Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:Lrrc49'

26203

Institutional Source

Beutler Lab

Gene Symbol

Lrrc49

Ensembl Gene

ENSMUSG00000047766

Gene Name

leucine rich repeat containing 49

Synonyms

D430025H09Rik

MMRRC Submission

038544-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60494507-60595460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60584378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 156 (L156Q)

Ref Sequence

ENSEMBL: ENSMUSP00000109666 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000065603
AA Change: L228Q

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: L228Q

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: L156Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: L156Q

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 damaging
Transcript: ENSMUST00000114034
AA Change: L162Q

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: L162Q

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: ENSMUST00000128877

Predicted Effect

probably benign
Transcript: ENSMUST00000132366

Predicted Effect

probably benign
Transcript: ENSMUST00000150060
AA Change: L162Q

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118205
Gene: ENSMUSG00000047766
AA Change: L162Q

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 damaging
Transcript: ENSMUST00000166168
AA Change: L222Q

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: L222Q

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

Meta Mutation Damage Score

0.2196

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	G	T	15: 11,311,144 (GRCm39)	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,225,259 (GRCm39)	T460A	probably benign	Het
Amer3	A	C	1: 34,618,381 (GRCm39)		probably benign	Het
Arhgap22	C	T	14: 33,081,065 (GRCm39)		probably benign	Het
Arhgap32	T	G	9: 32,171,056 (GRCm39)	S1279A	probably benign	Het
Bcas1	G	A	2: 170,260,601 (GRCm39)	T26M	probably damaging	Het
Begain	A	T	12: 109,004,860 (GRCm39)	F256I	probably damaging	Het
Bltp1	T	C	3: 37,023,301 (GRCm39)	V2210A	probably damaging	Het
Cabin1	A	T	10: 75,492,883 (GRCm39)	I1804N	probably damaging	Het
Cad	G	A	5: 31,231,329 (GRCm39)		probably benign	Het
Carmil1	G	A	13: 24,257,966 (GRCm39)	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,420,706 (GRCm39)	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,635 (GRCm39)		probably null	Het
Cep15	A	G	14: 12,301,266 (GRCm38)	E124G	possibly damaging	Het
Clip2	T	A	5: 134,564,069 (GRCm39)		probably benign	Het
Cmip	T	C	8: 118,172,105 (GRCm39)	I480T	probably damaging	Het
Cnot1	A	T	8: 96,498,628 (GRCm39)	I203K	probably benign	Het
Col18a1	G	A	10: 76,895,197 (GRCm39)	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,364,503 (GRCm39)	L2373Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,071,860 (GRCm39)	I935F	probably damaging	Het
Dapl1	T	A	2: 59,326,938 (GRCm39)	D61E	possibly damaging	Het
Def6	A	G	17: 28,447,043 (GRCm39)	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,046,382 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,891,861 (GRCm39)		probably benign	Het
Ecd	A	C	14: 20,370,802 (GRCm39)	V639G	probably benign	Het
Epg5	C	T	18: 78,029,687 (GRCm39)	T1350M	probably benign	Het
Erbb4	C	A	1: 68,298,418 (GRCm39)	M657I	probably benign	Het
Evi5	T	C	5: 107,960,277 (GRCm39)	R431G	probably benign	Het
Fbxo11	G	A	17: 88,323,041 (GRCm39)	A115V	possibly damaging	Het
Fgfr2	T	C	7: 129,797,979 (GRCm39)	T192A	probably benign	Het
Gas7	C	T	11: 67,552,878 (GRCm39)	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048 (GRCm39)	Q41H	probably null	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm7535	A	G	17: 18,131,374 (GRCm39)		probably benign	Het
Gstm1	T	A	3: 107,920,012 (GRCm39)	N193I	possibly damaging	Het
Heatr5b	G	A	17: 79,135,375 (GRCm39)	P252L	probably benign	Het
Hmgb1	A	G	5: 148,987,441 (GRCm39)	V36A	probably benign	Het
Hrh1	G	T	6: 114,457,193 (GRCm39)	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,370,294 (GRCm39)	M53V	probably benign	Het
Iqgap2	T	A	13: 95,772,141 (GRCm39)	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,895,166 (GRCm39)	N433K	possibly damaging	Het
Kif1a	T	A	1: 92,980,288 (GRCm39)		probably benign	Het
Lctl	C	A	9: 64,026,169 (GRCm39)	Q75K	probably benign	Het
Ldb3	T	A	14: 34,300,608 (GRCm39)	I89F	possibly damaging	Het
Mark2	G	T	19: 7,259,193 (GRCm39)	T83K	probably benign	Het
Ms4a15	A	T	19: 10,957,574 (GRCm39)	D170E	probably damaging	Het
Msantd2	A	G	9: 37,434,056 (GRCm39)	S99G	possibly damaging	Het
Nemf	G	T	12: 69,400,577 (GRCm39)	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,093,561 (GRCm39)	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,962,116 (GRCm39)	I567V	probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or11l3	T	C	11: 58,516,566 (GRCm39)	Y102C	probably damaging	Het
Or13p8	A	G	4: 118,584,367 (GRCm39)	I308V	probably null	Het
Or5v1b	A	C	17: 37,841,533 (GRCm39)	I222L	probably benign	Het
Or7g16	T	A	9: 18,727,290 (GRCm39)	Q100L	probably damaging	Het
Pdk4	T	C	6: 5,491,138 (GRCm39)	E209G	probably benign	Het
Plch1	T	C	3: 63,618,399 (GRCm39)	Q712R	probably damaging	Het
Pnpla1	T	A	17: 29,105,852 (GRCm39)	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,596,457 (GRCm39)	D134V	probably damaging	Het
Ptov1	T	A	7: 44,514,046 (GRCm39)	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,544,589 (GRCm39)	I314V	probably benign	Het
Rabl2	T	C	15: 89,468,169 (GRCm39)	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507 (GRCm39)	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,512,435 (GRCm39)	W191R	probably damaging	Het
Sec22b	T	A	3: 97,828,572 (GRCm39)	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Septin2	T	C	1: 93,423,321 (GRCm39)	S51P	probably damaging	Het
Serpinb1a	T	C	13: 33,032,639 (GRCm39)	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,574,208 (GRCm39)	T206I	probably benign	Het
Slc25a19	C	A	11: 115,515,032 (GRCm39)	R42L	probably damaging	Het
St14	G	A	9: 31,002,620 (GRCm39)		probably benign	Het
Stxbp1	C	T	2: 32,692,917 (GRCm39)		probably benign	Het
Tas2r131	C	T	6: 132,934,792 (GRCm39)	V6I	probably benign	Het
Tdo2	T	A	3: 81,871,307 (GRCm39)	M235L	probably benign	Het
Tenm3	T	G	8: 48,685,140 (GRCm39)	H2432P	probably damaging	Het
Tmprss15	C	T	16: 78,821,630 (GRCm39)		probably benign	Het
Tmx1	A	G	12: 70,500,030 (GRCm39)	N30D	probably benign	Het
Tom1	A	G	8: 75,791,020 (GRCm39)		probably null	Het
Top2a	T	C	11: 98,913,781 (GRCm39)	N20S	probably benign	Het
Ttc23l	T	A	15: 10,540,049 (GRCm39)	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983 (GRCm39)	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,641 (GRCm39)	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,945,317 (GRCm39)		probably null	Het
Vps11	T	C	9: 44,265,135 (GRCm39)	Q641R	probably null	Het
Wapl	T	A	14: 34,414,281 (GRCm39)	I381N	probably damaging	Het
Zmym6	G	A	4: 127,016,601 (GRCm39)	G794E	probably damaging	Het

Other mutations in Lrrc49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Lrrc49	APN	9	60,508,603 (GRCm39)	missense	probably damaging	1.00
IGL00468:Lrrc49	APN	9	60,595,151 (GRCm39)	unclassified	probably benign
IGL00792:Lrrc49	APN	9	60,595,121 (GRCm39)	missense	probably damaging	0.97
IGL02252:Lrrc49	APN	9	60,595,142 (GRCm39)	start codon destroyed	probably benign	0.04
IGL02830:Lrrc49	APN	9	60,592,393 (GRCm39)	missense	probably damaging	1.00
IGL03103:Lrrc49	APN	9	60,592,316 (GRCm39)	critical splice donor site	probably null
IGL03223:Lrrc49	APN	9	60,595,128 (GRCm39)	missense	possibly damaging	0.72
IGL03244:Lrrc49	APN	9	60,495,140 (GRCm39)	missense	probably damaging	1.00
IGL03392:Lrrc49	APN	9	60,573,563 (GRCm39)	splice site	probably benign
IGL02837:Lrrc49	UTSW	9	60,517,605 (GRCm39)	missense	probably benign	0.00
R0164:Lrrc49	UTSW	9	60,587,883 (GRCm39)	missense	probably benign	0.26
R0164:Lrrc49	UTSW	9	60,587,883 (GRCm39)	missense	probably benign	0.26
R0399:Lrrc49	UTSW	9	60,517,529 (GRCm39)	splice site	probably benign
R0607:Lrrc49	UTSW	9	60,573,640 (GRCm39)	missense	probably benign	0.35
R1396:Lrrc49	UTSW	9	60,587,810 (GRCm39)	missense	probably damaging	0.99
R1731:Lrrc49	UTSW	9	60,528,914 (GRCm39)	missense	probably damaging	1.00
R1800:Lrrc49	UTSW	9	60,505,474 (GRCm39)	missense	probably damaging	1.00
R1817:Lrrc49	UTSW	9	60,510,059 (GRCm39)	missense	possibly damaging	0.94
R1876:Lrrc49	UTSW	9	60,495,060 (GRCm39)	missense	possibly damaging	0.77
R1925:Lrrc49	UTSW	9	60,556,773 (GRCm39)	missense	probably benign	0.07
R2172:Lrrc49	UTSW	9	60,509,965 (GRCm39)	missense	probably benign	0.25
R2233:Lrrc49	UTSW	9	60,505,440 (GRCm39)	missense	possibly damaging	0.57
R2235:Lrrc49	UTSW	9	60,505,440 (GRCm39)	missense	possibly damaging	0.57
R2927:Lrrc49	UTSW	9	60,501,029 (GRCm39)	nonsense	probably null
R3955:Lrrc49	UTSW	9	60,578,642 (GRCm39)	missense	probably damaging	1.00
R4214:Lrrc49	UTSW	9	60,573,609 (GRCm39)	missense	probably benign	0.33
R4772:Lrrc49	UTSW	9	60,592,335 (GRCm39)	missense	possibly damaging	0.93
R5283:Lrrc49	UTSW	9	60,594,461 (GRCm39)	missense	probably benign	0.06
R5801:Lrrc49	UTSW	9	60,509,916 (GRCm39)	missense	probably damaging	1.00
R6115:Lrrc49	UTSW	9	60,522,444 (GRCm39)	missense	possibly damaging	0.61
R6488:Lrrc49	UTSW	9	60,509,916 (GRCm39)	missense	probably damaging	1.00
R6525:Lrrc49	UTSW	9	60,505,432 (GRCm39)	missense	probably damaging	1.00
R6540:Lrrc49	UTSW	9	60,592,335 (GRCm39)	missense	possibly damaging	0.93
R6550:Lrrc49	UTSW	9	60,584,430 (GRCm39)	missense	probably benign	0.13
R6603:Lrrc49	UTSW	9	60,501,052 (GRCm39)	splice site	probably null
R6878:Lrrc49	UTSW	9	60,587,431 (GRCm39)	missense	probably damaging	0.99
R7144:Lrrc49	UTSW	9	60,522,439 (GRCm39)	missense	probably damaging	0.99
R7336:Lrrc49	UTSW	9	60,584,474 (GRCm39)	missense	possibly damaging	0.92
R7541:Lrrc49	UTSW	9	60,517,686 (GRCm39)	missense	probably damaging	1.00
R7608:Lrrc49	UTSW	9	60,510,005 (GRCm39)	missense	probably null	1.00
R7739:Lrrc49	UTSW	9	60,500,975 (GRCm39)	missense	probably benign
R8097:Lrrc49	UTSW	9	60,522,331 (GRCm39)	missense	probably benign
R8220:Lrrc49	UTSW	9	60,517,613 (GRCm39)	missense	probably benign
R8442:Lrrc49	UTSW	9	60,500,908 (GRCm39)	missense	probably benign	0.01
R8458:Lrrc49	UTSW	9	60,505,456 (GRCm39)	missense	probably benign	0.00
R8692:Lrrc49	UTSW	9	60,594,445 (GRCm39)	missense	probably damaging	0.97
R9036:Lrrc49	UTSW	9	60,495,150 (GRCm39)	missense	probably benign	0.17
R9126:Lrrc49	UTSW	9	60,578,594 (GRCm39)	missense	probably damaging	1.00
R9339:Lrrc49	UTSW	9	60,510,031 (GRCm39)	missense	probably benign	0.04
R9456:Lrrc49	UTSW	9	60,594,699 (GRCm39)	missense	probably benign	0.01
R9661:Lrrc49	UTSW	9	60,573,582 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrrc49	UTSW	9	60,584,504 (GRCm39)	missense	probably damaging	0.99
Z1177:Lrrc49	UTSW	9	60,505,376 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGAGGCTACAGGCAAGAACTGCTC -3'
(R):5'- CTCCAAGCCTGGATGCACTTACTAC -3'

Sequencing Primer
(F):5'- ctccatcaccaacacccac -3'
(R):5'- GGATGTGGACTCAGAATCTTACC -3'

Posted On

2013-04-16