Mutagenetix > Incidental Mutation

Incidental Mutation 'R8333:Lrrc19'

644468

Institutional Source

Beutler Lab

Gene Symbol

Lrrc19

Ensembl Gene

ENSMUSG00000049799

Gene Name

leucine rich repeat containing 19

Synonyms

9130022A01Rik

MMRRC Submission

067861-MU

Accession Numbers

Essential gene?

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

Stock #

R8333 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94524890-94538381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94527587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 208 (D208V)

Ref Sequence

ENSEMBL: ENSMUSP00000056094 (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 benign
Transcript: ENSMUST00000053419
AA Change: D208V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000056094
Gene: ENSMUSG00000049799
AA Change: D208V

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 benign
Transcript: ENSMUST00000107101
AA Change: D208V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102718
Gene: ENSMUSG00000049799
AA Change: D208V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo2	T	C	15: 97,143,166 (GRCm39)	T419A	probably damaging	Het
Baiap2l1	A	C	5: 144,217,691 (GRCm39)	I298M	possibly damaging	Het
BC005624	G	T	2: 30,863,748 (GRCm39)	A245D	probably benign	Het
Cdh23	T	A	10: 60,150,390 (GRCm39)	I2527F	probably damaging	Het
Celsr1	T	C	15: 85,915,615 (GRCm39)	H786R	possibly damaging	Het
Cerkl	A	G	2: 79,168,922 (GRCm39)	V427A	possibly damaging	Het
Cfap43	G	T	19: 47,885,765 (GRCm39)	C283*	probably null	Het
Chfr	G	A	5: 110,302,803 (GRCm39)	A455T	probably benign	Het
Cldn13	T	A	5: 134,943,850 (GRCm39)	I112F	possibly damaging	Het
Cyb5rl	T	A	4: 106,925,875 (GRCm39)	V19E	probably benign	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dlgap2	T	A	8: 14,828,295 (GRCm39)	C568S	probably benign	Het
Ecm2	T	C	13: 49,671,859 (GRCm39)	L120P	probably damaging	Het
Gpr156	T	C	16: 37,812,416 (GRCm39)	S251P	probably damaging	Het
Gpr182	T	C	10: 127,585,790 (GRCm39)	N387S	probably benign	Het
Grid1	T	C	14: 35,291,595 (GRCm39)	V834A	possibly damaging	Het
Igkv8-34	T	C	6: 70,021,337 (GRCm39)	S42G	probably benign	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lrrc9	C	T	12: 72,528,317 (GRCm39)	T872I	probably benign	Het
Macf1	T	C	4: 123,279,245 (GRCm39)		probably null	Het
Mrpl13	A	G	15: 55,420,679 (GRCm39)	M1T	probably null	Het
Ncapg	C	T	5: 45,831,805 (GRCm39)	T217I	probably damaging	Het
Nim1k	G	A	13: 120,174,022 (GRCm39)	P291S	probably damaging	Het
Or8c11	G	A	9: 38,289,912 (GRCm39)	G239D	probably damaging	Het
Or8k31-ps1	A	T	2: 86,356,415 (GRCm39)	Y35*	probably null	Het
Padi6	T	C	4: 140,464,687 (GRCm39)	M181V	probably damaging	Het
Pax7	T	A	4: 139,557,514 (GRCm39)	I86F	probably damaging	Het
Pbk	T	A	14: 66,054,680 (GRCm39)	Y271N	probably benign	Het
Rabgap1	C	T	2: 37,385,710 (GRCm39)	P492L	probably benign	Het
Rhno1	G	T	6: 128,334,728 (GRCm39)	D198E	probably damaging	Het
Scn2a	A	C	2: 65,514,191 (GRCm39)	I292L	probably benign	Het
Slc40a1	T	C	1: 45,950,439 (GRCm39)	S338G	probably damaging	Het
Slc45a3	A	G	1: 131,905,928 (GRCm39)	Y317C	probably damaging	Het
Stard9	T	A	2: 120,532,270 (GRCm39)	S2842R	probably benign	Het
Tle2	C	T	10: 81,413,518 (GRCm39)	T119I	probably damaging	Het
Ttn	C	T	2: 76,553,938 (GRCm39)	V30922I	possibly damaging	Het
Usp33	C	T	3: 152,080,297 (GRCm39)	P476L	probably damaging	Het
Wdr38	T	C	2: 38,889,361 (GRCm39)	Y51H	probably damaging	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
R1576:Lrrc19	UTSW	4	94,527,590 (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
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'- TTCGTACCGATACCTTCAGCAATAG -3'
(R):5'- TGACATGCAAACTGAGTCACTATC -3'

Sequencing Primer
(F):5'- CCGATACCTTCAGCAATAGTAATATC -3'
(R):5'- GCACCATATGTATACCTGGTGACTG -3'

Posted On

2020-09-02