	T	A	4: 123,326,246 (GRCm39)	I3521F	probably damaging	Het
Med12l	T	C	3: 59,174,586 (GRCm39)	S1835P	probably benign	Het
Mef2c	C	A	13: 83,741,061 (GRCm39)	N73K	probably damaging	Het
Mtmr3	T	C	11: 4,439,725 (GRCm39)	S572G	probably benign	Het
Neto2	A	T	8: 86,367,185 (GRCm39)	S520T	probably damaging	Het
Or10ak16	A	G	4: 118,750,304 (GRCm39)	N8S	probably damaging	Het
Or1o4	A	G	17: 37,591,200 (GRCm39)	L37S	probably benign	Het
Or4c110	A	T	2: 88,832,281 (GRCm39)	M117K	probably damaging	Het
P3h2	G	A	16: 25,811,495 (GRCm39)	R243C	probably damaging	Het
Pld1	T	C	3: 28,132,563 (GRCm39)	S584P	possibly damaging	Het
Prkcz	T	C	4: 155,353,513 (GRCm39)	N278S	possibly damaging	Het
Radil	A	G	5: 142,472,672 (GRCm39)	S913P	probably benign	Het
Sh3gl3	A	G	7: 81,956,178 (GRCm39)	E305G	possibly damaging	Het
Shank1	G	T	7: 44,001,217 (GRCm39)	D979Y	unknown	Het
Slc35a5	A	T	16: 44,964,443 (GRCm39)	N263K	possibly damaging	Het
Slc4a7	A	T	14: 14,737,452 (GRCm38)	M127L	probably benign	Het
Slc8a2	G	A	7: 15,891,282 (GRCm39)	G774E	probably damaging	Het
Smim45	C	A	15: 82,143,786 (GRCm39)	H3N	possibly damaging	Het
Snap91	A	G	9: 86,655,646 (GRCm39)	S847P	possibly damaging	Het
Stoml1	T	C	9: 58,168,177 (GRCm39)	L296P	probably damaging	Het
Tap1	G	T	17: 34,407,008 (GRCm39)	G52V	probably damaging	Het
Tent4b	T	C	8: 88,977,416 (GRCm39)	V363A	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,117,539 (GRCm39)	R239G	probably benign	Het
Ttn	T	C	2: 76,536,846 (GRCm39)	Y34993C	probably damaging	Het
Uchl1	T	C	5: 66,841,065 (GRCm39)	F165L	probably damaging	Het
Xrcc1	C	T	7: 24,246,776 (GRCm39)	Q15*	probably null	Het
Zkscan7	C	G	9: 122,717,766 (GRCm39)	Q54E	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
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
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
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'- ACAGCTGTGTTCTCTGAGTTCC -3'
(R):5'- GCCCCATTGAAGTGCGTATTC -3'

Sequencing Primer
(F):5'- GTACACCATATGCATGCCTGGTG -3'
(R):5'- CCCATTGAAGTGCGTATTCACAAAG -3'

Posted On

2018-10-18