Mutagenetix > Incidental Mutations

Incidental Mutation 'R1426:Lrrc45'

162253

Institutional Source

Beutler Lab

Gene Symbol

Lrrc45

Ensembl Gene

ENSMUSG00000025145

Gene Name

leucine rich repeat containing 45

Synonyms

MMRRC Submission

039482-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R1426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120713925-120721128 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120720013 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 525 (Q525L)

Ref Sequence

ENSEMBL: ENSMUSP00000026139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026139] [ENSMUST00000142229] [ENSMUST00000145781] [ENSMUST00000151852]

Predicted Effect

probably benign
Transcript: ENSMUST00000018156

SMART Domains

Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012

Domain	Start	End	E-Value	Type
RHO	6	179	8.8e-139	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026139
AA Change: Q525L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: Q525L

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	4e-11	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	645	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134322

Predicted Effect

probably benign
Transcript: ENSMUST00000142229

SMART Domains

Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012

Domain	Start	End	E-Value	Type
RHO	6	172	3.19e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145781

SMART Domains

Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	1e-10	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	399	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150225

Predicted Effect

probably benign
Transcript: ENSMUST00000151852

SMART Domains

Protein: ENSMUSP00000115298
Gene: ENSMUSG00000025145

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
Pfam:LRR_6	85	108	1e-2	PFAM
Blast:LRR	113	142	3e-11	BLAST
Pfam:LRR_6	143	162	7.6e-3	PFAM
Pfam:LRR_1	145	159	6.8e-2	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155187

Meta Mutation Damage Score

0.0721

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.1%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,324,435	V214E	probably damaging	Het
Adh1	A	G	3: 138,286,795	D224G	probably damaging	Het
Arhgap28	C	A	17: 67,857,464	Q554H	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Brat1	G	A	5: 140,718,013	V674I	probably benign	Het
Brd2	ATCTTCTTC	ATCTTC	17: 34,114,007		probably benign	Het
Ccdc162	T	C	10: 41,553,182	D438G	possibly damaging	Het
Cyp4x1	T	A	4: 115,112,791		probably benign	Het
Dip2a	T	C	10: 76,279,820		probably benign	Het
Eif2s1	A	G	12: 78,881,168	D206G	probably benign	Het
Elovl7	T	A	13: 108,282,494	I220N	possibly damaging	Het
Gsto1	A	G	19: 47,857,942	E76G	probably damaging	Het
Hspa14	A	T	2: 3,508,821	W12R	probably damaging	Het
L3mbtl2	T	A	15: 81,676,317	C260S	possibly damaging	Het
Lama3	G	T	18: 12,481,098		probably null	Het
Lrrc34	T	A	3: 30,643,579		probably benign	Het
Lss	T	C	10: 76,536,303	I164T	probably damaging	Het
Myh11	T	A	16: 14,205,931	K1527*	probably null	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Ncoa1	T	A	12: 4,270,737		probably benign	Het
Olfr262	G	T	19: 12,241,182	Q160K	possibly damaging	Het
Olfr768	A	T	10: 129,093,690	C95S	probably damaging	Het
Pafah1b3	T	C	7: 25,297,135	E41G	possibly damaging	Het
Pnmal1	C	T	7: 16,960,984	P255S	possibly damaging	Het
Prkar2b	A	T	12: 31,962,988		probably benign	Het
Rbck1	A	T	2: 152,327,241		probably benign	Het
Rcor2	A	G	19: 7,271,030	S137G	possibly damaging	Het
Slc25a48	T	A	13: 56,448,991		probably benign	Het
Slc7a4	A	G	16: 17,573,944		probably null	Het
Tert	T	C	13: 73,642,353		probably benign	Het
Traf7	A	T	17: 24,511,681	I344N	probably damaging	Het
Vmn1r194	T	A	13: 22,245,066	F284L	probably damaging	Het
Xpc	A	G	6: 91,493,238	M699T	probably damaging	Het
Zbtb5	T	C	4: 44,993,968	H472R	possibly damaging	Het
Zfp786	A	G	6: 47,825,079	V88A	probably benign	Het
Zkscan7	T	C	9: 122,895,163	I399T	probably benign	Het
Zyg11b	G	A	4: 108,250,812	R466C	probably damaging	Het

Other mutations in Lrrc45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Lrrc45	APN	11	120720610	splice site	probably benign
IGL01120:Lrrc45	APN	11	120720010	missense	probably benign
IGL01536:Lrrc45	APN	11	120715584	missense	probably benign	0.01
IGL01839:Lrrc45	APN	11	120717149	splice site	probably null
IGL02190:Lrrc45	APN	11	120718508	missense	probably damaging	0.99
IGL02302:Lrrc45	APN	11	120718525	missense	possibly damaging	0.68
IGL02724:Lrrc45	APN	11	120718318	missense	probably benign	0.25
BB002:Lrrc45	UTSW	11	120715880	missense	probably benign
BB012:Lrrc45	UTSW	11	120715880	missense	probably benign
R0396:Lrrc45	UTSW	11	120714907	splice site	probably benign
R0420:Lrrc45	UTSW	11	120715219	missense	probably damaging	1.00
R0540:Lrrc45	UTSW	11	120715162	nonsense	probably null
R0833:Lrrc45	UTSW	11	120718193	splice site	probably null
R0942:Lrrc45	UTSW	11	120718238	unclassified	probably benign
R1252:Lrrc45	UTSW	11	120715471	missense	probably benign	0.13
R1543:Lrrc45	UTSW	11	120720018	missense	probably benign	0.06
R1570:Lrrc45	UTSW	11	120720109	critical splice donor site	probably null
R2392:Lrrc45	UTSW	11	120719539	missense	probably benign	0.00
R3000:Lrrc45	UTSW	11	120718447	missense	probably benign	0.00
R3930:Lrrc45	UTSW	11	120718677	missense	probably benign	0.06
R4158:Lrrc45	UTSW	11	120718446	missense	possibly damaging	0.52
R4161:Lrrc45	UTSW	11	120718446	missense	possibly damaging	0.52
R4432:Lrrc45	UTSW	11	120715221	critical splice donor site	probably null
R4647:Lrrc45	UTSW	11	120719121	missense	probably benign	0.02
R6030:Lrrc45	UTSW	11	120720648	nonsense	probably null
R6030:Lrrc45	UTSW	11	120720648	nonsense	probably null
R6220:Lrrc45	UTSW	11	120719527	missense	probably benign	0.37
R7676:Lrrc45	UTSW	11	120720322	missense	probably damaging	1.00
R7925:Lrrc45	UTSW	11	120715880	missense	probably benign
X0026:Lrrc45	UTSW	11	120720232	missense	probably damaging	1.00
Z1088:Lrrc45	UTSW	11	120720231	missense	probably damaging	1.00
Z1177:Lrrc45	UTSW	11	120718653	missense	probably benign	0.43
Z1177:Lrrc45	UTSW	11	120718665	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGACGCTTCTGGATGCAGGATGAG -3'
(R):5'- TGAGATCATGGCCTGGATGCAAAC -3'

Sequencing Primer
(F):5'- TATGGCACCATGCAGCCC -3'
(R):5'- CTGGATGCAAACTCCTGGTG -3'

Posted On

2014-03-14