Mutagenetix > Incidental Mutation

Incidental Mutation 'R1878:Lrrc9'

211334

Institutional Source

Beutler Lab

Gene Symbol

Lrrc9

Ensembl Gene

ENSMUSG00000021090

Gene Name

leucine rich repeat containing 9

Synonyms

4930432K16Rik, 4921529O18Rik

MMRRC Submission

039899-MU

Accession Numbers

Essential gene?

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

Stock #

R1878 (G1)

Quality Score

128

Status

Not validated

Chromosome

Chromosomal Location

72441866-72530750 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 72476164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 null
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

noncoding transcript
Transcript: ENSMUST00000161547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161957

Predicted Effect

probably null
Transcript: ENSMUST00000162159

SMART Domains

Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090

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

probably benign
Transcript: ENSMUST00000221360

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,514,638		probably null	Het
Abcb9	A	G	5: 124,090,136	V14A	probably benign	Het
Adcy4	T	C	14: 55,769,905	D950G	probably damaging	Het
Ahctf1	T	C	1: 179,775,509	D828G	possibly damaging	Het
Ak2	T	A	4: 129,002,167	V79D	probably damaging	Het
Arhgap29	T	C	3: 122,011,371	Y870H	probably damaging	Het
Arid4a	A	G	12: 71,087,589	K1222E	probably damaging	Het
Armc1	A	T	3: 19,157,544	D37E	probably damaging	Het
Cenpm	A	T	15: 82,234,415	M166K	probably benign	Het
Cep97	G	T	16: 55,905,226	P766Q	probably damaging	Het
Col19a1	G	T	1: 24,317,395	D672E	probably benign	Het
Col6a2	T	C	10: 76,614,788	D103G	probably benign	Het
Ddi2	T	C	4: 141,684,149	E484G	probably benign	Het
Dph1	T	C	11: 75,184,227	D100G	probably damaging	Het
Dsp	A	T	13: 38,164,855	I100F	possibly damaging	Het
Fam222b	T	C	11: 78,143,216		probably null	Het
Folh1	A	T	7: 86,771,742	H126Q	probably benign	Het
Gapvd1	A	T	2: 34,725,200	D428E	probably benign	Het
Gm11564	A	T	11: 99,815,440	C55S	unknown	Het
Gm14139	T	A	2: 150,193,069	C437S	probably damaging	Het
Gne	T	C	4: 44,040,434	I577V	probably damaging	Het
Gpr4	A	G	7: 19,223,124	T324A	probably damaging	Het
Hhipl1	A	T	12: 108,320,060	N542I	possibly damaging	Het
Ice2	T	C	9: 69,428,576		probably null	Het
Irgm1	C	T	11: 48,866,070	V305I	probably benign	Het
Itgal	C	A	7: 127,310,671	Q73K	probably benign	Het
Jcad	C	A	18: 4,673,857	H540N	possibly damaging	Het
Jkamp	T	A	12: 72,094,104	V141D	possibly damaging	Het
Mcc	T	C	18: 44,468,400	R621G	possibly damaging	Het
Myd88	T	A	9: 119,338,620	Q140L	probably benign	Het
Mylk3	A	T	8: 85,355,399	N323K	possibly damaging	Het
Myrip	C	T	9: 120,424,655	R265W	probably damaging	Het
N4bp1	A	T	8: 86,861,541	S256R	probably damaging	Het
Nhsl1	T	G	10: 18,524,279	S418A	probably damaging	Het
Nlrp9b	A	G	7: 20,028,564	T269A	probably benign	Het
Nmt1	A	G	11: 103,052,251	N144S	probably benign	Het
Npvf	G	A	6: 50,654,323	T24I	probably benign	Het
Obscn	T	G	11: 58,995,553	Y2347S	probably damaging	Het
Olfr1202	A	G	2: 88,817,461	T97A	probably benign	Het
Olfr125	T	C	17: 37,835,362	V121A	probably benign	Het
Olfr135	T	C	17: 38,208,374	I43T	probably benign	Het
Olfr170	G	T	16: 19,605,751	Q306K	probably benign	Het
Olfr345	G	T	2: 36,640,189	R50M	possibly damaging	Het
Olfr624	A	C	7: 103,670,182	M283R	probably damaging	Het
Olfr8	T	A	10: 78,955,805	M200K	possibly damaging	Het
Olfr975	T	A	9: 39,950,757	T5S	probably benign	Het
Osgin2	A	T	4: 16,005,493	V131D	probably damaging	Het
Pcdhac2	A	T	18: 37,145,162	K398N	possibly damaging	Het
Pcnp	A	T	16: 56,018,487	M143K	probably damaging	Het
Ppp3ca	A	G	3: 136,797,878	I71V	probably benign	Het
Ppp4c	G	T	7: 126,787,607	R103S	probably damaging	Het
Prl2c2	T	A	13: 13,005,326	M1L	probably damaging	Het
Recql5	A	T	11: 115,895,101	D615E	probably benign	Het
Robo3	T	C	9: 37,422,165	E728G	probably damaging	Het
Rps27l	T	A	9: 66,947,629		probably null	Het
Scube3	T	A	17: 28,152,413	V34E	probably benign	Het
Sez6l	A	G	5: 112,475,223	I154T	probably damaging	Het
Sgsm1	G	A	5: 113,263,515	L782F	probably damaging	Het
Slc35c1	A	G	2: 92,459,053	V36A	probably benign	Het
Snapc4	A	G	2: 26,376,153		probably null	Het
Sohlh2	C	A	3: 55,207,643	R350S	probably damaging	Het
Spag1	G	A	15: 36,181,770	E25K	probably damaging	Het
Sspo	G	A	6: 48,459,366	A1217T	possibly damaging	Het
Stil	T	C	4: 115,041,226	S1018P	probably damaging	Het
Strn	T	C	17: 78,677,326	E117G	possibly damaging	Het
Syt17	A	T	7: 118,434,245	M180K	probably benign	Het
Trem1	T	C	17: 48,241,488	S18P	possibly damaging	Het
Tsta3	A	G	15: 75,925,369	S306P	probably benign	Het
Umad1	T	A	6: 8,427,181	F145I	probably damaging	Het
Unc80	A	C	1: 66,509,402	H611P	probably damaging	Het
Zfp709	A	G	8: 71,890,047	E440G	probably damaging	Het
Zfp764	C	A	7: 127,405,042	A306S	probably benign	Het
Zfp949	T	A	9: 88,569,303	S309T	probably damaging	Het
Zswim4	T	C	8: 84,212,776	N826D	possibly damaging	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
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
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'- ATGTTGGCTACTAACGCCTACAC -3'
(R):5'- GCCTTGTAAGCACACTCTCC -3'

Sequencing Primer
(F):5'- GCTACTAACGCCTACACCATGTC -3'
(R):5'- GTAAGGCCTTCTAACTGACACAGTG -3'

Posted On

2014-06-30