Mutagenetix > Incidental Mutation

Incidental Mutation 'R7880:Lrrc69'

608684

Institutional Source

Beutler Lab

Gene Symbol

Lrrc69

Ensembl Gene

ENSMUSG00000023151

Gene Name

leucine rich repeat containing 69

Synonyms

1700034K16Rik

MMRRC Submission

045932-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R7880 (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 C at 14703946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 291 (I291M)

Ref Sequence

ENSEMBL: ENSMUSP00000023917 (fasta)

Gene Model

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

AlphaFold

Q9D9Q0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023917
AA Change: I291M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023917
Gene: ENSMUSG00000023151
AA Change: I291M

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

possibly damaging
Transcript: ENSMUST00000108276
AA Change: I291M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103911
Gene: ENSMUSG00000023151
AA Change: I291M

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,511,691 (GRCm39)	D703V	possibly damaging	Het
Adamts1	G	A	16: 85,594,940 (GRCm39)	R340*	probably null	Het
Akap13	A	G	7: 75,235,964 (GRCm39)	T180A	probably damaging	Het
Arhgap31	G	A	16: 38,423,087 (GRCm39)	A993V	probably benign	Het
Asxl3	C	T	18: 22,655,208 (GRCm39)	P1073S	possibly damaging	Het
Bmp3	T	G	5: 99,020,434 (GRCm39)	S286A	probably damaging	Het
Cacna2d4	C	T	6: 119,326,116 (GRCm39)	S1078F	probably damaging	Het
Cd101	A	G	3: 100,915,182 (GRCm39)	L799P	probably benign	Het
Chst13	C	T	6: 90,302,062 (GRCm39)	R28H	possibly damaging	Het
CN725425	T	A	15: 91,130,308 (GRCm39)	C390*	probably null	Het
Crabp1	C	A	9: 54,672,942 (GRCm39)	C82*	probably null	Het
Cyp2b23	A	C	7: 26,372,559 (GRCm39)	V352G	probably damaging	Het
Dmrta1	T	A	4: 89,577,081 (GRCm39)	V179E	possibly damaging	Het
Ect2l	T	C	10: 18,012,702 (GRCm39)	D839G	possibly damaging	Het
Espnl	A	T	1: 91,272,488 (GRCm39)	E616V	possibly damaging	Het
Fam50b	C	A	13: 34,930,802 (GRCm39)	Q93K	probably benign	Het
Focad	C	T	4: 88,319,407 (GRCm39)	R1539C	unknown	Het
Gm14443	T	A	2: 175,011,163 (GRCm39)	I428L	probably benign	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gramd1c	C	G	16: 43,812,439 (GRCm39)	A193P	probably benign	Het
Gsn	A	G	2: 35,173,939 (GRCm39)	H54R	probably damaging	Het
Gucy2g	T	A	19: 55,194,712 (GRCm39)	I902F	probably damaging	Het
H2-T9	T	A	17: 36,438,761 (GRCm39)	H210L	possibly damaging	Het
Heg1	T	C	16: 33,539,879 (GRCm39)	S280P	possibly damaging	Het
Herc1	G	T	9: 66,415,506 (GRCm39)	R4827L	probably damaging	Het
Igsf21	A	G	4: 139,884,819 (GRCm39)	C46R	probably damaging	Het
Kansl1	G	T	11: 104,314,979 (GRCm39)	A353D	probably damaging	Het
Kcnab3	A	G	11: 69,222,290 (GRCm39)	Y311C	probably damaging	Het
Kctd18	A	G	1: 58,006,778 (GRCm39)	I24T	possibly damaging	Het
Lpcat4	C	A	2: 112,070,376 (GRCm39)	H30N	probably benign	Het
Lrrc4c	A	G	2: 97,461,143 (GRCm39)	I590V	probably benign	Het
Nsun6	A	C	2: 15,001,190 (GRCm39)	C455W	probably damaging	Het
Or12e1	T	A	2: 87,022,434 (GRCm39)	C134*	probably null	Het
Or4c3	A	T	2: 89,852,381 (GRCm39)	F10I	probably damaging	Het
Or5ak22	G	T	2: 85,230,379 (GRCm39)	S166Y	possibly damaging	Het
Or7g19	T	G	9: 18,856,024 (GRCm39)	L27V	probably benign	Het
Orc6	T	C	8: 86,031,873 (GRCm39)	I162T	probably benign	Het
Pex13	A	T	11: 23,599,369 (GRCm39)	S381T	probably benign	Het
Ppil1	G	A	17: 29,480,762 (GRCm39)	H54Y	probably damaging	Het
Prrt4	T	C	6: 29,170,155 (GRCm39)	I766V	probably benign	Het
Rab32	C	T	10: 10,422,159 (GRCm39)	V187M	probably damaging	Het
Sema5a	T	A	15: 32,686,954 (GRCm39)	I1022N	probably damaging	Het
Sipa1l2	T	C	8: 126,191,132 (GRCm39)	T953A	probably damaging	Het
Snapc3	T	C	4: 83,353,431 (GRCm39)	S157P	probably damaging	Het
Spink5	A	G	18: 44,119,393 (GRCm39)	R235G	probably benign	Het
Stx5a	G	A	19: 8,719,692 (GRCm39)	G19D	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Taf4	G	A	2: 179,577,726 (GRCm39)	R532*	probably null	Het
Tmpo	T	A	10: 91,001,892 (GRCm39)	K106*	probably null	Het
Trnt1	T	C	6: 106,746,517 (GRCm39)		probably null	Het
Vmn1r228	A	T	17: 20,996,672 (GRCm39)	I282N	probably damaging	Het
Vps13d	A	T	4: 144,907,684 (GRCm39)		probably null	Het
Zfp703	A	G	8: 27,468,718 (GRCm39)	I51V	unknown	Het
Zfp787	A	G	7: 6,135,190 (GRCm39)	F354L	probably benign	Het
Znrf2	T	C	6: 54,794,332 (GRCm39)	V111A	probably benign	Het
Zwint	G	T	10: 72,492,924 (GRCm39)	R182L	probably benign	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
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
R9332:Lrrc69	UTSW	4	14,774,987 (GRCm39)	missense	probably damaging	1.00
R9484:Lrrc69	UTSW	4	14,666,012 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- ATGGAATTTTGATGGAGTGCAC -3'
(R):5'- TGTACAGTGCTGTAGAATCCTAG -3'

Sequencing Primer
(F):5'- AATTTTGATGGAGTGCACGTATTG -3'
(R):5'- GCAAGATTTGTCCTCTCTC -3'

Posted On

2019-12-20