Mutagenetix > Incidental Mutation

Incidental Mutation 'R0372:Lrrc27'

30542

Institutional Source

Beutler Lab

Gene Symbol

Lrrc27

Ensembl Gene

ENSMUSG00000015980

Gene Name

leucine rich repeat containing 27

Synonyms

1700071K18Rik, 2310044E02Rik

MMRRC Submission

038578-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R0372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139212988-139242979 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139226187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 256 (I256K)

Ref Sequence

ENSEMBL: ENSMUSP00000101710 (fasta)

Gene Model

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

AlphaFold

Q80YS5

Predicted Effect

probably benign
Transcript: ENSMUST00000016124
AA Change: I256K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000016124
Gene: ENSMUSG00000015980
AA Change: I256K

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 benign
Transcript: ENSMUST00000106104
AA Change: I256K

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

SMART Domains

Protein: ENSMUSP00000101710
Gene: ENSMUSG00000015980
AA Change: I256K

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

probably benign
Transcript: ENSMUST00000135509

SMART Domains

Protein: ENSMUSP00000116827
Gene: ENSMUSG00000015980

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	A	14: 63,973,482	Q99L	probably damaging	Het
Abca2	A	G	2: 25,437,353	Y641C	probably damaging	Het
Abhd10	A	G	16: 45,736,891		probably null	Het
Acan	G	T	7: 79,100,601	A1707S	probably benign	Het
Ankrd61	T	A	5: 143,891,175	R284S	probably benign	Het
Ap3d1	T	C	10: 80,723,567	K258E	probably damaging	Het
Arl6ip6	T	G	2: 53,202,921	F153V	probably damaging	Het
Atp2c2	C	A	8: 119,757,441	F930L	probably benign	Het
Avl9	T	C	6: 56,726,324		probably null	Het
Axin2	A	G	11: 108,923,333	S16G	probably damaging	Het
Axin2	T	A	11: 108,924,110		probably benign	Het
Bbs7	A	T	3: 36,602,832	D282E	probably benign	Het
Ccny	A	T	18: 9,345,201	V191D	probably damaging	Het
Cdk11b	A	G	4: 155,641,500		probably benign	Het
Chd1	T	A	17: 17,387,290	C367S	probably benign	Het
Cnnm4	G	A	1: 36,498,010	V472M	probably damaging	Het
Cpb2	T	A	14: 75,242,377	I8N	probably benign	Het
Dusp11	A	G	6: 85,958,730		probably benign	Het
Elmo1	T	C	13: 20,572,459		probably null	Het
Gbf1	C	T	19: 46,285,704	P1726S	probably benign	Het
Hal	A	G	10: 93,507,553		probably benign	Het
Hlcs	T	C	16: 94,138,907	I671V	possibly damaging	Het
Ifnab	A	G	4: 88,690,834	S132P	probably benign	Het
Ing5	T	C	1: 93,812,420	I70T	probably damaging	Het
Ints1	T	C	5: 139,772,438	N228S	probably damaging	Het
Itgb6	T	A	2: 60,627,841	I523F	probably benign	Het
Kat2b	T	C	17: 53,638,537	F328S	possibly damaging	Het
Kbtbd3	A	T	9: 4,316,950	I34F	possibly damaging	Het
Klhl11	A	T	11: 100,463,522	I491N	probably damaging	Het
Lmo7	A	T	14: 101,918,053		probably benign	Het
Lrp1	G	T	10: 127,592,136	P523T	probably damaging	Het
Lrp1b	T	A	2: 40,730,798	D3556V	probably benign	Het
Lrp2	T	A	2: 69,535,043	H262L	probably benign	Het
Lrrc47	G	A	4: 154,019,632	R523K	probably benign	Het
Lrrc71	A	T	3: 87,745,777	S111T	probably benign	Het
Map3k7cl	T	C	16: 87,581,212	V72A	probably damaging	Het
Mphosph10	G	T	7: 64,388,855		probably benign	Het
Nlrp4a	T	C	7: 26,449,232		probably benign	Het
Nsd2	A	T	5: 33,891,551	M1140L	probably damaging	Het
Nt5dc3	T	C	10: 86,825,291	M440T	possibly damaging	Het
Olfr183	T	C	16: 59,000,087	V134A	probably benign	Het
Oog4	A	T	4: 143,437,689	L424Q	probably damaging	Het
Orc5	A	T	5: 22,533,784	Y160N	possibly damaging	Het
Papola	T	C	12: 105,818,838	F410L	probably benign	Het
Pcdh10	A	G	3: 45,379,497	E82G	probably damaging	Het
Pcdh20	T	C	14: 88,469,003	Y287C	probably damaging	Het
Pld1	T	A	3: 28,088,638		probably null	Het
Plekha8	G	A	6: 54,616,758		probably null	Het
Ppbp	C	T	5: 90,769,343	T93M	possibly damaging	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rab3gap2	C	T	1: 185,262,694	T810M	possibly damaging	Het
Rassf9	A	G	10: 102,546,011	N418S	possibly damaging	Het
Rnf20	C	G	4: 49,650,176	R582G	possibly damaging	Het
Serpine2	T	C	1: 79,821,430	I36V	probably damaging	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Slc24a2	A	T	4: 87,227,292	V175E	probably damaging	Het
Sned1	T	C	1: 93,285,951		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spg11	GCC	G	2: 122,059,447		probably null	Het
Tecrl	C	T	5: 83,294,659	C189Y	probably damaging	Het
Tert	A	G	13: 73,648,991	D1116G	probably damaging	Het
Thnsl2	T	C	6: 71,139,790	Y126C	probably damaging	Het
Tll2	T	C	19: 41,183,313		probably null	Het
Ubqln4	C	T	3: 88,555,969	S147L	probably benign	Het
Ugt2b5	A	T	5: 87,140,258	C17S	probably benign	Het
Vps41	A	T	13: 18,842,247	Q505L	probably benign	Het
Zfp386	T	C	12: 116,054,816	M35T	possibly damaging	Het
Zfp777	T	C	6: 48,044,476	M71V	possibly damaging	Het
Zfp938	A	T	10: 82,227,828	L34Q	probably damaging	Het
Zfp974	A	T	7: 27,920,695		probably null	Het

Other mutations in Lrrc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Lrrc27	APN	7	139227911	intron	probably benign
IGL02095:Lrrc27	APN	7	139230253	missense	probably benign	0.04
IGL02489:Lrrc27	APN	7	139226061	missense	probably benign	0.01
IGL03080:Lrrc27	APN	7	139230237	missense	probably benign	0.03
R1466:Lrrc27	UTSW	7	139230308	unclassified	probably benign
R2401:Lrrc27	UTSW	7	139223613	missense	probably damaging	1.00
R2876:Lrrc27	UTSW	7	139228684	intron	probably benign
R3113:Lrrc27	UTSW	7	139218307	missense	probably damaging	1.00
R4214:Lrrc27	UTSW	7	139223693	missense	probably damaging	1.00
R4707:Lrrc27	UTSW	7	139242698	missense	probably benign	0.02
R4784:Lrrc27	UTSW	7	139242698	missense	probably benign	0.02
R5070:Lrrc27	UTSW	7	139214799	missense	probably damaging	0.99
R5855:Lrrc27	UTSW	7	139218335	unclassified	probably benign
R6408:Lrrc27	UTSW	7	139218268	missense	probably benign	0.14
R6993:Lrrc27	UTSW	7	139242624	missense	probably damaging	0.99
R7332:Lrrc27	UTSW	7	139242745	missense	probably damaging	1.00
R7350:Lrrc27	UTSW	7	139226106	missense	probably benign	0.01
R7460:Lrrc27	UTSW	7	139223658	missense	probably damaging	1.00
R7502:Lrrc27	UTSW	7	139214832	missense	probably benign
R8020:Lrrc27	UTSW	7	139236877	missense	probably damaging	1.00
R8071:Lrrc27	UTSW	7	139236986	missense	probably benign	0.01
R8518:Lrrc27	UTSW	7	139228774	missense	probably benign	0.01
R8728:Lrrc27	UTSW	7	139242639	missense	probably damaging	1.00
R8734:Lrrc27	UTSW	7	139216599	unclassified	probably benign
R9141:Lrrc27	UTSW	7	139227945	missense	probably benign	0.03
R9355:Lrrc27	UTSW	7	139242732	missense	probably damaging	0.98
R9387:Lrrc27	UTSW	7	139227921	nonsense	probably null
R9627:Lrrc27	UTSW	7	139228666	intron	probably benign
R9742:Lrrc27	UTSW	7	139226313	missense	probably benign	0.39
R9779:Lrrc27	UTSW	7	139236970	missense	possibly damaging	0.95
R9800:Lrrc27	UTSW	7	139227997	missense	probably benign	0.16
RF018:Lrrc27	UTSW	7	139226100	missense	probably benign	0.03
X0065:Lrrc27	UTSW	7	139230245	missense	probably benign	0.00
X0065:Lrrc27	UTSW	7	139230246	missense	probably benign	0.00
Z1176:Lrrc27	UTSW	7	139242720	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATGACCTTCAGTATCCCGTGCTC -3'
(R):5'- TCAGTGACACTGGTCTGTCTGCTC -3'

Sequencing Primer
(F):5'- TCCCTCTGCCCCGTAAAG -3'
(R):5'- GGCTTGGTCCGATATACCCTAAAC -3'

Posted On

2013-04-24