Mutagenetix > Incidental Mutation

Incidental Mutation 'R8219:Lrrc38'

636536

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 #

R8219 (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: 99.5%
20x: 98.7%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,942,536	S80T	unknown	Het
Acnat1	T	A	4: 49,447,748	I278F	probably benign	Het
Adgrf5	A	T	17: 43,449,859	Q815L	probably benign	Het
Aff1	T	A	5: 103,846,333	Y1022N	probably damaging	Het
Ahi1	A	G	10: 21,074,436	K1034E	probably benign	Het
Ano8	A	T	8: 71,480,713	L645Q	unknown	Het
Atg9b	A	G	5: 24,386,332	L756P	probably damaging	Het
Atp2b2	A	T	6: 113,793,850	I411N	probably damaging	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
Bmp6	T	A	13: 38,345,987	C19S	unknown	Het
Borcs5	A	G	6: 134,644,350	H27R	probably benign	Het
C77080	T	A	4: 129,248,153	D65V	possibly damaging	Het
Cachd1	C	A	4: 100,990,962	D1091E	probably benign	Het
Ccdc186	T	A	19: 56,793,345	M801L	probably benign	Het
Clcn3	A	T	8: 60,922,966	M658K	probably damaging	Het
Col1a1	C	T	11: 94,943,358	R500C	probably damaging	Het
Cul4a	T	A	8: 13,146,540	D731E	possibly damaging	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
E2f7	T	A	10: 110,759,843	V133E	probably damaging	Het
Fam161b	T	C	12: 84,346,874	E575G	probably benign	Het
Fubp1	T	A	3: 152,220,466	V275D	probably damaging	Het
Gabrg1	T	A	5: 70,774,300	R367*	probably null	Het
Gm6902	G	A	7: 23,273,718	A128V	probably benign	Het
Gnptab	A	G	10: 88,433,792	T786A	probably benign	Het
Golga2	A	G	2: 32,306,480	N981D	probably damaging	Het
Gsap	A	T	5: 21,251,115	I437L	probably benign	Het
Gulp1	A	G	1: 44,754,341		probably null	Het
Kcnn1	T	C	8: 70,852,855	Y237C	probably damaging	Het
Klhl28	A	T	12: 64,951,657	N354K	probably benign	Het
Lama3	T	C	18: 12,439,360	Y541H	probably benign	Het
Lamc1	A	G	1: 153,247,327	Y706H	probably damaging	Het
Lima1	G	T	15: 99,780,790	T590K	probably damaging	Het
Mrgprb8	G	A	7: 48,388,901	V107M	possibly damaging	Het
Mrpl3	T	A	9: 105,057,072	N139K	possibly damaging	Het
Nudt16	T	A	9: 105,130,437	N161I	probably damaging	Het
Obscn	G	A	11: 59,122,748	S1091L	probably benign	Het
Olfr1458	A	C	19: 13,102,920	L122R	probably damaging	Het
Olfr894	A	C	9: 38,219,372	D183A	probably damaging	Het
Oog4	T	C	4: 143,439,938	M99V	probably benign	Het
Osbpl6	A	T	2: 76,555,903	D303V	probably damaging	Het
Pcdhb21	T	C	18: 37,514,655	F279S	probably damaging	Het
Peg3	G	A	7: 6,708,365	T1286I	probably benign	Het
Phax	A	G	18: 56,575,682	N106S	probably damaging	Het
Pkdrej	A	G	15: 85,821,292	Y148H	probably damaging	Het
Ptprn2	C	A	12: 117,184,737	Q706K	probably benign	Het
Rdh11	T	G	12: 79,189,106	K23Q	probably benign	Het
Rit2	T	A	18: 30,975,494	E146V	probably damaging	Het
Rnf141	T	C	7: 110,837,265		probably benign	Het
Sars	T	A	3: 108,445,062	E24V	probably benign	Het
Sh3tc2	A	G	18: 62,011,861	I1129V	probably benign	Het
Slc10a5	G	T	3: 10,335,324	P92Q	probably benign	Het
Slc24a5	A	T	2: 125,085,655		probably null	Het
Slc5a8	A	G	10: 88,921,699	Y517C	probably damaging	Het
Slc6a5	A	G	7: 49,912,163	M148V	probably benign	Het
Sorl1	T	C	9: 42,041,561		probably null	Het
Tgm4	A	T	9: 123,045,052	Y119F	probably benign	Het
Tgm6	A	G	2: 130,151,280	K562R	probably benign	Het
Tlr3	T	C	8: 45,397,979	E627G	possibly damaging	Het
Tmprss11f	A	G	5: 86,530,019	L297P	probably damaging	Het
Tpbgl	T	C	7: 99,625,771	H293R	probably benign	Het
Trank1	A	C	9: 111,364,909	K667T	probably damaging	Het
Trpm1	A	T	7: 64,201,951	Q139L	probably benign	Het
Ttf2	T	G	3: 100,962,563	K398T	possibly damaging	Het
Xpa	A	T	4: 46,183,150	M213K	probably benign	Het
Zmym2	T	A	14: 56,925,859	S623T	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
R8190:Lrrc38	UTSW	4	143350733	missense	probably damaging	1.00
R8192: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'- TTTCTGGTGAGCCCCAAAACG -3'

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

Posted On

2020-07-13