Mutagenetix > Incidental Mutation

Incidental Mutation 'R6787:Lrrc38'

532422

Institutional Source

Beutler Lab

Gene Symbol

Lrrc38

Ensembl Gene

ENSMUSG00000028584

Gene Name

leucine rich repeat containing 38

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143349757-143371032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143369794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 225 (M225K)

Ref Sequence

ENSEMBL: ENSMUSP00000053597 (fasta)

Gene Model

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

AlphaFold

A2VDH3

Predicted Effect

probably benign
Transcript: ENSMUST00000052458
AA Change: M225K

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000053597
Gene: ENSMUSG00000028584
AA Change: M225K

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

0.0985

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	A	12: 55,079,983	T32I	probably benign	Het
4930486L24Rik	T	A	13: 60,853,108	I205L	probably benign	Het
Aatk	C	T	11: 120,010,682	V963M	probably damaging	Het
Adra1b	C	A	11: 43,835,415	R225L	probably damaging	Het
Adrb1	T	C	19: 56,722,589	V73A	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
BC035947	G	T	1: 78,498,890	P335Q	possibly damaging	Het
C2cd3	T	C	7: 100,455,346	F2189L	probably benign	Het
Capn9	A	G	8: 124,616,185	I635V	probably benign	Het
Cep55	T	A	19: 38,057,926	D42E	probably benign	Het
Cftr	T	A	6: 18,274,608	Y878*	probably null	Het
Clpb	A	T	7: 101,663,659		probably benign	Het
Cpeb3	T	C	19: 37,044,689	I569V	possibly damaging	Het
Cpne6	A	T	14: 55,515,244	D297V	probably damaging	Het
Ddhd1	T	C	14: 45,657,519	T165A	probably benign	Het
Fam98b	T	C	2: 117,262,921		probably null	Het
Frem2	T	C	3: 53,654,323	N921S	probably benign	Het
Gbf1	T	A	19: 46,271,772	V1039E	probably benign	Het
Gmip	A	G	8: 69,813,786	E212G	probably damaging	Het
Gpcpd1	C	T	2: 132,537,838		probably benign	Het
Gtf2ird1	A	T	5: 134,363,912	N796K	probably damaging	Het
Hadhb	T	C	5: 30,155,249		probably benign	Het
Itga4	T	A	2: 79,289,265	S472T	probably damaging	Het
Kcna4	G	A	2: 107,295,325	E135K	possibly damaging	Het
Kmt2c	G	T	5: 25,275,739		probably null	Het
Lama1	T	C	17: 67,784,025	I1620T	unknown	Het
Lins1	A	G	7: 66,714,154	E594G	probably benign	Het
Mphosph9	A	G	5: 124,261,027	I975T	probably damaging	Het
Mrgprh	T	C	17: 12,876,987	F38S	probably benign	Het
Myo1h	G	A	5: 114,320,653	G150R	probably damaging	Het
Oas2	T	G	5: 120,738,798	I391L	possibly damaging	Het
Olfr1242	T	A	2: 89,494,034	R93*	probably null	Het
Olfr18	T	C	9: 20,335,925	D14G	probably benign	Het
Olfr497	T	C	7: 108,422,682	I37T	possibly damaging	Het
Olfr803	T	A	10: 129,691,522	D173V	possibly damaging	Het
Pdcd5	T	C	7: 35,642,638	T182A	probably damaging	Het
Pdlim7	T	C	13: 55,508,997	D48G	probably damaging	Het
Polr3b	A	C	10: 84,628,625		probably null	Het
Psmd5	C	T	2: 34,857,637		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Homo
Sdhb	T	C	4: 140,976,190	Y208H	probably damaging	Het
Serinc5	G	A	13: 92,706,232	V397I	possibly damaging	Het
Sik2	A	T	9: 50,998,534	M73K	possibly damaging	Het
Slc41a1	A	G	1: 131,842,749		probably null	Het
Slco1a1	T	C	6: 141,936,487	I119V	probably benign	Het
Srd5a1	T	C	13: 69,611,299		probably benign	Het
Stab2	T	C	10: 86,919,084	I1111V	probably benign	Het
Stxbp6	G	T	12: 44,902,996		probably null	Het
Tbc1d19	A	G	5: 53,835,249		probably null	Het
Tnxb	A	T	17: 34,710,736	T2815S	probably benign	Het
Txnip	T	A	3: 96,560,307	I363N	probably damaging	Het
Zfp442	A	T	2: 150,409,579	N134K	possibly damaging	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
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
R8190: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'- CAGGAAGTCTCCAGAGCTGAAG -3'
(R):5'- TCAGCATCAGTCTCCCTTGG -3'

Sequencing Primer
(F):5'- AGAGCTGAAGCCTGGGC -3'
(R):5'- GAGGTGGCTCAGTCATCTTCATC -3'

Posted On

2018-08-29