Mutagenetix > Incidental Mutation

Incidental Mutation 'R5865:Lrrc31'

454111

Institutional Source

Beutler Lab

Gene Symbol

Lrrc31

Ensembl Gene

ENSMUSG00000074653

Gene Name

leucine rich repeat containing 31

Synonyms

E230002P03Rik

MMRRC Submission

044074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30733207-30753992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30733289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 475 (V475A)

Ref Sequence

ENSEMBL: ENSMUSP00000120802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108263] [ENSMUST00000126658]

AlphaFold

D3YY33

Predicted Effect

probably benign
Transcript: ENSMUST00000108263

SMART Domains

Protein: ENSMUSP00000103898
Gene: ENSMUSG00000074653

Domain	Start	End	E-Value	Type
LRR	92	119	4.5e-2	SMART
Blast:LRR	148	175	1e-8	BLAST
LRR	176	203	2.6e-1	SMART
LRR	204	231	6.7e-2	SMART
LRR	260	287	1e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126658
AA Change: V475A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000120802
Gene: ENSMUSG00000074653
AA Change: V475A

Domain	Start	End	E-Value	Type
LRR	92	119	4.4e-2	SMART
Blast:LRR	148	175	2e-8	BLAST
LRR	176	203	2.5e-1	SMART
LRR	204	231	6.5e-2	SMART
LRR	260	287	9.9e-2	SMART
Pfam:LRR_6	288	307	8.2e-1	PFAM
LRR	372	399	8e-3	SMART
LRR	402	430	2.7e-2	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.7%
20x: 88.7%

Validation Efficiency

91% (59/65)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	A	3: 32,766,277 (GRCm39)	V48M	possibly damaging	Het
Adamts2	T	G	11: 50,694,781 (GRCm39)	Y1189*	probably null	Het
Bpifb9a	T	C	2: 154,108,756 (GRCm39)	I419T	probably benign	Het
Ccbe1	A	T	18: 66,216,222 (GRCm39)	I167N	possibly damaging	Het
Ccdc187	T	C	2: 26,183,380 (GRCm39)	T207A	probably benign	Het
Cd300lf	G	A	11: 115,017,126 (GRCm39)	L66F	probably damaging	Het
Cenpk	A	G	13: 104,372,702 (GRCm39)	*92W	probably null	Het
Col12a1	A	T	9: 79,511,760 (GRCm39)	S2950R	probably benign	Het
Dnah3	T	C	7: 119,574,331 (GRCm39)	T2154A	probably benign	Het
Ebna1bp2	A	T	4: 118,478,332 (GRCm39)		probably benign	Het
Elac2	G	T	11: 64,888,783 (GRCm39)	C532F	probably benign	Het
Fam171a1	T	A	2: 3,226,374 (GRCm39)	D377E	probably benign	Het
Haus6	A	G	4: 86,504,594 (GRCm39)	C466R	possibly damaging	Het
Il4ra	T	C	7: 125,174,348 (GRCm39)	S297P	probably benign	Het
Itgb4	C	T	11: 115,881,748 (GRCm39)	R766W	probably damaging	Het
Kank4	T	C	4: 98,659,630 (GRCm39)	Y816C	possibly damaging	Het
Kcnc4	A	T	3: 107,365,515 (GRCm39)		probably null	Het
Kif21b	C	T	1: 136,078,875 (GRCm39)	R408*	probably null	Het
Map2k1	C	T	9: 64,098,548 (GRCm39)		probably null	Het
Mc3r	T	A	2: 172,091,592 (GRCm39)	N271K	possibly damaging	Het
Ms4a14	A	G	19: 11,281,581 (GRCm39)	S326P	possibly damaging	Het
Muc6	T	A	7: 141,236,769 (GRCm39)	I358F	probably damaging	Het
Myo5c	A	G	9: 75,204,770 (GRCm39)	D1541G	probably damaging	Het
Myof	T	C	19: 37,899,382 (GRCm39)	S1793G	probably damaging	Het
Nfkb1	T	A	3: 135,309,541 (GRCm39)	T518S	probably damaging	Het
Nphs1	T	A	7: 30,173,810 (GRCm39)	I989N	probably damaging	Het
Or5m12	T	C	2: 85,734,865 (GRCm39)	T178A	probably benign	Het
Pcdha5	T	C	18: 37,094,474 (GRCm39)	F328L	probably benign	Het
Pclo	T	A	5: 14,764,492 (GRCm39)	S4322T	probably benign	Het
Peg10	A	G	6: 4,754,375 (GRCm39)	N52S	probably damaging	Het
Phf10	A	C	17: 15,175,272 (GRCm39)		probably benign	Het
Pip4p1	A	G	14: 51,166,332 (GRCm39)		probably benign	Het
Psme4	T	C	11: 30,741,993 (GRCm39)	I152T	possibly damaging	Het
Ptpn18	T	A	1: 34,510,644 (GRCm39)		probably benign	Het
Rufy4	A	T	1: 74,185,914 (GRCm39)	Y527F	probably damaging	Het
Snx32	T	C	19: 5,546,382 (GRCm39)	M293V	probably benign	Het
Sorl1	A	T	9: 41,894,330 (GRCm39)	L1827M	possibly damaging	Het
Sstr5	T	A	17: 25,710,218 (GRCm39)	D337V	probably benign	Het
Tcaf3	A	G	6: 42,573,631 (GRCm39)	F194L	probably benign	Het
Tcerg1	T	A	18: 42,669,413 (GRCm39)	W459R	probably damaging	Het
Tet2	T	A	3: 133,192,860 (GRCm39)	I525L	probably benign	Het
Trim43b	C	T	9: 88,967,659 (GRCm39)	V325I	probably benign	Het
Txndc11	A	T	16: 10,940,552 (GRCm39)	I180K	probably damaging	Het
Vmn1r193	A	G	13: 22,403,395 (GRCm39)	L199P	probably damaging	Het
Vmn2r110	A	G	17: 20,804,557 (GRCm39)	M121T	probably benign	Het
Zfhx4	G	C	3: 5,467,719 (GRCm39)	A2626P	probably damaging	Het
Zfp445	C	T	9: 122,682,552 (GRCm39)	S463N	probably benign	Het
Zwilch	T	A	9: 64,080,190 (GRCm39)		probably null	Het

Other mutations in Lrrc31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03110:Lrrc31	APN	3	30,733,415 (GRCm39)	missense	probably benign	0.04
R0285:Lrrc31	UTSW	3	30,739,097 (GRCm39)	missense	probably benign	0.02
R0348:Lrrc31	UTSW	3	30,743,377 (GRCm39)	missense	probably benign	0.14
R0418:Lrrc31	UTSW	3	30,743,383 (GRCm39)	missense	probably damaging	1.00
R0453:Lrrc31	UTSW	3	30,741,674 (GRCm39)	missense	probably damaging	1.00
R0613:Lrrc31	UTSW	3	30,739,184 (GRCm39)	splice site	probably benign
R2243:Lrrc31	UTSW	3	30,739,179 (GRCm39)	splice site	probably benign
R2248:Lrrc31	UTSW	3	30,744,050 (GRCm39)	missense	possibly damaging	0.95
R4093:Lrrc31	UTSW	3	30,749,671 (GRCm39)	missense	probably damaging	1.00
R4781:Lrrc31	UTSW	3	30,741,526 (GRCm39)	intron	probably benign
R4805:Lrrc31	UTSW	3	30,745,446 (GRCm39)	nonsense	probably null
R4835:Lrrc31	UTSW	3	30,733,306 (GRCm39)	missense	probably damaging	0.97
R4893:Lrrc31	UTSW	3	30,733,446 (GRCm39)	missense	probably benign	0.02
R4936:Lrrc31	UTSW	3	30,743,417 (GRCm39)	missense	probably damaging	1.00
R5063:Lrrc31	UTSW	3	30,744,085 (GRCm39)	missense	possibly damaging	0.78
R5135:Lrrc31	UTSW	3	30,739,039 (GRCm39)	nonsense	probably null
R5527:Lrrc31	UTSW	3	30,745,377 (GRCm39)	missense	probably damaging	1.00
R5607:Lrrc31	UTSW	3	30,743,994 (GRCm39)	splice site	probably null
R5608:Lrrc31	UTSW	3	30,743,994 (GRCm39)	splice site	probably null
R5611:Lrrc31	UTSW	3	30,745,304 (GRCm39)	critical splice donor site	probably null
R6001:Lrrc31	UTSW	3	30,745,318 (GRCm39)	missense	possibly damaging	0.68
R7583:Lrrc31	UTSW	3	30,745,248 (GRCm39)	splice site	probably null
R8358:Lrrc31	UTSW	3	30,753,932 (GRCm39)	start gained	probably benign
R8812:Lrrc31	UTSW	3	30,733,328 (GRCm39)	missense	probably benign	0.37
R8955:Lrrc31	UTSW	3	30,733,267 (GRCm39)	missense	probably benign	0.00
R9072:Lrrc31	UTSW	3	30,753,859 (GRCm39)	missense	probably benign	0.00
R9073:Lrrc31	UTSW	3	30,753,859 (GRCm39)	missense	probably benign	0.00
R9682:Lrrc31	UTSW	3	30,743,423 (GRCm39)	missense	probably damaging	0.99
R9691:Lrrc31	UTSW	3	30,741,617 (GRCm39)	missense	probably damaging	0.99
R9702:Lrrc31	UTSW	3	30,735,226 (GRCm39)	missense	probably damaging	1.00
X0027:Lrrc31	UTSW	3	30,743,428 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- AGCTACTAAACAACTACAGGCTGAG -3'
(R):5'- AGCGACACTACAGAAGCTTG -3'

Sequencing Primer
(F):5'- AACTACAGGCTGAGCACAG -3'
(R):5'- CCTGAGCTACAATGACGGTATCTG -3'

Posted On

2017-02-10