Mutagenetix > Incidental Mutation

Incidental Mutation 'R1465:Lrrc9'

201089

Institutional Source

Beutler Lab

Gene Symbol

Lrrc9

Ensembl Gene

ENSMUSG00000021090

Gene Name

leucine rich repeat containing 9

Synonyms

4930432K16Rik, 4921529O18Rik

MMRRC Submission

039519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R1465 (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 72500759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 150 (N150S)

Ref Sequence

ENSEMBL: ENSMUSP00000152689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161284] [ENSMUST00000162159] [ENSMUST00000220791] [ENSMUST00000221360]

AlphaFold

Q8CDN9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161195

Predicted Effect

probably benign
Transcript: ENSMUST00000161284

SMART Domains

Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090

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 benign
Transcript: ENSMUST00000162159
AA Change: N1236S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: N1236S

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 benign
Transcript: ENSMUST00000220791
AA Change: N150S

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000221360
AA Change: N1237S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 97.3%
3x: 96.5%
10x: 93.6%
20x: 86.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,740,566	Y121H	probably damaging	Het
Abca13	G	T	11: 9,399,303	G3626W	probably damaging	Het
Acvr1c	A	G	2: 58,284,961	Y192H	probably damaging	Het
Afm	A	T	5: 90,550,341	D534V	probably damaging	Het
Agl	T	C	3: 116,771,372	E1076G	probably benign	Het
Angptl3	A	T	4: 99,037,520	H361L	probably benign	Het
Apob	T	C	12: 8,011,421	F3301S	possibly damaging	Het
Arhgef33	T	A	17: 80,367,301	C376S	possibly damaging	Het
Ass1	A	G	2: 31,520,416	*413W	probably null	Het
Atp6v1h	T	A	1: 5,095,688	L127Q	probably damaging	Het
Bcl2l1	G	A	2: 152,829,950	S14F	probably damaging	Het
Birc6	G	A	17: 74,623,858	A2477T	probably benign	Het
Bpifb9a	G	A	2: 154,271,021	A589T	possibly damaging	Het
Casp9	C	A	4: 141,805,840	T252K	probably benign	Het
Cct4	G	A	11: 23,002,922	D533N	probably damaging	Het
Clcn6	A	C	4: 148,013,901	I555S	probably damaging	Het
Col4a4	A	T	1: 82,497,822		probably null	Het
Cyp2d10	A	T	15: 82,403,928		probably null	Het
D930048N14Rik	A	G	11: 51,654,913		probably benign	Het
Dhfr	A	G	13: 92,368,307		probably benign	Het
Dlg5	T	C	14: 24,154,696		probably null	Het
Dnah11	T	C	12: 118,038,695	E2240G	probably damaging	Het
Dnmt3a	A	G	12: 3,866,088	E17G	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Dpy19l2	A	G	9: 24,669,322	M241T	probably benign	Het
Dpy19l4	A	G	4: 11,296,034	S212P	probably damaging	Het
Ephb6	T	C	6: 41,616,106	F426S	probably damaging	Het
F5	A	T	1: 164,198,833	D1658V	probably benign	Het
Faah	A	T	4: 115,999,558	V469E	probably damaging	Het
Fas	T	C	19: 34,316,613	C123R	probably damaging	Het
Fhod1	T	C	8: 105,338,914		probably benign	Het
Filip1	A	G	9: 79,898,307	V55A	probably benign	Het
Frmpd1	G	A	4: 45,273,197	R372Q	probably damaging	Het
Glyctk	C	T	9: 106,157,607	G87S	probably damaging	Het
Gm4737	T	C	16: 46,153,848	K389E	probably benign	Het
Gm5096	T	G	18: 87,757,258	F302V	probably damaging	Het
Golga3	T	C	5: 110,209,878	L1080P	probably damaging	Het
Gpr137	T	C	19: 6,938,444	T281A	probably benign	Het
Grap2	T	A	15: 80,648,411		probably null	Het
Hlcs	T	C	16: 94,268,292	D170G	probably damaging	Het
Hook1	A	G	4: 96,013,256	T484A	probably benign	Het
Hoxa5	T	A	6: 52,203,791	H187L	probably benign	Het
Inpp1	G	T	1: 52,790,094	S255R	probably benign	Het
Inpp4b	T	A	8: 81,768,157	V67E	probably damaging	Het
Iqgap3	A	G	3: 88,087,309	N105S	probably damaging	Het
Kcnq5	A	G	1: 21,469,468		probably null	Het
Klhl1	T	C	14: 96,240,213	N473S	probably benign	Het
Klk1b24	C	A	7: 44,191,361	T71N	probably benign	Het
Loxhd1	A	G	18: 77,380,573		probably null	Het
Lrp1b	C	T	2: 41,111,059	R2165Q	probably benign	Het
Lrp2bp	A	T	8: 46,025,235	Q328L	possibly damaging	Het
Lrrc63	T	A	14: 75,107,389	K419N	possibly damaging	Het
Lrrn4	C	A	2: 132,872,075	C317F	probably damaging	Het
Ltbp2	T	C	12: 84,813,300	S627G	probably damaging	Het
Macf1	A	T	4: 123,493,154	S1224T	probably damaging	Het
Meis2	A	C	2: 116,058,670	H200Q	probably benign	Het
Mesd	C	A	7: 83,895,582	A80E	probably benign	Het
Mtor	G	T	4: 148,525,993		probably benign	Het
Myo3a	T	C	2: 22,577,927	F398L	probably benign	Het
Nagpa	G	T	16: 5,201,528		probably benign	Het
Nanp	A	G	2: 151,030,829	C60R	probably benign	Het
Nectin2	T	G	7: 19,730,116	M313L	probably benign	Het
Nek4	C	T	14: 30,956,887	H123Y	probably damaging	Het
Nploc4	A	G	11: 120,408,781	V371A	probably damaging	Het
Ntrk3	T	C	7: 78,356,014		probably benign	Het
Olfr1463	T	A	19: 13,234,901	V217E	possibly damaging	Het
Olfr156	A	G	4: 43,820,723	F213L	probably benign	Het
Olfr658	T	C	7: 104,644,946	N140S	probably benign	Het
Olfr740	A	G	14: 50,453,177	T42A	possibly damaging	Het
Pcdh20	T	A	14: 88,469,237	Q209L	probably benign	Het
Pcdhb20	G	A	18: 37,504,697	R92H	probably damaging	Het
Pgap1	T	C	1: 54,528,555	H377R	probably benign	Het
Phyhipl	G	T	10: 70,570,968	P52Q	probably damaging	Het
Plekhg4	T	C	8: 105,381,040		probably benign	Het
Pwwp2a	T	A	11: 43,705,556	V516E	possibly damaging	Het
Rack1	T	C	11: 48,801,759	V69A	probably damaging	Het
Rexo5	T	A	7: 119,801,358		probably null	Het
Rnf123	T	C	9: 108,071,466		probably benign	Het
Rock1	G	T	18: 10,072,863	Q1161K	possibly damaging	Het
Rps6ka2	T	C	17: 7,292,867	L568P	probably damaging	Het
Seh1l	T	C	18: 67,783,984	S78P	probably damaging	Het
Serpinb3b	A	T	1: 107,155,843		probably null	Het
Setd1a	T	C	7: 127,788,340		probably benign	Het
Setx	G	T	2: 29,140,389		probably null	Het
Sh3bp1	T	C	15: 78,907,345		probably benign	Het
Shc2	G	T	10: 79,631,302	R146S	probably damaging	Het
Skap2	T	C	6: 51,909,368	T5A	probably benign	Het
Skor2	A	T	18: 76,876,645		probably benign	Het
Slc35a3	T	C	3: 116,687,334	I93M	probably benign	Het
Sohlh1	C	T	2: 25,843,347	G295D	probably damaging	Het
Speg	A	G	1: 75,428,484		probably benign	Het
Sult2a8	A	C	7: 14,416,283	C168G	probably benign	Het
Tax1bp1	T	C	6: 52,727,194		probably benign	Het
Tbc1d4	T	C	14: 101,447,688	I1176V	possibly damaging	Het
Tcof1	A	G	18: 60,818,954		probably benign	Het
Thada	A	T	17: 84,436,676	F735I	possibly damaging	Het
Tle1	A	C	4: 72,139,831	H52Q	probably damaging	Het
Tmem101	A	T	11: 102,153,329	V244E	probably damaging	Het
Tnfrsf26	C	A	7: 143,617,931	C95F	probably damaging	Het
Uspl1	T	C	5: 149,214,032	S482P	probably benign	Het
Vmn2r118	G	T	17: 55,610,935	N192K	probably benign	Het
Vmn2r14	C	T	5: 109,220,329	V266I	possibly damaging	Het
Vmn2r51	A	G	7: 10,100,322	I263T	probably damaging	Het
Zfp937	T	A	2: 150,239,047	C332*	probably null	Het
Zscan21	T	A	5: 138,125,208	S50T	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
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
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
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'- AAGGCTGCTCACTAGAGGTTAGGG -3'
(R):5'- TGCCTGTGACATGCCGATAAAGAG -3'

Sequencing Primer
(F):5'- TAGGGAAAGATCAGTTTGTGCTAC -3'
(R):5'- GCACCCTCAAATAATGTTACCTGG -3'

Posted On

2014-05-23