Mutagenetix > Incidental Mutation

Incidental Mutation 'R7073:Lrrc1'

549042

Institutional Source

Beutler Lab

Gene Symbol

Lrrc1

Ensembl Gene

ENSMUSG00000032352

Gene Name

leucine rich repeat containing 1

Synonyms

A430093J20Rik

MMRRC Submission

045169-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R7073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77338105-77452152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77375847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 147 (I147F)

Ref Sequence

ENSEMBL: ENSMUSP00000139226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113421] [ENSMUST00000183734] [ENSMUST00000183873]

AlphaFold

Q80VQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000113421
AA Change: I102F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109048
Gene: ENSMUSG00000032352
AA Change: I102F

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

probably benign
Transcript: ENSMUST00000183734
AA Change: I147F

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138912
Gene: ENSMUSG00000032352
AA Change: I147F

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	289	311	8.03e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183873
AA Change: I147F

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139226
Gene: ENSMUSG00000032352
AA Change: I147F

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

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	G	13: 81,709,593 (GRCm39)	E1133D	probably damaging	Het
Ankrd13b	A	T	11: 77,363,335 (GRCm39)	D505E	probably benign	Het
Ano1	C	T	7: 144,192,289 (GRCm39)	E361K	probably damaging	Het
Arap3	T	A	18: 38,107,495 (GRCm39)	K1341*	probably null	Het
Arhgef17	A	C	7: 100,579,198 (GRCm39)	Y583*	probably null	Het
Ash1l	G	A	3: 88,892,647 (GRCm39)	E1509K	probably damaging	Het
B430305J03Rik	T	G	3: 61,271,681 (GRCm39)	R21S	unknown	Het
Bbof1	A	G	12: 84,473,609 (GRCm39)	E313G	probably damaging	Het
Catsperb	C	T	12: 101,475,497 (GRCm39)	T347I	probably benign	Het
Ccdc24	G	T	4: 117,729,201 (GRCm39)	A92D	probably damaging	Het
Ccdc63	T	C	5: 122,249,073 (GRCm39)	T419A	probably benign	Het
Ccdc7a	C	T	8: 129,618,866 (GRCm39)	V893I	possibly damaging	Het
Ccdc88b	G	T	19: 6,831,330 (GRCm39)	D537E	probably benign	Het
Cd276	T	C	9: 58,444,615 (GRCm39)	S119G	probably damaging	Het
Cdkn3	T	C	14: 47,004,647 (GRCm39)	Y70H	possibly damaging	Het
Cdo1	G	A	18: 46,861,266 (GRCm39)		probably benign	Het
Cdr2	A	T	7: 120,581,247 (GRCm39)	F10Y	probably damaging	Het
Cep290	A	T	10: 100,374,865 (GRCm39)	K1370N	possibly damaging	Het
Crb1	T	A	1: 139,176,049 (GRCm39)	I645F	probably damaging	Het
Cul7	T	C	17: 46,969,657 (GRCm39)	W975R	probably damaging	Het
Ddx39b	A	C	17: 35,471,826 (GRCm39)	E324A	probably benign	Het
Diaph1	T	G	18: 38,022,867 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,321,318 (GRCm39)	R3917*	probably null	Het
Dnph1	T	A	17: 46,807,815 (GRCm39)	L27Q	probably damaging	Het
Duox2	A	G	2: 122,119,788 (GRCm39)	F880S	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Enpep	A	T	3: 129,106,319 (GRCm39)	Y302*	probably null	Het
Ergic2	G	T	6: 148,096,707 (GRCm39)	H186Q	probably damaging	Het
Fam83b	T	C	9: 76,453,031 (GRCm39)	D12G	probably benign	Het
Fbxw16	A	T	9: 109,270,123 (GRCm39)	V206D	probably damaging	Het
Fhod1	A	T	8: 106,063,771 (GRCm39)	V278D	unknown	Het
Gba2	G	C	4: 43,573,753 (GRCm39)	Q180E	probably damaging	Het
Grhl3	G	A	4: 135,300,723 (GRCm39)	L5F	probably benign	Het
H2-T15	A	T	17: 36,369,235 (GRCm39)	C7S	unknown	Het
Ifit1bl1	C	T	19: 34,576,667 (GRCm39)		probably null	Het
Ift57	A	G	16: 49,584,230 (GRCm39)	T413A	probably benign	Het
Itga2	A	G	13: 114,996,149 (GRCm39)	F714S	probably damaging	Het
Jmy	A	G	13: 93,577,841 (GRCm39)	S776P	probably benign	Het
Kbtbd8	G	A	6: 95,098,814 (GRCm39)	A108T	probably damaging	Het
Kpna6	G	A	4: 129,548,139 (GRCm39)	A230V	probably damaging	Het
Lrfn1	C	T	7: 28,159,397 (GRCm39)	L439F	possibly damaging	Het
Lrrc7	C	T	3: 157,832,884 (GRCm39)	G1425R	probably damaging	Het
Madd	T	A	2: 90,992,854 (GRCm39)	I1022F	probably damaging	Het
Map2k2	A	T	10: 80,942,017 (GRCm39)	T13S	probably benign	Het
Mdc1	G	A	17: 36,164,960 (GRCm39)	V1459I	probably benign	Het
Mdh1b	G	A	1: 63,760,719 (GRCm39)	T114M	probably damaging	Het
Mfsd2a	T	C	4: 122,845,088 (GRCm39)	I208V	possibly damaging	Het
Mmrn1	T	A	6: 60,965,411 (GRCm39)	D1147E	probably damaging	Het
Nbeal2	T	A	9: 110,455,177 (GRCm39)	I2574F	probably damaging	Het
Nr1d1	T	G	11: 98,662,892 (GRCm39)	S34R	probably damaging	Het
Nr3c1	A	T	18: 39,619,449 (GRCm39)	D279E	probably benign	Het
Nrde2	T	C	12: 100,098,747 (GRCm39)	D640G	probably benign	Het
Odf4	A	G	11: 68,817,514 (GRCm39)	L58P	probably damaging	Het
Or4k41	A	T	2: 111,279,631 (GRCm39)	I49F	probably benign	Het
Or4p22	A	T	2: 88,317,651 (GRCm39)	I192F	probably benign	Het
Otud6b	A	C	4: 14,811,743 (GRCm39)	M300R	probably damaging	Het
Pamr1	T	A	2: 102,471,280 (GRCm39)	D534E	probably benign	Het
Pcdh7	T	A	5: 57,878,299 (GRCm39)	V618E	probably benign	Het
Pcgf6	A	C	19: 47,031,226 (GRCm39)	N266K	possibly damaging	Het
Plcz1	A	T	6: 139,968,849 (GRCm39)	Y196*	probably null	Het
Plxna1	A	T	6: 89,334,311 (GRCm39)	L106Q	probably damaging	Het
Qrich2	G	A	11: 116,337,701 (GRCm39)	A184V	probably damaging	Het
Rimkla	A	G	4: 119,325,275 (GRCm39)	L378S	probably benign	Het
Rufy1	G	T	11: 50,295,290 (GRCm39)	H472Q	probably benign	Het
Samd7	T	A	3: 30,810,631 (GRCm39)	M216K	probably benign	Het
Samd9l	A	T	6: 3,375,856 (GRCm39)	Y468*	probably null	Het
Scn2a	T	G	2: 65,558,787 (GRCm39)	L1194R	probably benign	Het
Sgo2a	T	A	1: 58,056,944 (GRCm39)	S1043T	possibly damaging	Het
Slc6a17	G	T	3: 107,378,755 (GRCm39)	H642Q	probably benign	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
St6galnac3	T	A	3: 153,117,274 (GRCm39)	T150S	possibly damaging	Het
Strip2	T	A	6: 29,941,911 (GRCm39)	I627N	possibly damaging	Het
Sv2c	A	T	13: 96,224,758 (GRCm39)	C184S	probably damaging	Het
Tm7sf2	A	T	19: 6,116,527 (GRCm39)		probably null	Het
Ttc28	T	C	5: 111,371,282 (GRCm39)	I608T	possibly damaging	Het
Vmn1r183	T	G	7: 23,754,926 (GRCm39)	L243R	probably damaging	Het
Vmn1r68	T	C	7: 10,261,778 (GRCm39)	T107A	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Zfp516	T	A	18: 83,006,325 (GRCm39)		probably null	Het
Zpbp2	A	G	11: 98,443,335 (GRCm39)	D56G	probably damaging	Het

Other mutations in Lrrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02556:Lrrc1	APN	9	77,342,404 (GRCm39)	missense	probably benign	0.00
IGL02975:Lrrc1	APN	9	77,359,929 (GRCm39)	missense	probably damaging	1.00
IGL03063:Lrrc1	APN	9	77,406,551 (GRCm39)	missense	probably damaging	0.99
G1Funyon:Lrrc1	UTSW	9	77,451,770 (GRCm39)	missense	probably damaging	1.00
R0610:Lrrc1	UTSW	9	77,379,488 (GRCm39)	missense	possibly damaging	0.95
R1462:Lrrc1	UTSW	9	77,349,547 (GRCm39)	missense	probably benign	0.01
R1462:Lrrc1	UTSW	9	77,349,547 (GRCm39)	missense	probably benign	0.01
R1615:Lrrc1	UTSW	9	77,342,400 (GRCm39)	missense	possibly damaging	0.94
R2932:Lrrc1	UTSW	9	77,364,721 (GRCm39)	missense	probably benign	0.01
R5087:Lrrc1	UTSW	9	77,364,740 (GRCm39)	missense	probably benign
R5907:Lrrc1	UTSW	9	77,341,379 (GRCm39)	missense	probably damaging	0.99
R6443:Lrrc1	UTSW	9	77,341,314 (GRCm39)	missense	probably damaging	1.00
R6502:Lrrc1	UTSW	9	77,349,473 (GRCm39)	missense	probably damaging	1.00
R7162:Lrrc1	UTSW	9	77,339,472 (GRCm39)	missense	probably benign	0.13
R7177:Lrrc1	UTSW	9	77,379,504 (GRCm39)	nonsense	probably null
R7290:Lrrc1	UTSW	9	77,365,121 (GRCm39)	missense	probably benign	0.01
R7885:Lrrc1	UTSW	9	77,349,471 (GRCm39)	missense	probably damaging	0.97
R8301:Lrrc1	UTSW	9	77,451,770 (GRCm39)	missense	probably damaging	1.00
R8375:Lrrc1	UTSW	9	77,365,129 (GRCm39)	missense	probably damaging	1.00
R8945:Lrrc1	UTSW	9	77,342,373 (GRCm39)	missense	probably damaging	1.00
R9188:Lrrc1	UTSW	9	77,362,487 (GRCm39)	missense	probably benign	0.42
R9225:Lrrc1	UTSW	9	77,359,955 (GRCm39)	missense	probably benign	0.00
R9336:Lrrc1	UTSW	9	77,349,480 (GRCm39)	missense	probably damaging	1.00
R9574:Lrrc1	UTSW	9	77,358,708 (GRCm39)	missense	probably damaging	0.97
RF020:Lrrc1	UTSW	9	77,359,913 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATCCCGTCTCACAGGAAC -3'
(R):5'- TGGCCTGTCCAGAAAAGGTG -3'

Sequencing Primer
(F):5'- GATCCCGTCTCACAGGAACAAGAG -3'
(R):5'- AACTGACGGCGGCTGTTAC -3'

Posted On

2019-05-15