Mutagenetix > Incidental Mutation

Incidental Mutation 'R9332:Lrrc69'

706906

Institutional Source

Beutler Lab

Gene Symbol

Lrrc69

Ensembl Gene

ENSMUSG00000023151

Gene Name

leucine rich repeat containing 69

Synonyms

1700034K16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R9332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14623620-14796060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14774987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 94 (R94W)

Ref Sequence

ENSEMBL: ENSMUSP00000023917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023917] [ENSMUST00000108276]

AlphaFold

Q9D9Q0

Predicted Effect

probably damaging
Transcript: ENSMUST00000023917
AA Change: R94W

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

SMART Domains

Protein: ENSMUSP00000023917
Gene: ENSMUSG00000023151
AA Change: R94W

Domain	Start	End	E-Value	Type
LRR	36	58	4.57e0	SMART
LRR	59	81	2.82e0	SMART
LRR	82	105	7.55e-1	SMART
LRR	106	128	7.79e0	SMART
LRR	129	151	1.99e0	SMART
LRR	152	174	5.72e0	SMART
LRR	175	197	3.86e0	SMART
LRR	198	220	8.24e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108276
AA Change: R94W

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

SMART Domains

Protein: ENSMUSP00000103911
Gene: ENSMUSG00000023151
AA Change: R94W

Domain	Start	End	E-Value	Type
LRR	36	58	4.57e0	SMART
LRR	59	81	2.82e0	SMART
LRR	82	105	7.55e-1	SMART
LRR	106	128	7.79e0	SMART
LRR	129	151	1.99e0	SMART
LRR	152	174	5.72e0	SMART
LRR	175	197	3.86e0	SMART
LRR	198	220	8.24e0	SMART

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	T	G	13: 112,459,677 (GRCm39)	D90E	probably damaging	Het
Arid1b	C	A	17: 5,045,584 (GRCm39)	P124Q	unknown	Het
Atxn2	C	T	5: 121,923,425 (GRCm39)	P698L	probably damaging	Het
Bend7	T	C	2: 4,757,531 (GRCm39)	V191A	probably benign	Het
Bltp1	G	A	3: 37,104,989 (GRCm39)	D1485N		Het
C2cd4a	T	G	9: 67,738,779 (GRCm39)	H88P	probably damaging	Het
Cacna1s	C	T	1: 136,020,452 (GRCm39)	Q830*	probably null	Het
Camta1	T	C	4: 151,228,474 (GRCm39)	E786G	possibly damaging	Het
Caprin1	A	G	2: 103,603,390 (GRCm39)	S443P	probably benign	Het
Cass4	T	G	2: 172,269,806 (GRCm39)	F629L	probably benign	Het
Ccdc149	T	A	5: 52,562,399 (GRCm39)	D209V	probably damaging	Het
Ccdc150	T	C	1: 54,316,910 (GRCm39)	V263A	probably damaging	Het
Cfc1	C	T	1: 34,576,453 (GRCm39)	R145C	probably damaging	Het
Cnn1	C	A	9: 22,019,350 (GRCm39)	D239E	probably damaging	Het
Cobll1	C	T	2: 64,933,516 (GRCm39)	S493N	probably benign	Het
Cox20	A	T	1: 178,146,771 (GRCm39)	K13*	probably null	Het
Dclk1	G	A	3: 55,370,500 (GRCm39)	S340N	probably damaging	Het
Dennd2c	T	A	3: 103,038,877 (GRCm39)	D8E	probably benign	Het
Dnajc10	A	T	2: 80,175,327 (GRCm39)	K571N	probably benign	Het
Dock7	T	A	4: 98,896,280 (GRCm39)	I58F		Het
Dpy19l4	A	G	4: 11,304,298 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,483,918 (GRCm39)	D218G	probably benign	Het
Eya4	G	T	10: 22,989,845 (GRCm39)	T504K	probably damaging	Het
Fam222a	T	C	5: 114,749,398 (GRCm39)	I198T	probably damaging	Het
Fbxw10	T	A	11: 62,748,585 (GRCm39)	F404Y	probably benign	Het
Fbxw24	A	T	9: 109,452,681 (GRCm39)	Y105N	probably damaging	Het
Fzd10	T	G	5: 128,678,316 (GRCm39)	L12R	possibly damaging	Het
Gm14443	A	G	2: 175,017,610 (GRCm39)		probably benign	Het
Gm21028	A	T	7: 42,227,904 (GRCm39)	C37S	probably damaging	Het
Gpr179	G	T	11: 97,229,551 (GRCm39)	A868E	probably damaging	Het
Greb1l	T	A	18: 10,532,796 (GRCm39)	Y897N	possibly damaging	Het
Grid1	A	T	14: 35,045,360 (GRCm39)	Y401F	probably benign	Het
Heatr5a	G	A	12: 51,946,068 (GRCm39)	T1181I	probably benign	Het
Herc4	G	A	10: 63,144,125 (GRCm39)	V753I	probably damaging	Het
Htra1	A	T	7: 130,563,851 (GRCm39)	K241*	probably null	Het
Kat6b	A	G	14: 21,720,093 (GRCm39)	I1482V	probably benign	Het
Kif19a	G	T	11: 114,680,033 (GRCm39)	R790L	possibly damaging	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Lpcat1	T	C	13: 73,659,462 (GRCm39)	L408S	probably damaging	Het
Map4	A	G	9: 109,864,223 (GRCm39)	T483A	probably benign	Het
Mettl3	C	A	14: 52,534,125 (GRCm39)	C483F	probably damaging	Het
Myh13	A	G	11: 67,254,109 (GRCm39)	D1543G	possibly damaging	Het
Myh2	G	A	11: 67,070,209 (GRCm39)	V414I	probably damaging	Het
Myh7b	C	T	2: 155,470,722 (GRCm39)	R1057C	probably damaging	Het
Myo9b	A	G	8: 71,812,246 (GRCm39)	S2006G	probably benign	Het
Nelfcd	A	G	2: 174,264,978 (GRCm39)	K239R	probably benign	Het
Nlrp4a	T	C	7: 26,159,077 (GRCm39)	S786P	probably damaging	Het
Or5g23	T	A	2: 85,438,331 (GRCm39)	K308*	probably null	Het
Or6c205	A	G	10: 129,086,972 (GRCm39)	T190A	probably damaging	Het
Pdzrn4	G	T	15: 92,295,216 (GRCm39)	V141L	probably benign	Het
Phip	G	T	9: 82,757,412 (GRCm39)	R1587S	probably damaging	Het
Plce1	A	G	19: 38,726,377 (GRCm39)	E1448G	probably damaging	Het
Plrg1	T	C	3: 82,976,308 (GRCm39)	S326P	possibly damaging	Het
Pom121l2	T	A	13: 22,165,852 (GRCm39)	V41E	probably damaging	Het
Pramel17	C	T	4: 101,695,144 (GRCm39)	V56M	probably damaging	Het
Preb	G	T	5: 31,113,673 (GRCm39)	S311*	probably null	Het
Prss33	T	A	17: 24,053,723 (GRCm39)	D118V	probably damaging	Het
Pum1	C	A	4: 130,499,209 (GRCm39)	Y1008*	probably null	Het
Rassf2	G	A	2: 131,846,326 (GRCm39)	R144C	probably damaging	Het
Rnf123	A	T	9: 107,944,704 (GRCm39)	M429K	probably benign	Het
Rtl1	T	A	12: 109,557,291 (GRCm39)	H1516L	probably benign	Het
Scyl3	T	A	1: 163,764,007 (GRCm39)	N124K	probably damaging	Het
Sec24b	A	G	3: 129,801,220 (GRCm39)	S488P	probably benign	Het
Shc4	T	A	2: 125,520,618 (GRCm39)	D277V	probably damaging	Het
Sorl1	T	A	9: 41,912,814 (GRCm39)	D1389V	probably damaging	Het
Srcap	T	A	7: 127,158,812 (GRCm39)	I2896N	unknown	Het
Steap3	T	A	1: 120,155,564 (GRCm39)	Y465F	probably benign	Het
Tecta	C	A	9: 42,284,193 (GRCm39)	C964F	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem178b	G	A	6: 39,981,181 (GRCm39)	W72*	probably null	Het
Tmem235	T	G	11: 117,751,665 (GRCm39)	Y30D	probably damaging	Het
Tpst1	C	A	5: 130,163,301 (GRCm39)	T366K	probably benign	Het
Trdv2-1	C	A	14: 54,183,848 (GRCm39)	P27T	probably benign	Het
Trim37	G	T	11: 87,058,328 (GRCm39)	L335F	possibly damaging	Het
Usp9y	G	A	Y: 1,341,873 (GRCm39)	R1331W	probably damaging	Het
Vmn1r1	T	G	1: 181,985,002 (GRCm39)	H221P	probably damaging	Het
Vmn2r6	A	T	3: 64,454,671 (GRCm39)	S543T	probably benign	Het
Wdpcp	C	T	11: 21,661,522 (GRCm39)	P265S	probably benign	Het
Wdr64	T	C	1: 175,599,871 (GRCm39)	L566P	possibly damaging	Het
Zfp248	A	G	6: 118,405,891 (GRCm39)	I566T	possibly damaging	Het
Zfp595	T	A	13: 67,465,463 (GRCm39)	I270F	probably damaging	Het
Zfp715	A	G	7: 42,948,847 (GRCm39)	L371P	probably damaging	Het

Other mutations in Lrrc69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Lrrc69	APN	4	14,773,663 (GRCm39)	splice site	probably benign
IGL01886:Lrrc69	APN	4	14,703,984 (GRCm39)	missense	probably benign	0.01
IGL03084:Lrrc69	APN	4	14,708,631 (GRCm39)	missense	probably damaging	1.00
R0588:Lrrc69	UTSW	4	14,704,001 (GRCm39)	missense	possibly damaging	0.71
R1664:Lrrc69	UTSW	4	14,775,079 (GRCm39)	missense	probably damaging	1.00
R1956:Lrrc69	UTSW	4	14,665,986 (GRCm39)	missense	possibly damaging	0.50
R1984:Lrrc69	UTSW	4	14,708,669 (GRCm39)	missense	possibly damaging	0.93
R1985:Lrrc69	UTSW	4	14,708,669 (GRCm39)	missense	possibly damaging	0.93
R1986:Lrrc69	UTSW	4	14,708,669 (GRCm39)	missense	possibly damaging	0.93
R2229:Lrrc69	UTSW	4	14,773,694 (GRCm39)	missense	probably benign	0.00
R3691:Lrrc69	UTSW	4	14,795,980 (GRCm39)	missense	possibly damaging	0.94
R5691:Lrrc69	UTSW	4	14,769,648 (GRCm39)	missense	probably damaging	1.00
R5882:Lrrc69	UTSW	4	14,708,690 (GRCm39)	missense	probably damaging	1.00
R6113:Lrrc69	UTSW	4	14,708,673 (GRCm39)	missense	probably benign	0.00
R7228:Lrrc69	UTSW	4	14,775,027 (GRCm39)	missense	probably damaging	1.00
R7880:Lrrc69	UTSW	4	14,703,946 (GRCm39)	missense	possibly damaging	0.90
R8047:Lrrc69	UTSW	4	14,773,726 (GRCm39)	missense	probably benign	0.07
R8375:Lrrc69	UTSW	4	14,795,994 (GRCm39)	missense	probably benign	0.36
R8547:Lrrc69	UTSW	4	14,704,014 (GRCm39)	missense	probably benign	0.00
R9484:Lrrc69	UTSW	4	14,666,012 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TGTGGAGGATATGTATGATCAAAGC -3'
(R):5'- ATGTAGATGTCAGCAAACTTACTGC -3'

Sequencing Primer
(F):5'- TGAATTCAAGGCCATCCTGG -3'
(R):5'- ACTGCTTTTCCCATTTGGAGATAG -3'

Posted On

2022-04-18