Mutagenetix > Incidental Mutation

Incidental Mutation 'R8043:Lrrc40'

618614

Institutional Source

Beutler Lab

Gene Symbol

Lrrc40

Ensembl Gene

ENSMUSG00000063052

Gene Name

leucine rich repeat containing 40

Synonyms

2610040E16Rik

MMRRC Submission

067480-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R8043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157742319-157772727 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157769397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 532 (S532P)

Ref Sequence

ENSEMBL: ENSMUSP00000071956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072080] [ENSMUST00000150525] [ENSMUST00000156597]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072080
AA Change: S532P

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071956
Gene: ENSMUSG00000063052
AA Change: S532P

Domain	Start	End	E-Value	Type
LRR	81	100	7.11e1	SMART
LRR	104	126	6.13e-1	SMART
LRR	127	149	1.51e0	SMART
LRR_TYP	150	172	8.47e-4	SMART
LRR	173	195	3.52e-1	SMART
LRR_TYP	196	219	2.91e-2	SMART
LRR	242	261	9.15e0	SMART
LRR	265	287	1.01e2	SMART
LRR	288	310	1.86e1	SMART
LRR	311	334	2.32e-1	SMART
LRR	335	356	2.21e2	SMART
LRR	471	493	1.86e0	SMART
LRR	494	517	8.97e0	SMART
LRR	541	564	1.53e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150525

SMART Domains

Protein: ENSMUSP00000116475
Gene: ENSMUSG00000063052

Domain	Start	End	E-Value	Type
SCOP:d1fqva2	81	111	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156597

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,211,665 (GRCm39)	Y628C	probably damaging	Het
Alpk2	C	T	18: 65,482,901 (GRCm39)	C369Y	probably damaging	Het
Atl1	T	C	12: 70,005,989 (GRCm39)	Y432H	probably damaging	Het
Cacnb4	C	T	2: 52,355,663 (GRCm39)	V215M	probably damaging	Het
Cep170	C	T	1: 176,596,808 (GRCm39)	M516I	probably damaging	Het
Cep83	A	C	10: 94,573,804 (GRCm39)	N231T	probably damaging	Het
Cfap44	G	A	16: 44,234,054 (GRCm39)	G338D	probably benign	Het
Col6a6	A	T	9: 105,576,219 (GRCm39)	V2047E	probably damaging	Het
Coro1c	C	T	5: 114,003,820 (GRCm39)		silent	Het
Cplx4	A	T	18: 66,090,190 (GRCm39)		probably null	Het
Csf1r	G	C	18: 61,257,947 (GRCm39)	G639R	probably damaging	Het
Epha5	A	G	5: 84,381,513 (GRCm39)	V446A	probably benign	Het
Esam	T	C	9: 37,448,317 (GRCm39)	V252A	probably damaging	Het
F13b	T	G	1: 139,450,186 (GRCm39)	M616R	probably benign	Het
Fbxw21	T	C	9: 108,975,694 (GRCm39)	Y234C	probably benign	Het
Fshr	C	T	17: 89,293,818 (GRCm39)	E287K	probably benign	Het
Fstl4	T	C	11: 52,891,050 (GRCm39)	S63P	probably benign	Het
Glra1	G	A	11: 55,424,688 (GRCm39)	P174L	probably damaging	Het
Golga7	A	T	8: 23,746,731 (GRCm39)	C24S	possibly damaging	Het
Gpr3	G	A	4: 132,938,271 (GRCm39)	R134C	probably damaging	Het
Greb1	T	C	12: 16,761,790 (GRCm39)	E530G	probably damaging	Het
Hmgcs2	C	T	3: 98,198,444 (GRCm39)	R116C	probably damaging	Het
Kcnj9	C	A	1: 172,153,623 (GRCm39)	R167L	probably damaging	Het
Kcnq5	T	A	1: 21,549,644 (GRCm39)	Q361L	probably damaging	Het
Mob3a	A	T	10: 80,525,846 (GRCm39)	I155N	probably damaging	Het
Mpi	A	T	9: 57,457,881 (GRCm39)	L107Q	probably damaging	Het
Npffr2	G	A	5: 89,730,513 (GRCm39)	V148I	probably benign	Het
Nrp1	G	T	8: 129,158,504 (GRCm39)	V264L	probably benign	Het
Oas1a	T	C	5: 121,035,080 (GRCm39)	E360G	probably benign	Het
Or4k15c	A	T	14: 50,321,367 (GRCm39)	I257N	possibly damaging	Het
Or52e8	A	T	7: 104,625,080 (GRCm39)	Y41*	probably null	Het
Or5b96	A	C	19: 12,867,095 (GRCm39)	V282G	probably damaging	Het
Pcdha2	A	G	18: 37,072,579 (GRCm39)	D70G	probably benign	Het
Pcsk2	A	T	2: 143,655,450 (GRCm39)	K545*	probably null	Het
Phf11b	T	C	14: 59,568,722 (GRCm39)	S64G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Pygo2	T	C	3: 89,340,235 (GRCm39)	L211P	possibly damaging	Het
Rbbp6	C	T	7: 122,584,468 (GRCm39)	T161I	probably damaging	Het
Rcsd1	A	T	1: 165,482,911 (GRCm39)	I390N	probably benign	Het
Rpl21	T	C	5: 146,772,702 (GRCm39)	V141A	probably benign	Het
Rufy3	C	A	5: 88,790,851 (GRCm39)	D517E	probably benign	Het
Ryr3	A	T	2: 112,606,009 (GRCm39)	L2417Q	probably damaging	Het
Ryr3	C	T	2: 112,705,422 (GRCm39)	E831K	probably damaging	Het
Sipa1l1	A	C	12: 82,496,700 (GRCm39)	Q1744P	probably damaging	Het
Sirt6	A	G	10: 81,458,240 (GRCm39)		probably null	Het
Slain1	C	A	14: 103,925,782 (GRCm39)	Q377K	possibly damaging	Het
Slc30a6	T	G	17: 74,730,018 (GRCm39)	S303A	probably damaging	Het
Sorcs3	T	A	19: 48,752,734 (GRCm39)	L843Q	possibly damaging	Het
Usp45	G	A	4: 21,824,543 (GRCm39)	A432T	probably benign	Het
Vmn1r91	T	A	7: 19,835,218 (GRCm39)	S46T	possibly damaging	Het
Ybx3	T	C	6: 131,361,469 (GRCm39)	N100S	probably benign	Het
Zfp747	A	G	7: 126,973,225 (GRCm39)	L315P	probably benign	Het
Zfp750	T	C	11: 121,402,706 (GRCm39)	T681A	probably benign	Het

Other mutations in Lrrc40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Lrrc40	APN	3	157,754,087 (GRCm39)	missense	probably damaging	1.00
IGL00501:Lrrc40	APN	3	157,766,919 (GRCm39)	missense	probably damaging	0.96
IGL00727:Lrrc40	APN	3	157,769,508 (GRCm39)	critical splice donor site	probably null
IGL01349:Lrrc40	APN	3	157,764,302 (GRCm39)	splice site	probably benign
IGL02377:Lrrc40	APN	3	157,742,365 (GRCm39)	start codon destroyed	probably null	1.00
IGL02490:Lrrc40	APN	3	157,768,336 (GRCm39)	missense	probably damaging	1.00
IGL02657:Lrrc40	APN	3	157,742,410 (GRCm39)	missense	probably damaging	1.00
IGL02879:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL02944:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL02954:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL02966:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL03004:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL03032:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL03112:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL03163:Lrrc40	APN	3	157,747,224 (GRCm39)	missense	possibly damaging	0.82
I2288:Lrrc40	UTSW	3	157,758,426 (GRCm39)	missense	probably damaging	1.00
R0266:Lrrc40	UTSW	3	157,747,298 (GRCm39)	critical splice donor site	probably null
R0355:Lrrc40	UTSW	3	157,746,108 (GRCm39)	missense	probably damaging	0.99
R0457:Lrrc40	UTSW	3	157,760,201 (GRCm39)	splice site	probably null
R0968:Lrrc40	UTSW	3	157,742,426 (GRCm39)	missense	probably damaging	1.00
R1799:Lrrc40	UTSW	3	157,742,441 (GRCm39)	missense	probably benign	0.38
R1962:Lrrc40	UTSW	3	157,746,086 (GRCm39)	missense	probably benign	0.01
R4614:Lrrc40	UTSW	3	157,760,271 (GRCm39)	missense	probably damaging	1.00
R4825:Lrrc40	UTSW	3	157,766,967 (GRCm39)	nonsense	probably null
R4857:Lrrc40	UTSW	3	157,771,866 (GRCm39)	utr 3 prime	probably benign
R4947:Lrrc40	UTSW	3	157,769,472 (GRCm39)	missense	probably benign	0.00
R5148:Lrrc40	UTSW	3	157,760,206 (GRCm39)	splice site	probably null
R5673:Lrrc40	UTSW	3	157,754,035 (GRCm39)	splice site	probably null
R6354:Lrrc40	UTSW	3	157,766,901 (GRCm39)	nonsense	probably null
R6382:Lrrc40	UTSW	3	157,764,333 (GRCm39)	missense	probably damaging	0.98
R6713:Lrrc40	UTSW	3	157,769,350 (GRCm39)	missense	probably benign	0.00
R7081:Lrrc40	UTSW	3	157,742,442 (GRCm39)	missense	probably damaging	0.98
R7098:Lrrc40	UTSW	3	157,747,276 (GRCm39)	missense	probably benign	0.29
R7484:Lrrc40	UTSW	3	157,746,194 (GRCm39)	missense	probably benign	0.14
R8093:Lrrc40	UTSW	3	157,757,419 (GRCm39)	nonsense	probably null
R8461:Lrrc40	UTSW	3	157,764,371 (GRCm39)	missense	possibly damaging	0.66
R9564:Lrrc40	UTSW	3	157,746,078 (GRCm39)	missense	probably benign	0.27
V1662:Lrrc40	UTSW	3	157,758,426 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCTGCTGAGTATGTGTTCCA -3'
(R):5'- CATCATGATATATACATGCCAGAAAAC -3'

Sequencing Primer
(F):5'- AGGCCCTTGGTCTAGCAAAGATC -3'
(R):5'- AAGAAAAATGAGGTGTTTGCTTAAC -3'

Posted On

2020-01-23