Mutagenetix > Incidental Mutation

Incidental Mutation 'R8226:Lrrc38'

636977

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 #

R8226 (G1)

Quality Score

225.009

Status

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: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.7%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,218,199	N27S	probably damaging	Het
Abcb1b	T	A	5: 8,821,390	Y315N	probably damaging	Het
Acy1	A	G	9: 106,437,658	I22T	probably damaging	Het
Akap11	G	A	14: 78,511,209	T1246M		Het
Akr1b3	G	C	6: 34,311,932	T114R	probably damaging	Het
Apob	G	A	12: 8,009,056	V2513I	probably benign	Het
Arhgap21	C	T	2: 20,871,745	D820N	probably damaging	Het
Arl2	A	T	19: 6,137,476		probably null	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
Bmp5	C	T	9: 75,776,324	P78S	probably damaging	Het
Cic	T	C	7: 25,287,788	C1374R	probably damaging	Het
Dennd5b	T	C	6: 149,014,248		probably null	Het
Dhx36	A	G	3: 62,470,570	Y1000H	probably benign	Het
Dnah14	A	G	1: 181,795,545	E3996G	possibly damaging	Het
Efcab6	T	C	15: 83,904,255	Y946C	probably benign	Het
Egfem1	A	G	3: 29,657,255	K328E	probably damaging	Het
F5	T	C	1: 164,194,390	V1478A	probably benign	Het
Fchsd2	C	T	7: 101,282,472	P745L	probably damaging	Het
Gm15448	A	C	7: 3,825,110	L66R		Het
Gm9573	T	C	17: 35,619,707		probably benign	Het
Grb10	G	T	11: 11,951,533	L214M	probably damaging	Het
H6pd	A	G	4: 149,995,989	V133A	probably benign	Het
Irak4	T	A	15: 94,558,363	L277Q	probably damaging	Het
Krt78	A	T	15: 101,947,045	M777K	possibly damaging	Het
Lrch4	A	G	5: 137,639,735	H93R		Het
Mga	A	G	2: 119,960,385	I2251V	probably benign	Het
Mtx3	A	G	13: 92,847,707	E164G	possibly damaging	Het
Nbeal1	A	T	1: 60,277,177	K1846N	probably damaging	Het
Nedd1	T	A	10: 92,691,935	M466L	probably benign	Het
Nr4a3	A	T	4: 48,056,588	K380M	probably damaging	Het
Nup107	T	C	10: 117,757,931	K786E	probably benign	Het
Olfr1024	T	C	2: 85,904,203	I284V	probably benign	Het
Olfr110	A	T	17: 37,498,669	Q6L	probably benign	Het
Olfr560	T	C	7: 102,753,743	Y62C	probably benign	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Pkhd1l1	A	G	15: 44,574,407	N3533D	possibly damaging	Het
Plpp1	A	T	13: 112,866,931	T230S	probably benign	Het
Plxnc1	A	C	10: 94,833,368	D1063E	possibly damaging	Het
Prokr2	C	A	2: 132,374,041	A167S	probably damaging	Het
Qser1	C	T	2: 104,788,725	A491T	probably benign	Het
Rc3h2	T	A	2: 37,376,989	Y1040F	possibly damaging	Het
Rgl2	C	T	17: 33,932,527	L182F	possibly damaging	Het
Rnf130	T	C	11: 50,071,270	V181A	probably benign	Het
Scd4	A	G	19: 44,334,133	D55G	probably benign	Het
Scn7a	T	G	2: 66,700,860	I558L	possibly damaging	Het
Serpinb7	G	A	1: 107,448,250		probably null	Het
Shtn1	T	C	19: 59,003,896	I417V	possibly damaging	Het
Svs3b	T	A	2: 164,256,220	E60D	possibly damaging	Het
Tex14	T	C	11: 87,484,759	I116T	probably damaging	Het
Trak1	C	T	9: 121,451,727	T394I	probably benign	Het
Trhde	C	T	10: 114,567,228	V497M	probably damaging	Het
Trpc2	A	G	7: 102,088,275	M425V	possibly damaging	Het
Trpm2	C	T	10: 77,947,973	R222Q	probably damaging	Het
Tuba1b	C	T	15: 98,931,710	G410S	probably benign	Het
Usp28	T	G	9: 49,015,397		probably null	Het
Vps13d	T	C	4: 145,149,290	Y1555C		Het
Wdr17	T	A	8: 54,693,120	N106Y	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
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
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

Predicted Primers

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

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

Posted On

2020-07-13