Mutagenetix > Incidental Mutation

Incidental Mutation 'R6384:Lrrc47'

515494

Institutional Source

Beutler Lab

Gene Symbol

Lrrc47

Ensembl Gene

ENSMUSG00000029028

Gene Name

leucine rich repeat containing 47

Synonyms

2900010D03Rik

MMRRC Submission

044533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R6384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154096260-154105969 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154100317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 298 (S298P)

Ref Sequence

ENSEMBL: ENSMUSP00000133124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030894] [ENSMUST00000143047] [ENSMUST00000169622] [ENSMUST00000182151] [ENSMUST00000182191]

AlphaFold

Q505F5

Predicted Effect

probably benign
Transcript: ENSMUST00000030894
AA Change: S276P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030894
Gene: ENSMUSG00000029028
AA Change: S276P

Domain	Start	End	E-Value	Type
low complexity region	1	7	N/A	INTRINSIC
low complexity region	10	36	N/A	INTRINSIC
low complexity region	43	54	N/A	INTRINSIC
LRR_TYP	100	123	2.61e-4	SMART
LRR_TYP	130	153	2.12e-4	SMART
LRR	155	177	3.75e0	SMART
LRR	180	202	9.77e1	SMART
LRR_TYP	203	226	2.27e-4	SMART
low complexity region	261	272	N/A	INTRINSIC
low complexity region	277	292	N/A	INTRINSIC
B3_4	331	507	8.94e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142794

Predicted Effect

probably benign
Transcript: ENSMUST00000143047

SMART Domains

Protein: ENSMUSP00000138733
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163672

Predicted Effect

probably benign
Transcript: ENSMUST00000167947

SMART Domains

Protein: ENSMUSP00000131382
Gene: ENSMUSG00000029028

Domain	Start	End	E-Value	Type
Pfam:B3_4	1	54	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169622
AA Change: S298P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133124
Gene: ENSMUSG00000029028
AA Change: S298P

Domain	Start	End	E-Value	Type
low complexity region	22	29	N/A	INTRINSIC
low complexity region	32	58	N/A	INTRINSIC
low complexity region	65	76	N/A	INTRINSIC
LRR_TYP	122	145	2.61e-4	SMART
LRR_TYP	152	175	2.12e-4	SMART
LRR	177	199	3.75e0	SMART
LRR	202	224	9.77e1	SMART
LRR_TYP	225	248	2.27e-4	SMART
low complexity region	283	294	N/A	INTRINSIC
low complexity region	299	314	N/A	INTRINSIC
B3_4	353	529	8.94e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182151

SMART Domains

Protein: ENSMUSP00000138692
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182191

SMART Domains

Protein: ENSMUSP00000138710
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,790,066 (GRCm39)	T97S	probably benign	Het
Adam34	T	A	8: 44,103,836 (GRCm39)	D603V	probably benign	Het
Adamts5	C	T	16: 85,659,716 (GRCm39)	V859I	probably benign	Het
Alb	T	A	5: 90,620,499 (GRCm39)	D536E	possibly damaging	Het
Amz2	A	G	11: 109,319,860 (GRCm39)	Y82C	probably damaging	Het
Asxl1	T	C	2: 153,233,744 (GRCm39)		probably null	Het
Bach1	C	T	16: 87,516,745 (GRCm39)	Q429*	probably null	Het
Bcl6	A	G	16: 23,793,615 (GRCm39)	Y111H	probably damaging	Het
Ccnj	T	C	19: 40,834,451 (GRCm39)	V338A	probably benign	Het
Cdca3	C	T	6: 124,809,382 (GRCm39)	P174L	probably damaging	Het
Cdk17	T	C	10: 93,047,827 (GRCm39)	L25P	probably damaging	Het
Cdr2	G	A	7: 120,581,351 (GRCm39)		probably null	Het
Cyp2c38	A	T	19: 39,380,737 (GRCm39)		probably null	Het
Ednra	T	C	8: 78,415,723 (GRCm39)	N175D	probably damaging	Het
Elp3	T	C	14: 65,797,660 (GRCm39)	Y337C	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Eps15l1	A	T	8: 73,122,554 (GRCm39)		probably null	Het
F11r	A	G	1: 171,288,508 (GRCm39)	N117S	probably benign	Het
Foxp2	C	T	6: 15,437,947 (GRCm39)	T716I	probably damaging	Het
Gnaq	A	G	19: 16,293,377 (GRCm39)		probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpr158	T	C	2: 21,831,099 (GRCm39)	M733T	probably damaging	Het
Hdac7	G	A	15: 97,709,387 (GRCm39)	Q48*	probably null	Het
Hmga2	G	A	10: 120,206,612 (GRCm39)		probably benign	Het
Itgb7	A	G	15: 102,132,886 (GRCm39)	V142A	probably benign	Het
Kif5a	T	C	10: 127,078,644 (GRCm39)	N334D	probably damaging	Het
Map3k1	A	T	13: 111,887,064 (GRCm39)	S1415R	probably damaging	Het
Mdn1	T	A	4: 32,670,607 (GRCm39)	L424Q	probably damaging	Het
Numb	A	C	12: 83,850,748 (GRCm39)	L154R	probably damaging	Het
Or8g27	T	C	9: 39,129,274 (GRCm39)	V207A	probably benign	Het
Or8k30	A	G	2: 86,339,381 (GRCm39)	K193E	probably benign	Het
Pdcd5	G	T	7: 35,346,334 (GRCm39)	A92E	possibly damaging	Het
Pdcl2	C	T	5: 76,478,855 (GRCm39)		probably null	Het
Rbfa	T	C	18: 80,235,996 (GRCm39)	Y251C	probably damaging	Het
Rgsl1	G	A	1: 153,703,291 (GRCm39)	T120I	possibly damaging	Het
Serpina3g	A	G	12: 104,206,655 (GRCm39)	Q152R	probably null	Het
Setx	T	C	2: 29,063,570 (GRCm39)	S2289P	probably damaging	Het
Slc6a16	A	G	7: 44,907,017 (GRCm39)		probably null	Het
Slco1a6	C	T	6: 142,055,105 (GRCm39)	D280N	probably benign	Het
Syde2	T	A	3: 145,704,568 (GRCm39)	Y240N	probably damaging	Het
Synpo2	G	A	3: 122,906,698 (GRCm39)	Q873*	probably null	Het
Tlr2	A	G	3: 83,744,301 (GRCm39)	V594A	probably benign	Het
Ttc16	C	T	2: 32,657,561 (GRCm39)	A512T	probably damaging	Het
Tubb5	T	C	17: 36,148,938 (GRCm39)	E3G	probably damaging	Het
Vmn2r112	T	C	17: 22,824,136 (GRCm39)	Y464H	probably damaging	Het
Xcr1	T	A	9: 123,684,847 (GRCm39)	H305L	probably damaging	Het
Yars1	T	G	4: 129,090,771 (GRCm39)		probably null	Het

Other mutations in Lrrc47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02502:Lrrc47	APN	4	154,100,471 (GRCm39)	missense	probably benign	0.01
IGL02614:Lrrc47	APN	4	154,103,392 (GRCm39)	splice site	probably null
IGL03001:Lrrc47	APN	4	154,100,450 (GRCm39)	missense	probably damaging	0.99
R0372:Lrrc47	UTSW	4	154,104,089 (GRCm39)	missense	probably benign	0.00
R0433:Lrrc47	UTSW	4	154,102,822 (GRCm39)	unclassified	probably benign
R0720:Lrrc47	UTSW	4	154,104,344 (GRCm39)	splice site	probably null
R1163:Lrrc47	UTSW	4	154,096,274 (GRCm39)	start codon destroyed	probably null
R2078:Lrrc47	UTSW	4	154,103,888 (GRCm39)	missense	probably damaging	1.00
R2103:Lrrc47	UTSW	4	154,100,350 (GRCm39)	missense	probably damaging	1.00
R5105:Lrrc47	UTSW	4	154,096,673 (GRCm39)	missense	probably damaging	1.00
R5109:Lrrc47	UTSW	4	154,101,933 (GRCm39)	missense	probably damaging	0.99
R5687:Lrrc47	UTSW	4	154,100,140 (GRCm39)	missense	probably benign	0.10
R5885:Lrrc47	UTSW	4	154,100,429 (GRCm39)	missense	possibly damaging	0.75
R6198:Lrrc47	UTSW	4	154,100,129 (GRCm39)	missense	probably damaging	1.00
R7040:Lrrc47	UTSW	4	154,104,909 (GRCm39)	makesense	probably null
R7680:Lrrc47	UTSW	4	154,100,558 (GRCm39)	missense	probably benign	0.00
R8263:Lrrc47	UTSW	4	154,100,486 (GRCm39)	missense	probably damaging	1.00
R9092:Lrrc47	UTSW	4	154,096,421 (GRCm39)	missense	possibly damaging	0.79
R9364:Lrrc47	UTSW	4	154,100,398 (GRCm39)	missense	possibly damaging	0.78
R9483:Lrrc47	UTSW	4	154,101,920 (GRCm39)	missense	probably damaging	1.00
R9706:Lrrc47	UTSW	4	154,096,487 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGCAGACATTGGACCTC -3'
(R):5'- AATGGCCCCGACGATGTATG -3'

Sequencing Primer
(F):5'- ACTAACAGAGATCCCTGCTGAG -3'
(R):5'- TATGGGCGCACATCCTTGAC -3'

Posted On

2018-05-04