Mutagenetix > Incidental Mutation

Incidental Mutation 'R7350:Lrrc27'

570501

Institutional Source

Beutler Lab

Gene Symbol

Lrrc27

Ensembl Gene

ENSMUSG00000015980

Gene Name

leucine rich repeat containing 27

Synonyms

1700071K18Rik, 2310044E02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139212988-139242979 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139226106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 229 (E229G)

Ref Sequence

ENSEMBL: ENSMUSP00000016124 (fasta)

Gene Model

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

AlphaFold

Q80YS5

Predicted Effect

probably benign
Transcript: ENSMUST00000016124
AA Change: E229G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000016124
Gene: ENSMUSG00000015980
AA Change: E229G

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

possibly damaging
Transcript: ENSMUST00000106104
AA Change: E229G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101710
Gene: ENSMUSG00000015980
AA Change: E229G

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

probably benign
Transcript: ENSMUST00000135509

SMART Domains

Protein: ENSMUSP00000116827
Gene: ENSMUSG00000015980

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	A	T	17: 25,946,711	V534D	probably damaging	Het
Abraxas2	T	C	7: 132,874,849	F106S	probably damaging	Het
Acsf3	A	G	8: 122,785,946	T369A	probably benign	Het
Adgrf5	G	A	17: 43,428,444		probably null	Het
Aff1	T	A	5: 103,847,092	I1052K	probably benign	Het
Akap8	T	C	17: 32,316,575	D155G	possibly damaging	Het
Alg10b	A	T	15: 90,227,450	M166L	probably benign	Het
Allc	T	A	12: 28,563,409	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,777,110	L297F	probably damaging	Het
Arfgap1	A	G	2: 180,971,076	K8E	possibly damaging	Het
Bckdhb	T	A	9: 84,010,326	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,475,375		probably null	Het
Cd44	G	T	2: 102,834,262	N531K	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cr2	A	G	1: 195,155,286	V792A	probably benign	Het
Cstf3	T	C	2: 104,608,956	L38P	probably damaging	Het
Cyp2a5	A	G	7: 26,836,783	E151G	probably benign	Het
Dbr1	T	C	9: 99,582,549	F127S		Het
Ddit4	A	T	10: 59,951,495	D6E	probably damaging	Het
Disc1	G	C	8: 125,165,102	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,819		probably null	Het
Dnah9	T	C	11: 66,080,578	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,901,505	R608G	probably damaging	Het
Efcab5	G	C	11: 77,137,561	P315A	probably benign	Het
Eif4a2	A	G	16: 23,113,262	Y392C	possibly damaging	Het
F5	G	T	1: 164,192,708	K917N	probably benign	Het
Fig4	T	C	10: 41,251,756	M571V	probably benign	Het
Flot2	T	A	11: 78,057,976	I259N	probably damaging	Het
Gm8122	C	A	14: 43,230,601		probably null	Het
Gpr152	T	C	19: 4,142,964	V168A	possibly damaging	Het
H1f0	G	A	15: 79,028,903	G61D	probably damaging	Het
Ihh	T	A	1: 74,948,333	K183M	probably damaging	Het
Itga2	A	G	13: 114,837,202	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,369,260	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,621,966	L120R	probably damaging	Het
Krt14	C	A	11: 100,205,100	E211*	probably null	Het
Lars2	T	C	9: 123,427,480	L350P	probably damaging	Het
Lrba	T	C	3: 86,351,902	I1408T	probably damaging	Het
Lrrc8e	G	T	8: 4,235,626	R617L	probably benign	Het
M1ap	A	G	6: 82,981,949	D187G	probably benign	Het
March1	A	T	8: 66,468,399	K243*	probably null	Het
Med16	C	T	10: 79,903,197	V252M	probably damaging	Het
Micu3	T	C	8: 40,348,958	S189P	probably benign	Het
Mier2	C	A	10: 79,540,298	M264I	unknown	Het
Mindy4	A	T	6: 55,301,025	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,976,336	Q534*	probably null	Het
Mroh9	C	T	1: 163,076,289		probably null	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Mta3	T	A	17: 83,708,441	I24N	probably damaging	Het
Mtmr4	A	T	11: 87,600,650	H147L	probably damaging	Het
Nfam1	T	C	15: 83,010,439	K155R	probably benign	Het
Nlrp6	A	T	7: 140,921,278		probably benign	Het
Olfr1006	A	G	2: 85,674,845	F102S		Het
Olfr1153	T	C	2: 87,896,409		probably benign	Het
Olfr1164	A	T	2: 88,093,198	F246Y	probably benign	Het
Olfr213	A	G	6: 116,540,534	E27G	probably benign	Het
Olfr357	T	A	2: 36,996,861	I17N	possibly damaging	Het
P4ha1	A	G	10: 59,350,418	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,458,379	D636E	probably benign	Het
Polr2a	A	G	11: 69,741,060	L1060P	possibly damaging	Het
Ptgdr2	C	A	19: 10,940,955	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,937,421	R121S	probably benign	Het
Rasa2	T	C	9: 96,544,355	S813G	probably benign	Het
Rassf5	T	C	1: 131,178,536	K411E	possibly damaging	Het
Reep4	T	C	14: 70,546,547	Y35H	probably damaging	Het
Ror1	A	T	4: 100,425,943	M402L	probably benign	Het
Slc32a1	A	G	2: 158,614,406	E327G	probably damaging	Het
Spen	C	T	4: 141,479,385	E644K	unknown	Het
Tarsl2	C	G	7: 65,658,924	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,218,675	I92T	probably damaging	Het
Tifab	A	G	13: 56,176,307	S108P	probably damaging	Het
Traf1	T	C	2: 34,948,233	N198D	probably benign	Het
Trim35	T	C	14: 66,309,205	Y474H	probably damaging	Het
Trim54	T	A	5: 31,137,161	D344E	probably benign	Het
Ttc28	A	T	5: 111,226,037	H1113L	probably damaging	Het
Vcam1	T	A	3: 116,114,562	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,268,385	T281S	probably benign	Het
Whrn	C	T	4: 63,431,959	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,726,876	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839	N2073K	probably benign	Het
Zgpat	T	A	2: 181,380,435	V163D		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
R0372:Lrrc27	UTSW	7	139226187	missense	probably benign	0.17
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
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'- ATTGATTTACTGGCCACTGCTG -3'
(R):5'- AGATTTGGCGGCAGCTCAAC -3'

Sequencing Primer
(F):5'- AGATGAACTCTGGTGCTCAGCTATC -3'
(R):5'- CTCCTTACTGGGCCATAT -3'

Posted On

2019-09-13