Mutagenetix > Incidental Mutation

Incidental Mutation 'R8132:Lrrc55'

632054

Institutional Source

Beutler Lab

Gene Symbol

Lrrc55

Ensembl Gene

ENSMUSG00000075224

Gene Name

leucine rich repeat containing 55

Synonyms

LOC241528, A330097E02Rik

MMRRC Submission

067895-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85018411-85029110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85022259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 311 (I311V)

Ref Sequence

ENSEMBL: ENSMUSP00000097514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099930] [ENSMUST00000111601]

AlphaFold

Q3UY51

Predicted Effect

probably benign
Transcript: ENSMUST00000099930
AA Change: I311V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000097514
Gene: ENSMUSG00000075224
AA Change: I311V

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
LRRNT	50	82	2.57e-7	SMART
LRR	103	124	3.29e-1	SMART
LRR	126	148	4.7e0	SMART
LRR	150	173	2.47e2	SMART
LRR	174	197	2.4e1	SMART
LRRCT	209	263	6.85e-9	SMART
transmembrane domain	272	294	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111601
AA Change: I311V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107228
Gene: ENSMUSG00000075224
AA Change: I311V

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
LRRNT	50	82	2.57e-7	SMART
LRR	103	124	3.29e-1	SMART
LRR	126	148	4.7e0	SMART
LRR	150	173	2.47e2	SMART
LRR	174	197	2.4e1	SMART
LRRCT	209	263	6.85e-9	SMART
transmembrane domain	272	294	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Abhd16b	G	A	2: 181,135,760 (GRCm39)	A221T	probably damaging	Het
Arhgef1	C	T	7: 24,607,087 (GRCm39)		probably benign	Het
Arhgef1	C	T	7: 24,619,174 (GRCm39)	Q472*	probably null	Het
Calr3	C	T	8: 73,181,023 (GRCm39)	G298S	probably damaging	Het
Chrng	A	G	1: 87,133,718 (GRCm39)	T15A	unknown	Het
CK137956	T	A	4: 127,845,075 (GRCm39)	K223*	probably null	Het
Clca3b	A	T	3: 144,552,935 (GRCm39)	S97T	probably benign	Het
Cops7b	G	T	1: 86,514,916 (GRCm39)	G102V	probably damaging	Het
Dennd1a	T	A	2: 37,748,072 (GRCm39)	S382C	probably damaging	Het
Fdps	G	A	3: 89,006,693 (GRCm39)	Q66*	probably null	Het
Gemin4	T	C	11: 76,103,739 (GRCm39)	T341A	probably benign	Het
Grk3	A	G	5: 113,109,355 (GRCm39)	S201P	unknown	Het
Hgf	C	T	5: 16,807,329 (GRCm39)	T407I	probably damaging	Het
Hip1r	C	T	5: 124,135,290 (GRCm39)	R446C	probably damaging	Het
Hyal6	A	T	6: 24,740,827 (GRCm39)	I327L	possibly damaging	Het
Ifna15	T	C	4: 88,475,920 (GRCm39)	E188G	possibly damaging	Het
Igip	A	G	18: 36,434,266 (GRCm39)	S11G	probably benign	Het
Igkv5-39	A	G	6: 69,877,589 (GRCm39)	Y56H	probably damaging	Het
Jph1	G	A	1: 17,086,379 (GRCm39)	T381I	probably damaging	Het
Mrps35	T	A	6: 146,949,661 (GRCm39)	D58E	probably benign	Het
Ms4a4d	C	A	19: 11,535,310 (GRCm39)	P203T	probably benign	Het
Naip1	T	G	13: 100,573,883 (GRCm39)	E225D	possibly damaging	Het
Ncapg2	T	A	12: 116,407,967 (GRCm39)	I989N	possibly damaging	Het
Nek3	A	T	8: 22,647,036 (GRCm39)	Y166*	probably null	Het
Nphs1	A	G	7: 30,181,478 (GRCm39)	E1169G	probably benign	Het
Nudt15	G	A	14: 73,759,099 (GRCm39)	P123L	probably benign	Het
Or10c1	T	A	17: 37,522,207 (GRCm39)	E179V	probably damaging	Het
Or10q1b	G	A	19: 13,682,584 (GRCm39)	C131Y	probably damaging	Het
Or5ac22	T	C	16: 59,134,907 (GRCm39)	I288V	possibly damaging	Het
Or6k14	T	A	1: 173,927,737 (GRCm39)	S238T	probably damaging	Het
Or8a1b	C	T	9: 37,623,369 (GRCm39)	V69M	probably benign	Het
Pcdha5	T	C	18: 37,093,694 (GRCm39)	S68P	possibly damaging	Het
Plec	G	T	15: 76,074,773 (GRCm39)	A330E	unknown	Het
Rpa3	A	C	6: 8,256,790 (GRCm39)	I63S	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Snap25	A	T	2: 136,611,748 (GRCm39)	K83N	probably benign	Het
Sos1	T	G	17: 80,716,031 (GRCm39)	Q977P	probably damaging	Het
Spag16	A	G	1: 70,420,461 (GRCm39)	Y483C	probably damaging	Het
Speg	A	G	1: 75,399,639 (GRCm39)	E2362G	probably damaging	Het
Swap70	A	G	7: 109,855,084 (GRCm39)	D128G	probably damaging	Het
Syngap1	G	A	17: 27,177,154 (GRCm39)	M545I	probably damaging	Het
Tdpoz6	G	A	3: 93,599,452 (GRCm39)	Q306*	probably null	Het
Tmem147	T	C	7: 30,427,872 (GRCm39)	E110G	probably damaging	Het
Tmem156	T	A	5: 65,233,098 (GRCm39)	I155F	probably benign	Het
Trim25	C	A	11: 88,907,432 (GRCm39)	A597E	probably damaging	Het
Ttc7b	T	C	12: 100,413,131 (GRCm39)	Y229C	probably damaging	Het
Utrn	T	A	10: 12,558,154 (GRCm39)	Q1435L	probably damaging	Het
Zbtb41	T	C	1: 139,350,955 (GRCm39)	S23P	probably benign	Het
Zeb2	T	A	2: 44,879,142 (GRCm39)	I1075F	probably damaging	Het

Other mutations in Lrrc55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Lrrc55	APN	2	85,026,559 (GRCm39)	missense	possibly damaging	0.53
IGL01646:Lrrc55	APN	2	85,022,333 (GRCm39)	missense	probably damaging	0.99
malice	UTSW	2	85,026,615 (GRCm39)	missense	probably damaging	1.00
spite	UTSW	2	85,026,727 (GRCm39)	missense	probably benign	0.34
R0149:Lrrc55	UTSW	2	85,026,589 (GRCm39)	missense	probably damaging	0.98
R0361:Lrrc55	UTSW	2	85,026,589 (GRCm39)	missense	probably damaging	0.98
R0491:Lrrc55	UTSW	2	85,022,264 (GRCm39)	missense	probably damaging	1.00
R4223:Lrrc55	UTSW	2	85,026,460 (GRCm39)	missense	possibly damaging	0.82
R4654:Lrrc55	UTSW	2	85,026,880 (GRCm39)	missense	possibly damaging	0.82
R4746:Lrrc55	UTSW	2	85,026,514 (GRCm39)	missense	probably damaging	1.00
R5756:Lrrc55	UTSW	2	85,026,727 (GRCm39)	missense	probably benign	0.34
R6329:Lrrc55	UTSW	2	85,026,653 (GRCm39)	missense	probably benign	0.28
R6705:Lrrc55	UTSW	2	85,026,699 (GRCm39)	missense	probably benign	0.33
R6985:Lrrc55	UTSW	2	85,022,274 (GRCm39)	missense	probably benign	0.27
R7229:Lrrc55	UTSW	2	85,026,784 (GRCm39)	missense	probably damaging	1.00
R8483:Lrrc55	UTSW	2	85,022,295 (GRCm39)	missense	probably benign	0.22
R8932:Lrrc55	UTSW	2	85,026,615 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTGAGGCACAGATGATGGAC -3'
(R):5'- TCTTTTCACTCACTGAAGAGAGC -3'

Sequencing Primer
(F):5'- CAGGAACCGGATTGAATTTGTC -3'
(R):5'- AAGAGAGCTTCAAGGCCTGCC -3'

Posted On

2020-06-30