Mutagenetix > Incidental Mutation

Incidental Mutation 'R7805:Lrrc18'

600735

Institutional Source

Beutler Lab

Gene Symbol

Lrrc18

Ensembl Gene

ENSMUSG00000041673

Gene Name

leucine rich repeat containing 18

Synonyms

4930442L21Rik, mtLR1

MMRRC Submission

045860-MU

Accession Numbers

Essential gene?

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

Stock #

R7805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32713339-32737248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32730973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 171 (K171E)

Ref Sequence

ENSEMBL: ENSMUSP00000041199 (fasta)

Gene Model

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

AlphaFold

Q9CQ07

Predicted Effect

probably damaging
Transcript: ENSMUST00000038956
AA Change: K171E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041199
Gene: ENSMUSG00000041673
AA Change: K171E

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

probably benign
Transcript: ENSMUST00000120588

SMART Domains

Protein: ENSMUSP00000113825
Gene: ENSMUSG00000041673

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120866
AA Change: K171E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113608
Gene: ENSMUSG00000041673
AA Change: K171E

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 damaging
Transcript: ENSMUST00000120951
AA Change: K171E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113965
Gene: ENSMUSG00000041673
AA Change: K171E

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

SMART Domains

Protein: ENSMUSP00000123178
Gene: ENSMUSG00000041673

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,624,128 (GRCm39)		probably null	Het
Aida	A	G	1: 183,085,633 (GRCm39)	K44R	probably damaging	Het
Ano5	G	A	7: 51,187,548 (GRCm39)	V79M	probably damaging	Het
Armc9	G	A	1: 86,124,041 (GRCm39)	G405D	probably damaging	Het
Baat	T	A	4: 49,490,327 (GRCm39)	R252S	probably benign	Het
C9orf72	G	T	4: 35,194,170 (GRCm39)	H372Q		Het
Camkk2	G	T	5: 122,880,275 (GRCm39)	T447K	possibly damaging	Het
Car2	A	G	3: 14,965,130 (GRCm39)	I255V	probably benign	Het
Cdhr1	A	T	14: 36,803,502 (GRCm39)	S525T	probably benign	Het
Col24a1	T	C	3: 145,019,901 (GRCm39)	Y91H	probably benign	Het
Cryba1	C	A	11: 77,613,434 (GRCm39)		probably null	Het
Csmd2	G	A	4: 128,313,366 (GRCm39)	E1348K		Het
Dcst1	A	G	3: 89,260,068 (GRCm39)	L592P	probably damaging	Het
Ddx17	A	G	15: 79,421,723 (GRCm39)	I334T	probably damaging	Het
Dspp	A	T	5: 104,323,259 (GRCm39)	N134I	probably damaging	Het
Eif4g3	T	C	4: 137,873,665 (GRCm39)	V535A	probably benign	Het
Erc1	T	C	6: 119,690,732 (GRCm39)	E847G	possibly damaging	Het
Fancc	A	G	13: 63,508,056 (GRCm39)	S160P	possibly damaging	Het
Fndc9	C	T	11: 46,129,138 (GRCm39)	A219V	probably damaging	Het
Ifitm1	G	A	7: 140,548,282 (GRCm39)	W38*	probably null	Het
Iqch	A	G	9: 63,329,002 (GRCm39)		probably null	Het
Krt9	T	C	11: 100,083,522 (GRCm39)	R170G	possibly damaging	Het
Lama4	T	C	10: 38,902,747 (GRCm39)		probably null	Het
Magi1	A	G	6: 93,659,927 (GRCm39)	S1007P	probably benign	Het
Muc16	T	A	9: 18,549,789 (GRCm39)	L5501F	possibly damaging	Het
Nrxn2	A	G	19: 6,581,736 (GRCm39)	N1557S	probably benign	Het
Or5g25	A	T	2: 85,477,794 (GRCm39)	Y290*	probably null	Het
Ovgp1	A	G	3: 105,894,110 (GRCm39)	T628A	unknown	Het
Pld5	A	T	1: 175,872,480 (GRCm39)	L219Q	probably damaging	Het
Rabggta	G	A	14: 55,956,969 (GRCm39)	T273I	probably benign	Het
Rnf208	A	G	2: 25,133,912 (GRCm39)	D202G	probably damaging	Het
Sacs	A	G	14: 61,441,040 (GRCm39)	N1029D	not run	Het
Sema6b	T	A	17: 56,438,555 (GRCm39)	I114F	probably damaging	Het
Sgpp1	A	G	12: 75,769,451 (GRCm39)	I239T	probably damaging	Het
Slc12a3	A	G	8: 95,071,515 (GRCm39)	N638S	probably damaging	Het
Slc39a11	T	C	11: 113,482,781 (GRCm39)		probably null	Het
Smc3	T	C	19: 53,629,390 (GRCm39)	S948P	probably benign	Het
Snx24	T	A	18: 53,522,623 (GRCm39)	H159Q	probably benign	Het
Sycp2	G	T	2: 178,022,651 (GRCm39)	N493K	probably damaging	Het
Tiam2	A	G	17: 3,559,685 (GRCm39)	D1242G	probably damaging	Het
Triobp	G	T	15: 78,858,204 (GRCm39)	R1268S	probably benign	Het
Wdr12	T	C	1: 60,136,753 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,340,325 (GRCm39)	S855R	probably benign	Het
Zscan20	T	A	4: 128,479,599 (GRCm39)	H964L	probably damaging	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
R1534:Lrrc18	UTSW	14	32,730,478 (GRCm39)	missense	possibly damaging	0.66
R6270:Lrrc18	UTSW	14	32,731,078 (GRCm39)	missense	probably benign
R6882:Lrrc18	UTSW	14	32,730,646 (GRCm39)	missense	probably benign	0.05
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'- GTGAGCAACAACAGGCTGAC -3'
(R):5'- AAAAGAGGGCCTTTCTCGGTG -3'

Sequencing Primer
(F):5'- TGACCACCAACGGGCTTC -3'
(R):5'- GCCTTTCTCGGTGCAGAG -3'

Posted On

2019-11-26