Mutagenetix > Incidental Mutation

Incidental Mutation 'R3113:Lrrc27'

263880

Institutional Source

Beutler Lab

Gene Symbol

Lrrc27

Ensembl Gene

ENSMUSG00000015980

Gene Name

leucine rich repeat containing 27

Synonyms

2310044E02Rik, 1700071K18Rik

MMRRC Submission

040586-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R3113 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138792904-138822895 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138798223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 106 (D106G)

Ref Sequence

ENSEMBL: ENSMUSP00000101710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016124] [ENSMUST00000106104] [ENSMUST00000135509] [ENSMUST00000156768] [ENSMUST00000165870]

AlphaFold

Q80YS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000016124
AA Change: D106G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016124
Gene: ENSMUSG00000015980
AA Change: D106G

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
LRR_TYP	75	98	1.03e-2	SMART
LRR_TYP	99	122	3.69e-4	SMART
LRR	123	145	7.38e1	SMART
low complexity region	271	283	N/A	INTRINSIC
coiled coil region	336	370	N/A	INTRINSIC
coiled coil region	463	491	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106104
AA Change: D106G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101710
Gene: ENSMUSG00000015980
AA Change: D106G

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
LRR_TYP	75	98	1.03e-2	SMART
LRR_TYP	99	122	3.69e-4	SMART
LRR	123	145	7.38e1	SMART
low complexity region	271	283	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130248

Predicted Effect

silent
Transcript: ENSMUST00000135509

SMART Domains

Protein: ENSMUSP00000116827
Gene: ENSMUSG00000015980

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156768

SMART Domains

Protein: ENSMUSP00000116624
Gene: ENSMUSG00000015980

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
LRR_TYP	75	98	1.03e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165870

SMART Domains

Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	232	1.2e-30	PFAM
Pfam:Pkinase	1	235	1.5e-51	PFAM
Pfam:Kinase-like	12	223	6.2e-13	PFAM
low complexity region	280	289	N/A	INTRINSIC
low complexity region	290	300	N/A	INTRINSIC

Meta Mutation Damage Score

0.6419

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,372 (GRCm39)	Y248*	probably null	Het
Acta2	T	C	19: 34,220,752 (GRCm39)	I319V	probably benign	Het
Alox15	A	T	11: 70,235,703 (GRCm39)	N585K	probably benign	Het
Ank	T	A	15: 27,571,700 (GRCm39)	I324N	probably damaging	Het
Ank1	A	G	8: 23,574,813 (GRCm39)	N99D	probably damaging	Het
As3mt	T	C	19: 46,703,717 (GRCm39)		probably benign	Het
Atg4b	C	T	1: 93,703,426 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,047,541 (GRCm39)	V705D	probably damaging	Het
Bves	T	C	10: 45,219,148 (GRCm39)	V82A	probably benign	Het
Cad	C	A	5: 31,231,481 (GRCm39)	H7Q	possibly damaging	Het
Carmil1	A	G	13: 24,253,740 (GRCm39)	V387A	probably benign	Het
Csnk2a1	T	A	2: 152,105,134 (GRCm39)	F181Y	probably damaging	Het
Cwc22	A	T	2: 77,754,823 (GRCm39)		probably benign	Het
Ddx18	A	G	1: 121,493,877 (GRCm39)	S36P	possibly damaging	Het
Dnai2	T	A	11: 114,642,756 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,769,008 (GRCm39)	M765K	probably benign	Het
Fitm2	T	C	2: 163,311,511 (GRCm39)	Y234C	probably damaging	Het
Flrt3	T	C	2: 140,503,454 (GRCm39)	E58G	probably benign	Het
Foxs1	A	G	2: 152,774,156 (GRCm39)	V299A	probably benign	Het
Galnt12	A	G	4: 47,108,415 (GRCm39)	N184S	probably benign	Het
Gata6	T	C	18: 11,063,124 (GRCm39)	L464P	probably damaging	Het
Gm17332	T	C	11: 31,132,384 (GRCm39)	T27A	possibly damaging	Het
Ifna11	A	C	4: 88,738,220 (GRCm39)	M9L	probably benign	Het
Ldb3	T	A	14: 34,251,418 (GRCm39)	*623L	probably null	Het
Ly6f	A	G	15: 75,143,577 (GRCm39)	N95D	probably benign	Het
Lyst	A	G	13: 13,844,512 (GRCm39)	I1901V	probably benign	Het
Mboat2	A	G	12: 24,932,718 (GRCm39)	Y70C	probably damaging	Het
Mmut	G	A	17: 41,269,247 (GRCm39)	G610D	probably damaging	Het
Mroh1	T	A	15: 76,292,736 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,399,871 (GRCm39)	H448R	unknown	Het
Myh2	A	G	11: 67,076,012 (GRCm39)	N733S	probably damaging	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Nlrp1a	A	T	11: 71,014,491 (GRCm39)	I253N	probably damaging	Het
Ocrl	A	G	X: 47,022,304 (GRCm39)	E258G	probably benign	Het
Or2w1	T	A	13: 21,317,299 (GRCm39)	M118K	probably damaging	Het
Or6c2	A	T	10: 129,363,012 (GRCm39)	R305S	probably benign	Het
Pak1	C	A	7: 97,515,321 (GRCm39)	S115*	probably null	Het
Pilrb1	C	T	5: 137,853,195 (GRCm39)	V203I	possibly damaging	Het
Ppfia2	T	A	10: 106,742,256 (GRCm39)	Y1016*	probably null	Het
Prmt3	C	A	7: 49,431,760 (GRCm39)	P121Q	probably damaging	Het
Rhox6	T	A	X: 36,916,507 (GRCm39)	I116N	possibly damaging	Het
Saxo2	A	C	7: 82,292,949 (GRCm39)	F49L	probably benign	Het
Scn2a	A	C	2: 65,579,129 (GRCm39)	D1488A	possibly damaging	Het
Scn5a	T	A	9: 119,314,738 (GRCm39)	D1989V	probably damaging	Het
Sec31b	C	A	19: 44,506,624 (GRCm39)	E905*	probably null	Het
Secisbp2l	A	T	2: 125,592,206 (GRCm39)	F672I	probably damaging	Het
Slc22a23	C	T	13: 34,367,058 (GRCm39)	G650E	probably damaging	Het
Smu1	A	G	4: 40,748,658 (GRCm39)	F211L	probably benign	Het
Spef1l	G	T	7: 139,555,878 (GRCm39)		probably benign	Het
Tab1	C	T	15: 80,032,461 (GRCm39)	L23F	probably benign	Het
Thsd7b	G	A	1: 129,977,599 (GRCm39)	C1078Y	probably benign	Het
Ttn	A	T	2: 76,644,542 (GRCm39)	Y13071N	probably damaging	Het
Usp17ld	A	G	7: 102,899,870 (GRCm39)	V354A	probably benign	Het
Usp31	A	G	7: 121,278,736 (GRCm39)	S210P	probably damaging	Het
Wdr12	T	C	1: 60,126,221 (GRCm39)	D198G	probably benign	Het
Wrap53	A	G	11: 69,454,144 (GRCm39)	V298A	probably benign	Het
Xirp2	A	G	2: 67,340,491 (GRCm39)	I911V	probably benign	Het
Zcchc2	T	C	1: 105,918,752 (GRCm39)	M78T	unknown	Het

Other mutations in Lrrc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Lrrc27	APN	7	138,807,827 (GRCm39)	intron	probably benign
IGL02095:Lrrc27	APN	7	138,810,169 (GRCm39)	missense	probably benign	0.04
IGL02489:Lrrc27	APN	7	138,805,977 (GRCm39)	missense	probably benign	0.01
IGL03080:Lrrc27	APN	7	138,810,153 (GRCm39)	missense	probably benign	0.03
R0372:Lrrc27	UTSW	7	138,806,103 (GRCm39)	missense	probably benign	0.17
R1466:Lrrc27	UTSW	7	138,810,224 (GRCm39)	unclassified	probably benign
R2401:Lrrc27	UTSW	7	138,803,529 (GRCm39)	missense	probably damaging	1.00
R2876:Lrrc27	UTSW	7	138,808,600 (GRCm39)	intron	probably benign
R4214:Lrrc27	UTSW	7	138,803,609 (GRCm39)	missense	probably damaging	1.00
R4707:Lrrc27	UTSW	7	138,822,614 (GRCm39)	missense	probably benign	0.02
R4784:Lrrc27	UTSW	7	138,822,614 (GRCm39)	missense	probably benign	0.02
R5070:Lrrc27	UTSW	7	138,794,715 (GRCm39)	missense	probably damaging	0.99
R5855:Lrrc27	UTSW	7	138,798,251 (GRCm39)	unclassified	probably benign
R6408:Lrrc27	UTSW	7	138,798,184 (GRCm39)	missense	probably benign	0.14
R6993:Lrrc27	UTSW	7	138,822,540 (GRCm39)	missense	probably damaging	0.99
R7332:Lrrc27	UTSW	7	138,822,661 (GRCm39)	missense	probably damaging	1.00
R7350:Lrrc27	UTSW	7	138,806,022 (GRCm39)	missense	probably benign	0.01
R7460:Lrrc27	UTSW	7	138,803,574 (GRCm39)	missense	probably damaging	1.00
R7502:Lrrc27	UTSW	7	138,794,748 (GRCm39)	missense	probably benign
R8020:Lrrc27	UTSW	7	138,816,793 (GRCm39)	missense	probably damaging	1.00
R8071:Lrrc27	UTSW	7	138,816,902 (GRCm39)	missense	probably benign	0.01
R8518:Lrrc27	UTSW	7	138,808,690 (GRCm39)	missense	probably benign	0.01
R8728:Lrrc27	UTSW	7	138,822,555 (GRCm39)	missense	probably damaging	1.00
R8734:Lrrc27	UTSW	7	138,796,515 (GRCm39)	unclassified	probably benign
R9141:Lrrc27	UTSW	7	138,807,861 (GRCm39)	missense	probably benign	0.03
R9355:Lrrc27	UTSW	7	138,822,648 (GRCm39)	missense	probably damaging	0.98
R9387:Lrrc27	UTSW	7	138,807,837 (GRCm39)	nonsense	probably null
R9627:Lrrc27	UTSW	7	138,808,582 (GRCm39)	intron	probably benign
R9742:Lrrc27	UTSW	7	138,806,229 (GRCm39)	missense	probably benign	0.39
R9779:Lrrc27	UTSW	7	138,816,886 (GRCm39)	missense	possibly damaging	0.95
R9800:Lrrc27	UTSW	7	138,807,913 (GRCm39)	missense	probably benign	0.16
RF018:Lrrc27	UTSW	7	138,806,016 (GRCm39)	missense	probably benign	0.03
X0065:Lrrc27	UTSW	7	138,810,162 (GRCm39)	missense	probably benign	0.00
X0065:Lrrc27	UTSW	7	138,810,161 (GRCm39)	missense	probably benign	0.00
Z1176:Lrrc27	UTSW	7	138,822,636 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGAGTGTAGCCAGAGAG -3'
(R):5'- CTGCACTTTGAACCATCTGGAC -3'

Sequencing Primer
(F):5'- AATCTCTCTGGTTCTTGAGTCCG -3'
(R):5'- GGACTTTTTAATTCTGAGACGGCAAC -3'

Posted On

2015-02-05