Mutagenetix > Incidental Mutation

Incidental Mutation 'R5163:Lrrc9'

397117

Institutional Source

Beutler Lab

Gene Symbol

Lrrc9

Ensembl Gene

ENSMUSG00000021090

Gene Name

leucine rich repeat containing 9

Synonyms

4921529O18Rik, 4930432K16Rik

Accession Numbers

Essential gene?

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

Stock #

R5163 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72481391-72561269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72496163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 13 (I13F)

Ref Sequence

ENSEMBL: ENSMUSP00000124394 (fasta)

Gene Model

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

AlphaFold

Q8CDN9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161195

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161284
AA Change: I13F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: I13F

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: ENSMUST00000161957

Predicted Effect

probably damaging
Transcript: ENSMUST00000162159
AA Change: I13F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: I13F

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: ENSMUST00000162179

Predicted Effect

probably damaging
Transcript: ENSMUST00000221360
AA Change: I13F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Btbd19	T	G	4: 116,978,628 (GRCm39)	I152L	probably damaging	Het
Dnaaf11	T	C	15: 66,314,067 (GRCm39)	D311G	probably benign	Het
Dync2i1	C	T	12: 116,219,486 (GRCm39)	R152H	possibly damaging	Het
Ercc6l2	A	G	13: 64,046,845 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,034,946 (GRCm39)	D2866G	probably damaging	Het
Fkbp10	C	T	11: 100,313,925 (GRCm39)	A311V	probably benign	Het
Fnbp1l	T	C	3: 122,338,312 (GRCm39)	N511S	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gltp	A	G	5: 114,812,122 (GRCm39)	I147T	probably benign	Het
Gpr37	A	T	6: 25,669,614 (GRCm39)	I410N	possibly damaging	Het
Hivep2	G	A	10: 14,015,169 (GRCm39)	G1779R	probably damaging	Het
Ifna14	T	C	4: 88,489,599 (GRCm39)	Y146C	probably damaging	Het
Loxhd1	A	G	18: 77,449,432 (GRCm39)	D662G	possibly damaging	Het
Map2k3	T	A	11: 60,834,317 (GRCm39)	I95N	probably damaging	Het
Mark1	A	G	1: 184,637,807 (GRCm39)	I594T	probably damaging	Het
Mettl14	T	C	3: 123,168,474 (GRCm39)	I189V	possibly damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Odf4	C	A	11: 68,813,672 (GRCm39)	C133F	probably damaging	Het
Opa1	A	T	16: 29,416,438 (GRCm39)	Q106L	probably damaging	Het
Or10d5j	T	C	9: 39,868,216 (GRCm39)	N5S	probably damaging	Het
Pax4	T	G	6: 28,446,269 (GRCm39)	S75R	probably damaging	Het
Ppfibp1	T	A	6: 146,923,629 (GRCm39)		probably null	Het
Ptpn20	T	C	14: 33,353,068 (GRCm39)	I269T	probably benign	Het
Ptprq	T	C	10: 107,360,192 (GRCm39)	Q2161R	probably damaging	Het
Rab22a	A	G	2: 173,503,280 (GRCm39)	D31G	probably damaging	Het
Rap1gds1	A	T	3: 138,664,817 (GRCm39)	M296K	probably damaging	Het
Rfx1	A	G	8: 84,819,840 (GRCm39)	T692A	probably damaging	Het
Sf3b2	A	G	19: 5,325,165 (GRCm39)	V769A	probably damaging	Het
Skint5	A	T	4: 113,652,762 (GRCm39)	F621I	unknown	Het
Spink5	A	C	18: 44,132,924 (GRCm39)	R513S	possibly damaging	Het
Srrm2	C	T	17: 24,038,524 (GRCm39)		probably benign	Het
Srrt	A	G	5: 137,295,035 (GRCm39)		probably null	Het
Sun3	T	C	11: 8,973,295 (GRCm39)	Q134R	possibly damaging	Het
Tpo	A	G	12: 30,155,979 (GRCm39)	V174A	probably benign	Het
Ucp1	A	G	8: 84,020,832 (GRCm39)	R183G	possibly damaging	Het
Vmn2r66	A	G	7: 84,656,017 (GRCm39)	V333A	probably benign	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp936	A	G	7: 42,839,664 (GRCm39)	Q377R	probably damaging	Het
Zkscan2	T	C	7: 123,099,090 (GRCm39)	E34G	probably benign	Het
Zup1	T	A	10: 33,825,439 (GRCm39)	E14D	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
R0492:Lrrc9	UTSW	12	72,525,537 (GRCm39)	missense	possibly damaging	0.47
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
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'- GCCTGTCAATGCCACTGTTG -3'
(R):5'- CCATTGCACAGACACTGTTTG -3'

Sequencing Primer
(F):5'- CCACTGTTGCTAGCACGTTAAGG -3'
(R):5'- CCATTGCACAGACACTGTTTGAAAAG -3'

Posted On

2016-06-21