Mutagenetix > Incidental Mutation

Incidental Mutation 'R6214:Lrrc9'

503630

Institutional Source

Beutler Lab

Gene Symbol

Lrrc9

Ensembl Gene

ENSMUSG00000021090

Gene Name

leucine rich repeat containing 9

Synonyms

4921529O18Rik, 4930432K16Rik

MMRRC Submission

044347-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R6214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72481391-72561269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72506627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 301 (E301D)

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 benign
Transcript: ENSMUST00000161284
AA Change: E301D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: E301D

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: E301D

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

SMART Domains

Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: E301D

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: E301D

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

Meta Mutation Damage Score

0.2187

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap3	A	C	4: 135,968,736 (GRCm39)	D727A	possibly damaging	Het
Aste1	A	G	9: 105,274,056 (GRCm39)	K38E	probably damaging	Het
Atp13a5	T	C	16: 29,070,159 (GRCm39)	Y909C	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cd79b	C	A	11: 106,203,267 (GRCm39)		probably null	Het
Chia1	T	C	3: 106,029,761 (GRCm39)	F132L	probably damaging	Het
Cntrl	A	G	2: 35,019,646 (GRCm39)	E491G	probably benign	Het
Ctdnep1	T	C	11: 69,880,334 (GRCm39)	F206L	probably damaging	Het
Dido1	T	C	2: 180,303,945 (GRCm39)	K1320E	probably damaging	Het
Dmbt1	G	T	7: 130,668,463 (GRCm39)	C573F	possibly damaging	Het
Dmtn	A	G	14: 70,850,776 (GRCm39)	I205T	probably benign	Het
Eif4g3	C	T	4: 137,785,314 (GRCm39)	H137Y	probably damaging	Het
Flg2	G	T	3: 93,109,166 (GRCm39)	C398F	possibly damaging	Het
Gabbr1	A	G	17: 37,380,257 (GRCm39)	D604G	probably damaging	Het
Glis2	T	A	16: 4,428,197 (GRCm39)	L83*	probably null	Het
Glra3	A	G	8: 56,444,291 (GRCm39)		probably null	Het
Hipk3	T	C	2: 104,264,086 (GRCm39)	D804G	probably damaging	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Ms4a6c	T	C	19: 11,448,500 (GRCm39)	I11T	possibly damaging	Het
Myo1d	A	T	11: 80,670,617 (GRCm39)	M1K	probably null	Het
Nav3	A	G	10: 109,688,426 (GRCm39)	L617P	probably damaging	Het
Or8b3b	A	G	9: 38,584,510 (GRCm39)	S90P	probably benign	Het
Pcsk7	A	C	9: 45,821,674 (GRCm39)	N156T	possibly damaging	Het
Pde4d	C	T	13: 110,085,967 (GRCm39)	S515L	probably damaging	Het
Pira13	A	G	7: 3,824,717 (GRCm39)	I554T	probably damaging	Het
Prom2	A	G	2: 127,381,695 (GRCm39)		probably null	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Scn3a	T	C	2: 65,325,380 (GRCm39)	I1046V	probably benign	Het
Slc13a1	A	T	6: 24,090,795 (GRCm39)	Y541*	probably null	Het
Speer1d	C	T	5: 11,307,197 (GRCm39)	T25I	probably damaging	Het
Spen	C	T	4: 141,206,423 (GRCm39)	E735K	unknown	Het
Tm6sf2	T	C	8: 70,525,724 (GRCm39)	V27A	possibly damaging	Het
Trim21	A	G	7: 102,208,646 (GRCm39)	S358P	probably damaging	Het
Ttc21a	A	G	9: 119,795,838 (GRCm39)	Y1224C	probably damaging	Het
Ttn	T	A	2: 76,710,552 (GRCm39)		probably benign	Het
Vmn2r99	A	G	17: 19,602,820 (GRCm39)	Q525R	probably benign	Het
Vsig10	G	A	5: 117,481,989 (GRCm39)	C393Y	probably damaging	Het
Ywhag	A	G	5: 135,939,928 (GRCm39)	I222T	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
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
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'- TGAAGAGACGGCCATGCTTG -3'
(R):5'- AGTTCGGCAAACATACTCATGC -3'

Sequencing Primer
(F):5'- GCTGAATTTGCACCAAGGTC -3'
(R):5'- TCGGCAAACATACTCATGCAGTTTC -3'

Posted On

2018-02-27