Mutagenetix > Incidental Mutation

Incidental Mutation 'R8189:Lrrc38'

635013

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 #

R8189 (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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,285,726	I1531T	probably damaging	Het
Ankrd13d	G	A	19: 4,270,852	P516S	probably benign	Het
Bag6	A	G	17: 35,145,238		probably null	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
Cchcr1	A	G	17: 35,526,666	I422V	probably benign	Het
Ceacam1	A	G	7: 25,473,918	S282P	probably damaging	Het
Chka	G	T	19: 3,875,759	E159*	probably null	Het
Ckmt2	T	C	13: 91,855,775	Y368C	probably damaging	Het
Cngb1	TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG	TTCTGGCTCTGGCTCTGGCTCTGG	8: 95,303,620		probably benign	Het
Ctsq	A	G	13: 61,037,155	L239P	probably damaging	Het
D630045J12Rik	A	G	6: 38,158,171	L1358P	probably damaging	Het
Dglucy	G	A	12: 100,838,630	E127K	probably benign	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
Fgd6	T	C	10: 94,074,215	L794P	probably benign	Het
Fgfr2	G	A	7: 130,172,899	T654I	probably damaging	Het
Gmeb2	G	A	2: 181,277,967	T38M	probably damaging	Het
Gria1	T	C	11: 57,217,799	F243L	probably benign	Het
Gria2	A	T	3: 80,722,182	D244E	probably damaging	Het
Ints2	T	A	11: 86,215,570	I1005F	probably damaging	Het
Ipo11	T	A	13: 106,925,096	S19C	probably damaging	Het
Kmt2b	A	G	7: 30,569,331	F2658L	probably damaging	Het
Mcf2l	A	G	8: 12,963,164	D27G	probably damaging	Het
Mrgprb2	G	T	7: 48,552,754	Y74*	probably null	Het
Nrcam	C	A	12: 44,570,508	P740T	possibly damaging	Het
Nrxn1	C	T	17: 90,704,209	V331I	probably damaging	Het
Olfr1293-ps	T	C	2: 111,527,773	V153A		Het
Olfr172	T	A	16: 58,760,925	N84Y	probably damaging	Het
Olfr47	T	C	6: 43,236,079	V157A	probably benign	Het
Olfr472	A	G	7: 107,902,732	N5S	probably damaging	Het
Olfr792	T	A	10: 129,541,253	C239S	probably damaging	Het
Pla2g4a	A	G	1: 149,857,586	F479L	probably benign	Het
Scaper	A	T	9: 55,912,120	F104I	probably damaging	Het
Serpinb3c	A	T	1: 107,276,309	C58S	probably benign	Het
Setdb1	A	G	3: 95,346,711	V260A	probably damaging	Het
Shank3	A	G	15: 89,549,236	T1395A	probably benign	Het
Skiv2l2	T	A	13: 112,891,981	R628S	possibly damaging	Het
Slc35b4	A	G	6: 34,167,635	I95T	probably damaging	Het
Trpm5	A	G	7: 143,081,838	V599A	probably benign	Het
Ttk	A	G	9: 83,847,219	S352G	probably benign	Het
Ugt2b35	T	A	5: 87,001,443	S184R	probably damaging	Het
Usp17le	C	T	7: 104,769,348	D196N	probably damaging	Het
Vmn2r15	A	G	5: 109,286,847	F664L	probably benign	Het
Vmn2r94	A	T	17: 18,258,356	L43Q	probably 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
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'- TCTGGACCTGAGCTACAACAAC -3'
(R):5'- TTCTGGTGAGCCCCAAAAC -3'

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

Posted On

2020-07-13