Mutagenetix > Incidental Mutations

Incidental Mutation 'R4301:Lrrc30'

322435

Institutional Source

Beutler Lab

Gene Symbol

Lrrc30

Ensembl Gene

ENSMUSG00000073375

Gene Name

leucine rich repeat containing 30

Synonyms

LOC240131

MMRRC Submission

041088-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67630965-67632723 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67632568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 6 (S6P)

Ref Sequence

ENSEMBL: ENSMUSP00000094893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097290]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000097290
AA Change: S6P

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

SMART Domains

Protein: ENSMUSP00000094893
Gene: ENSMUSG00000073375
AA Change: S6P

Domain	Start	End	E-Value	Type
LRR_TYP	69	92	1.67e-2	SMART
LRR	115	138	1.73e0	SMART
LRR	139	160	1.91e1	SMART
LRR_TYP	161	184	2.53e-2	SMART
Blast:LRR	207	229	1e-5	BLAST
LRR	230	253	3.29e-1	SMART

Meta Mutation Damage Score

0.2267

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,556,903	V95D	probably damaging	Het
Adamtsl2	A	G	2: 27,087,283	D252G	probably null	Het
Adgra3	T	C	5: 49,961,078	R1043G	possibly damaging	Het
Atxn7l1	A	G	12: 33,367,238	D562G	probably damaging	Het
Ccdc70	T	C	8: 21,973,212	V6A	possibly damaging	Het
Cdc25a	T	C	9: 109,889,742	V337A	probably benign	Het
Chil4	G	A	3: 106,203,727	P284S	possibly damaging	Het
Crb1	A	G	1: 139,248,830	S472P	probably benign	Het
Fam193b	G	A	13: 55,542,604	R740*	probably null	Het
Fer	G	T	17: 64,078,910	L292F	probably damaging	Het
Gmppa	G	A	1: 75,442,496	R349H	possibly damaging	Het
Hspa1a	T	C	17: 34,970,506	I474V	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Lzts3	A	G	2: 130,636,438	S133P	probably damaging	Het
Mkl2	T	C	16: 13,398,305	Y294H	probably damaging	Het
Mtmr12	T	A	15: 12,236,020	F122I	possibly damaging	Het
Mypn	A	G	10: 63,118,484	Y124H	probably damaging	Het
Nfat5	T	C	8: 107,355,695		probably benign	Het
Npr2	T	C	4: 43,641,332		probably null	Het
Olfr1441	T	C	19: 12,422,717	L136P	probably damaging	Het
Pgm1	G	A	5: 64,103,797	W51*	probably null	Het
Phip	G	A	9: 82,959,713	R48*	probably null	Het
Piezo2	T	C	18: 63,084,840	T1075A	probably damaging	Het
Ppat	G	T	5: 76,928,501		probably benign	Het
Ppp2r2b	T	A	18: 42,898,746	E23D	probably null	Het
Prickle1	T	C	15: 93,508,636	I169V	possibly damaging	Het
Rab37	T	A	11: 115,158,564	D95E	possibly damaging	Het
Sash1	A	G	10: 8,751,470	V50A	probably benign	Het
Siae	C	A	9: 37,633,713	Q335K	possibly damaging	Het
Snx14	A	T	9: 88,410,623	I217K	probably damaging	Het
Son	A	G	16: 91,658,411	T1349A	possibly damaging	Het
Sptb	A	G	12: 76,612,697	L1143S	probably damaging	Het
Trim80	T	C	11: 115,445,113		probably null	Het
Trpm3	T	C	19: 22,987,292	S1374P	probably benign	Het
Vldlr	C	A	19: 27,238,402	D266E	possibly damaging	Het
Vmn2r79	A	G	7: 87,001,891	H166R	possibly damaging	Het
Zbtb10	A	T	3: 9,265,160	Q526L	probably damaging	Het
Zfr2	T	C	10: 81,242,184		probably benign	Het
Zswim8	G	A	14: 20,713,909	R449H	possibly damaging	Het
Zzef1	T	C	11: 72,889,035	V1878A	probably damaging	Het

Other mutations in Lrrc30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Lrrc30	APN	17	67632039	missense	probably damaging	1.00
IGL00957:Lrrc30	APN	17	67632504	missense	probably benign	0.00
IGL02500:Lrrc30	APN	17	67631862	missense	probably damaging	1.00
R1666:Lrrc30	UTSW	17	67632205	missense	probably benign	0.39
R1769:Lrrc30	UTSW	17	67631681	makesense	probably null
R2079:Lrrc30	UTSW	17	67631880	missense	possibly damaging	0.80
R3405:Lrrc30	UTSW	17	67632180	missense	probably damaging	1.00
R3406:Lrrc30	UTSW	17	67632180	missense	probably damaging	1.00
R6399:Lrrc30	UTSW	17	67632686	start gained	probably benign
R6469:Lrrc30	UTSW	17	67631865	missense	probably benign
R7079:Lrrc30	UTSW	17	67632021	missense	possibly damaging	0.96
R7454:Lrrc30	UTSW	17	67632243	missense	probably damaging	0.97
R7611:Lrrc30	UTSW	17	67632429	missense	probably damaging	0.97
R7642:Lrrc30	UTSW	17	67632477	missense	probably damaging	1.00
R8512:Lrrc30	UTSW	17	67631952	missense	probably damaging	0.99
R9059:Lrrc30	UTSW	17	67631803	missense	probably damaging	1.00
R9198:Lrrc30	UTSW	17	67631859	missense	probably benign	0.34
X0027:Lrrc30	UTSW	17	67632459	missense	probably damaging	1.00
Z1088:Lrrc30	UTSW	17	67631695	missense	possibly damaging	0.93
Z1176:Lrrc30	UTSW	17	67632436	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCTGGACCTCCAACAAGCC -3'
(R):5'- GCTCTCCTGCAACCATGTAG -3'

Sequencing Primer
(F):5'- CAGAAAATCTGGGATGTCTGTCATTC -3'
(R):5'- GGTTTCCGACCTCGTCATCTG -3'

Posted On

2015-06-20