Mutagenetix > Incidental Mutation

Incidental Mutation 'R8220:Lrrc49'

636630

Institutional Source

Beutler Lab

Gene Symbol

Lrrc49

Ensembl Gene

ENSMUSG00000047766

Gene Name

leucine rich repeat containing 49

Synonyms

D430025H09Rik

MMRRC Submission

067638-MU

Accession Numbers

Essential gene?

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

Stock #

R8220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60494507-60595460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60517613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 432 (D432V)

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: D72V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000057014
Gene: ENSMUSG00000047766
AA Change: D72V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065603
AA Change: D432V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: D432V

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: D360V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: D360V

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: D366V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: D366V

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: D426V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: D426V

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: 99.1%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	T	16: 88,570,723 (GRCm39)	C106S	probably damaging	Het
Abca13	C	T	11: 9,384,299 (GRCm39)	T3917M	possibly damaging	Het
Abcb8	T	C	5: 24,611,783 (GRCm39)	I533T	possibly damaging	Het
Becn1	C	T	11: 101,187,105 (GRCm39)	R78Q	possibly damaging	Het
Bhlha9	T	C	11: 76,563,703 (GRCm39)	I110T	probably damaging	Het
Cemip	T	C	7: 83,596,368 (GRCm39)	D1132G	probably damaging	Het
Cyth3	T	A	5: 143,687,344 (GRCm39)		probably null	Het
Dcpp2	A	G	17: 24,119,666 (GRCm39)	E160G	possibly damaging	Het
Dock10	C	T	1: 80,506,366 (GRCm39)	G1726S	probably null	Het
Dsel	T	C	1: 111,789,437 (GRCm39)	D366G	probably damaging	Het
Ednrb	A	T	14: 104,059,141 (GRCm39)	L295Q	probably damaging	Het
Etaa1	C	T	11: 17,895,690 (GRCm39)	R809K	probably benign	Het
Fahd1	A	G	17: 25,068,864 (GRCm39)	L71P	probably damaging	Het
Fat1	A	G	8: 45,492,993 (GRCm39)	E3882G	probably null	Het
Frem2	A	T	3: 53,563,928 (GRCm39)	L193*	probably null	Het
Gba2	T	G	4: 43,568,510 (GRCm39)	D652A	probably damaging	Het
Gm5460	C	T	14: 33,767,876 (GRCm39)	P220S	probably damaging	Het
Gm7137	A	T	10: 77,623,785 (GRCm39)	C84S	unknown	Het
Gm8122	G	T	14: 43,090,174 (GRCm39)		probably null	Het
H1f4	T	C	13: 23,805,922 (GRCm39)	S187G	probably benign	Het
Hyal5	A	T	6: 24,876,879 (GRCm39)	I251L	probably benign	Het
Igf2r	A	T	17: 12,910,958 (GRCm39)	S1953R	probably benign	Het
Igkc	C	A	6: 70,703,666 (GRCm39)	N82K		Het
Il18	T	A	9: 50,486,616 (GRCm39)	M15K	possibly damaging	Het
Insr	T	A	8: 3,208,702 (GRCm39)	E1253V	probably benign	Het
Itgax	A	G	7: 127,730,090 (GRCm39)	Q82R	probably benign	Het
Kcnn3	A	G	3: 89,568,548 (GRCm39)	I609V	probably benign	Het
Klk14	A	G	7: 43,343,498 (GRCm39)	D110G	probably damaging	Het
Lamb3	T	A	1: 193,016,556 (GRCm39)	L679Q	probably damaging	Het
Lgsn	C	T	1: 31,235,881 (GRCm39)	A115V	probably benign	Het
Lipt1	C	T	1: 37,914,706 (GRCm39)	T254M	probably damaging	Het
Lrrc3b	T	C	14: 15,358,004 (GRCm38)	T201A	probably damaging	Het
Meltf	A	G	16: 31,706,233 (GRCm39)	N239S	probably benign	Het
Mki67	G	A	7: 135,299,850 (GRCm39)	A1728V	probably benign	Het
Mms22l	T	A	4: 24,536,375 (GRCm39)	L615I	probably damaging	Het
Mtcl3	C	T	10: 29,023,264 (GRCm39)	Q204*	probably null	Het
Mttp	C	A	3: 137,829,609 (GRCm39)	G93V	probably benign	Het
Muc4	A	T	16: 32,575,701 (GRCm39)	T1734S	unknown	Het
Myh9	C	T	15: 77,648,747 (GRCm39)	R1703Q	possibly damaging	Het
N4bp1	T	C	8: 87,571,315 (GRCm39)	*894W	probably null	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Nup43	C	T	10: 7,552,097 (GRCm39)	A295V	probably benign	Het
Or1af1	T	C	2: 37,109,791 (GRCm39)	C97R	probably benign	Het
Or4b12	T	C	2: 90,096,387 (GRCm39)	H129R	probably benign	Het
Or7g32	G	T	9: 19,408,317 (GRCm39)	S91I	probably damaging	Het
Or8k3	C	T	2: 86,059,309 (GRCm39)	G2E	probably benign	Het
Or9m2	C	T	2: 87,820,496 (GRCm39)	L14F	probably damaging	Het
Pcdha11	A	G	18: 37,139,624 (GRCm39)	T418A	probably benign	Het
Pdzd2	T	C	15: 12,592,249 (GRCm39)	K132E	probably damaging	Het
Pira13	T	C	7: 3,825,903 (GRCm39)	E322G	unknown	Het
Plec	C	T	15: 76,062,497 (GRCm39)	R2480H	possibly damaging	Het
Plscr2	G	A	9: 92,177,713 (GRCm39)	G293D	probably damaging	Het
Prr23a4	A	G	9: 98,785,581 (GRCm39)	D82G	probably benign	Het
Ptchd4	A	G	17: 42,813,554 (GRCm39)	H485R	probably benign	Het
Rbbp9	A	T	2: 144,389,986 (GRCm39)	M59K	probably null	Het
Rest	G	A	5: 77,430,325 (GRCm39)	A915T	probably benign	Het
Rhbdf1	C	T	11: 32,164,563 (GRCm39)	A168T	probably benign	Het
Scamp2	A	T	9: 57,484,953 (GRCm39)	Q53L	probably benign	Het
Scn2a	T	C	2: 65,520,620 (GRCm39)	F539L	probably benign	Het
Sdr16c6	A	T	4: 4,076,872 (GRCm39)	I9N	probably benign	Het
Slc23a3	T	A	1: 75,110,511 (GRCm39)		probably benign	Het
Slc6a19	A	G	13: 73,833,889 (GRCm39)	S390P	probably damaging	Het
Snx11	C	T	11: 96,661,885 (GRCm39)	R99Q	probably damaging	Het
Suclg2	T	A	6: 95,565,927 (GRCm39)	I189F	possibly damaging	Het
Tedc1	T	C	12: 113,120,375 (GRCm39)		probably null	Het
Timeless	A	T	10: 128,082,265 (GRCm39)	R598W	probably damaging	Het
Tm9sf3	A	T	19: 41,203,526 (GRCm39)	N583K	possibly damaging	Het
Tox3	A	G	8: 90,984,708 (GRCm39)	V157A	probably damaging	Het
Tpr	G	T	1: 150,308,164 (GRCm39)	V1640L	probably benign	Het
Trav7-4	C	T	14: 53,699,102 (GRCm39)	A83V	probably benign	Het
Trdn	A	G	10: 33,326,981 (GRCm39)	K590R	possibly damaging	Het
Trim11	T	C	11: 58,881,220 (GRCm39)	L371P	probably damaging	Het
Trim5	T	A	7: 103,926,033 (GRCm39)	Q176L	probably damaging	Het
Tubgcp2	T	C	7: 139,586,053 (GRCm39)	H412R	possibly damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Ush2a	T	A	1: 188,460,863 (GRCm39)	V2708E	probably damaging	Het
Vmn1r87	T	A	7: 12,865,427 (GRCm39)	T287S	possibly damaging	Het
Zbtb7a	A	G	10: 80,980,838 (GRCm39)	D344G	probably damaging	Het
Zfp560	G	T	9: 20,260,348 (GRCm39)	N171K	probably benign	Het
Zfp579	A	T	7: 4,996,850 (GRCm39)	C354S	probably benign	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
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'- TCATTAGGGAAATGTTACAGCCAG -3'
(R):5'- TGCCTGACAGGAATTCCCTC -3'

Sequencing Primer
(F):5'- TGAAACGGTCTCCCATCT -3'
(R):5'- TGACAGGAATTCCCTCTCAGAAAG -3'

Posted On

2020-07-13