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

A230053A07Rik

MMRRC Submission

067612-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R8189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143076327-143097602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 143077303 bp (GRCm39)

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: 71,324,885 (GRCm39)	I1531T	probably damaging	Het
Ankrd13d	G	A	19: 4,320,880 (GRCm39)	P516S	probably benign	Het
Bag6	A	G	17: 35,364,214 (GRCm39)		probably null	Het
Cchcr1	A	G	17: 35,837,563 (GRCm39)	I422V	probably benign	Het
Ceacam1	A	G	7: 25,173,343 (GRCm39)	S282P	probably damaging	Het
Chka	G	T	19: 3,925,759 (GRCm39)	E159*	probably null	Het
Ckmt2	T	C	13: 92,003,894 (GRCm39)	Y368C	probably damaging	Het
Cngb1	TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG	TTCTGGCTCTGGCTCTGGCTCTGG	8: 96,030,248 (GRCm39)		probably benign	Het
Ctsq	A	G	13: 61,184,969 (GRCm39)	L239P	probably damaging	Het
D630045J12Rik	A	G	6: 38,135,106 (GRCm39)	L1358P	probably damaging	Het
Dglucy	G	A	12: 100,804,889 (GRCm39)	E127K	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Fgd6	T	C	10: 93,910,077 (GRCm39)	L794P	probably benign	Het
Fgfr2	G	A	7: 129,774,629 (GRCm39)	T654I	probably damaging	Het
Gmeb2	G	A	2: 180,919,760 (GRCm39)	T38M	probably damaging	Het
Gria1	T	C	11: 57,108,625 (GRCm39)	F243L	probably benign	Het
Gria2	A	T	3: 80,629,489 (GRCm39)	D244E	probably damaging	Het
Ints2	T	A	11: 86,106,396 (GRCm39)	I1005F	probably damaging	Het
Ipo11	T	A	13: 107,061,604 (GRCm39)	S19C	probably damaging	Het
Kmt2b	A	G	7: 30,268,756 (GRCm39)	F2658L	probably damaging	Het
Mcf2l	A	G	8: 13,013,164 (GRCm39)	D27G	probably damaging	Het
Mrgprb2	G	T	7: 48,202,502 (GRCm39)	Y74*	probably null	Het
Mtrex	T	A	13: 113,028,515 (GRCm39)	R628S	possibly damaging	Het
Nrcam	C	A	12: 44,617,291 (GRCm39)	P740T	possibly damaging	Het
Nrxn1	C	T	17: 91,011,637 (GRCm39)	V331I	probably damaging	Het
Or2a57	T	C	6: 43,213,013 (GRCm39)	V157A	probably benign	Het
Or4f17-ps1	T	C	2: 111,358,118 (GRCm39)	V153A		Het
Or5k1b	T	A	16: 58,581,288 (GRCm39)	N84Y	probably damaging	Het
Or5p52	A	G	7: 107,501,939 (GRCm39)	N5S	probably damaging	Het
Or6c66b	T	A	10: 129,377,122 (GRCm39)	C239S	probably damaging	Het
Pla2g4a	A	G	1: 149,733,337 (GRCm39)	F479L	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Scaper	A	T	9: 55,819,404 (GRCm39)	F104I	probably damaging	Het
Serpinb3c	A	T	1: 107,204,039 (GRCm39)	C58S	probably benign	Het
Setdb1	A	G	3: 95,254,022 (GRCm39)	V260A	probably damaging	Het
Shank3	A	G	15: 89,433,439 (GRCm39)	T1395A	probably benign	Het
Slc35b4	A	G	6: 34,144,570 (GRCm39)	I95T	probably damaging	Het
Trpm5	A	G	7: 142,635,575 (GRCm39)	V599A	probably benign	Het
Ttk	A	G	9: 83,729,272 (GRCm39)	S352G	probably benign	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Usp17le	C	T	7: 104,418,555 (GRCm39)	D196N	probably damaging	Het
Vmn2r15	A	G	5: 109,434,713 (GRCm39)	F664L	probably benign	Het
Vmn2r94	A	T	17: 18,478,618 (GRCm39)	L43Q	probably damaging	Het

Other mutations in Lrrc38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0281:Lrrc38	UTSW	4	143,076,979 (GRCm39)	missense	probably damaging	0.99
R0545:Lrrc38	UTSW	4	143,077,328 (GRCm39)	missense	probably benign	0.41
R1078:Lrrc38	UTSW	4	143,077,088 (GRCm39)	missense	probably benign	0.06
R1467:Lrrc38	UTSW	4	143,096,450 (GRCm39)	missense	probably damaging	1.00
R1467:Lrrc38	UTSW	4	143,096,450 (GRCm39)	missense	probably damaging	1.00
R1967:Lrrc38	UTSW	4	143,096,553 (GRCm39)	missense	unknown
R2221:Lrrc38	UTSW	4	143,096,419 (GRCm39)	nonsense	probably null
R2223:Lrrc38	UTSW	4	143,096,419 (GRCm39)	nonsense	probably null
R4061:Lrrc38	UTSW	4	143,077,076 (GRCm39)	missense	probably damaging	1.00
R4930:Lrrc38	UTSW	4	143,096,438 (GRCm39)	missense	probably damaging	0.98
R5585:Lrrc38	UTSW	4	143,076,961 (GRCm39)	missense	probably damaging	0.96
R6787:Lrrc38	UTSW	4	143,096,364 (GRCm39)	missense	probably benign	0.18
R7046:Lrrc38	UTSW	4	143,076,739 (GRCm39)	start codon destroyed	probably null
R7706:Lrrc38	UTSW	4	143,076,845 (GRCm39)	missense	probably damaging	1.00
R8190:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00
R8192:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00
R8219:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00
R8221:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00
R8223:Lrrc38	UTSW	4	143,077,303 (GRCm39)	missense	probably damaging	1.00
R8226:Lrrc38	UTSW	4	143,077,303 (GRCm39)	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