Mutagenetix > Incidental Mutation

Incidental Mutation 'R7336:Lrrc49'

569506

Institutional Source

Beutler Lab

Gene Symbol

Lrrc49

Ensembl Gene

ENSMUSG00000047766

Gene Name

leucine rich repeat containing 49

Synonyms

D430025H09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R7336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60568859-60688158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60677191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 196 (I196N)

Ref Sequence

ENSEMBL: ENSMUSP00000070606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065603] [ENSMUST00000114032] [ENSMUST00000114034] [ENSMUST00000132366] [ENSMUST00000150060] [ENSMUST00000166168]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065603
AA Change: I196N

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: I196N

Domain	Start	End	E-Value	Type
LRR	199	221	2.84e1	SMART
LRR	243	264	1.49e1	SMART
LRR	265	286	1.37e2	SMART
LRR	287	308	1.62e1	SMART
LRR	309	332	6.77e0	SMART
low complexity region	378	394	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114032
AA Change: I124N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: I124N

Domain	Start	End	E-Value	Type
LRR	127	149	2.84e1	SMART
LRR	171	192	1.49e1	SMART
LRR	193	214	1.37e2	SMART
LRR	215	236	1.62e1	SMART
LRR	237	260	6.77e0	SMART
low complexity region	306	322	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114034
AA Change: I130N

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: I130N

Domain	Start	End	E-Value	Type
LRR	133	155	2.84e1	SMART
LRR	177	198	1.49e1	SMART
LRR	199	220	1.37e2	SMART
LRR	221	242	1.62e1	SMART
LRR	243	266	6.77e0	SMART
low complexity region	312	328	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132366

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150060
AA Change: I130N

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118205
Gene: ENSMUSG00000047766
AA Change: I130N

Domain	Start	End	E-Value	Type
LRR	133	155	2.84e1	SMART
LRR	177	198	1.49e1	SMART
LRR	199	220	1.37e2	SMART
LRR	221	242	1.62e1	SMART
LRR	243	266	6.77e0	SMART
low complexity region	312	328	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166168
AA Change: I190N

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: I190N

Domain	Start	End	E-Value	Type
LRR	193	215	2.84e1	SMART
LRR	237	258	1.49e1	SMART
LRR	259	280	1.37e2	SMART
LRR	281	302	1.62e1	SMART
LRR	303	326	6.77e0	SMART
low complexity region	372	388	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,388,233	Q1247H	possibly damaging	Het
Acsf2	G	C	11: 94,571,650	Q180E	probably benign	Het
Adamts8	A	G	9: 30,962,067	D856G	probably benign	Het
Agrn	A	T	4: 156,174,914	C828*	probably null	Het
Ankub1	T	C	3: 57,665,687	T205A	probably benign	Het
Atm	A	T	9: 53,462,503	Y2150N	possibly damaging	Het
Barhl1	A	G	2: 28,909,843	F257L	probably benign	Het
Bcat2	T	A	7: 45,575,485	C27S	probably benign	Het
Bod1l	G	A	5: 41,821,524	R816C	probably damaging	Het
Btg3	A	G	16: 78,364,807	Y172H	probably benign	Het
C130079G13Rik	G	A	3: 59,932,753		probably null	Het
Cacna1d	T	C	14: 30,045,282	D1940G	probably benign	Het
Catsperg2	T	A	7: 29,706,601	N624I	possibly damaging	Het
Ccdc146	A	G	5: 21,303,112	V646A	probably benign	Het
Ccp110	C	T	7: 118,722,210	P363S	probably damaging	Het
Cct4	C	A	11: 23,001,564	T377K	possibly damaging	Het
Cep350	T	A	1: 155,862,276	H2607L	probably benign	Het
Cfap46	A	G	7: 139,620,104	F1954L	unknown	Het
Chat	C	T	14: 32,423,256		probably null	Het
Clasp2	A	G	9: 113,876,353		probably null	Het
Cldn9	T	C	17: 23,683,015	D212G	probably benign	Het
Cp	G	A	3: 19,964,532		probably null	Het
Cyfip1	T	A	7: 55,926,400	I1108N	possibly damaging	Het
Dnah14	A	G	1: 181,797,734	D4060G	probably damaging	Het
Dpyd	A	G	3: 119,064,921	T595A	probably damaging	Het
Eps8	G	A	6: 137,509,213	R434C	possibly damaging	Het
Fasl	A	G	1: 161,787,988	Y100H	probably damaging	Het
Fkbp9	A	T	6: 56,849,727	N104I	probably damaging	Het
Frmd4a	A	G	2: 4,473,214	T65A	possibly damaging	Het
Gm1110	T	C	9: 26,914,357	N102S	probably damaging	Het
Gm2381	T	C	7: 42,822,380	Q25R	possibly damaging	Het
Gtpbp2	A	G	17: 46,161,313	Y58C	probably damaging	Het
H2-T3	C	A	17: 36,187,345	K269N	probably damaging	Het
Icosl	C	A	10: 78,073,873	Y217*	probably null	Het
Il17rd	G	T	14: 27,087,546	R153L	probably benign	Het
Kif17	C	A	4: 138,298,306	T973K	possibly damaging	Het
Klk1b16	A	G	7: 44,141,483	I236M	probably benign	Het
Lgmn	G	A	12: 102,423,739		probably benign	Het
Lmbr1l	T	C	15: 98,913,587	D54G	possibly damaging	Het
Maml1	C	T	11: 50,266,449	A300T	possibly damaging	Het
Mapkap1	A	T	2: 34,533,817	Q293L	possibly damaging	Het
Mki67	T	C	7: 135,713,839	T69A	probably benign	Het
Mlph	G	A	1: 90,921,983		probably null	Het
Myh1	A	T	11: 67,220,609	M1625L	probably benign	Het
Myh3	G	T	11: 67,091,021	R781L	probably benign	Het
Nckap5	A	T	1: 126,026,049	I922K	probably benign	Het
Nlrp5	T	A	7: 23,417,634	M261K	probably damaging	Het
Olfr1317	A	T	2: 112,142,169	S75C	possibly damaging	Het
Olfr312	T	A	11: 58,831,924	Y257N	probably damaging	Het
Olfr396-ps1	G	A	11: 73,928,837	M204I	probably benign	Het
Olfr965	A	G	9: 39,719,610	N128D	probably benign	Het
Pak1	T	A	7: 97,888,972	V262E	probably benign	Het
Pigw	A	T	11: 84,877,104	D466E	probably damaging	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Rbm15	A	C	3: 107,333,116		probably benign	Het
Rfx1	A	G	8: 84,073,756		probably benign	Het
Rfx7	A	G	9: 72,593,357	Y133C	probably damaging	Het
Serpinb9d	T	A	13: 33,200,719	D226E	probably benign	Het
Sgk3	G	A	1: 9,884,476	A271T	possibly damaging	Het
Sh2d5	T	A	4: 138,256,839	C173S	probably benign	Het
Skint8	T	C	4: 111,939,572	V291A	probably benign	Het
Slc22a27	T	A	19: 7,926,689	N28Y	probably benign	Het
Slc25a54	G	A	3: 109,116,435	V449I	probably benign	Het
Slc39a9	T	C	12: 80,679,542	F255S	probably damaging	Het
Spata31d1c	C	T	13: 65,036,128	H495Y	probably damaging	Het
Stab2	G	A	10: 86,969,185	Q310*	probably null	Het
Supt16	C	A	14: 52,171,491	A809S	possibly damaging	Het
Tenm3	A	T	8: 48,236,177	M2125K	possibly damaging	Het
Tex2	G	A	11: 106,548,859	T565M	unknown	Het
Tll1	G	A	8: 64,025,142	A859V	probably damaging	Het
Tmem106c	C	T	15: 97,969,631	T232I	possibly damaging	Het
Tmem2	C	A	19: 21,826,145	Y847*	probably null	Het
Trim65	T	G	11: 116,128,290	D141A	probably benign	Het
Trim80	T	C	11: 115,441,216	F78S	probably damaging	Het
Txnrd1	T	A	10: 82,873,217	I83N	probably benign	Het
Vnn3	G	A	10: 23,851,908	G72D	probably benign	Het
Wasl	G	T	6: 24,619,687	P278Q	unknown	Het
Wdr62	A	T	7: 30,243,917	L951Q	probably damaging	Het
Zfp760	C	T	17: 21,723,833	T663I	unknown	Het

Other mutations in Lrrc49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Lrrc49	APN	9	60601320	missense	probably damaging	1.00
IGL00468:Lrrc49	APN	9	60687868	unclassified	probably benign
IGL00792:Lrrc49	APN	9	60687838	missense	probably damaging	0.97
IGL02252:Lrrc49	APN	9	60687859	start codon destroyed	probably benign	0.04
IGL02830:Lrrc49	APN	9	60685110	missense	probably damaging	1.00
IGL03103:Lrrc49	APN	9	60685033	critical splice donor site	probably null
IGL03223:Lrrc49	APN	9	60687845	missense	possibly damaging	0.72
IGL03244:Lrrc49	APN	9	60587857	missense	probably damaging	1.00
IGL03392:Lrrc49	APN	9	60666280	splice site	probably benign
IGL02837:Lrrc49	UTSW	9	60610322	missense	probably benign	0.00
R0164:Lrrc49	UTSW	9	60680600	missense	probably benign	0.26
R0164:Lrrc49	UTSW	9	60680600	missense	probably benign	0.26
R0335:Lrrc49	UTSW	9	60677095	missense	probably damaging	0.99
R0399:Lrrc49	UTSW	9	60610246	splice site	probably benign
R0607:Lrrc49	UTSW	9	60666357	missense	probably benign	0.35
R1396:Lrrc49	UTSW	9	60680527	missense	probably damaging	0.99
R1731:Lrrc49	UTSW	9	60621631	missense	probably damaging	1.00
R1800:Lrrc49	UTSW	9	60598191	missense	probably damaging	1.00
R1817:Lrrc49	UTSW	9	60602776	missense	possibly damaging	0.94
R1876:Lrrc49	UTSW	9	60587777	missense	possibly damaging	0.77
R1925:Lrrc49	UTSW	9	60649490	missense	probably benign	0.07
R2172:Lrrc49	UTSW	9	60602682	missense	probably benign	0.25
R2233:Lrrc49	UTSW	9	60598157	missense	possibly damaging	0.57
R2235:Lrrc49	UTSW	9	60598157	missense	possibly damaging	0.57
R2927:Lrrc49	UTSW	9	60593746	nonsense	probably null
R3955:Lrrc49	UTSW	9	60671359	missense	probably damaging	1.00
R4214:Lrrc49	UTSW	9	60666326	missense	probably benign	0.33
R4772:Lrrc49	UTSW	9	60685052	missense	possibly damaging	0.93
R5283:Lrrc49	UTSW	9	60687178	missense	probably benign	0.06
R5801:Lrrc49	UTSW	9	60602633	missense	probably damaging	1.00
R6115:Lrrc49	UTSW	9	60615161	missense	possibly damaging	0.61
R6488:Lrrc49	UTSW	9	60602633	missense	probably damaging	1.00
R6525:Lrrc49	UTSW	9	60598149	missense	probably damaging	1.00
R6540:Lrrc49	UTSW	9	60685052	missense	possibly damaging	0.93
R6550:Lrrc49	UTSW	9	60677147	missense	probably benign	0.13
R6603:Lrrc49	UTSW	9	60593769	splice site	probably null
R6878:Lrrc49	UTSW	9	60680148	missense	probably damaging	0.99
R7144:Lrrc49	UTSW	9	60615156	missense	probably damaging	0.99
R7541:Lrrc49	UTSW	9	60610403	missense	probably damaging	1.00
R7608:Lrrc49	UTSW	9	60602722	missense	probably null	1.00
R7739:Lrrc49	UTSW	9	60593692	missense	probably benign
R8097:Lrrc49	UTSW	9	60615048	missense	probably benign
R8220:Lrrc49	UTSW	9	60610330	missense	probably benign
R8442:Lrrc49	UTSW	9	60593625	missense	probably benign	0.01
R8458:Lrrc49	UTSW	9	60598173	missense	probably benign	0.00
R8692:Lrrc49	UTSW	9	60687162	missense	probably damaging	0.97
R9036:Lrrc49	UTSW	9	60587867	missense	probably benign	0.17
R9126:Lrrc49	UTSW	9	60671311	missense	probably damaging	1.00
R9339:Lrrc49	UTSW	9	60602748	missense	probably benign	0.04
R9456:Lrrc49	UTSW	9	60687416	missense	probably benign	0.01
R9661:Lrrc49	UTSW	9	60666299	missense	probably damaging	1.00
Z1176:Lrrc49	UTSW	9	60677221	missense	probably damaging	0.99
Z1177:Lrrc49	UTSW	9	60598093	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GGATTCTATGAGGCTACAGGC -3'
(R):5'- CCAAGCCTGGATGCACTTAC -3'

Sequencing Primer
(F):5'- TCAGTGAGAGACTTGCTTCAAG -3'
(R):5'- GCCTGGATGCACTTACTACTTAACAG -3'

Posted On

2019-09-13