Mutagenetix > Incidental Mutation

Incidental Mutation 'R0492:Lrrc9'

42577

Institutional Source

Beutler Lab

Gene Symbol

Lrrc9

Ensembl Gene

ENSMUSG00000021090

Gene Name

leucine rich repeat containing 9

Synonyms

4921529O18Rik, 4930432K16Rik

MMRRC Submission

038690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R0492 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72481391-72561269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72525537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 828 (S828R)

Ref Sequence

ENSEMBL: ENSMUSP00000152125 (fasta)

Gene Model

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

AlphaFold

Q8CDN9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161195

Predicted Effect

probably benign
Transcript: ENSMUST00000161284
AA Change: S828R

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: S828R

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

noncoding transcript
Transcript: ENSMUST00000161547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161957

Predicted Effect

probably benign
Transcript: ENSMUST00000162159
AA Change: S827R

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: S827R

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

noncoding transcript
Transcript: ENSMUST00000196758

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221360
AA Change: S828R

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

99% (99/100)

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Adgre1	A	G	17: 57,709,742 (GRCm39)	D133G	unknown	Het
Alpl	A	C	4: 137,476,887 (GRCm39)		probably null	Het
Ankrd65	T	C	4: 155,875,133 (GRCm39)		probably benign	Het
Baalc	A	T	15: 38,797,480 (GRCm39)		probably benign	Het
Bpifb5	A	G	2: 154,070,820 (GRCm39)	T204A	probably benign	Het
Bud31	A	G	5: 145,083,265 (GRCm39)	Y77C	probably damaging	Het
Calhm6	G	A	10: 34,003,647 (GRCm39)	R87*	probably null	Het
Capsl	A	G	15: 9,461,930 (GRCm39)		probably benign	Het
Ccna1	A	G	3: 54,956,004 (GRCm39)	V116A	probably damaging	Het
Cdc42bpa	C	A	1: 179,928,755 (GRCm39)	H723N	probably benign	Het
Cfap161	T	C	7: 83,443,245 (GRCm39)	I40V	possibly damaging	Het
CK137956	C	T	4: 127,845,093 (GRCm39)	V217I	probably benign	Het
Cog5	A	G	12: 31,919,460 (GRCm39)	T540A	probably damaging	Het
Cps1	T	C	1: 67,196,995 (GRCm39)	W349R	probably damaging	Het
Crispld2	G	T	8: 120,752,806 (GRCm39)	V285L	probably benign	Het
Crtc2	T	A	3: 90,170,804 (GRCm39)	F626I	probably damaging	Het
Daam1	G	A	12: 71,991,154 (GRCm39)	R256H	unknown	Het
Dhx38	G	T	8: 110,288,576 (GRCm39)		probably benign	Het
Dok4	G	A	8: 95,591,764 (GRCm39)	A324V	probably benign	Het
Dscam	T	C	16: 96,626,982 (GRCm39)		probably null	Het
Dusp16	A	T	6: 134,695,365 (GRCm39)	S489T	probably benign	Het
Ecpas	A	G	4: 58,864,418 (GRCm39)	W288R	probably damaging	Het
Erbin	A	T	13: 103,970,866 (GRCm39)	Y917N	probably damaging	Het
F13b	A	T	1: 139,450,297 (GRCm39)		probably null	Het
Fdx1	C	A	9: 51,874,725 (GRCm39)	A15S	probably benign	Het
Ffar4	A	T	19: 38,085,630 (GRCm39)	Q19L	probably benign	Het
Folh1	A	C	7: 86,395,400 (GRCm39)	V344G	probably damaging	Het
Fscb	T	A	12: 64,520,292 (GRCm39)	E391D	possibly damaging	Het
Gigyf2	G	A	1: 87,368,568 (GRCm39)	G1083R	probably damaging	Het
Gm14403	C	A	2: 177,200,359 (GRCm39)	H102N	probably benign	Het
Gm4847	A	G	1: 166,457,961 (GRCm39)	F464S	probably damaging	Het
Gpam	A	T	19: 55,084,611 (GRCm39)	M56K	possibly damaging	Het
Gpr165	T	A	X: 95,760,778 (GRCm39)	F352I	probably damaging	Het
Grik2	T	G	10: 48,977,260 (GRCm39)	I891L	probably damaging	Het
Gsr	T	C	8: 34,171,603 (GRCm39)		probably benign	Het
Hhla1	A	G	15: 65,808,140 (GRCm39)	F302L	probably benign	Het
Impg1	T	C	9: 80,252,590 (GRCm39)	D453G	possibly damaging	Het
Inpp5d	T	A	1: 87,625,872 (GRCm39)	V495E	possibly damaging	Het
Iqca1l	A	T	5: 24,759,626 (GRCm39)	L48Q	probably damaging	Het
Iqce	A	T	5: 140,660,990 (GRCm39)	L450H	probably damaging	Het
Itfg2	A	G	6: 128,390,486 (GRCm39)		probably null	Het
Kif13a	A	G	13: 46,966,218 (GRCm39)	V400A	possibly damaging	Het
Kif7	T	C	7: 79,363,629 (GRCm39)	Y93C	probably damaging	Het
Krt33a	A	G	11: 99,906,909 (GRCm39)	V22A	probably benign	Het
Lct	T	C	1: 128,228,319 (GRCm39)	D1058G	probably damaging	Het
Lrp6	G	T	6: 134,457,481 (GRCm39)	D774E	possibly damaging	Het
Ly75	A	G	2: 60,138,620 (GRCm39)	W1416R	probably damaging	Het
Mdh2	T	C	5: 135,819,004 (GRCm39)	I320T	possibly damaging	Het
Med13l	T	A	5: 118,876,560 (GRCm39)	V912E	probably damaging	Het
Mgarp	T	C	3: 51,296,456 (GRCm39)	D182G	possibly damaging	Het
Mllt10	T	C	2: 18,151,698 (GRCm39)		probably benign	Het
Mmp28	G	A	11: 83,334,629 (GRCm39)	A375V	probably damaging	Het
Mrps23	T	A	11: 88,101,511 (GRCm39)	H133Q	probably benign	Het
Msh6	T	C	17: 88,282,679 (GRCm39)	S35P	probably benign	Het
Myo3a	A	G	2: 22,328,447 (GRCm39)	D347G	possibly damaging	Het
Npc1l1	T	C	11: 6,173,040 (GRCm39)	K800E	possibly damaging	Het
Or2ag13	A	T	7: 106,473,084 (GRCm39)	Y123N	probably damaging	Het
Or51ai2	T	C	7: 103,586,971 (GRCm39)	I128T	probably benign	Het
Or5i1	T	G	2: 87,613,166 (GRCm39)	I94S	probably damaging	Het
Or5m9	T	C	2: 85,876,931 (GRCm39)	V35A	probably benign	Het
Or5m9	T	C	2: 85,877,278 (GRCm39)	F151L	possibly damaging	Het
Or5t7	G	A	2: 86,506,834 (GRCm39)	P281L	probably damaging	Het
Or6p1	T	A	1: 174,258,129 (GRCm39)	I45N	possibly damaging	Het
Osmr	A	C	15: 6,853,999 (GRCm39)	W570G	probably damaging	Het
Otol1	A	T	3: 69,935,117 (GRCm39)	I370F	probably damaging	Het
Pank2	A	G	2: 131,122,180 (GRCm39)	Y235C	probably damaging	Het
Pias2	T	C	18: 77,193,581 (GRCm39)	S187P	probably damaging	Het
Pkhd1l1	A	G	15: 44,383,086 (GRCm39)	N1115S	probably benign	Het
Pld1	G	T	3: 28,163,966 (GRCm39)	A800S	probably damaging	Het
Prex2	T	C	1: 11,256,857 (GRCm39)		probably benign	Het
Ptpn3	T	C	4: 57,194,304 (GRCm39)	Q908R	probably benign	Het
Rab3gap2	T	A	1: 184,984,589 (GRCm39)		probably benign	Het
Rbm24	A	T	13: 46,573,826 (GRCm39)	N82Y	probably damaging	Het
Rpl27	T	C	11: 101,336,081 (GRCm39)	V47A	possibly damaging	Het
Serpina1f	A	G	12: 103,659,826 (GRCm39)	V152A	possibly damaging	Het
Serpina5	A	G	12: 104,068,392 (GRCm39)	Y151C	probably damaging	Het
Serpinb7	A	G	1: 107,379,737 (GRCm39)	*381W	probably null	Het
Sh2b2	A	G	5: 136,261,117 (GRCm39)	F33S	probably damaging	Het
Slc22a2	A	C	17: 12,834,159 (GRCm39)	I476L	probably benign	Het
Slc6a12	A	T	6: 121,332,331 (GRCm39)	I222F	probably benign	Het
Smim26	G	A	2: 144,437,033 (GRCm39)	D61N	probably damaging	Het
Soat1	A	T	1: 156,268,924 (GRCm39)	Y209N	probably benign	Het
Sorl1	T	C	9: 41,902,667 (GRCm39)	H1630R	probably null	Het
Sptlc2	A	T	12: 87,393,580 (GRCm39)		probably null	Het
Strn3	G	A	12: 51,657,187 (GRCm39)	T642I	probably damaging	Het
Syce1l	T	A	8: 114,380,700 (GRCm39)	D137E	possibly damaging	Het
Syne2	T	C	12: 76,028,837 (GRCm39)		probably null	Het
Tcf25	C	A	8: 124,108,203 (GRCm39)	P86Q	probably benign	Het
Tmem19	A	T	10: 115,197,715 (GRCm39)	Y43*	probably null	Het
Tmem30b	T	C	12: 73,592,942 (GRCm39)	N58D	probably benign	Het
Tnn	A	C	1: 159,948,327 (GRCm39)	I795M	probably damaging	Het
Tnpo1	A	G	13: 98,991,954 (GRCm39)	Y641H	probably damaging	Het
Tra2a	A	T	6: 49,227,889 (GRCm39)		probably benign	Het
Trappc8	A	T	18: 20,999,243 (GRCm39)	F295I	probably benign	Het
Vmn2r101	T	A	17: 19,809,245 (GRCm39)	W125R	probably damaging	Het
Vps8	C	A	16: 21,261,107 (GRCm39)	F82L	probably damaging	Het
Ythdf2	A	T	4: 131,931,779 (GRCm39)	S460R	probably damaging	Het

Other mutations in Lrrc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Lrrc9	APN	12	72,533,017 (GRCm39)	missense	possibly damaging	0.63
IGL00843:Lrrc9	APN	12	72,510,191 (GRCm39)	missense	possibly damaging	0.78
IGL01923:Lrrc9	APN	12	72,557,186 (GRCm39)	missense	possibly damaging	0.93
IGL02027:Lrrc9	APN	12	72,517,108 (GRCm39)	splice site	probably benign
IGL02271:Lrrc9	APN	12	72,557,155 (GRCm39)	missense	probably benign	0.06
IGL02398:Lrrc9	APN	12	72,513,677 (GRCm39)	missense	probably benign
IGL02795:Lrrc9	APN	12	72,525,542 (GRCm39)	missense	probably damaging	1.00
IGL02931:Lrrc9	APN	12	72,500,923 (GRCm39)	missense	probably damaging	1.00
IGL03257:Lrrc9	APN	12	72,496,542 (GRCm39)	missense	probably benign
BB006:Lrrc9	UTSW	12	72,533,071 (GRCm39)	missense	possibly damaging	0.92
BB016:Lrrc9	UTSW	12	72,533,071 (GRCm39)	missense	possibly damaging	0.92
IGL02799:Lrrc9	UTSW	12	72,553,178 (GRCm39)	missense	probably damaging	1.00
R0172:Lrrc9	UTSW	12	72,510,260 (GRCm39)	missense	possibly damaging	0.50
R0315:Lrrc9	UTSW	12	72,502,802 (GRCm39)	missense	probably damaging	0.96
R0617:Lrrc9	UTSW	12	72,529,788 (GRCm39)	missense	probably damaging	1.00
R0639:Lrrc9	UTSW	12	72,533,062 (GRCm39)	missense	probably damaging	1.00
R0987:Lrrc9	UTSW	12	72,557,156 (GRCm39)	missense	probably benign	0.00
R1325:Lrrc9	UTSW	12	72,543,878 (GRCm39)	missense	probably damaging	0.99
R1465:Lrrc9	UTSW	12	72,547,533 (GRCm39)	missense	probably benign	0.05
R1465:Lrrc9	UTSW	12	72,547,533 (GRCm39)	missense	probably benign	0.05
R1479:Lrrc9	UTSW	12	72,507,599 (GRCm39)	nonsense	probably null
R1564:Lrrc9	UTSW	12	72,533,827 (GRCm39)	missense	probably damaging	1.00
R1626:Lrrc9	UTSW	12	72,542,435 (GRCm39)	splice site	probably null
R1632:Lrrc9	UTSW	12	72,506,794 (GRCm39)	splice site	probably null
R1715:Lrrc9	UTSW	12	72,524,073 (GRCm39)	missense	probably damaging	1.00
R1743:Lrrc9	UTSW	12	72,502,891 (GRCm39)	missense	probably damaging	1.00
R1779:Lrrc9	UTSW	12	72,502,772 (GRCm39)	nonsense	probably null
R1866:Lrrc9	UTSW	12	72,543,912 (GRCm39)	missense	probably damaging	0.97
R1878:Lrrc9	UTSW	12	72,522,938 (GRCm39)	critical splice donor site	probably null
R1990:Lrrc9	UTSW	12	72,544,635 (GRCm39)	missense	probably damaging	0.99
R2361:Lrrc9	UTSW	12	72,510,244 (GRCm39)	missense	possibly damaging	0.52
R3752:Lrrc9	UTSW	12	72,507,580 (GRCm39)	nonsense	probably null
R3833:Lrrc9	UTSW	12	72,529,765 (GRCm39)	missense	probably damaging	1.00
R4134:Lrrc9	UTSW	12	72,513,740 (GRCm39)	missense	probably benign	0.00
R4651:Lrrc9	UTSW	12	72,524,160 (GRCm39)	missense	probably damaging	1.00
R4652:Lrrc9	UTSW	12	72,524,160 (GRCm39)	missense	probably damaging	1.00
R4659:Lrrc9	UTSW	12	72,517,038 (GRCm39)	missense	probably damaging	1.00
R4831:Lrrc9	UTSW	12	72,546,453 (GRCm39)	missense	probably damaging	1.00
R4857:Lrrc9	UTSW	12	72,546,466 (GRCm39)	missense	possibly damaging	0.94
R5017:Lrrc9	UTSW	12	72,553,099 (GRCm39)	missense	possibly damaging	0.86
R5163:Lrrc9	UTSW	12	72,496,163 (GRCm39)	missense	probably damaging	1.00
R5279:Lrrc9	UTSW	12	72,542,368 (GRCm39)	missense	possibly damaging	0.80
R5434:Lrrc9	UTSW	12	72,500,862 (GRCm39)	missense	probably damaging	0.98
R5783:Lrrc9	UTSW	12	72,502,827 (GRCm39)	missense	possibly damaging	0.62
R6021:Lrrc9	UTSW	12	72,516,005 (GRCm39)	missense	probably damaging	0.97
R6214:Lrrc9	UTSW	12	72,506,627 (GRCm39)	missense	probably damaging	1.00
R6255:Lrrc9	UTSW	12	72,533,797 (GRCm39)	missense	probably benign	0.33
R6538:Lrrc9	UTSW	12	72,547,703 (GRCm39)	missense	probably benign	0.08
R6563:Lrrc9	UTSW	12	72,533,169 (GRCm39)	splice site	probably null
R6672:Lrrc9	UTSW	12	72,520,710 (GRCm39)	missense	possibly damaging	0.88
R6919:Lrrc9	UTSW	12	72,553,167 (GRCm39)	missense	probably benign	0.01
R6929:Lrrc9	UTSW	12	72,497,546 (GRCm39)	missense	probably benign	0.41
R7092:Lrrc9	UTSW	12	72,510,238 (GRCm39)	missense	possibly damaging	0.81
R7150:Lrrc9	UTSW	12	72,513,726 (GRCm39)	missense	probably benign	0.00
R7338:Lrrc9	UTSW	12	72,510,305 (GRCm39)	splice site	probably null
R7398:Lrrc9	UTSW	12	72,547,590 (GRCm39)	missense	probably damaging	0.98
R7477:Lrrc9	UTSW	12	72,550,301 (GRCm39)	critical splice donor site	probably null
R7501:Lrrc9	UTSW	12	72,496,490 (GRCm39)	missense	probably damaging	1.00
R7542:Lrrc9	UTSW	12	72,553,094 (GRCm39)	missense	probably damaging	0.96
R7816:Lrrc9	UTSW	12	72,542,466 (GRCm39)	missense	probably damaging	1.00
R7870:Lrrc9	UTSW	12	72,532,964 (GRCm39)	missense	probably damaging	0.99
R7929:Lrrc9	UTSW	12	72,533,071 (GRCm39)	missense	possibly damaging	0.92
R8042:Lrrc9	UTSW	12	72,507,680 (GRCm39)	missense	probably benign	0.02
R8108:Lrrc9	UTSW	12	72,500,833 (GRCm39)	missense	probably damaging	1.00
R8192:Lrrc9	UTSW	12	72,496,163 (GRCm39)	missense	probably damaging	1.00
R8244:Lrrc9	UTSW	12	72,546,384 (GRCm39)	missense	probably benign	0.22
R8333:Lrrc9	UTSW	12	72,528,317 (GRCm39)	missense	probably benign	0.38
R9288:Lrrc9	UTSW	12	72,522,858 (GRCm39)	missense	probably benign	0.01
R9324:Lrrc9	UTSW	12	72,496,171 (GRCm39)	missense	probably damaging	1.00
R9342:Lrrc9	UTSW	12	72,506,767 (GRCm39)	missense	probably damaging	1.00
R9557:Lrrc9	UTSW	12	72,532,981 (GRCm39)	missense	probably benign	0.01
R9624:Lrrc9	UTSW	12	72,497,586 (GRCm39)	missense	probably benign	0.19
R9677:Lrrc9	UTSW	12	72,497,539 (GRCm39)	missense	probably damaging	1.00
X0025:Lrrc9	UTSW	12	72,543,834 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrrc9	UTSW	12	72,524,167 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCTTGCATCCTGAAAATGGAAC -3'
(R):5'- ACCATGCAGCCTCTAGAAAGGACTC -3'

Sequencing Primer
(F):5'- AGAAGGAAGTGTTACTTTCCCG -3'
(R):5'- GGCCTGTTCCAAGATAGTCC -3'

Posted On

2013-05-23