Mutagenetix > Incidental Mutation

Incidental Mutation 'R2199:Lrrc39'

238547

Institutional Source

Beutler Lab

Gene Symbol

Lrrc39

Ensembl Gene

ENSMUSG00000027961

Gene Name

leucine rich repeat containing 39

Synonyms

2010005E21Rik, Myomasp, 9430028I06Rik

MMRRC Submission

040201-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

R2199 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116356622-116376783 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116364610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 167 (D167G)

Ref Sequence

ENSEMBL: ENSMUSP00000029573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029573]

AlphaFold

Q8BGI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029573
AA Change: D167G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029573
Gene: ENSMUSG00000027961
AA Change: D167G

Domain	Start	End	E-Value	Type
LRR	105	127	1.15e1	SMART
LRR_TYP	128	151	7.26e-3	SMART
LRR	175	197	6.58e0	SMART
LRR	198	220	1e1	SMART
LRR	221	243	7.16e0	SMART
LRR	244	267	6.58e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203327

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,554,598 (GRCm39)	I119V	probably benign	Het
Arfgap2	T	A	2: 91,096,037 (GRCm39)		probably null	Het
Ccm2	T	C	11: 6,540,790 (GRCm39)	V216A	probably damaging	Het
Ctdspl2	T	C	2: 121,817,510 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,283,527 (GRCm39)	T2769A	probably benign	Het
Dnah3	C	T	7: 119,550,792 (GRCm39)	V3165M	possibly damaging	Het
Dnajc1	A	C	2: 18,313,710 (GRCm39)	F137C	probably damaging	Het
Gli2	A	T	1: 118,765,378 (GRCm39)	D924E	possibly damaging	Het
Gnrhr	T	C	5: 86,345,677 (GRCm39)	N3S	probably benign	Het
Grhl1	G	T	12: 24,662,169 (GRCm39)	R536L	probably damaging	Het
Hormad1	T	C	3: 95,475,033 (GRCm39)		probably null	Het
Il20	T	A	1: 130,838,476 (GRCm39)	I74L	probably benign	Het
Ints11	A	G	4: 155,959,738 (GRCm39)	K115R	probably benign	Het
Irx4	A	T	13: 73,413,720 (GRCm39)	E63D	probably benign	Het
Itch	A	C	2: 155,044,141 (GRCm39)	Q482P	probably benign	Het
Kctd8	C	A	5: 69,498,588 (GRCm39)	M19I	probably benign	Het
Klhl31	T	C	9: 77,557,383 (GRCm39)	L33P	probably damaging	Het
Lrp1	A	T	10: 127,382,709 (GRCm39)	C3691S	probably damaging	Het
Lrrd1	A	T	5: 3,916,478 (GRCm39)	I832L	possibly damaging	Het
Lrriq1	A	G	10: 102,904,774 (GRCm39)	V1620A	probably damaging	Het
Ltbr	T	C	6: 125,289,024 (GRCm39)	K213E	probably benign	Het
Megf8	T	A	7: 25,039,039 (GRCm39)	D883E	possibly damaging	Het
Nherf2	T	C	17: 24,859,570 (GRCm39)	E174G	probably null	Het
Nmt1	T	A	11: 102,954,682 (GRCm39)	S405T	probably damaging	Het
Nsd3	G	T	8: 26,156,073 (GRCm39)	V547F	probably damaging	Het
Or4c110	A	G	2: 88,831,894 (GRCm39)	V246A	probably damaging	Het
Or7g16	C	A	9: 18,727,219 (GRCm39)	V124F	probably damaging	Het
Otud7a	A	G	7: 63,407,404 (GRCm39)	K569R	possibly damaging	Het
Otud7b	A	G	3: 96,063,089 (GRCm39)	Y776C	probably damaging	Het
Pcdh15	T	C	10: 74,006,341 (GRCm39)	I73T	probably damaging	Het
Rnf213	A	T	11: 119,350,835 (GRCm39)	H3890L	probably benign	Het
Sall3	T	C	18: 81,015,085 (GRCm39)	T948A	probably benign	Het
Slc44a3	T	C	3: 121,307,393 (GRCm39)	I198V	probably benign	Het
Smg7	C	A	1: 152,730,079 (GRCm39)	D405Y	probably damaging	Het
Synpo2l	A	G	14: 20,711,987 (GRCm39)	L211S	probably benign	Het
Thsd7b	A	G	1: 130,145,895 (GRCm39)	Y1601C	probably benign	Het
Traf4	T	C	11: 78,050,806 (GRCm39)	Y450C	probably damaging	Het
Trpv1	A	G	11: 73,131,077 (GRCm39)	K239E	probably damaging	Het
Ttn	C	T	2: 76,585,150 (GRCm39)	G20302S	probably damaging	Het
Ube2o	A	G	11: 116,435,571 (GRCm39)	S406P	probably benign	Het
Xrn2	C	T	2: 146,866,670 (GRCm39)	A80V	probably damaging	Het
Zfp616	C	T	11: 73,975,456 (GRCm39)	T575I	possibly damaging	Het

Other mutations in Lrrc39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Lrrc39	APN	3	116,364,630 (GRCm39)	splice site	probably benign
IGL01017:Lrrc39	APN	3	116,364,500 (GRCm39)	missense	probably benign	0.01
IGL01717:Lrrc39	APN	3	116,373,146 (GRCm39)	unclassified	probably benign
IGL01728:Lrrc39	APN	3	116,373,149 (GRCm39)	unclassified	probably benign
IGL02208:Lrrc39	APN	3	116,371,923 (GRCm39)	missense	probably damaging	1.00
IGL02801:Lrrc39	APN	3	116,371,995 (GRCm39)	missense	possibly damaging	0.89
R0279:Lrrc39	UTSW	3	116,371,952 (GRCm39)	missense	probably benign	0.19
R1351:Lrrc39	UTSW	3	116,359,469 (GRCm39)	missense	possibly damaging	0.51
R1436:Lrrc39	UTSW	3	116,373,293 (GRCm39)	splice site	probably null
R1641:Lrrc39	UTSW	3	116,364,562 (GRCm39)	missense	probably damaging	0.99
R1716:Lrrc39	UTSW	3	116,373,216 (GRCm39)	missense	probably benign	0.00
R2410:Lrrc39	UTSW	3	116,374,899 (GRCm39)	missense	probably benign	0.02
R4696:Lrrc39	UTSW	3	116,363,769 (GRCm39)	missense	probably damaging	1.00
R4816:Lrrc39	UTSW	3	116,362,515 (GRCm39)	critical splice donor site	probably null
R5076:Lrrc39	UTSW	3	116,373,189 (GRCm39)	missense	probably benign	0.37
R6152:Lrrc39	UTSW	3	116,364,624 (GRCm39)	critical splice donor site	probably null
R7124:Lrrc39	UTSW	3	116,359,562 (GRCm39)	missense	probably benign
R8855:Lrrc39	UTSW	3	116,363,790 (GRCm39)	missense	probably damaging	1.00
R8866:Lrrc39	UTSW	3	116,363,790 (GRCm39)	missense	probably damaging	1.00
R8941:Lrrc39	UTSW	3	116,359,496 (GRCm39)	missense	probably damaging	0.98
R9480:Lrrc39	UTSW	3	116,359,475 (GRCm39)	missense	probably benign	0.03
X0028:Lrrc39	UTSW	3	116,359,520 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGAATTTGCCAATGTGCAAG -3'
(R):5'- TCCTAATGAAAGATTTGCCTTCTGG -3'

Sequencing Primer
(F):5'- CTTGGTGGCAGGAAACACTGATC -3'
(R):5'- CAATCACATGCCTGAGGA -3'

Posted On

2014-10-02