Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02799:Lrrc9'

392297

Institutional Source

Beutler Lab

Gene Symbol

Lrrc9

Ensembl Gene

ENSMUSG00000021090

Gene Name

leucine rich repeat containing 9

Synonyms

4930432K16Rik, 4921529O18Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

IGL02799 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

72441866-72530750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72506404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1360 (E1360G)

Ref Sequence

ENSEMBL: ENSMUSP00000124394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162159] [ENSMUST00000220791] [ENSMUST00000221360]

AlphaFold

Q8CDN9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161195

Predicted Effect

probably damaging
Transcript: ENSMUST00000162159
AA Change: E1360G

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

SMART Domains

Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: E1360G

Domain	Start	End	E-Value	Type
LRR	53	74	5.39e2	SMART
LRR	75	96	1.14e2	SMART
LRR	97	118	7.9e-4	SMART
LRR	119	140	2.75e-3	SMART
LRR	141	164	2.27e1	SMART
LRR	164	185	1.87e1	SMART
LRRcap	210	228	6.12e1	SMART
low complexity region	373	384	N/A	INTRINSIC
low complexity region	424	436	N/A	INTRINSIC
LRR	705	726	1.41e2	SMART
LRR	727	748	6.78e1	SMART
LRR	749	771	1.37e1	SMART
LRRcap	792	810	2.26e2	SMART
LRR	898	919	2.62e1	SMART
LRR	920	941	5.17e1	SMART
LRR	942	965	2.67e-1	SMART
LRR	966	991	1.22e1	SMART
LRR	1013	1032	4.42e2	SMART
LRRcap	1030	1048	4.37e0	SMART
low complexity region	1108	1119	N/A	INTRINSIC
LRR	1128	1150	2.4e1	SMART
LRR	1191	1209	5.7e2	SMART
LRR	1215	1236	1.03e-2	SMART
LRR	1237	1260	8.48e0	SMART
LRR	1283	1304	2.67e-1	SMART
Blast:LRR	1308	1333	4e-6	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000220791
AA Change: E274G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000221360

Meta Mutation Damage Score

0.1610

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	G	6: 86,106,252	N444S	possibly damaging	Het
Atp2b2	A	T	6: 113,762,852	Y823*	probably null	Het
Atp2c1	A	C	9: 105,413,043		probably benign	Het
Capns1	A	T	7: 30,192,219	D133E	probably benign	Het
Cast	A	G	13: 74,736,752	V361A	probably damaging	Het
Cd69	G	A	6: 129,268,260		probably benign	Het
Celsr2	T	A	3: 108,414,062	D478V	probably damaging	Het
Cenpf	T	C	1: 189,659,652	E661G	probably damaging	Het
Chrna1	A	G	2: 73,574,641		probably benign	Het
Clec5a	C	A	6: 40,578,049	V138F	probably damaging	Het
Ctsj	T	A	13: 61,003,820	I95F	probably benign	Het
Dcaf1	T	A	9: 106,857,940	S696T	probably benign	Het
Dcp1a	T	C	14: 30,519,679		probably null	Het
Dnajc14	C	T	10: 128,806,856	P216S	possibly damaging	Het
Dst	T	C	1: 34,179,849	I1790T	possibly damaging	Het
Ehmt1	A	T	2: 24,815,806	H789Q	probably damaging	Het
Exoc7	A	T	11: 116,301,181	L188Q	probably damaging	Het
Faap100	A	G	11: 120,370,735	L823P	probably damaging	Het
Fdxacb1	T	A	9: 50,772,596	S620T	probably benign	Het
Fhl2	C	T	1: 43,128,402	R177Q	probably benign	Het
Gars	C	A	6: 55,063,099	T337K	probably damaging	Het
Ggta1	A	T	2: 35,422,199	F56I	probably damaging	Het
Gm10715	A	C	9: 3,038,062		probably benign	Het
Gpr108	T	A	17: 57,237,482	I343F	probably damaging	Het
Gpr12	T	A	5: 146,583,819	I98F	possibly damaging	Het
Hk2	A	G	6: 82,760,238	L3P	probably damaging	Het
Imp4	C	A	1: 34,440,177		probably benign	Het
Insrr	G	A	3: 87,813,581	V1049M	probably damaging	Het
Klhl24	T	C	16: 20,114,581	V314A	probably damaging	Het
Krt32	A	T	11: 100,087,907	V107D	possibly damaging	Het
Krtap5-1	G	A	7: 142,296,505	Q189*	probably null	Het
Mdc1	G	T	17: 35,846,191	L163F	possibly damaging	Het
Mroh1	T	G	15: 76,392,461		probably null	Het
Myh8	A	G	11: 67,301,592		probably benign	Het
Ndufab1	A	T	7: 122,093,726		probably benign	Het
Nek3	A	G	8: 22,158,719		probably benign	Het
Ngly1	A	T	14: 16,260,636	I107L	probably benign	Het
Nkain4	A	T	2: 180,935,935		probably null	Het
Nsd2	T	A	5: 33,864,788		probably benign	Het
Olfr1094	A	T	2: 86,828,956	H68L	probably damaging	Het
Olfr513	A	T	7: 108,755,623	M256L	probably benign	Het
Olfr732	A	G	14: 50,281,344	I303T	probably benign	Het
Olfr857	T	A	9: 19,713,018	Y64N	probably damaging	Het
Olfr874	T	A	9: 37,746,509	I125N	probably damaging	Het
Pcnt	G	A	10: 76,412,583	Q901*	probably null	Het
Pctp	C	A	11: 89,991,087	W81C	probably damaging	Het
Pik3r5	A	T	11: 68,495,947	I801F	probably damaging	Het
Ptprj	A	T	2: 90,469,598	N193K	probably benign	Het
Rab11fip1	A	T	8: 27,152,760	D670E	probably benign	Het
Racgap1	T	C	15: 99,632,747	K201E	probably benign	Het
Ranbp2	T	C	10: 58,480,264	F2269L	probably damaging	Het
Rint1	C	A	5: 23,819,480	A760D	possibly damaging	Het
Ryr2	G	A	13: 11,665,962	P3166S	probably damaging	Het
Snap29	A	G	16: 17,422,503	N158D	probably benign	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
St6galnac1	G	T	11: 116,766,647		probably benign	Het
Strc	G	A	2: 121,379,236	T202I	probably damaging	Het
Stxbp4	A	G	11: 90,494,600		probably null	Het
Syne1	A	T	10: 5,359,059	M650K	probably damaging	Het
Tbc1d2b	C	T	9: 90,223,434		probably benign	Het
Tcfl5	A	T	2: 180,638,626	I328N	possibly damaging	Het
Tenm2	A	G	11: 36,273,408	Y337H	probably damaging	Het
Tgfbr2	T	C	9: 116,110,136	K233E	possibly damaging	Het
Tnk2	T	C	16: 32,665,881		probably benign	Het
Trbv13-2	A	G	6: 41,121,537		probably benign	Het
Usp6nl	T	A	2: 6,427,549		probably benign	Het
Vmn2r62	A	G	7: 42,787,972	S363P	possibly damaging	Het
Vnn3	T	C	10: 23,851,971	I93T	possibly damaging	Het
Ylpm1	A	G	12: 85,044,484	D1108G	probably damaging	Het
Zbtb17	G	A	4: 141,463,380	G170S	probably benign	Het
Zcchc11	T	C	4: 108,513,528	Y875H	probably benign	Het
Zfyve26	T	C	12: 79,273,310	E1087G	probably benign	Het

Other mutations in Lrrc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Lrrc9	APN	12	72486243	missense	possibly damaging	0.63
IGL00843:Lrrc9	APN	12	72463417	missense	possibly damaging	0.78
IGL01923:Lrrc9	APN	12	72510412	missense	possibly damaging	0.93
IGL02027:Lrrc9	APN	12	72470334	splice site	probably benign
IGL02271:Lrrc9	APN	12	72510381	missense	probably benign	0.06
IGL02398:Lrrc9	APN	12	72466903	missense	probably benign
IGL02795:Lrrc9	APN	12	72478768	missense	probably damaging	1.00
IGL02931:Lrrc9	APN	12	72454149	missense	probably damaging	1.00
IGL03257:Lrrc9	APN	12	72449768	missense	probably benign
BB006:Lrrc9	UTSW	12	72486297	missense	possibly damaging	0.92
BB016:Lrrc9	UTSW	12	72486297	missense	possibly damaging	0.92
R0172:Lrrc9	UTSW	12	72463486	missense	possibly damaging	0.50
R0315:Lrrc9	UTSW	12	72456028	missense	probably damaging	0.96
R0492:Lrrc9	UTSW	12	72478763	missense	possibly damaging	0.47
R0617:Lrrc9	UTSW	12	72483014	missense	probably damaging	1.00
R0639:Lrrc9	UTSW	12	72486288	missense	probably damaging	1.00
R0987:Lrrc9	UTSW	12	72510382	missense	probably benign	0.00
R1325:Lrrc9	UTSW	12	72497104	missense	probably damaging	0.99
R1465:Lrrc9	UTSW	12	72500759	missense	probably benign	0.05
R1465:Lrrc9	UTSW	12	72500759	missense	probably benign	0.05
R1479:Lrrc9	UTSW	12	72460825	nonsense	probably null
R1564:Lrrc9	UTSW	12	72487053	missense	probably damaging	1.00
R1626:Lrrc9	UTSW	12	72495661	splice site	probably null
R1632:Lrrc9	UTSW	12	72460020	splice site	probably null
R1715:Lrrc9	UTSW	12	72477299	missense	probably damaging	1.00
R1743:Lrrc9	UTSW	12	72456117	missense	probably damaging	1.00
R1779:Lrrc9	UTSW	12	72455998	nonsense	probably null
R1866:Lrrc9	UTSW	12	72497138	missense	probably damaging	0.97
R1878:Lrrc9	UTSW	12	72476164	critical splice donor site	probably null
R1990:Lrrc9	UTSW	12	72497861	missense	probably damaging	0.99
R2361:Lrrc9	UTSW	12	72463470	missense	possibly damaging	0.52
R3752:Lrrc9	UTSW	12	72460806	nonsense	probably null
R3833:Lrrc9	UTSW	12	72482991	missense	probably damaging	1.00
R4134:Lrrc9	UTSW	12	72466966	missense	probably benign	0.00
R4651:Lrrc9	UTSW	12	72477386	missense	probably damaging	1.00
R4652:Lrrc9	UTSW	12	72477386	missense	probably damaging	1.00
R4659:Lrrc9	UTSW	12	72470264	missense	probably damaging	1.00
R4831:Lrrc9	UTSW	12	72499679	missense	probably damaging	1.00
R4857:Lrrc9	UTSW	12	72499692	missense	possibly damaging	0.94
R5017:Lrrc9	UTSW	12	72506325	missense	possibly damaging	0.86
R5163:Lrrc9	UTSW	12	72449389	missense	probably damaging	1.00
R5279:Lrrc9	UTSW	12	72495594	missense	possibly damaging	0.80
R5434:Lrrc9	UTSW	12	72454088	missense	probably damaging	0.98
R5783:Lrrc9	UTSW	12	72456053	missense	possibly damaging	0.62
R6021:Lrrc9	UTSW	12	72469231	missense	probably damaging	0.97
R6214:Lrrc9	UTSW	12	72459853	missense	probably damaging	1.00
R6255:Lrrc9	UTSW	12	72487023	missense	probably benign	0.33
R6538:Lrrc9	UTSW	12	72500929	missense	probably benign	0.08
R6563:Lrrc9	UTSW	12	72486395	splice site	probably null
R6672:Lrrc9	UTSW	12	72473936	missense	possibly damaging	0.88
R6919:Lrrc9	UTSW	12	72506393	missense	probably benign	0.01
R6929:Lrrc9	UTSW	12	72450772	missense	probably benign	0.41
R7092:Lrrc9	UTSW	12	72463464	missense	possibly damaging	0.81
R7150:Lrrc9	UTSW	12	72466952	missense	probably benign	0.00
R7338:Lrrc9	UTSW	12	72463531	splice site	probably null
R7398:Lrrc9	UTSW	12	72500816	missense	probably damaging	0.98
R7477:Lrrc9	UTSW	12	72503527	critical splice donor site	probably null
R7501:Lrrc9	UTSW	12	72449716	missense	probably damaging	1.00
R7542:Lrrc9	UTSW	12	72506320	missense	probably damaging	0.96
R7816:Lrrc9	UTSW	12	72495692	missense	probably damaging	1.00
R7870:Lrrc9	UTSW	12	72486190	missense	probably damaging	0.99
R7929:Lrrc9	UTSW	12	72486297	missense	possibly damaging	0.92
R8042:Lrrc9	UTSW	12	72460906	missense	probably benign	0.02
R8108:Lrrc9	UTSW	12	72454059	missense	probably damaging	1.00
R8192:Lrrc9	UTSW	12	72449389	missense	probably damaging	1.00
R8244:Lrrc9	UTSW	12	72499610	missense	probably benign	0.22
R8333:Lrrc9	UTSW	12	72481543	missense	probably benign	0.38
R9288:Lrrc9	UTSW	12	72476084	missense	probably benign	0.01
R9324:Lrrc9	UTSW	12	72449397	missense	probably damaging	1.00
R9342:Lrrc9	UTSW	12	72459993	missense	probably damaging	1.00
X0025:Lrrc9	UTSW	12	72497060	missense	probably damaging	1.00
Z1176:Lrrc9	UTSW	12	72477393	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGTGGCCATTCCCAAGC -3'
(R):5'- TTCTATAAACATGGCATGTCCCAG -3'

Sequencing Primer
(F):5'- GCCATTCCCAAGCTGCCTTC -3'
(R):5'- TGTCATTTGAAGTACTGAACAGTG -3'

Posted On

2016-06-09