Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Lrrc1'

460722

Institutional Source

Beutler Lab

Gene Symbol

Lrrc1

Ensembl Gene

ENSMUSG00000032352

Gene Name

leucine rich repeat containing 1

Synonyms

A430093J20Rik

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

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

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77430823-77544870 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 77434097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 393 (L393R)

Ref Sequence

ENSEMBL: ENSMUSP00000109048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113421] [ENSMUST00000183873]

AlphaFold

Q80VQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000113421
AA Change: L393R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109048
Gene: ENSMUSG00000032352
AA Change: L393R

Domain	Start	End	E-Value	Type
LRR	13	35	6.57e-1	SMART
LRR	36	59	1.12e2	SMART
LRR	82	104	2.15e2	SMART
LRR	105	127	3.09e1	SMART
LRR	128	150	2.14e0	SMART
LRR	151	173	3.02e0	SMART
LRR	174	196	3.47e0	SMART
LRR	197	219	6.58e0	SMART
LRR_TYP	220	243	4.72e-2	SMART
LRR	266	289	8.97e0	SMART
LRR	313	335	1.49e2	SMART
coiled coil region	440	461	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000183467

Predicted Effect

probably benign
Transcript: ENSMUST00000183873
AA Change: L438R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139226
Gene: ENSMUSG00000032352
AA Change: L438R

Domain	Start	End	E-Value	Type
LRR	36	57	3.18e1	SMART
LRR	58	80	6.57e-1	SMART
LRR	81	104	1.12e2	SMART
LRR	127	149	2.15e2	SMART
LRR	150	172	3.09e1	SMART
LRR	173	195	2.14e0	SMART
LRR	196	218	3.02e0	SMART
LRR	219	241	3.47e0	SMART
LRR	242	264	6.58e0	SMART
LRR_TYP	265	288	4.72e-2	SMART
LRR	311	334	8.97e0	SMART
LRR	358	380	1.49e2	SMART
coiled coil region	485	506	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184531

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	T	17: 33,066,150	D559E	probably benign	Het
4931429L15Rik	A	T	9: 46,306,822	I206N	probably damaging	Het
Aadac	T	A	3: 60,039,827	D315E	probably damaging	Het
Abcc8	A	G	7: 46,123,906	F800L	probably benign	Het
Adamts16	C	A	13: 70,728,910	C1204F	probably damaging	Het
Adcy7	A	G	8: 88,312,228	T291A	possibly damaging	Het
AI182371	G	T	2: 35,086,122	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,801,784		probably benign	Het
Ak5	T	C	3: 152,615,952	D266G	probably damaging	Het
Ank1	A	T	8: 23,140,204	E93D	probably damaging	Het
Bop1	T	C	15: 76,455,917	D153G	probably damaging	Het
Bub1	G	T	2: 127,819,222	N316K	probably benign	Het
Capn1	T	C	19: 5,997,797	N412S	probably benign	Het
Cdca4	A	G	12: 112,821,719	S130P	probably benign	Het
Cdh23	A	T	10: 60,428,379	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,749,642		probably benign	Het
Csmd2	C	T	4: 128,197,385	P239L	probably damaging	Het
Dlg2	A	T	7: 91,997,371		probably benign	Het
Dnpep	C	T	1: 75,311,991		probably null	Het
Dopey2	A	T	16: 93,801,581	H1878L	probably damaging	Het
Dscam	C	T	16: 96,820,920	D444N	probably damaging	Het
Emc9	C	T	14: 55,582,112		probably null	Het
Ero1lb	T	A	13: 12,600,318	I346N	probably damaging	Het
Etv3	A	G	3: 87,535,543	T145A	probably benign	Het
Fam170a	T	A	18: 50,282,254		probably null	Het
Fap	A	T	2: 62,544,356	I261N	probably damaging	Het
Fbn2	T	C	18: 58,045,337	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,826,383	V466E	probably damaging	Het
Gm10521	A	T	1: 171,896,503	H127L	unknown	Het
Gm8186	G	T	17: 26,099,156	N22K	probably damaging	Het
Gpr132	A	C	12: 112,852,097	L370V	probably benign	Het
Hectd1	A	T	12: 51,798,754	H449Q	probably damaging	Het
Hook3	A	G	8: 26,044,278		probably benign	Het
Ift140	A	G	17: 25,092,371	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,849,578		probably null	Het
Itga4	C	T	2: 79,322,656	H896Y	probably benign	Het
Itga7	T	C	10: 128,942,981	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,117,893	E2397V	probably damaging	Het
Jtb	T	G	3: 90,235,577		probably null	Het
Klk15	A	G	7: 43,938,759	T164A	probably benign	Het
Kmt2e	C	A	5: 23,464,706	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,927,293		probably benign	Het
Laptm4b	A	G	15: 34,258,684	I35V	possibly damaging	Het
Ltn1	A	G	16: 87,381,503	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,612,050	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,228,791		probably benign	Het
Nup133	A	G	8: 123,916,299	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,805,983	V970D	probably damaging	Het
Olfr1058	A	T	2: 86,385,874	S181R	probably damaging	Het
Olfr1261	A	G	2: 89,993,957	H188R	probably benign	Het
Olfr429	T	C	1: 174,089,219	Y60H	probably benign	Het
Osbp	C	T	19: 11,973,876	L262F	probably damaging	Het
Phldb2	G	T	16: 45,825,188	D343E	probably damaging	Het
Phrf1	T	A	7: 141,260,540	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,930,651		probably null	Het
Plekhf1	A	T	7: 38,222,170		probably null	Het
Rars	T	C	11: 35,828,648	N116D	probably damaging	Het
Rnf44	T	A	13: 54,682,808	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,615,682		probably null	Het
Scaf1	A	G	7: 45,013,592		probably benign	Het
Serpinb11	A	T	1: 107,372,189	R88S	probably benign	Het
Slc7a7	T	C	14: 54,379,103	N174S	probably damaging	Het
Slc9a5	T	C	8: 105,357,175		probably null	Het
Slfn1	C	A	11: 83,121,176	N39K	possibly damaging	Het
Snx20	G	A	8: 88,627,295	A269V	possibly damaging	Het
Snx6	A	G	12: 54,754,319	Y298H	probably damaging	Het
Stk32c	C	T	7: 139,120,674	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,830,632	F50I	probably damaging	Het
Ubl5	G	A	9: 20,646,534		probably benign	Het
Ubqln5	T	G	7: 104,128,574	T348P	possibly damaging	Het
Usp46	T	C	5: 74,037,085	D22G	probably benign	Het
Vars	A	G	17: 35,012,376	N655S	probably damaging	Het
Vmn2r103	A	C	17: 19,812,453	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,039,871	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,391,066	P547Q	probably damaging	Het
Yy1	T	A	12: 108,806,428		probably benign	Het
Zbtb2	A	T	10: 4,368,592	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,239,988	F17S	probably damaging	Het
Zfp219	T	A	14: 52,007,149		probably null	Het
Zfp629	G	A	7: 127,610,370	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,541,173	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,629,072	Y366N	probably benign	Het
Zp3	C	T	5: 135,988,523	T396I	probably benign	Het

Other mutations in Lrrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02556:Lrrc1	APN	9	77435122	missense	probably benign	0.00
IGL02975:Lrrc1	APN	9	77452647	missense	probably damaging	1.00
IGL03063:Lrrc1	APN	9	77499269	missense	probably damaging	0.99
G1Funyon:Lrrc1	UTSW	9	77544488	missense	probably damaging	1.00
R0610:Lrrc1	UTSW	9	77472206	missense	possibly damaging	0.95
R1462:Lrrc1	UTSW	9	77442265	missense	probably benign	0.01
R1462:Lrrc1	UTSW	9	77442265	missense	probably benign	0.01
R1615:Lrrc1	UTSW	9	77435118	missense	possibly damaging	0.94
R2932:Lrrc1	UTSW	9	77457439	missense	probably benign	0.01
R5087:Lrrc1	UTSW	9	77457458	missense	probably benign
R6443:Lrrc1	UTSW	9	77434032	missense	probably damaging	1.00
R6502:Lrrc1	UTSW	9	77442191	missense	probably damaging	1.00
R7073:Lrrc1	UTSW	9	77468565	missense	probably benign	0.04
R7162:Lrrc1	UTSW	9	77432190	missense	probably benign	0.13
R7177:Lrrc1	UTSW	9	77472222	nonsense	probably null
R7290:Lrrc1	UTSW	9	77457839	missense	probably benign	0.01
R7885:Lrrc1	UTSW	9	77442189	missense	probably damaging	0.97
R8301:Lrrc1	UTSW	9	77544488	missense	probably damaging	1.00
R8375:Lrrc1	UTSW	9	77457847	missense	probably damaging	1.00
R8945:Lrrc1	UTSW	9	77435091	missense	probably damaging	1.00
R9188:Lrrc1	UTSW	9	77455205	missense	probably benign	0.42
R9225:Lrrc1	UTSW	9	77452673	missense	probably benign	0.00
R9336:Lrrc1	UTSW	9	77442198	missense	probably damaging	1.00
R9574:Lrrc1	UTSW	9	77451426	missense	probably damaging	0.97
RF020:Lrrc1	UTSW	9	77452631	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATCCTGGCTGCTAAAAGGC -3'
(R):5'- TTTCACGGAAAGCCAAGGC -3'

Sequencing Primer
(F):5'- GGCTGCTAAAAGGCAAAACAG -3'
(R):5'- GCCAAGGCTGGAGGTTG -3'

Posted On

2017-02-28