Mutagenetix > Incidental Mutation

Incidental Mutation 'R9036:Lrrc49'

687404

Institutional Source

Beutler Lab

Gene Symbol

Lrrc49

Ensembl Gene

ENSMUSG00000047766

Gene Name

leucine rich repeat containing 49

Synonyms

D430025H09Rik

MMRRC Submission

068865-MU

Accession Numbers

Essential gene?

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

Stock #

R9036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60494507-60595460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60495150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 694 (C694S)

Ref Sequence

ENSEMBL: ENSMUSP00000070606 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053171
AA Change: C334S

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057014
Gene: ENSMUSG00000047766
AA Change: C334S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065603
AA Change: C694S

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: C694S

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: C622S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: C622S

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: C628S

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: C628S

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: 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: C688S

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: C688S

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	T	11: 54,227,840 (GRCm39)		probably null	Het
Anapc5	A	G	5: 122,957,716 (GRCm39)	L69P	possibly damaging	Het
Aoc1l3	CCTAAATTTCCTATCCCGATCAGCAAGGGTGGCCCTCGAGTGCCCCAGCCCCATGCTAAATTTCC	CCTAAATTTCC	6: 48,965,074 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,259,055 (GRCm39)	S681T	probably benign	Het
Arhgef19	A	G	4: 140,976,549 (GRCm39)	D437G	probably damaging	Het
Arhgef25	A	G	10: 127,019,089 (GRCm39)	V576A	probably benign	Het
Arl5b	T	C	2: 15,073,012 (GRCm39)		probably null	Het
Atg10	T	A	13: 91,189,071 (GRCm39)	T80S	probably benign	Het
BC034090	A	G	1: 155,117,419 (GRCm39)	V233A	possibly damaging	Het
Bicdl2	C	T	17: 23,887,158 (GRCm39)	R482C	probably damaging	Het
Ccdc63	G	A	5: 122,247,346 (GRCm39)	P500S	probably benign	Het
Ccn2	A	T	10: 24,472,647 (GRCm39)	T186S	probably benign	Het
Ccng1	A	T	11: 40,643,078 (GRCm39)	I123K	possibly damaging	Het
Ccp110	C	T	7: 118,324,680 (GRCm39)	S734F	probably damaging	Het
Cds2	T	C	2: 132,139,614 (GRCm39)		probably null	Het
Cenpw	G	A	10: 30,074,523 (GRCm39)	T58I	probably benign	Het
Cfap61	T	A	2: 145,850,839 (GRCm39)	L326I	probably benign	Het
Cgn	T	A	3: 94,674,551 (GRCm39)	Q862L	possibly damaging	Het
Cntrl	T	A	2: 35,016,071 (GRCm39)	D362E	probably damaging	Het
Col22a1	C	T	15: 71,762,431 (GRCm39)	G76E	probably damaging	Het
Cplane1	C	T	15: 8,252,622 (GRCm39)	T1948I	possibly damaging	Het
Crip2	A	G	12: 113,108,030 (GRCm39)	T140A	probably benign	Het
Csde1	T	C	3: 102,950,976 (GRCm39)	V229A	probably damaging	Het
Cyp2d34	A	G	15: 82,500,523 (GRCm39)	F439L	probably damaging	Het
Dync1h1	A	G	12: 110,606,186 (GRCm39)	T2419A	probably benign	Het
Dync2h1	A	T	9: 7,051,495 (GRCm39)	F3147I	probably damaging	Het
Dynlt1f	T	C	17: 6,916,707 (GRCm39)	T101A	probably benign	Het
Efcab3	A	G	11: 104,927,601 (GRCm39)	H4790R	probably benign	Het
Efcab8	G	A	2: 153,622,888 (GRCm39)	S19N		Het
Eno2	A	T	6: 124,740,091 (GRCm39)	I315K	possibly damaging	Het
Erich3	A	G	3: 154,468,886 (GRCm39)	T1113A	unknown	Het
Fam217a	A	T	13: 35,095,007 (GRCm39)	Y251N	possibly damaging	Het
Fcrlb	A	T	1: 170,734,938 (GRCm39)	H396Q	probably benign	Het
Fcsk	A	G	8: 111,614,064 (GRCm39)	V693A	probably benign	Het
Fgd5	A	T	6: 92,046,447 (GRCm39)	K1397*	probably null	Het
Frem1	C	A	4: 82,831,785 (GRCm39)	L2010F	probably benign	Het
Fzd8	A	G	18: 9,214,661 (GRCm39)	Y581C	probably damaging	Het
Gcc2	T	C	10: 58,106,411 (GRCm39)	V549A	possibly damaging	Het
Gcnt4	G	A	13: 97,083,042 (GRCm39)	V113I	probably benign	Het
Gldn	A	G	9: 54,245,747 (GRCm39)	I433V	probably benign	Het
Gm3336	A	G	8: 71,173,069 (GRCm39)	D27G	unknown	Het
Gm6133	T	A	18: 78,393,146 (GRCm39)	Y47N	probably damaging	Het
Gm8257	A	T	14: 44,893,877 (GRCm39)	N62K	probably benign	Het
Gpr18	T	G	14: 122,149,667 (GRCm39)	R119S	probably damaging	Het
Grm5	A	T	7: 87,685,397 (GRCm39)	I505F	possibly damaging	Het
Hdgfl1	T	C	13: 26,953,428 (GRCm39)	E215G	probably benign	Het
Heg1	T	A	16: 33,527,339 (GRCm39)	C100S	probably benign	Het
Isg20l2	T	C	3: 87,839,302 (GRCm39)	V171A	probably benign	Het
Map7d1	A	T	4: 126,133,911 (GRCm39)	I217N	probably damaging	Het
Mbnl2	A	T	14: 120,562,712 (GRCm39)	Q21L	probably benign	Het
Mfsd10	A	T	5: 34,792,751 (GRCm39)	F220Y	probably benign	Het
Mmp1b	A	C	9: 7,387,909 (GRCm39)	N28K	probably null	Het
Muc16	A	T	9: 18,555,975 (GRCm39)	N3439K	unknown	Het
Myef2l	C	A	3: 10,157,341 (GRCm39)	Q495K	unknown	Het
Myo9a	A	T	9: 59,687,584 (GRCm39)	K230*	probably null	Het
Mysm1	T	C	4: 94,835,294 (GRCm39)	T790A	probably benign	Het
Nell2	C	T	15: 95,194,117 (GRCm39)	C532Y	probably damaging	Het
Nmnat1	T	A	4: 149,553,482 (GRCm39)	N210I	probably damaging	Het
Or14j7	T	G	17: 38,235,168 (GRCm39)	V237G	probably benign	Het
Or2aj6	A	T	16: 19,443,295 (GRCm39)	L185*	probably null	Het
Or4k41	T	C	2: 111,280,343 (GRCm39)	I286T	probably damaging	Het
Or7g16	G	A	9: 18,727,569 (GRCm39)	T7I	probably damaging	Het
Pabpc6	T	C	17: 9,888,281 (GRCm39)	D90G	probably damaging	Het
Pacs2	A	T	12: 113,026,104 (GRCm39)	I554F	possibly damaging	Het
Padi3	C	A	4: 140,523,004 (GRCm39)	V323L	probably benign	Het
Piezo1	G	A	8: 123,215,090 (GRCm39)	P1484L		Het
Pogk	A	G	1: 166,227,254 (GRCm39)	I299T	possibly damaging	Het
Ptprk	A	G	10: 28,461,928 (GRCm39)	I1164V	probably benign	Het
Raph1	A	G	1: 60,542,124 (GRCm39)	M278T	unknown	Het
Rasa3	T	A	8: 13,645,851 (GRCm39)	Q163L	probably benign	Het
Rbm6	T	A	9: 107,660,911 (GRCm39)	K884I	probably damaging	Het
Rtl1	A	G	12: 109,559,691 (GRCm39)	V716A	probably benign	Het
Sag	A	G	1: 87,749,054 (GRCm39)	K151R	probably damaging	Het
Scara5	G	A	14: 66,000,197 (GRCm39)	V456M	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc4a1	A	T	11: 102,243,279 (GRCm39)	V784D	probably damaging	Het
Sstr1	T	C	12: 58,259,569 (GRCm39)	I64T	possibly damaging	Het
Steap1	A	G	5: 5,790,708 (GRCm39)	I80T	probably benign	Het
Tbc1d24	T	A	17: 24,427,491 (GRCm39)	D157V	probably benign	Het
Thsd7a	T	C	6: 12,418,249 (GRCm39)	E660G		Het
Trappc3l	A	G	10: 33,932,786 (GRCm39)		probably benign	Het
Tsc22d2	T	C	3: 58,323,497 (GRCm39)	S130P	probably benign	Het
Tti2	T	A	8: 31,645,814 (GRCm39)	I376N	probably damaging	Het
Ttll2	C	A	17: 7,619,054 (GRCm39)	W291L	probably benign	Het
Ttll3	G	A	6: 113,376,657 (GRCm39)	V345I	possibly damaging	Het
Ttn	A	G	2: 76,565,046 (GRCm39)	Y28394H	probably damaging	Het
Usp45	A	G	4: 21,832,201 (GRCm39)	Y684C	probably damaging	Het
Vdr	A	G	15: 97,765,089 (GRCm39)	S217P	probably benign	Het
Xpot	A	G	10: 121,447,580 (GRCm39)	L105P	probably damaging	Het
Zan	A	G	5: 137,464,206 (GRCm39)	I533T	probably damaging	Het
Zbtb8a	T	C	4: 129,248,059 (GRCm39)	E404G	probably benign	Het
Zfp106	T	A	2: 120,369,906 (GRCm39)	I62F	probably damaging	Het
Zfp451	A	T	1: 33,815,562 (GRCm39)	F796Y	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
R0335:Lrrc49	UTSW	9	60,584,378 (GRCm39)	missense	probably damaging	0.99
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
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'- AGCCATCCCTATTTCTGGTCAG -3'
(R):5'- AAGCAGTGAGGCCCTACTTG -3'

Sequencing Primer
(F):5'- TCAGTGATCTGCTGCAGGC -3'
(R):5'- AGAGCCCTCTCTCAAGAGCTTC -3'

Posted On

2021-11-19