Mutagenetix > Incidental Mutation

Incidental Mutation 'R8375:Lrrc1'

646632

Institutional Source

Beutler Lab

Gene Symbol

Lrrc1

Ensembl Gene

ENSMUSG00000032352

Gene Name

leucine rich repeat containing 1

Synonyms

A430093J20Rik

MMRRC Submission

067743-MU

Accession Numbers

Essential gene?

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

Stock #

R8375 (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 77365129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 184 (N184I)

Ref Sequence

ENSEMBL: ENSMUSP00000139226 (fasta)

Gene Model

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

AlphaFold

Q80VQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000113421
AA Change: N139I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109048
Gene: ENSMUSG00000032352
AA Change: N139I

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 damaging
Transcript: ENSMUST00000183734
AA Change: N184I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138912
Gene: ENSMUSG00000032352
AA Change: N184I

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 damaging
Transcript: ENSMUST00000183873
AA Change: N184I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139226
Gene: ENSMUSG00000032352
AA Change: N184I

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,265,416 (GRCm39)	F3030L	probably benign	Het
Abca13	A	T	11: 9,347,841 (GRCm39)	I3565F	probably damaging	Het
Ak7	A	T	12: 105,708,600 (GRCm39)	I352F	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Anapc7	C	T	5: 122,566,342 (GRCm39)	P84S	probably benign	Het
Apol7a	A	T	15: 77,273,547 (GRCm39)	I305N	probably damaging	Het
Asf1b	C	T	8: 84,694,559 (GRCm39)	R108C	probably damaging	Het
Bicd1	A	T	6: 149,421,989 (GRCm39)	E903D	probably benign	Het
Bpifb3	A	T	2: 153,767,715 (GRCm39)	I263F	probably benign	Het
Cavin3	T	A	7: 105,130,228 (GRCm39)	S195C	probably damaging	Het
Chsy3	C	A	18: 59,312,585 (GRCm39)	R353S	probably damaging	Het
Col5a2	A	G	1: 45,481,890 (GRCm39)	V78A	unknown	Het
Cpxm1	C	T	2: 130,236,146 (GRCm39)	E339K	probably damaging	Het
Cyp26c1	G	T	19: 37,675,660 (GRCm39)	A175S	probably benign	Het
Dnah5	A	T	15: 28,327,489 (GRCm39)	T2069S	probably benign	Het
Ednrb	A	G	14: 104,057,383 (GRCm39)	F393S	probably damaging	Het
Fstl4	T	C	11: 53,053,502 (GRCm39)	S385P	possibly damaging	Het
Gabpb2	G	A	3: 95,112,109 (GRCm39)	S40L	probably damaging	Het
Gabrb1	T	C	5: 72,187,172 (GRCm39)	I155T	probably damaging	Het
Hc	T	A	2: 34,873,731 (GRCm39)	N1668Y	probably benign	Het
Kcnh1	A	G	1: 192,117,124 (GRCm39)	H670R	probably damaging	Het
Krt31	G	A	11: 99,938,603 (GRCm39)	A330V	probably benign	Het
Lrfn2	T	A	17: 49,403,851 (GRCm39)	M658K	possibly damaging	Het
Lrrc69	T	C	4: 14,795,994 (GRCm39)	I18V	probably benign	Het
Lvrn	G	A	18: 46,983,289 (GRCm39)	V11M	probably damaging	Het
Map4k4	T	C	1: 40,063,801 (GRCm39)	S1199P	possibly damaging	Het
Mib1	T	C	18: 10,768,233 (GRCm39)		probably null	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Myo18b	C	T	5: 112,908,259 (GRCm39)	V2005I	possibly damaging	Het
Myo6	T	A	9: 80,162,206 (GRCm39)	H314Q	unknown	Het
Nat8f6	A	C	6: 85,785,888 (GRCm39)	M87R	probably benign	Het
Net1	A	G	13: 3,943,458 (GRCm39)		probably benign	Het
Notch4	C	T	17: 34,787,228 (GRCm39)	T294I	possibly damaging	Het
Nrros	A	G	16: 31,966,456 (GRCm39)	L36P	probably damaging	Het
Or8b12i	T	C	9: 20,082,037 (GRCm39)	M277V	probably benign	Het
Or8c9	G	C	9: 38,241,231 (GRCm39)	W113S	probably benign	Het
Padi3	T	C	4: 140,525,407 (GRCm39)	H202R	probably damaging	Het
Pik3ap1	A	T	19: 41,316,538 (GRCm39)	M284K	probably damaging	Het
Prr27	C	A	5: 87,990,710 (GRCm39)	Y107*	probably null	Het
Rab5c	G	T	11: 100,607,609 (GRCm39)	N188K	probably damaging	Het
Rlf	A	T	4: 121,005,532 (GRCm39)	S1259R	probably damaging	Het
Rrm2	T	C	12: 24,762,751 (GRCm39)	V298A	probably damaging	Het
Rtn4rl2	A	T	2: 84,711,033 (GRCm39)	L77H	possibly damaging	Het
Skint4	A	G	4: 111,975,173 (GRCm39)	I44M	probably damaging	Het
Spaca7	T	C	8: 12,648,998 (GRCm39)	I164T	probably benign	Het
Spg7	A	G	8: 123,800,568 (GRCm39)	S153G	probably damaging	Het
Spink5	T	C	18: 44,123,786 (GRCm39)	S358P	probably benign	Het
Stx5a	T	C	19: 8,732,462 (GRCm39)	M377T	unknown	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Ttc41	A	G	10: 86,599,844 (GRCm39)	D1048G	probably damaging	Het
Ttn	A	T	2: 76,557,509 (GRCm39)	W29862R	probably damaging	Het
Vmn1r203	T	G	13: 22,709,154 (GRCm39)	*312G	probably null	Het
Vmn2r74	T	G	7: 85,601,914 (GRCm39)	T575P	possibly damaging	Het
Zfp14	A	T	7: 29,738,579 (GRCm39)	N135K	possibly 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
R7073:Lrrc1	UTSW	9	77,375,847 (GRCm39)	missense	probably benign	0.04
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
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'- AGCTCAGATCTCTGGTCCTG -3'
(R):5'- TTTTGAGCACTGACTGGGAG -3'

Sequencing Primer
(F):5'- AGATCTCTGGTCCTGACTCTC -3'
(R):5'- CACTGACTGGGAGTGTCGTC -3'

Posted On

2020-09-02