Mutagenetix > Incidental Mutation

Incidental Mutation 'R1576:Lrrc19'

171153

Institutional Source

Beutler Lab

Gene Symbol

Lrrc19

Ensembl Gene

ENSMUSG00000049799

Gene Name

leucine rich repeat containing 19

Synonyms

9130022A01Rik

MMRRC Submission

039614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1576 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94524890-94538381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94527590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 207 (P207L)

Ref Sequence

ENSEMBL: ENSMUSP00000102718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030311] [ENSMUST00000053419] [ENSMUST00000107101] [ENSMUST00000107104]

AlphaFold

Q8BZT5

Predicted Effect

probably benign
Transcript: ENSMUST00000030311

SMART Domains

Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
low complexity region	47	62	N/A	INTRINSIC
coiled coil region	98	271	N/A	INTRINSIC
coiled coil region	302	382	N/A	INTRINSIC
coiled coil region	430	490	N/A	INTRINSIC
coiled coil region	512	546	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000053419
AA Change: P207L

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

SMART Domains

Protein: ENSMUSP00000056094
Gene: ENSMUSG00000049799
AA Change: P207L

Domain	Start	End	E-Value	Type
LRR	69	93	3.36e2	SMART
LRR	94	117	4.32e0	SMART
LRR	118	141	1.71e1	SMART
LRR	142	166	1.09e2	SMART
LRRCT	174	225	1.24e-6	SMART
Pfam:LRR19-TM	250	364	8.1e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107101
AA Change: P207L

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

SMART Domains

Protein: ENSMUSP00000102718
Gene: ENSMUSG00000049799
AA Change: P207L

Domain	Start	End	E-Value	Type
LRR	69	93	3.36e2	SMART
LRR	94	117	4.32e0	SMART
LRR	118	141	1.71e1	SMART
LRR	142	166	1.09e2	SMART
LRRCT	174	225	1.24e-6	SMART
Pfam:LRR19-TM	245	364	9.3e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107104

SMART Domains

Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
low complexity region	47	62	N/A	INTRINSIC
coiled coil region	98	271	N/A	INTRINSIC
coiled coil region	302	352	N/A	INTRINSIC

Meta Mutation Damage Score

0.5920

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	G	A	8: 23,298,483 (GRCm39)		probably benign	Het
Apol11a	T	A	15: 77,401,131 (GRCm39)	I206N	probably damaging	Het
Arfgap3	A	G	15: 83,197,764 (GRCm39)	S331P	possibly damaging	Het
Arhgef16	A	C	4: 154,375,769 (GRCm39)	L75R	probably damaging	Het
Cfi	T	C	3: 129,666,699 (GRCm39)	V474A	probably damaging	Het
Dhx8	T	C	11: 101,643,145 (GRCm39)	V739A	probably damaging	Het
Dpy19l2	T	A	9: 24,495,798 (GRCm39)	H640L	probably benign	Het
Eif4g3	T	A	4: 137,824,181 (GRCm39)	M57K	probably damaging	Het
Emilin2	A	G	17: 71,562,112 (GRCm39)		probably null	Het
Epc1	T	C	18: 6,452,366 (GRCm39)	E281G	possibly damaging	Het
Fancd2	G	T	6: 113,555,366 (GRCm39)	S1125I	probably damaging	Het
Fh1	G	A	1: 175,435,385 (GRCm39)	P366L	probably null	Het
Gata3	A	T	2: 9,868,007 (GRCm39)	S316T	probably damaging	Het
Hmcn1	A	T	1: 150,532,992 (GRCm39)	S3064T	possibly damaging	Het
Inpp5d	A	T	1: 87,597,407 (GRCm39)	T193S	probably benign	Het
Inpp5d	A	T	1: 87,609,280 (GRCm39)	I277F	probably damaging	Het
Itga5	T	C	15: 103,260,044 (GRCm39)	D616G	probably damaging	Het
Jade1	T	A	3: 41,546,242 (GRCm39)	V89E	probably damaging	Het
Lamb2	T	C	9: 108,357,506 (GRCm39)	S81P	probably damaging	Het
Maea	A	G	5: 33,520,040 (GRCm39)	D147G	probably damaging	Het
Muc6	T	A	7: 141,214,437 (GRCm39)	E2767V	possibly damaging	Het
Myom2	A	G	8: 15,134,556 (GRCm39)	Y453C	probably damaging	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Nap1l1	A	G	10: 111,330,681 (GRCm39)	D362G	probably damaging	Het
Nap1l4	C	T	7: 143,091,953 (GRCm39)		probably null	Het
Nudt21	A	C	8: 94,755,461 (GRCm39)		probably null	Het
Nufip1	A	G	14: 76,372,310 (GRCm39)	N475D	probably benign	Het
Pcdhb8	A	G	18: 37,489,756 (GRCm39)	D478G	probably damaging	Het
Pla2g4d	A	G	2: 120,114,648 (GRCm39)	S28P	probably damaging	Het
Polr2j	C	A	5: 136,148,882 (GRCm39)	N29K	probably damaging	Het
Ppp2r2a	A	G	14: 67,276,318 (GRCm39)		probably benign	Het
Ptprk	A	G	10: 28,427,647 (GRCm39)	D742G	probably damaging	Het
Pum2	A	G	12: 8,763,524 (GRCm39)	D227G	probably benign	Het
Rfxank	C	A	8: 70,586,953 (GRCm39)	R221L	possibly damaging	Het
Shank3	C	A	15: 89,387,866 (GRCm39)	Q317K	probably benign	Het
Slc22a17	A	G	14: 55,145,447 (GRCm39)	V460A	probably damaging	Het
Slc39a11	G	T	11: 113,450,361 (GRCm39)	D41E	probably damaging	Het
Spag17	T	C	3: 99,846,679 (GRCm39)	S68P	possibly damaging	Het
Sstr5	C	T	17: 25,710,272 (GRCm39)	C319Y	possibly damaging	Het
Stk17b	G	T	1: 53,796,749 (GRCm39)	D339E	probably damaging	Het
Tagln2	A	G	1: 172,332,788 (GRCm39)	D25G	probably benign	Het
Ttn	C	T	2: 76,625,194 (GRCm39)	V13417I	probably benign	Het
Vps50	A	G	6: 3,545,568 (GRCm39)	E334G	possibly damaging	Het
Zfp316	T	C	5: 143,249,849 (GRCm39)	E138G	unknown	Het
Zfp879	T	A	11: 50,724,376 (GRCm39)	T227S	probably benign	Het

Other mutations in Lrrc19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01640:Lrrc19	APN	4	94,526,745 (GRCm39)	missense	probably damaging	0.99
IGL02585:Lrrc19	APN	4	94,531,562 (GRCm39)	missense	probably benign	0.00
R0087:Lrrc19	UTSW	4	94,529,009 (GRCm39)	missense	probably damaging	1.00
R0629:Lrrc19	UTSW	4	94,526,489 (GRCm39)	missense	probably damaging	1.00
R1172:Lrrc19	UTSW	4	94,526,626 (GRCm39)	nonsense	probably null
R1572:Lrrc19	UTSW	4	94,526,666 (GRCm39)	missense	probably damaging	1.00
R1589:Lrrc19	UTSW	4	94,529,187 (GRCm39)	missense	probably benign	0.24
R2107:Lrrc19	UTSW	4	94,527,531 (GRCm39)	missense	probably benign
R4734:Lrrc19	UTSW	4	94,526,586 (GRCm39)	missense	probably benign	0.01
R4932:Lrrc19	UTSW	4	94,529,174 (GRCm39)	missense	probably damaging	1.00
R6079:Lrrc19	UTSW	4	94,531,580 (GRCm39)	missense	probably benign	0.17
R6969:Lrrc19	UTSW	4	94,527,610 (GRCm39)	missense	probably benign	0.44
R7293:Lrrc19	UTSW	4	94,526,627 (GRCm39)	missense	probably benign	0.07
R7596:Lrrc19	UTSW	4	94,531,592 (GRCm39)	missense	probably benign
R7914:Lrrc19	UTSW	4	94,526,537 (GRCm39)	missense	probably damaging	0.97
R8333:Lrrc19	UTSW	4	94,527,587 (GRCm39)	missense	probably benign	0.03
R9468:Lrrc19	UTSW	4	94,526,521 (GRCm39)	missense	probably benign	0.03
R9484:Lrrc19	UTSW	4	94,531,573 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCACATGGCATCTAATTGAGCATGG -3'
(R):5'- ACGTTGACATGCAAACTGAGTCACT -3'

Sequencing Primer
(F):5'- GAACAGTATGTTTCGTACCGATACC -3'
(R):5'- tgactgcaagttcagaagagg -3'

Posted On

2014-04-13