Mutagenetix > Incidental Mutation

Incidental Mutation 'R0418:Lrrc31'

36852

Institutional Source

Beutler Lab

Gene Symbol

Lrrc31

Ensembl Gene

ENSMUSG00000074653

Gene Name

leucine rich repeat containing 31

Synonyms

E230002P03Rik

MMRRC Submission

038620-MU

Accession Numbers

Essential gene?

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

Stock #

R0418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30733207-30753992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30743383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 194 (L194Q)

Ref Sequence

ENSEMBL: ENSMUSP00000103898 (fasta)

Gene Model

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

AlphaFold

D3YY33

Predicted Effect

probably damaging
Transcript: ENSMUST00000108263
AA Change: L194Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103898
Gene: ENSMUSG00000074653
AA Change: L194Q

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 damaging
Transcript: ENSMUST00000126658
AA Change: L194Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120802
Gene: ENSMUSG00000074653
AA Change: L194Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133653

Meta Mutation Damage Score

0.2396

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	G	T	2: 103,953,675 (GRCm39)		probably null	Het
Abca14	T	C	7: 119,806,657 (GRCm39)	L19P	probably damaging	Het
Abcb1a	T	A	5: 8,763,281 (GRCm39)	V603E	probably damaging	Het
Acsl5	A	G	19: 55,261,238 (GRCm39)	D65G	probably benign	Het
Acss3	T	C	10: 106,859,773 (GRCm39)	Y311C	probably damaging	Het
Ak8	T	G	2: 28,623,868 (GRCm39)	I151S	possibly damaging	Het
Aldh1a1	T	C	19: 20,606,413 (GRCm39)		probably benign	Het
Aldh1l1	A	G	6: 90,546,875 (GRCm39)	R393G	possibly damaging	Het
Ankhd1	T	A	18: 36,767,353 (GRCm39)	L1164Q	probably damaging	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
Atf5	A	G	7: 44,462,821 (GRCm39)	M101T	possibly damaging	Het
Det1	T	C	7: 78,493,765 (GRCm39)	T80A	probably benign	Het
Dpp9	C	T	17: 56,501,404 (GRCm39)		probably benign	Het
Fam13c	A	G	10: 70,370,591 (GRCm39)	R244G	probably damaging	Het
Fat3	A	T	9: 16,158,192 (GRCm39)	N1139K	probably damaging	Het
Fbxo17	A	G	7: 28,432,916 (GRCm39)	T146A	possibly damaging	Het
Fli1	T	C	9: 32,363,425 (GRCm39)		probably benign	Het
Glb1l2	T	G	9: 26,705,397 (GRCm39)	D151A	probably damaging	Het
Gli2	G	A	1: 118,768,220 (GRCm39)	T669I	possibly damaging	Het
Igsf3	C	A	3: 101,342,751 (GRCm39)	R463S	probably damaging	Het
Il1rl2	T	C	1: 40,365,662 (GRCm39)	V3A	unknown	Het
Irx3	G	A	8: 92,526,708 (GRCm39)	S332F	probably benign	Het
Katnb1	C	T	8: 95,822,286 (GRCm39)	T303M	possibly damaging	Het
Lrrc37a	T	G	11: 103,394,264 (GRCm39)	E387A	probably benign	Het
Mapk14	T	C	17: 28,910,763 (GRCm39)	I17T	probably benign	Het
Mtif2	A	G	11: 29,483,401 (GRCm39)		probably benign	Het
Myo16	A	G	8: 10,619,918 (GRCm39)	T1490A	probably benign	Het
Nfasc	A	G	1: 132,539,333 (GRCm39)	V399A	probably damaging	Het
Nhsl3	A	G	4: 129,117,477 (GRCm39)	S396P	probably damaging	Het
Nobox	T	C	6: 43,284,169 (GRCm39)	K1E	probably null	Het
Nr2c1	A	T	10: 94,017,374 (GRCm39)	M371L	probably benign	Het
Oplah	C	T	15: 76,182,687 (GRCm39)	R924H	probably benign	Het
Or10ak16	C	T	4: 118,750,448 (GRCm39)	T56I	possibly damaging	Het
Or51a10	G	A	7: 103,698,979 (GRCm39)	T194I	probably benign	Het
Pappa2	C	A	1: 158,544,560 (GRCm39)	C1756F	probably damaging	Het
Pdzd8	G	A	19: 59,289,361 (GRCm39)	R680C	probably damaging	Het
Rassf3	G	A	10: 121,253,075 (GRCm39)	T44M	probably benign	Het
Rmnd1	T	C	10: 4,377,693 (GRCm39)		probably null	Het
Rnf126	C	T	10: 79,598,477 (GRCm39)		probably benign	Het
Rnf144b	T	C	13: 47,397,966 (GRCm39)	S299P	probably benign	Het
Ryr2	A	G	13: 11,848,981 (GRCm39)		probably benign	Het
Scel	T	A	14: 103,840,690 (GRCm39)	S511T	probably benign	Het
Slc16a10	G	T	10: 39,916,627 (GRCm39)	S138*	probably null	Het
Slc36a4	A	T	9: 15,645,562 (GRCm39)	I330F	probably damaging	Het
Slc5a8	A	G	10: 88,722,420 (GRCm39)	I84M	probably benign	Het
Spag9	T	C	11: 93,982,579 (GRCm39)		probably benign	Het
Suco	C	T	1: 161,662,419 (GRCm39)	V671I	probably benign	Het
Suox	G	A	10: 128,506,754 (GRCm39)	P425S	probably damaging	Het
Tmem266	T	A	9: 55,344,697 (GRCm39)	V443E	probably benign	Het
Tmprss11f	A	T	5: 86,704,870 (GRCm39)	I16N	probably benign	Het
Tnik	T	A	3: 28,625,029 (GRCm39)	Y321*	probably null	Het
Tnrc6b	T	C	15: 80,797,524 (GRCm39)	M1357T	probably benign	Het
Tpbg	C	A	9: 85,726,803 (GRCm39)	Y257*	probably null	Het
Usp37	A	T	1: 74,529,266 (GRCm39)	S138T	probably benign	Het
Veph1	T	A	3: 66,162,449 (GRCm39)	R70*	probably null	Het
Vmn2r17	C	T	5: 109,600,747 (GRCm39)	P682S	probably damaging	Het
Vmn2r79	A	C	7: 86,651,611 (GRCm39)	N337H	probably benign	Het
Vstm2b	A	G	7: 40,551,876 (GRCm39)	D68G	probably damaging	Het
Vwa7	G	T	17: 35,236,933 (GRCm39)	A167S	possibly damaging	Het
Zfp647	A	T	15: 76,795,586 (GRCm39)	I358N	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	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
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
R5865:Lrrc31	UTSW	3	30,733,289 (GRCm39)	missense	probably benign	0.01
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'- TCGCCAACCCTGATATATGCTGC -3'
(R):5'- ACATAGGAAAGTTGCCTGGAGTGC -3'

Sequencing Primer
(F):5'- GGAACGCAACTTCAGTTCCT -3'
(R):5'- tcccgccttctattctaccc -3'

Posted On

2013-05-09