Mutagenetix > Incidental Mutations

Incidental Mutation 'R2233:Lrrc49'

240185

Institutional Source

Beutler Lab

Gene Symbol

Lrrc49

Ensembl Gene

ENSMUSG00000047766

Gene Name

leucine rich repeat containing 49

Synonyms

D430025H09Rik

MMRRC Submission

040234-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R2233 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60568859-60688158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60598157 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 538 (F538L)

Ref Sequence

ENSEMBL: ENSMUSP00000109666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053171] [ENSMUST00000065603] [ENSMUST00000114032] [ENSMUST00000114034] [ENSMUST00000150060] [ENSMUST00000166168]

Predicted Effect

probably benign
Transcript: ENSMUST00000053171
AA Change: F250L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000057014
Gene: ENSMUSG00000047766
AA Change: F250L

Domain	Start	End	E-Value	Type
low complexity region	18	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065603
AA Change: F610L

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: F610L

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

possibly damaging
Transcript: ENSMUST00000114032
AA Change: F538L

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: F538L

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

probably benign
Transcript: ENSMUST00000114034
AA Change: F544L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: F544L

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

noncoding transcript
Transcript: ENSMUST00000136388

Predicted Effect

probably benign
Transcript: ENSMUST00000150060

SMART Domains

Protein: ENSMUSP00000118205
Gene: ENSMUSG00000047766

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: ENSMUST00000166168
AA Change: F604L

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: F604L

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,545,512	I360V	probably benign	Het
Adarb1	A	G	10: 77,317,349	V322A	probably damaging	Het
Atad2b	T	G	12: 5,006,745	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,869,916	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,451,525	I1214V	probably benign	Het
Chrm4	A	G	2: 91,928,530	S428G	probably benign	Het
Chrnb1	A	T	11: 69,795,602	I64N	probably damaging	Het
Crh	A	T	3: 19,693,932	M182K	probably damaging	Het
Dazap1	A	G	10: 80,277,599	K110E	possibly damaging	Het
Dhx16	T	C	17: 35,887,886	C737R	probably damaging	Het
Dst	A	G	1: 34,274,262	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,249,420	Q419*	probably null	Het
E2f4	T	A	8: 105,298,651	V121E	probably damaging	Het
Enah	G	A	1: 181,921,972	P415L	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,003	T388A	probably damaging	Het
Gimap6	T	A	6: 48,704,484	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,562,146		probably benign	Het
Gm12695	C	T	4: 96,724,029	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,608,511	D385G	probably damaging	Het
Hyou1	C	T	9: 44,389,091	T855M	probably benign	Het
Igf1r	T	A	7: 68,212,080	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,480,638	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,319,467	V189D	probably damaging	Het
Kifap3	T	A	1: 163,856,065	D438E	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lrrc41	G	A	4: 116,096,385	R756Q	possibly damaging	Het
Nphp3	G	A	9: 104,037,376	R1052H	probably benign	Het
Nynrin	G	A	14: 55,872,067	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1154	G	A	2: 87,903,475	S67F	probably damaging	Het
Olfr1346	T	C	7: 6,474,442	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,586,769	F577L	probably damaging	Het
Otc	A	G	X: 10,303,367	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,198,919	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,642,419		probably null	Het
Prss16	T	C	13: 22,009,409	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,896,096	K33E	probably benign	Het
Rabepk	A	T	2: 34,795,234	I58N	possibly damaging	Het
Ralgapa1	A	T	12: 55,717,071	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 75,872,365	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,090,926	H68Y	probably benign	Het
Scap	T	C	9: 110,381,593	C998R	probably damaging	Het
Scgb1b27	T	C	7: 34,021,824	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,244,165	Y502C	probably damaging	Het
Sf3a2	G	T	10: 80,802,829	A95S	probably benign	Het
Sis	A	T	3: 72,913,194	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,835,661	C9S	possibly damaging	Het
Snap91	T	C	9: 86,798,571	T427A	probably benign	Het
St3gal6	A	G	16: 58,473,534	F211L	probably damaging	Het
Stab1	G	A	14: 31,161,880	S240F	probably benign	Het
Sun3	T	A	11: 9,023,371	K109*	probably null	Het
Syne1	T	C	10: 5,041,484	N8410S	probably benign	Het
Tbx18	G	T	9: 87,724,350	S247R	probably damaging	Het
Tenm3	T	C	8: 48,276,169	I1601V	probably benign	Het
Tmem135	T	C	7: 89,154,074	N297S	probably damaging	Het
Tnk1	C	T	11: 69,855,191		probably null	Het
Txnl4b	A	G	8: 109,568,919		probably benign	Het
Uck1	T	C	2: 32,258,303	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,049,665	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,669,996	V239M	possibly damaging	Het
Zmpste24	T	C	4: 121,097,965	D12G	probably benign	Het
Zscan25	A	G	5: 145,283,692	Y99C	probably damaging	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
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
R7336:Lrrc49	UTSW	9	60677191	missense	possibly damaging	0.92
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
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'- GAGAACACCGACTTTGTCTTAGTC -3'
(R):5'- CTTCCACAGCCTTGGGAAATG -3'

Sequencing Primer
(F):5'- TTCTAAGTCTGAACATGGCCAGC -3'
(R):5'- CACAGCCTTGGGAAATGTACTTTTC -3'

Posted On

2014-10-15