Mutagenetix > Incidental Mutation

Incidental Mutation 'R7676:Lrrc45'

592466

Institutional Source

Beutler Lab

Gene Symbol

Lrrc45

Ensembl Gene

ENSMUSG00000025145

Gene Name

leucine rich repeat containing 45

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R7676 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120713925-120721128 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120720322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 602 (R602H)

Ref Sequence

ENSEMBL: ENSMUSP00000026139 (fasta)

Gene Model

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

AlphaFold

Q8CIM1

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 damaging
Transcript: ENSMUST00000026139
AA Change: R602H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: R602H

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

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,294,987	D116G	possibly damaging	Het
Adam6a	G	A	12: 113,544,576	G190S	probably benign	Het
Adnp	G	A	2: 168,183,447	R643*	probably null	Het
Akap6	A	G	12: 52,886,850	D375G	possibly damaging	Het
Aldh1l2	G	T	10: 83,508,111	A480E	probably benign	Het
Ccdc175	T	A	12: 72,102,047	Q779L	possibly damaging	Het
D430042O09Rik	A	G	7: 125,850,377	D897G	probably benign	Het
Dnah7b	T	G	1: 46,234,164	L2484*	probably null	Het
Dnajc21	T	C	15: 10,462,344	Y65C	possibly damaging	Het
Dnhd1	C	A	7: 105,684,087	N255K	probably benign	Het
Efhc1	G	T	1: 20,967,369	G257W	probably damaging	Het
Fars2	C	A	13: 36,205,043	L172I	probably benign	Het
Fat4	T	C	3: 38,891,697	Y1580H	probably damaging	Het
Fli1	T	A	9: 32,428,030	N253Y	probably benign	Het
Foxd3	G	T	4: 99,656,914	C97F	probably damaging	Het
Gem	C	A	4: 11,711,170	D120E	possibly damaging	Het
Ighv10-3	A	G	12: 114,523,679	C41R	probably damaging	Het
Kcnab3	A	G	11: 69,326,727	S16G	probably benign	Het
Keg1	T	G	19: 12,716,045	V154G	probably benign	Het
Ltbp1	A	G	17: 75,291,297	D591G	possibly damaging	Het
Mmp10	T	A	9: 7,503,549	V140D	probably damaging	Het
Nat8f2	A	T	6: 85,868,212	M56K	probably benign	Het
Nckipsd	T	C	9: 108,814,954	F525L	probably damaging	Het
Olfr1328	A	G	4: 118,934,150	S233P	probably damaging	Het
Olfr1406	T	A	1: 173,183,553	K294*	probably null	Het
Olfr804	G	T	10: 129,705,286	S136I	possibly damaging	Het
P2ry12	T	A	3: 59,217,757	M166L	possibly damaging	Het
Palm3	T	C	8: 84,029,445	S529P	possibly damaging	Het
Pdilt	A	T	7: 119,494,997	Y344N	probably damaging	Het
Pip4k2b	A	T	11: 97,720,362	N309K	probably benign	Het
Pkd1l1	C	T	11: 8,962,708	V166I		Het
Plxdc2	C	T	2: 16,712,083	S377L	probably benign	Het
Rc3h2	A	T	2: 37,405,332	V224E	possibly damaging	Het
Stk32c	T	A	7: 139,105,304	D428V	possibly damaging	Het
Ttn	T	C	2: 76,814,607	D12968G	probably damaging	Het
Tulp2	G	T	7: 45,521,027	V457F	possibly damaging	Het
Vcan	A	T	13: 89,691,789	S1879T	probably damaging	Het
Vmn1r51	T	C	6: 90,129,455	Y118H	probably benign	Het
Zfat	A	C	15: 68,224,844	V40G	possibly 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
R1426:Lrrc45	UTSW	11	120720013	missense	probably benign	0.00
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
R7925:Lrrc45	UTSW	11	120715880	missense	probably benign
R9067:Lrrc45	UTSW	11	120715823	missense	possibly damaging	0.92
R9069:Lrrc45	UTSW	11	120717121	missense	probably benign
R9366:Lrrc45	UTSW	11	120720726	missense	probably damaging	1.00
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'- TTGCATCCAGGCCATGATC -3'
(R):5'- TCCCGATCACTGCAAGAGAG -3'

Sequencing Primer
(F):5'- TCCAGGCCATGATCTCACC -3'
(R):5'- ACCCTGTCTCAAAAAGGG -3'

Posted On

2019-11-12