Mutagenetix > Incidental Mutation

Incidental Mutation 'V8831:Lrrc72'

44627

Institutional Source

Beutler Lab

Gene Symbol

Lrrc72

Ensembl Gene

ENSMUSG00000020545

Gene Name

leucine rich repeat containing 72

Synonyms

4933421E18Rik, 1700108M19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

V8831 () of strain 710

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36258344-36303397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36258656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 67 (T67K)

Ref Sequence

ENSEMBL: ENSMUSP00000020853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020853] [ENSMUST00000122115] [ENSMUST00000221155]

AlphaFold

A0A1Y7VMI0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020853
AA Change: T67K

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000122115

SMART Domains

Protein: ENSMUSP00000113517
Gene: ENSMUSG00000020545

Domain	Start	End	E-Value	Type
Pfam:LRR_9	1	69	6.6e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152817

Predicted Effect

probably benign
Transcript: ENSMUST00000221155
AA Change: T249K

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222145

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsa1	A	G	12: 87,316,697 (GRCm39)	N107S	probably damaging	Het
Arhgap23	A	G	11: 97,347,371 (GRCm39)	I690V	probably benign	Het
Bard1	G	A	1: 71,127,376 (GRCm39)	P78S	probably damaging	Het
Ccar1	G	A	10: 62,583,185 (GRCm39)	T976I	unknown	Het
Cdc7	T	A	5: 107,116,776 (GRCm39)	N50K	probably benign	Het
Cep85	C	T	4: 133,883,380 (GRCm39)	E170K	possibly damaging	Het
Cpsf2	C	T	12: 101,969,400 (GRCm39)	R757C	probably damaging	Het
Csmd3	A	T	15: 48,321,092 (GRCm39)	D239E	probably damaging	Het
Dnah7b	T	G	1: 46,412,458 (GRCm39)	Y4022*	probably null	Het
Elmo3	A	G	8: 106,033,693 (GRCm39)	N179S	probably benign	Het
H2bc11	G	C	13: 22,227,451 (GRCm39)		probably benign	Het
H2-T24	T	A	17: 36,328,216 (GRCm39)	Q89L	probably damaging	Het
Irak4	T	C	15: 94,459,365 (GRCm39)	I327T	probably damaging	Het
Itpr2	A	T	6: 146,287,380 (GRCm39)	L157Q	probably damaging	Het
Lama1	G	A	17: 68,059,878 (GRCm39)	D656N	probably benign	Het
Map2	T	G	1: 66,455,004 (GRCm39)	I1298S	probably damaging	Het
Mroh2a	T	TN	1: 88,183,889 (GRCm39)		probably null	Het
Ndst1	G	A	18: 60,835,999 (GRCm39)	A428V	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Or2w1b	T	C	13: 21,300,173 (GRCm39)	Y104H	possibly damaging	Het
Or5k14	G	T	16: 58,693,438 (GRCm39)	T25K	probably benign	Het
Or5p4	C	T	7: 107,680,742 (GRCm39)	A247V	probably benign	Het
Plxna1	A	G	6: 89,334,119 (GRCm39)	V170A	probably damaging	Het
Rfx6	G	A	10: 51,594,304 (GRCm39)		probably null	Het
Shprh	G	A	10: 11,062,606 (GRCm39)	D1238N	probably damaging	Het
Slc15a2	A	G	16: 36,772,445 (GRCm38)	M179T	probably benign	Het
Slc9c1	A	T	16: 45,398,262 (GRCm39)	I676F	possibly damaging	Het
Smoc1	A	G	12: 81,215,029 (GRCm39)	D305G	probably damaging	Het
Spdef	C	T	17: 27,937,051 (GRCm39)	R184H	probably damaging	Het
Stxbp4	C	T	11: 90,371,497 (GRCm39)	A535T	probably benign	Het
Tcp11l1	C	G	2: 104,515,829 (GRCm39)	V345L	probably benign	Het
Ticam1	TC	T	17: 56,576,969 (GRCm39)	708	probably null	Het
Ttc28	A	T	5: 111,248,578 (GRCm39)	Y177F	probably benign	Het
Ugt2b34	A	T	5: 87,054,533 (GRCm39)	Y83N	probably benign	Het
Vmn2r30	G	A	7: 7,337,148 (GRCm39)	R163C	probably benign	Het
Xirp1	T	G	9: 120,016,907 (GRCm38)	Q970P	probably benign	Het

Other mutations in Lrrc72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Lrrc72	APN	12	36,271,507 (GRCm39)	missense	probably benign	0.01
IGL01573:Lrrc72	APN	12	36,262,561 (GRCm39)	splice site	probably null
R1905:Lrrc72	UTSW	12	36,258,661 (GRCm39)	splice site	probably null
R3754:Lrrc72	UTSW	12	36,262,567 (GRCm39)	missense	probably benign	0.04
R4429:Lrrc72	UTSW	12	36,258,623 (GRCm39)	missense	probably damaging	1.00
R6263:Lrrc72	UTSW	12	36,258,603 (GRCm39)	nonsense	probably null
R6895:Lrrc72	UTSW	12	36,259,717 (GRCm39)	missense	probably damaging	0.99
R7263:Lrrc72	UTSW	12	36,258,611 (GRCm39)	missense	probably damaging	1.00
R7410:Lrrc72	UTSW	12	36,272,803 (GRCm39)	missense	probably damaging	1.00
R7452:Lrrc72	UTSW	12	36,262,692 (GRCm39)	missense	probably benign	0.11
R8217:Lrrc72	UTSW	12	36,258,676 (GRCm39)	missense	probably damaging	1.00
R8728:Lrrc72	UTSW	12	36,258,656 (GRCm39)	missense	probably benign	0.03
R8973:Lrrc72	UTSW	12	36,303,293 (GRCm39)	missense	probably benign
R9747:Lrrc72	UTSW	12	36,264,371 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrrc72	UTSW	12	36,297,692 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAACGAGTGAGCGAACAGCACC -3'
(R):5'- TGGCCTGAAAGCCATGTCAGTAAAG -3'

Sequencing Primer
(F):5'- CGTTACCGCAGGGAAATCAT -3'
(R):5'- GAAGTATATGGTCCTGGTCACCAC -3'

Posted On

2013-06-11