Mutagenetix > Incidental Mutation

Incidental Mutation 'R0639:Lrrc9'

56947

Institutional Source

Beutler Lab

Gene Symbol

Lrrc9

Ensembl Gene

ENSMUSG00000021090

Gene Name

leucine rich repeat containing 9

Synonyms

4930432K16Rik, 4921529O18Rik

MMRRC Submission

038828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R0639 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72441866-72530750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72486288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 977 (N977S)

Ref Sequence

ENSEMBL: ENSMUSP00000124394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161284] [ENSMUST00000162159] [ENSMUST00000221360]

AlphaFold

Q8CDN9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161195

Predicted Effect

probably damaging
Transcript: ENSMUST00000161284
AA Change: N978S

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

SMART Domains

Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: N978S

Domain	Start	End	E-Value	Type
Pfam:LRR_4	77	118	2.8e-11	PFAM
LRR	119	140	8.49e1	SMART
LRR	141	164	2.27e1	SMART
LRR	165	187	2.09e2	SMART
LRRcap	210	228	6.12e1	SMART
low complexity region	373	384	N/A	INTRINSIC
low complexity region	424	436	N/A	INTRINSIC
LRR	706	727	1.41e2	SMART
LRR	728	749	6.78e1	SMART
LRR	750	773	7.17e1	SMART
LRRcap	793	811	2.26e2	SMART
LRR	943	966	2.67e-1	SMART
LRR	967	992	1.22e1	SMART
LRRcap	1031	1049	4.37e0	SMART
low complexity region	1109	1120	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162159
AA Change: N977S

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

SMART Domains

Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: N977S

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: ENSMUST00000221360
AA Change: N978S

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	C	T	17: 45,733,073	W86*	probably null	Het
5830411N06Rik	A	G	7: 140,247,959	N27D	probably benign	Het
Acadl	T	C	1: 66,857,408	H75R	probably benign	Het
Adamtsl1	T	C	4: 86,277,143	F599S	probably damaging	Het
Adrb3	T	C	8: 27,228,265	N52S	probably damaging	Het
Agbl3	T	A	6: 34,799,705	L377Q	probably damaging	Het
Akap9	T	C	5: 4,060,318	L3007P	probably damaging	Het
Amer3	T	A	1: 34,587,821	Y380*	probably null	Het
Ankrd13d	A	T	19: 4,273,019		probably null	Het
Ap4m1	T	A	5: 138,176,239	C235S	probably benign	Het
Arhgap29	T	C	3: 122,007,641	F675S	probably damaging	Het
Asah2	C	A	19: 32,008,639	V544F	probably damaging	Het
Ash2l	A	G	8: 25,823,291	I389T	possibly damaging	Het
Bend5	T	C	4: 111,433,298	S164P	probably benign	Het
Cacna1d	A	G	14: 30,171,294		probably null	Het
Cdc25b	A	G	2: 131,197,262	N516D	probably benign	Het
Cdc27	A	G	11: 104,531,734	Y125H	probably damaging	Het
Cdk5r2	C	T	1: 74,855,836	L247F	probably damaging	Het
Cenpf	C	A	1: 189,658,062	G1191V	probably benign	Het
Cops4	C	T	5: 100,537,460	T293I	possibly damaging	Het
Csmd3	A	G	15: 47,913,940	L1294P	probably damaging	Het
Dclre1a	T	C	19: 56,538,440	Y848C	probably damaging	Het
Disp2	A	T	2: 118,790,844	I686F	possibly damaging	Het
Dnah6	T	A	6: 73,022,412	Y4012F	probably benign	Het
Dnajc11	C	G	4: 151,969,936	R200G	probably damaging	Het
Dnhd1	A	T	7: 105,696,464	D2272V	possibly damaging	Het
Elane	A	C	10: 79,886,349	R5S	possibly damaging	Het
Entpd7	G	A	19: 43,691,094	V29M	probably benign	Het
Fanca	A	G	8: 123,289,359		probably null	Het
Fgl1	G	T	8: 41,191,624	T281K	probably benign	Het
Flii	T	C	11: 60,722,997		probably null	Het
Foxn1	T	C	11: 78,371,144	D133G	possibly damaging	Het
Fzd7	T	A	1: 59,484,560	M534K	probably damaging	Het
Galnt5	A	G	2: 57,999,395	T336A	probably benign	Het
Gli3	G	A	13: 15,724,715	D896N	probably damaging	Het
Gsx1	G	T	5: 147,189,946	W193L	probably damaging	Het
Gtpbp3	A	T	8: 71,492,735	I485F	probably damaging	Het
H2-M11	A	G	17: 36,547,391	T26A	probably benign	Het
Igfbp7	T	C	5: 77,351,980	D243G	probably damaging	Het
Il31ra	A	T	13: 112,525,843	D477E	possibly damaging	Het
Inmt	A	C	6: 55,171,227	V139G	probably damaging	Het
Inpp5j	T	A	11: 3,501,147	M501L	probably benign	Het
Itsn2	T	C	12: 4,712,556	F1579L	probably damaging	Het
Kat2b	C	A	17: 53,567,538	A70E	probably benign	Het
Klhl20	T	C	1: 161,093,711	E58G	probably damaging	Het
Krt79	A	T	15: 101,931,548	Y337*	probably null	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Letm1	T	C	5: 33,769,426	I176V	possibly damaging	Het
Lingo3	C	A	10: 80,835,784	R104L	probably benign	Het
Lrig3	T	G	10: 126,010,221	C840G	probably damaging	Het
Lrrk2	T	A	15: 91,772,996	M1831K	probably benign	Het
Mn1	A	T	5: 111,419,316	D384V	probably damaging	Het
Morc3	C	A	16: 93,853,850	H319Q	probably damaging	Het
Morn1	T	C	4: 155,089,503	F56L	possibly damaging	Het
Mrpl53	G	T	6: 83,109,411	V64L	probably damaging	Het
Myo15	T	A	11: 60,479,336	V974D	probably benign	Het
Neb	A	G	2: 52,256,124	V2947A	possibly damaging	Het
Nfasc	A	C	1: 132,603,816	N737K	probably damaging	Het
Nlk	T	C	11: 78,572,277	D464G	possibly damaging	Het
Nlrc4	C	T	17: 74,426,963	R985K	probably benign	Het
Nsun6	T	C	2: 14,996,336	K470E	probably benign	Het
Nup85	T	G	11: 115,564,531	M1R	probably null	Het
Olfr887	G	A	9: 38,085,370	C178Y	probably damaging	Het
Otop1	T	C	5: 38,287,948	V150A	possibly damaging	Het
Pclo	C	T	5: 14,681,749	R296*	probably null	Het
Pdzd2	A	T	15: 12,458,058	C240S	possibly damaging	Het
Plekhg5	A	G	4: 152,114,120	T922A	probably benign	Het
Plekhm2	A	C	4: 141,642,070	L101R	probably damaging	Het
Plscr3	T	A	11: 69,847,994	C161S	probably benign	Het
Prr14l	C	T	5: 32,828,915	D1079N	probably benign	Het
Ptpru	A	T	4: 131,771,179	V1377E	possibly damaging	Het
Rab37	C	A	11: 115,158,702	D112E	probably benign	Het
Raet1e	T	A	10: 22,174,375	I19N	probably damaging	Het
Rassf5	T	C	1: 131,245,066	Y22C	probably damaging	Het
Rp1	T	C	1: 4,346,498	T1464A	probably benign	Het
Safb	T	A	17: 56,601,092		probably benign	Het
Scarf2	A	G	16: 17,806,505		probably null	Het
Sh3d19	T	C	3: 86,106,973	S415P	probably benign	Het
Slc26a9	T	A	1: 131,763,804	L595Q	probably damaging	Het
Slc4a8	T	C	15: 100,796,550	Y470H	probably damaging	Het
Slitrk3	T	C	3: 73,049,649	N597D	probably benign	Het
Spata31	T	A	13: 64,922,213	V725E	probably benign	Het
Spink12	T	A	18: 44,107,764	C72*	probably null	Het
Spink5	T	A	18: 44,012,975		probably null	Het
Stk40	C	A	4: 126,118,332	S9*	probably null	Het
Sypl	A	T	12: 32,965,421	T40S	probably damaging	Het
Tbc1d8	C	T	1: 39,391,209	E438K	probably benign	Het
Tdrd7	A	G	4: 45,989,102	T111A	probably benign	Het
Tg	A	T	15: 66,741,484		probably null	Het
Tlr5	T	A	1: 182,973,889	W253R	probably damaging	Het
Tmprss11c	C	T	5: 86,235,469	C353Y	probably damaging	Het
Tnfrsf8	T	A	4: 145,288,027	M271L	probably benign	Het
Toe1	T	C	4: 116,806,750	N21S	probably benign	Het
Tpp2	T	C	1: 43,975,447	F649L	probably benign	Het
Ttll1	G	A	15: 83,502,225	Q60*	probably null	Het
Vcp	C	T	4: 42,982,565	R709Q	probably benign	Het
Vmn1r119	T	A	7: 21,011,668	H263L	possibly damaging	Het
Vmn1r195	C	A	13: 22,278,941	Q194K	probably damaging	Het
Vmn1r33	T	C	6: 66,611,799	Y257C	probably damaging	Het
Vmn2r15	A	G	5: 109,293,015	F326L	probably benign	Het
Wbp11	A	T	6: 136,816,110		probably benign	Het
Wwp2	T	G	8: 107,517,946	V250G	probably benign	Het
Xpnpep3	T	C	15: 81,430,837	V246A	probably benign	Het
Zcchc14	G	A	8: 121,605,449	R419*	probably null	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
IGL02799:Lrrc9	UTSW	12	72506404	missense	probably damaging	1.00
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
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
R9557:Lrrc9	UTSW	12	72486207	missense	probably benign	0.01
R9624:Lrrc9	UTSW	12	72450812	missense	probably benign	0.19
R9677:Lrrc9	UTSW	12	72450765	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'- GACTCTGTCCTTCTGAAGCACACAC -3'
(R):5'- AAGCACAGTAAATGCTATTGCACGC -3'

Sequencing Primer
(F):5'- TTTACACAAGGAGCATCGGTACAG -3'
(R):5'- GTAAATGCTATTGCACGCAGAAC -3'

Posted On

2013-07-11