Mutagenetix > Incidental Mutation

Incidental Mutation 'R1534:Lrrc18'

166843

Institutional Source

Beutler Lab

Gene Symbol

Lrrc18

Ensembl Gene

ENSMUSG00000041673

Gene Name

leucine rich repeat containing 18

Synonyms

4930442L21Rik, mtLR1

MMRRC Submission

039573-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32713339-32737248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32730478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 6 (K6E)

Ref Sequence

ENSEMBL: ENSMUSP00000113825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038956] [ENSMUST00000061753] [ENSMUST00000120588] [ENSMUST00000120866] [ENSMUST00000120951] [ENSMUST00000123822] [ENSMUST00000130509]

AlphaFold

Q9CQ07

Predicted Effect

probably benign
Transcript: ENSMUST00000038956
AA Change: K6E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041199
Gene: ENSMUSG00000041673
AA Change: K6E

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
LRR	49	71	3.27e1	SMART
LRR	72	95	1.31e0	SMART
Pfam:LRR_7	96	114	3.5e-2	PFAM
LRR	120	142	1.26e2	SMART
LRR	143	166	1.49e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061753

SMART Domains

Protein: ENSMUSP00000057556
Gene: ENSMUSG00000051506

Domain	Start	End	E-Value	Type
low complexity region	69	77	N/A	INTRINSIC
low complexity region	204	222	N/A	INTRINSIC
low complexity region	508	522	N/A	INTRINSIC
low complexity region	618	632	N/A	INTRINSIC
low complexity region	644	661	N/A	INTRINSIC
low complexity region	1585	1604	N/A	INTRINSIC
low complexity region	1899	1909	N/A	INTRINSIC
Pfam:PH_BEACH	2237	2348	1.2e-9	PFAM
Beach	2378	2660	3.69e-196	SMART
WD40	2761	2801	1.98e1	SMART
WD40	2811	2850	5.18e-7	SMART
WD40	2853	2891	9.94e-1	SMART
WD40	2893	2940	3.17e-2	SMART
WD40	2986	3021	3.31e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120588
AA Change: K6E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113825
Gene: ENSMUSG00000041673
AA Change: K6E

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120866
AA Change: K6E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113608
Gene: ENSMUSG00000041673
AA Change: K6E

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
LRR	49	71	3.27e1	SMART
LRR	72	95	1.31e0	SMART
Pfam:LRR_7	96	114	5.3e-2	PFAM
LRR	120	142	1.26e2	SMART
LRR	143	166	1.49e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120951
AA Change: K6E

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113965
Gene: ENSMUSG00000041673
AA Change: K6E

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
LRR	49	71	3.27e1	SMART
LRR	72	95	1.31e0	SMART
LRR	120	142	1.26e2	SMART
LRR	143	166	1.49e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123822
AA Change: K6E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123178
Gene: ENSMUSG00000041673
AA Change: K6E

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
LRR	49	71	3.27e1	SMART
LRR	72	95	1.31e0	SMART
Pfam:LRR_7	96	110	4.6e-2	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123910

Predicted Effect

probably benign
Transcript: ENSMUST00000130509

SMART Domains

Protein: ENSMUSP00000117068
Gene: ENSMUSG00000051506

Domain	Start	End	E-Value	Type
low complexity region	69	77	N/A	INTRINSIC
low complexity region	204	222	N/A	INTRINSIC
low complexity region	508	522	N/A	INTRINSIC
low complexity region	618	632	N/A	INTRINSIC
low complexity region	644	661	N/A	INTRINSIC
low complexity region	1596	1615	N/A	INTRINSIC
low complexity region	1795	1819	N/A	INTRINSIC
low complexity region	2019	2029	N/A	INTRINSIC
Pfam:PH_BEACH	2362	2473	1.2e-9	PFAM
Beach	2503	2785	3.69e-196	SMART
WD40	2886	2926	1.98e1	SMART
WD40	2936	2975	5.18e-7	SMART
WD40	2978	3016	9.94e-1	SMART
WD40	3018	3065	3.17e-2	SMART
WD40	3111	3146	3.31e0	SMART

Meta Mutation Damage Score

0.2004

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,345,881 (GRCm39)	I310T	probably damaging	Het
Adcy5	T	C	16: 35,073,629 (GRCm39)	V469A	possibly damaging	Het
Agrn	C	T	4: 156,261,141 (GRCm39)	C652Y	probably damaging	Het
Ankfn1	C	T	11: 89,413,977 (GRCm39)	V133M	probably damaging	Het
Ankrd13c	A	G	3: 157,706,757 (GRCm39)	T448A	probably benign	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
B4galt2	T	C	4: 117,734,669 (GRCm39)	H233R	probably damaging	Het
Bpifb5	T	G	2: 154,071,419 (GRCm39)	Y249D	possibly damaging	Het
Brd1	T	C	15: 88,573,866 (GRCm39)	I1078V	possibly damaging	Het
Celsr3	A	G	9: 108,726,083 (GRCm39)	E3104G	probably damaging	Het
Cyp2c69	T	A	19: 39,839,593 (GRCm39)	K343N	probably benign	Het
Cyp4f18	T	A	8: 72,746,799 (GRCm39)	D331V	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,378 (GRCm39)	V261A	possibly damaging	Het
Dchs1	T	C	7: 105,421,247 (GRCm39)	D391G	probably damaging	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,944,238 (GRCm39)	F1044L	probably damaging	Het
Frrs1	A	T	3: 116,672,057 (GRCm39)	T52S	probably benign	Het
Gan	G	A	8: 117,914,168 (GRCm39)	V189I	probably benign	Het
Hnf1b	A	G	11: 83,784,409 (GRCm39)		probably benign	Het
Itgae	T	C	11: 73,036,431 (GRCm39)	I1123T	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Map2	G	A	1: 66,452,339 (GRCm39)	V492I	probably benign	Het
Mtr	A	T	13: 12,250,430 (GRCm39)		probably benign	Het
Ncor1	G	T	11: 62,269,330 (GRCm39)	A689E	possibly damaging	Het
Or52n2c	G	A	7: 104,574,621 (GRCm39)	L117F	possibly damaging	Het
Or5w22	T	A	2: 87,363,016 (GRCm39)	V213D	probably damaging	Het
Palm	T	G	10: 79,652,737 (GRCm39)	V42G	probably damaging	Het
Pcm1	G	A	8: 41,740,738 (GRCm39)	V995I	probably benign	Het
Pfkp	A	G	13: 6,669,574 (GRCm39)	V215A	probably damaging	Het
Prkg2	T	C	5: 99,142,420 (GRCm39)	Y238C	probably damaging	Het
Prr14	C	T	7: 127,073,154 (GRCm39)	A167V	probably benign	Het
Ptprn	A	C	1: 75,234,587 (GRCm39)		probably null	Het
Rexo2	A	T	9: 48,380,190 (GRCm39)	I214N	probably damaging	Het
Rrbp1	A	G	2: 143,830,233 (GRCm39)	S645P	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Satb2	A	T	1: 56,987,392 (GRCm39)	C64*	probably null	Het
Sez6	A	G	11: 77,853,871 (GRCm39)	Y347C	probably damaging	Het
Sos2	A	G	12: 69,663,729 (GRCm39)	I585T	probably damaging	Het
Spg11	G	A	2: 121,922,806 (GRCm39)	T881M	probably damaging	Het
Tiam1	A	T	16: 89,664,396 (GRCm39)		probably null	Het
Tlcd5	A	G	9: 43,022,923 (GRCm39)	W126R	probably damaging	Het
Top1	T	C	2: 160,556,152 (GRCm39)	I537T	probably damaging	Het
Trappc6a	A	G	7: 19,248,138 (GRCm39)	S33G	probably benign	Het
Tspan11	G	C	6: 127,926,768 (GRCm39)	V239L	probably benign	Het
Ubr4	T	C	4: 139,155,462 (GRCm39)	V2190A	possibly damaging	Het
Usp28	A	G	9: 48,896,806 (GRCm39)	D9G	possibly damaging	Het
Uty	A	G	Y: 1,245,440 (GRCm39)	V35A	probably benign	Het
Vmn2r56	A	G	7: 12,427,954 (GRCm39)	S771P	probably benign	Het
Wars2	C	T	3: 99,124,177 (GRCm39)	A346V	probably damaging	Het
Wdr87-ps	G	T	7: 29,229,854 (GRCm39)		noncoding transcript	Het
Zfp142	G	T	1: 74,611,247 (GRCm39)	N849K	probably benign	Het
Zfp180	A	T	7: 23,800,948 (GRCm39)	N66I	probably benign	Het

Other mutations in Lrrc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0453:Lrrc18	UTSW	14	32,730,608 (GRCm39)	missense	probably damaging	1.00
R0505:Lrrc18	UTSW	14	32,731,096 (GRCm39)	missense	probably benign	0.00
R1487:Lrrc18	UTSW	14	32,730,640 (GRCm39)	missense	probably damaging	1.00
R6270:Lrrc18	UTSW	14	32,731,078 (GRCm39)	missense	probably benign
R6882:Lrrc18	UTSW	14	32,730,646 (GRCm39)	missense	probably benign	0.05
R7805:Lrrc18	UTSW	14	32,730,973 (GRCm39)	missense	probably damaging	0.99
R7904:Lrrc18	UTSW	14	32,731,052 (GRCm39)	missense	probably benign	0.00
R9663:Lrrc18	UTSW	14	32,731,021 (GRCm39)	missense	probably benign
X0063:Lrrc18	UTSW	14	32,730,917 (GRCm39)	missense	probably benign	0.11
Z1088:Lrrc18	UTSW	14	32,730,467 (GRCm39)	missense	probably damaging	0.99
Z1176:Lrrc18	UTSW	14	32,731,157 (GRCm39)	missense	probably benign	0.41
Z1177:Lrrc18	UTSW	14	32,730,845 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTGCCTCTAACATCTGGGAAACTG -3'
(R):5'- GTCAGCCTGTTGTTGCTCACATTG -3'

Sequencing Primer
(F):5'- TTATCATGGGGGTCACAGCAC -3'
(R):5'- CAGGGAGCTTGTCAATATAGTTACTG -3'

Posted On

2014-04-13