Mutagenetix > Incidental Mutation

Incidental Mutation 'R8512:Lrrc30'

655961

Institutional Source

Beutler Lab

Gene Symbol

Lrrc30

Ensembl Gene

ENSMUSG00000073375

Gene Name

leucine rich repeat containing 30

Synonyms

LOC240131

MMRRC Submission

067846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8512 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67937960-67939718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67938947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 211 (Q211L)

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: Q211L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000094893
Gene: ENSMUSG00000073375
AA Change: Q211L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,125,760 (GRCm39)		probably null	Het
Akap13	T	C	7: 75,260,834 (GRCm39)	S350P	probably damaging	Het
Celsr2	A	G	3: 108,321,154 (GRCm39)	F553L	probably damaging	Het
Ces3a	A	T	8: 105,784,661 (GRCm39)	T548S	probably benign	Het
Chtf8	G	A	8: 107,612,066 (GRCm39)	T291I	probably benign	Het
Ckmt1	A	T	2: 121,191,689 (GRCm39)	R286S	probably damaging	Het
Dnajb2	C	T	1: 75,218,075 (GRCm39)	R191W		Het
Dtnbp1	G	T	13: 45,075,867 (GRCm39)	A292E	probably benign	Het
Esrrg	T	G	1: 187,775,777 (GRCm39)	Y101*	probably null	Het
Etaa1	G	A	11: 17,897,442 (GRCm39)	S225L	probably damaging	Het
Evi5l	A	G	8: 4,243,121 (GRCm39)	Y335C	probably benign	Het
Fcho2	T	C	13: 98,891,730 (GRCm39)	D344G	possibly damaging	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gsdmc2	C	T	15: 63,706,864 (GRCm39)	V101I	probably null	Het
Gsdmc4	A	G	15: 63,763,808 (GRCm39)	C430R	probably damaging	Het
Irak4	A	C	15: 94,464,659 (GRCm39)	I410L	probably benign	Het
Kirrel1	A	G	3: 86,995,534 (GRCm39)	V436A	probably benign	Het
Map4k1	C	T	7: 28,695,583 (GRCm39)	H512Y	possibly damaging	Het
Matn3	T	A	12: 9,011,183 (GRCm39)	S365T	probably benign	Het
Msantd2	T	C	9: 37,434,231 (GRCm39)	I358T	possibly damaging	Het
Msantd5	T	A	11: 51,125,487 (GRCm39)	S137T	probably benign	Het
Msx3	G	T	7: 139,628,884 (GRCm39)	A10E	probably benign	Het
Muc16	T	C	9: 18,549,488 (GRCm39)	T5602A	probably benign	Het
Myh2	T	C	11: 67,081,187 (GRCm39)	S1268P	probably benign	Het
Mynn	C	T	3: 30,670,798 (GRCm39)	P557S	probably damaging	Het
Naglu	T	C	11: 100,961,168 (GRCm39)	V73A	probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Or10al3	T	A	17: 38,012,071 (GRCm39)	F170Y	probably damaging	Het
Or6c75	T	A	10: 129,337,496 (GRCm39)	S240T	probably damaging	Het
P2rx3	C	T	2: 84,854,755 (GRCm39)	E100K	probably damaging	Het
Pnisr	C	T	4: 21,870,372 (GRCm39)	Q375*	probably null	Het
Psmb9	C	T	17: 34,402,602 (GRCm39)	C126Y	probably benign	Het
Ptprt	A	G	2: 161,400,783 (GRCm39)	F1085L	probably benign	Het
Rev3l	A	G	10: 39,697,534 (GRCm39)	Y677C	probably damaging	Het
Rftn2	G	A	1: 55,253,324 (GRCm39)	P93L	probably damaging	Het
Rtl1	T	A	12: 109,561,051 (GRCm39)	M263L	unknown	Het
Sec24c	T	C	14: 20,740,920 (GRCm39)	V722A	possibly damaging	Het
Slc2a7	T	C	4: 150,247,752 (GRCm39)	L384P	probably benign	Het
Slc6a11	T	C	6: 114,215,402 (GRCm39)	L434P	probably damaging	Het
Sptb	T	C	12: 76,648,826 (GRCm39)	E1869G	possibly damaging	Het
Susd2	G	A	10: 75,475,485 (GRCm39)	T473I	probably benign	Het
Synpo	C	T	18: 60,735,483 (GRCm39)	R821H	probably damaging	Het
Tdrd9	G	A	12: 112,012,627 (GRCm39)	V1184I	probably benign	Het
Tle1	T	G	4: 72,040,670 (GRCm39)	K630Q	possibly damaging	Het
Traf3	A	T	12: 111,228,426 (GRCm39)	T546S	probably benign	Het
Ttc17	G	A	2: 94,202,108 (GRCm39)	T398M	probably damaging	Het
Ttn	G	C	2: 76,698,692 (GRCm39)	N136K		Het
Ttn	T	C	2: 76,747,111 (GRCm39)	E4646G	probably benign	Het
Xbp1	T	C	11: 5,474,266 (GRCm39)	S156P	probably damaging	Het
Yipf7	C	T	5: 69,674,387 (GRCm39)	V253I	probably benign	Het

Other mutations in Lrrc30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Lrrc30	APN	17	67,939,034 (GRCm39)	missense	probably damaging	1.00
IGL00957:Lrrc30	APN	17	67,939,499 (GRCm39)	missense	probably benign	0.00
IGL02500:Lrrc30	APN	17	67,938,857 (GRCm39)	missense	probably damaging	1.00
R1666:Lrrc30	UTSW	17	67,939,200 (GRCm39)	missense	probably benign	0.39
R1769:Lrrc30	UTSW	17	67,938,676 (GRCm39)	makesense	probably null
R2079:Lrrc30	UTSW	17	67,938,875 (GRCm39)	missense	possibly damaging	0.80
R3405:Lrrc30	UTSW	17	67,939,175 (GRCm39)	missense	probably damaging	1.00
R3406:Lrrc30	UTSW	17	67,939,175 (GRCm39)	missense	probably damaging	1.00
R4301:Lrrc30	UTSW	17	67,939,563 (GRCm39)	missense	probably damaging	1.00
R6399:Lrrc30	UTSW	17	67,939,681 (GRCm39)	start gained	probably benign
R6469:Lrrc30	UTSW	17	67,938,860 (GRCm39)	missense	probably benign
R7079:Lrrc30	UTSW	17	67,939,016 (GRCm39)	missense	possibly damaging	0.96
R7454:Lrrc30	UTSW	17	67,939,238 (GRCm39)	missense	probably damaging	0.97
R7611:Lrrc30	UTSW	17	67,939,424 (GRCm39)	missense	probably damaging	0.97
R7642:Lrrc30	UTSW	17	67,939,472 (GRCm39)	missense	probably damaging	1.00
R9059:Lrrc30	UTSW	17	67,938,798 (GRCm39)	missense	probably damaging	1.00
R9198:Lrrc30	UTSW	17	67,938,854 (GRCm39)	missense	probably benign	0.34
R9638:Lrrc30	UTSW	17	67,939,226 (GRCm39)	missense	probably damaging	0.99
X0027:Lrrc30	UTSW	17	67,939,454 (GRCm39)	missense	probably damaging	1.00
Z1088:Lrrc30	UTSW	17	67,938,690 (GRCm39)	missense	possibly damaging	0.93
Z1176:Lrrc30	UTSW	17	67,939,431 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGCAGCCCTTTGTCCATG -3'
(R):5'- CTCAACATGAACTGCCTGGC -3'

Sequencing Primer
(F):5'- TGGGGTTCCACGCAATC -3'
(R):5'- TGAGCATGTCGCACAACTG -3'

Posted On

2020-10-20