Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Lrrc47'

546989

Institutional Source

Beutler Lab

Gene Symbol

Lrrc47

Ensembl Gene

ENSMUSG00000029028

Gene Name

leucine rich repeat containing 47

Synonyms

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154011731-154021513 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 154020452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 123 (*123R)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030894] [ENSMUST00000125533] [ENSMUST00000126119] [ENSMUST00000130175] [ENSMUST00000131325] [ENSMUST00000132541] [ENSMUST00000139569] [ENSMUST00000143047] [ENSMUST00000145527] [ENSMUST00000146054] [ENSMUST00000146426] [ENSMUST00000146543] [ENSMUST00000169622] [ENSMUST00000182151] [ENSMUST00000182191]

AlphaFold

Q505F5

Predicted Effect

probably benign
Transcript: ENSMUST00000030894

SMART Domains

Protein: ENSMUSP00000030894
Gene: ENSMUSG00000029028

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

probably benign
Transcript: ENSMUST00000125533

SMART Domains

Protein: ENSMUSP00000138324
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: ENSMUST00000126119

SMART Domains

Protein: ENSMUSP00000138560
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: ENSMUST00000130175

SMART Domains

Protein: ENSMUSP00000138675
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: ENSMUST00000131325

SMART Domains

Protein: ENSMUSP00000138777
Gene: ENSMUSG00000078350

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132541

SMART Domains

Protein: ENSMUSP00000138471
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: ENSMUST00000139569

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: ENSMUST00000145527

SMART Domains

Protein: ENSMUSP00000138448
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: ENSMUST00000146054

SMART Domains

Protein: ENSMUSP00000138605
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 null
Transcript: ENSMUST00000167947
AA Change: *123R

SMART Domains

Protein: ENSMUSP00000131382
Gene: ENSMUSG00000029028
AA Change: *123R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146426

Predicted Effect

probably benign
Transcript: ENSMUST00000146543

SMART Domains

Protein: ENSMUSP00000138267
Gene: ENSMUSG00000078350

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163672

Predicted Effect

probably benign
Transcript: ENSMUST00000169622

SMART Domains

Protein: ENSMUSP00000133124
Gene: ENSMUSG00000029028

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	probably damaging	Het

Other mutations in Lrrc47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02502:Lrrc47	APN	4	154016014	missense	probably benign	0.01
IGL02614:Lrrc47	APN	4	154018935	splice site	probably null
IGL03001:Lrrc47	APN	4	154015993	missense	probably damaging	0.99
R0372:Lrrc47	UTSW	4	154019632	missense	probably benign	0.00
R0433:Lrrc47	UTSW	4	154018365	unclassified	probably benign
R0720:Lrrc47	UTSW	4	154019887	splice site	probably null
R1163:Lrrc47	UTSW	4	154011817	start codon destroyed	probably null
R2078:Lrrc47	UTSW	4	154019431	missense	probably damaging	1.00
R2103:Lrrc47	UTSW	4	154015893	missense	probably damaging	1.00
R5105:Lrrc47	UTSW	4	154012216	missense	probably damaging	1.00
R5109:Lrrc47	UTSW	4	154017476	missense	probably damaging	0.99
R5687:Lrrc47	UTSW	4	154015683	missense	probably benign	0.10
R5885:Lrrc47	UTSW	4	154015972	missense	possibly damaging	0.75
R6198:Lrrc47	UTSW	4	154015672	missense	probably damaging	1.00
R6384:Lrrc47	UTSW	4	154015860	missense	probably benign	0.00
R7680:Lrrc47	UTSW	4	154016101	missense	probably benign	0.00
R8263:Lrrc47	UTSW	4	154016029	missense	probably damaging	1.00
R9092:Lrrc47	UTSW	4	154011964	missense	possibly damaging	0.79
R9364:Lrrc47	UTSW	4	154015941	missense	possibly damaging	0.78
R9483:Lrrc47	UTSW	4	154017463	missense	probably damaging	1.00
R9706:Lrrc47	UTSW	4	154012030	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGTCTGTGTAGGTGTGGAT -3'
(R):5'- GTTCCAAGCACAGCCGTG -3'

Sequencing Primer
(F):5'- AGGTGTGGATATGCTGTAGGTATC -3'
(R):5'- GATGTTCTCAACTGTCTATGCACAG -3'

Posted On

2019-05-13