Mutagenetix > Incidental Mutation

Incidental Mutation 'R2030:Lrrc52'

221086

Institutional Source

Beutler Lab

Gene Symbol

Lrrc52

Ensembl Gene

ENSMUSG00000040485

Gene Name

leucine rich repeat containing 52

Synonyms

4930413P14Rik

MMRRC Submission

040037-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R2030 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

167273244-167294349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167294028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 86 (N86D)

Ref Sequence

ENSEMBL: ENSMUSP00000047213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036643]

AlphaFold

Q5M8M9

Predicted Effect

probably benign
Transcript: ENSMUST00000036643
AA Change: N86D

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000047213
Gene: ENSMUSG00000040485
AA Change: N86D

Domain	Start	End	E-Value	Type
LRRNT	25	57	4.21e-3	SMART
LRR	56	73	2.03e2	SMART
LRR	76	99	3.09e1	SMART
LRR	100	123	1.37e1	SMART
LRR	124	148	5.89e1	SMART
LRR	149	172	1.06e2	SMART
Blast:LRRCT	184	237	3e-26	BLAST
transmembrane domain	246	268	N/A	INTRINSIC

Meta Mutation Damage Score

0.0598

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (54/54)

MGI Phenotype

PHENOTYPE: Male mice homozygous for a null allele display reduced fertility with impaired fertilization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	C	T	13: 41,981,735 (GRCm39)	V13I	probably damaging	Het
Ak2	A	G	4: 128,902,013 (GRCm39)	K229E	probably benign	Het
Atp13a4	A	T	16: 29,241,502 (GRCm39)	V741D	probably damaging	Het
Bdp1	A	T	13: 100,197,697 (GRCm39)	M896K	probably benign	Het
Ccser1	C	T	6: 61,288,547 (GRCm39)	R237C	probably benign	Het
Cdk7	A	G	13: 100,859,182 (GRCm39)		probably benign	Het
CK137956	A	G	4: 127,845,180 (GRCm39)	S188P	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dbndd2	A	G	2: 164,330,563 (GRCm39)	D72G	probably damaging	Het
Disp3	A	T	4: 148,344,423 (GRCm39)	I493N	probably damaging	Het
Dnaaf10	A	T	11: 17,179,832 (GRCm39)	T278S	probably benign	Het
Epx	T	C	11: 87,755,650 (GRCm39)	D678G	probably damaging	Het
Fbxw5	G	T	2: 25,394,810 (GRCm39)	V235L	probably damaging	Het
Fmo4	T	A	1: 162,621,741 (GRCm39)	D490V	probably damaging	Het
Fuca2	A	G	10: 13,382,518 (GRCm39)	Y268C	probably damaging	Het
Gm4787	C	T	12: 81,425,544 (GRCm39)	V205I	probably damaging	Het
Gpat3	G	A	5: 101,045,687 (GRCm39)	R437K	probably benign	Het
Herc2	A	G	7: 55,834,121 (GRCm39)	S3109G	probably damaging	Het
Hr	G	A	14: 70,808,888 (GRCm39)	R1117H	probably damaging	Het
Htra4	T	A	8: 25,523,593 (GRCm39)	D324V	probably damaging	Het
Kcnd3	A	G	3: 105,366,853 (GRCm39)	Y241C	probably damaging	Het
Kcp	G	A	6: 29,489,071 (GRCm39)	L1072F	probably damaging	Het
Mindy4	A	G	6: 55,188,247 (GRCm39)	T26A	probably damaging	Het
Mre11a	A	T	9: 14,707,101 (GRCm39)	N117Y	probably damaging	Het
Mrgprb1	A	T	7: 48,097,076 (GRCm39)	S279T	possibly damaging	Het
Myh13	T	G	11: 67,241,064 (GRCm39)	S814A	probably benign	Het
Ncapd2	A	G	6: 125,153,678 (GRCm39)	V679A	possibly damaging	Het
Nipbl	A	T	15: 8,379,771 (GRCm39)	V1007D	probably damaging	Het
Nlrp12	T	A	7: 3,277,049 (GRCm39)	H960L	probably damaging	Het
Or3a1c	T	A	11: 74,046,769 (GRCm39)	M263K	possibly damaging	Het
Or4a72	C	T	2: 89,405,558 (GRCm39)	V171I	probably benign	Het
Or7e169	A	G	9: 19,757,709 (GRCm39)	S69P	probably benign	Het
Pklr	A	G	3: 89,050,545 (GRCm39)	Y402C	probably damaging	Het
Prdm2	T	C	4: 142,859,334 (GRCm39)	T1319A	possibly damaging	Het
Rif1	T	A	2: 51,982,358 (GRCm39)	V541E	probably damaging	Het
Ryk	T	A	9: 102,758,855 (GRCm39)	I248N	possibly damaging	Het
Shisa2	A	T	14: 59,867,134 (GRCm39)	I129F	probably damaging	Het
Snap25	T	G	2: 136,611,973 (GRCm39)		probably benign	Het
Snx31	G	A	15: 36,525,848 (GRCm39)	P284S	probably benign	Het
Spata31g1	C	T	4: 42,974,131 (GRCm39)	Q1155*	probably null	Het
Tas2r140	A	G	6: 40,469,154 (GRCm39)	K328R	possibly damaging	Het
Tas2r140	T	C	6: 133,032,213 (GRCm39)	T182A	probably benign	Het
Thumpd2	G	A	17: 81,372,387 (GRCm39)	R35C	probably damaging	Het
Tnxb	A	T	17: 34,937,443 (GRCm39)	N3811Y	probably damaging	Het
Tpte	A	C	8: 22,835,901 (GRCm39)	N428T	probably damaging	Het
Trpm6	A	G	19: 18,831,629 (GRCm39)	D1498G	probably benign	Het
Tsc2	C	T	17: 24,842,444 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,703,277 (GRCm39)		probably benign	Het
Wdr24	A	G	17: 26,045,017 (GRCm39)	I251V	probably benign	Het
Zc3h6	T	C	2: 128,848,006 (GRCm39)	Y278H	probably damaging	Het
Zfat	A	G	15: 67,990,783 (GRCm39)		probably null	Het
Zfp442	A	T	2: 150,250,042 (GRCm39)	V620E	possibly damaging	Het
Zfp788	A	G	7: 41,298,984 (GRCm39)	H540R	probably damaging	Het

Other mutations in Lrrc52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02126:Lrrc52	APN	1	167,273,575 (GRCm39)	missense	probably damaging	1.00
IGL02232:Lrrc52	APN	1	167,293,949 (GRCm39)	missense	probably damaging	0.99
R2252:Lrrc52	UTSW	1	167,293,937 (GRCm39)	missense	probably damaging	1.00
R4695:Lrrc52	UTSW	1	167,293,660 (GRCm39)	critical splice donor site	probably null
R6155:Lrrc52	UTSW	1	167,294,296 (GRCm39)	start gained	probably benign
R6248:Lrrc52	UTSW	1	167,293,964 (GRCm39)	missense	probably damaging	1.00
R6661:Lrrc52	UTSW	1	167,293,922 (GRCm39)	missense	probably damaging	1.00
R7135:Lrrc52	UTSW	1	167,294,019 (GRCm39)	missense	probably damaging	1.00
R7622:Lrrc52	UTSW	1	167,293,665 (GRCm39)	missense	probably benign	0.08
R7622:Lrrc52	UTSW	1	167,293,664 (GRCm39)	missense	probably benign	0.16
R8063:Lrrc52	UTSW	1	167,294,090 (GRCm39)	missense	probably damaging	0.98
R8744:Lrrc52	UTSW	1	167,294,150 (GRCm39)	missense	probably benign	0.19
Z1088:Lrrc52	UTSW	1	167,294,063 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- GGTACCTCAAAGACGTGGTG -3'
(R):5'- ATCAGGGTCCAAGTGTCCAAAC -3'

Sequencing Primer
(F):5'- CCTCAAAGACGTGGTGTTGGC -3'
(R):5'- TCCAAGTGTCCAAACAAGTGTGTG -3'

Posted On

2014-08-25