Mutagenetix > Incidental Mutation

Incidental Mutation 'R1446:Retreg2'

158836

Institutional Source

Beutler Lab

Gene Symbol

Retreg2

Ensembl Gene

ENSMUSG00000049339

Gene Name

reticulophagy regulator family member 2

Synonyms

MGC47289, Fam134a

MMRRC Submission

039501-MU

Accession Numbers

Essential gene?

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

Stock #

R1446 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

75119422-75124557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75120103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 44 (F44L)

Ref Sequence

ENSEMBL: ENSMUSP00000140636 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000097694
AA Change: F119L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000095300
Gene: ENSMUSG00000049339
AA Change: F119L

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: F67L

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187901
AA Change: F44L

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140636
Gene: ENSMUSG00000049339
AA Change: F44L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188873
AA Change: F119L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139508
Gene: ENSMUSG00000049339
AA Change: F119L

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

probably benign
Transcript: ENSMUST00000190240
AA Change: F119L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000139410
Gene: ENSMUSG00000049339
AA Change: F119L

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: ENSMUST00000189650
AA Change: F80L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139473
Gene: ENSMUSG00000049339
AA Change: F80L

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

noncoding transcript
Transcript: ENSMUST00000189043

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: 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

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Adcy4	A	T	14: 56,007,480 (GRCm39)		probably null	Het
Ahcyl2	T	C	6: 29,891,239 (GRCm39)	S448P	probably damaging	Het
Anks1b	A	G	10: 90,346,935 (GRCm39)	Y745C	probably benign	Het
Anxa1	A	T	19: 20,351,103 (GRCm39)	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,153,591 (GRCm39)	D64G	probably benign	Het
Arpc1a	A	G	5: 145,037,896 (GRCm39)		probably null	Het
Bank1	C	T	3: 135,769,904 (GRCm39)	G727R	probably damaging	Het
Best2	T	C	8: 85,734,593 (GRCm39)	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,596,189 (GRCm39)	M501L	probably benign	Het
Col27a1	T	A	4: 63,143,040 (GRCm39)	Y243N	probably damaging	Het
Cyp11a1	A	T	9: 57,922,560 (GRCm39)	Q80L	possibly damaging	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,112,128 (GRCm39)	H139R	probably benign	Het
Dppa5a	T	A	9: 78,275,071 (GRCm39)	N77I	probably benign	Het
Edc4	T	C	8: 106,614,764 (GRCm39)	S125P	probably damaging	Het
Eid2	T	C	7: 27,968,014 (GRCm39)	I212T	possibly damaging	Het
Fam234b	T	A	6: 135,186,328 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,017 (GRCm39)	E830G	probably benign	Het
Fyb1	A	T	15: 6,681,947 (GRCm39)	I765L	probably benign	Het
Fyn	T	G	10: 39,398,775 (GRCm39)	S124A	probably benign	Het
Gal3st3	T	A	19: 5,356,939 (GRCm39)	F105I	probably damaging	Het
Gpr146	A	G	5: 139,379,177 (GRCm39)	I326M	probably benign	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Gsn	A	G	2: 35,196,598 (GRCm39)	K669R	probably benign	Het
H2-T10	A	T	17: 36,430,266 (GRCm39)	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,286,127 (GRCm39)	H106R	probably benign	Het
Kat14	A	G	2: 144,215,638 (GRCm39)	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,361,792 (GRCm39)	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,805,525 (GRCm39)	T244I	probably damaging	Het
Klb	A	T	5: 65,506,338 (GRCm39)	H195L	probably damaging	Het
Lrriq4	T	C	3: 30,704,727 (GRCm39)	F252L	probably benign	Het
Lum	C	T	10: 97,404,252 (GRCm39)	T49I	possibly damaging	Het
Map3k4	T	A	17: 12,475,681 (GRCm39)	L84*	probably null	Het
Mindy2	A	G	9: 70,514,738 (GRCm39)		probably null	Het
Mpped2	G	T	2: 106,614,077 (GRCm39)	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,905,425 (GRCm39)	R2058W	probably damaging	Het
Nol8	T	A	13: 49,808,703 (GRCm39)	L65Q	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or4c108	A	G	2: 88,804,109 (GRCm39)	I42T	probably benign	Het
Or4x6	A	T	2: 89,949,202 (GRCm39)	L247M	probably damaging	Het
Or5b105	G	A	19: 13,080,380 (GRCm39)	A96V	possibly damaging	Het
Or5g9	A	G	2: 85,551,917 (GRCm39)	H56R	probably damaging	Het
Or8b3	T	G	9: 38,314,601 (GRCm39)	C144G	possibly damaging	Het
Or9a4	C	T	6: 40,548,833 (GRCm39)	S171L	probably benign	Het
Parp12	G	T	6: 39,079,495 (GRCm39)	D338E	probably benign	Het
Pde6d	T	C	1: 86,474,414 (GRCm39)	E77G	probably damaging	Het
Phkg1	A	C	5: 129,902,055 (GRCm39)		probably null	Het
Pigw	A	C	11: 84,769,186 (GRCm39)	S48A	probably benign	Het
Pkm	T	A	9: 59,576,193 (GRCm39)		probably null	Het
Ppp1r3f	G	A	X: 7,426,602 (GRCm39)	T553M	probably damaging	Het
Ryr2	A	T	13: 11,753,035 (GRCm39)	M1762K	probably benign	Het
Sec16a	A	G	2: 26,313,579 (GRCm39)	V1927A	probably benign	Het
Sec23a	G	T	12: 59,025,345 (GRCm39)	A492E	probably damaging	Het
Skint4	T	A	4: 111,975,311 (GRCm39)	H82Q	probably benign	Het
Srbd1	T	C	17: 86,446,580 (GRCm39)	K60E	probably benign	Het
Stk24	A	G	14: 121,545,456 (GRCm39)	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,726,396 (GRCm39)	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848 (GRCm39)	P757S	probably damaging	Het
Tmc2	A	T	2: 130,090,650 (GRCm39)	E665D	probably damaging	Het
Tmprss15	C	A	16: 78,875,846 (GRCm39)	D163Y	probably benign	Het
Unc13a	C	A	8: 72,101,625 (GRCm39)	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,819,496 (GRCm39)	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,645,264 (GRCm39)	M450V	possibly damaging	Het
Wars2	T	C	3: 99,094,843 (GRCm39)	I46T	probably benign	Het
Wdfy3	G	T	5: 101,999,176 (GRCm39)	T3098K	possibly damaging	Het
Zan	A	T	5: 137,387,622 (GRCm39)	I4863N	unknown	Het
Zfp616	A	G	11: 73,974,064 (GRCm39)		probably null	Het
Zfp770	A	T	2: 114,027,514 (GRCm39)	I185N	probably damaging	Het
Zfp808	T	G	13: 62,320,821 (GRCm39)	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,776,275 (GRCm39)	W1221R	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
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'- ACTCAACGGCCTCTTCTGGTAACG -3'
(R):5'- GAAGTCCAGAGCATTCCCTTTACCC -3'

Sequencing Primer
(F):5'- TGAGGCTTAGAGGGCCATC -3'
(R):5'- GATATGCTGTTTCTGAACCCAG -3'

Posted On

2014-03-14