Mutagenetix > Incidental Mutation

Incidental Mutation 'R8190:Lrrc38'

635060

Institutional Source

Beutler Lab

Gene Symbol

Lrrc38

Ensembl Gene

ENSMUSG00000028584

Gene Name

leucine rich repeat containing 38

Synonyms

MMRRC Submission

067613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143349757-143371032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 143350733 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 189 (G189R)

Ref Sequence

ENSEMBL: ENSMUSP00000053597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052458]

AlphaFold

A2VDH3

Predicted Effect

probably damaging
Transcript: ENSMUST00000052458
AA Change: G189R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053597
Gene: ENSMUSG00000028584
AA Change: G189R

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
LRRNT	31	64	2.82e-4	SMART
LRR	84	106	1.37e1	SMART
LRR	108	130	5.26e0	SMART
LRR	132	154	2.27e1	SMART
LRR	155	178	8.09e-1	SMART
LRRCT	190	244	8.63e-6	SMART
transmembrane domain	252	274	N/A	INTRINSIC
low complexity region	288	298	N/A	INTRINSIC

Meta Mutation Damage Score

0.1238

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,984,073	V113A	possibly damaging	Het
Adcy7	A	G	8: 88,311,038	M245V	possibly damaging	Het
Adgra1	G	T	7: 139,876,118	R554L	probably benign	Het
Agfg2	T	A	5: 137,655,402	M351L	probably benign	Het
Ahnak	G	A	19: 9,002,255	G301D	probably benign	Het
Ambra1	C	T	2: 91,772,352	A227V	possibly damaging	Het
Ankrd24	T	A	10: 81,638,318	D166E	unknown	Het
Anks1	C	T	17: 27,986,804	P341S	probably benign	Het
Ano4	C	T	10: 88,972,745	D766N	probably benign	Het
Apol7e	A	T	15: 77,717,807	T202S	possibly damaging	Het
Arhgap44	C	A	11: 65,038,653	C275F	probably damaging	Het
Arl6ip4	A	C	5: 124,117,032	K95T	probably damaging	Het
Bbs9	T	C	9: 22,678,988	L674P	probably damaging	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
Bmp4	T	A	14: 46,384,515	M191L	probably benign	Het
Celsr1	A	G	15: 85,902,889	L2753P	probably damaging	Het
Cerkl	T	A	2: 79,333,557	H473L	probably benign	Het
Cfap99	A	T	5: 34,325,158	T538S	possibly damaging	Het
Clock	A	T	5: 76,227,204	V706E	probably damaging	Het
Cpne6	T	C	14: 55,512,028	M15T	probably benign	Het
Deaf1	T	C	7: 141,314,411	D351G	probably damaging	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
Eif3j1	A	T	2: 122,047,488	D119V	probably damaging	Het
Eps8l1	C	A	7: 4,471,298	S195Y	probably benign	Het
Exosc5	T	C	7: 25,666,344		probably null	Het
Fabp2	A	T	3: 122,896,770	H34L	probably benign	Het
Fbln5	T	A	12: 101,757,296	Q382L	probably damaging	Het
Fbxo34	C	A	14: 47,530,422	T464K	possibly damaging	Het
Fndc8	T	G	11: 82,897,860	V172G	probably damaging	Het
Frs2	C	T	10: 117,074,879	V193I	possibly damaging	Het
Gadd45a	A	G	6: 67,036,829	I44T	possibly damaging	Het
Gprin3	A	G	6: 59,354,471	S284P	possibly damaging	Het
Gsta4	T	C	9: 78,198,372	V28A	possibly damaging	Het
Herc1	T	A	9: 66,418,451	D1402E	probably benign	Het
Hipk2	A	T	6: 38,818,793	S180R	possibly damaging	Het
Hrg	A	T	16: 22,961,043	H357L	unknown	Het
Htr4	A	G	18: 62,437,900	Q342R	possibly damaging	Het
Impa1	A	G	3: 10,321,628	S184P	possibly damaging	Het
Iqgap3	A	T	3: 88,090,779	Q281L	probably damaging	Het
Kcnh8	C	T	17: 52,956,908	P811L	probably damaging	Het
Lpin1	T	C	12: 16,549,002	I628V		Het
Mfn1	A	T	3: 32,568,389	I599F	possibly damaging	Het
Nalcn	T	A	14: 123,599,939	R4S	possibly damaging	Het
Nbeal2	C	T	9: 110,626,090	R2580Q	probably benign	Het
Nlrp4b	A	G	7: 10,714,392	N174S	probably damaging	Het
Olfr399	T	A	11: 74,054,479	R93S	probably benign	Het
Olfr487	A	G	7: 108,211,807	F241L	possibly damaging	Het
Olfr68	A	T	7: 103,777,595	V250D	probably damaging	Het
Olfr735	A	T	14: 50,345,722	V240D	probably damaging	Het
Pabpc2	G	A	18: 39,775,467	R595Q	probably benign	Het
Pak6	C	T	2: 118,690,097	Q190*	probably null	Het
Pds5a	A	T	5: 65,623,998	H1046Q	probably damaging	Het
Plin1	A	G	7: 79,723,280	S314P	probably benign	Het
Ptpa	G	A	2: 30,438,339	S224N	probably damaging	Het
Rbp1	T	G	9: 98,444,656	W107G	probably damaging	Het
Rgs7bp	T	C	13: 105,053,109	N61D	probably damaging	Het
Slc1a6	A	G	10: 78,791,233	T135A	probably damaging	Het
Smarcc1	T	A	9: 110,202,534	D783E	probably benign	Het
Sufu	G	T	19: 46,401,197	E86*	probably null	Het
Synm	A	T	7: 67,733,906	M1336K	probably benign	Het
Tgm1	C	T	14: 55,704,884	G670D	probably damaging	Het
Tmc8	T	G	11: 117,791,360		probably null	Het
Togaram1	T	C	12: 65,006,912	V1322A	probably damaging	Het
Uxs1	A	T	1: 43,771,751	I225K	possibly damaging	Het
Vil1	G	T	1: 74,434,893	E796*	probably null	Het
Vmn1r174	T	C	7: 23,754,143	F78S	probably damaging	Het
Vps13d	T	A	4: 145,152,751	I1501F		Het
Vps8	A	T	16: 21,575,030	T1216S	possibly damaging	Het
Yipf4	G	T	17: 74,493,972	R95L	probably damaging	Het
Zan	T	A	5: 137,467,084	T470S	probably damaging	Het
Zfp113	G	T	5: 138,144,996	H331N	probably damaging	Het
Zfp62	A	G	11: 49,216,075	Y331C	probably damaging	Het
Zfyve26	T	C	12: 79,280,836	H580R	probably benign	Het

Other mutations in Lrrc38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0281:Lrrc38	UTSW	4	143350409	missense	probably damaging	0.99
R0545:Lrrc38	UTSW	4	143350758	missense	probably benign	0.41
R1078:Lrrc38	UTSW	4	143350518	missense	probably benign	0.06
R1467:Lrrc38	UTSW	4	143369880	missense	probably damaging	1.00
R1467:Lrrc38	UTSW	4	143369880	missense	probably damaging	1.00
R1967:Lrrc38	UTSW	4	143369983	missense	unknown
R2221:Lrrc38	UTSW	4	143369849	nonsense	probably null
R2223:Lrrc38	UTSW	4	143369849	nonsense	probably null
R4061:Lrrc38	UTSW	4	143350506	missense	probably damaging	1.00
R4930:Lrrc38	UTSW	4	143369868	missense	probably damaging	0.98
R5585:Lrrc38	UTSW	4	143350391	missense	probably damaging	0.96
R6787:Lrrc38	UTSW	4	143369794	missense	probably benign	0.18
R7046:Lrrc38	UTSW	4	143350169	start codon destroyed	probably null
R7706:Lrrc38	UTSW	4	143350275	missense	probably damaging	1.00
R8189:Lrrc38	UTSW	4	143350733	missense	probably damaging	1.00
R8192:Lrrc38	UTSW	4	143350733	missense	probably damaging	1.00
R8219:Lrrc38	UTSW	4	143350733	missense	probably damaging	1.00
R8221:Lrrc38	UTSW	4	143350733	missense	probably damaging	1.00
R8223:Lrrc38	UTSW	4	143350733	missense	probably damaging	1.00
R8226:Lrrc38	UTSW	4	143350733	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACCTGAGCTACAACAAC -3'
(R):5'- CTTTCTGGTGAGCCCCAAAAC -3'

Sequencing Primer
(F):5'- CAACCTCACCCAGCTGG -3'
(R):5'- CGAGGCCTCACACATCCTG -3'

Posted On

2020-07-13