Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Lrrc19'

177706

Institutional Source

Beutler Lab

Gene Symbol

Lrrc19

Ensembl Gene

ENSMUSG00000049799

Gene Name

leucine rich repeat containing 19

Synonyms

MMRRC Submission

039626-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94636653-94650144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94640950 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 32 (S32G)

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 benign
Transcript: ENSMUST00000053419
AA Change: S32G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056094
Gene: ENSMUSG00000049799
AA Change: S32G

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: S32G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102718
Gene: ENSMUSG00000049799
AA Change: S32G

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,441 (GRCm38)		probably benign	Het
Aadacl2	C	T	3: 60,010,576 (GRCm38)	T82I	probably benign	Het
Acadl	T	C	1: 66,853,223 (GRCm38)	N147S	probably benign	Het
Actr3	A	T	1: 125,408,563 (GRCm38)	M79K	probably damaging	Het
Agbl3	A	G	6: 34,857,517 (GRCm38)	S874G	possibly damaging	Het
Aoah	A	T	13: 21,002,948 (GRCm38)	T472S	probably damaging	Het
Asb16	A	T	11: 102,268,995 (GRCm38)	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575 (GRCm38)	D172G	probably benign	Het
Bax	T	C	7: 45,465,247 (GRCm38)	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,591,859 (GRCm38)	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,651,266 (GRCm38)		probably benign	Het
Cand1	A	G	10: 119,213,566 (GRCm38)	L425P	probably damaging	Het
Caskin1	G	A	17: 24,505,478 (GRCm38)		probably null	Het
Cd248	C	T	19: 5,069,932 (GRCm38)	P603S	probably benign	Het
Cep95	G	T	11: 106,800,104 (GRCm38)	R143L	probably benign	Het
Clptm1l	G	T	13: 73,614,673 (GRCm38)		probably null	Het
Cntnap5a	T	C	1: 116,060,200 (GRCm38)	F154L	possibly damaging	Het
Cyld	A	T	8: 88,709,990 (GRCm38)	I303F	possibly damaging	Het
Dock2	A	G	11: 34,706,461 (GRCm38)	S370P	probably damaging	Het
Enah	G	T	1: 181,922,293 (GRCm38)	T327K	probably damaging	Het
Farp2	A	T	1: 93,579,860 (GRCm38)	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,733,612 (GRCm38)	T301M	probably damaging	Het
Foxc2	A	T	8: 121,117,176 (GRCm38)	T188S	probably benign	Het
Fzd2	A	G	11: 102,606,328 (GRCm38)	T533A	probably benign	Het
Glb1l2	G	T	9: 26,769,038 (GRCm38)	S248*	probably null	Het
Glul	A	T	1: 153,905,538 (GRCm38)		probably benign	Het
Gm28042	A	G	2: 120,041,406 (GRCm38)	T946A	probably benign	Het
Golga3	T	A	5: 110,181,783 (GRCm38)	D2E	probably damaging	Het
Grm1	A	T	10: 10,719,967 (GRCm38)	F639Y	probably benign	Het
Gzmn	A	G	14: 56,165,911 (GRCm38)	L247P	probably benign	Het
Hgf	T	G	5: 16,613,785 (GRCm38)	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,831,332 (GRCm38)	D719E	probably benign	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Itga9	T	C	9: 118,607,117 (GRCm38)		probably null	Het
Itgb1	T	A	8: 128,705,458 (GRCm38)	C16S	probably damaging	Het
Itgb1	G	T	8: 128,705,459 (GRCm38)	C16F	possibly damaging	Het
Kat14	A	G	2: 144,394,100 (GRCm38)	I251V	probably benign	Het
Kdsr	A	T	1: 106,734,541 (GRCm38)		probably null	Het
Kif12	T	A	4: 63,166,500 (GRCm38)	E527V	probably benign	Het
Larp1b	T	C	3: 41,033,474 (GRCm38)	S44P	probably damaging	Het
Lonp2	T	C	8: 86,673,072 (GRCm38)		probably benign	Het
Lrp1	C	T	10: 127,605,606 (GRCm38)	S216N	probably benign	Het
Mdm2	G	A	10: 117,690,529 (GRCm38)	T335M	probably benign	Het
Mettl25	A	G	10: 105,779,632 (GRCm38)	Y504H	probably damaging	Het
Mill1	T	C	7: 18,245,647 (GRCm38)	I13T	probably benign	Het
Mmachc	T	A	4: 116,703,524 (GRCm38)	Q258L	probably benign	Het
Mpdz	T	A	4: 81,421,176 (GRCm38)	I5L	probably benign	Het
Mrps2	C	T	2: 28,469,488 (GRCm38)	A119V	probably benign	Het
Mtcl2	A	T	2: 157,027,637 (GRCm38)	M1026K	probably benign	Het
Mtmr11	A	G	3: 96,168,113 (GRCm38)	T370A	probably benign	Het
Nmi	T	C	2: 51,958,977 (GRCm38)	I34V	possibly damaging	Het
Obscn	A	T	11: 59,036,075 (GRCm38)	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,325,865 (GRCm38)	I24T	probably benign	Het
Omp	G	T	7: 98,145,359 (GRCm38)	D20E	probably benign	Het
Or2ag19	A	G	7: 106,845,196 (GRCm38)	Y195C	possibly damaging	Het
Or52e8b	A	G	7: 105,024,560 (GRCm38)	V140A	probably benign	Het
Or5b120	C	T	19: 13,502,757 (GRCm38)	T138M	probably benign	Het
Or6c69	A	G	10: 129,911,681 (GRCm38)	V199A	probably benign	Het
Otog	A	G	7: 46,283,908 (GRCm38)	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,423,292 (GRCm38)	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,463,986 (GRCm38)	I481V	probably benign	Het
Rbp3	A	T	14: 33,955,792 (GRCm38)	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,905,529 (GRCm38)	D125G	probably benign	Het
Scn11a	A	G	9: 119,769,807 (GRCm38)	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,674,381 (GRCm38)	G264D	probably benign	Het
Slc4a10	T	C	2: 62,257,462 (GRCm38)	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,845,447 (GRCm38)	V8I	probably benign	Het
Spen	T	C	4: 141,488,024 (GRCm38)	D499G	unknown	Het
Stk32c	A	G	7: 139,119,015 (GRCm38)		probably null	Het
Tars1	A	G	15: 11,388,175 (GRCm38)	V485A	probably benign	Het
Tcerg1l	A	G	7: 138,361,767 (GRCm38)	L258P	probably damaging	Het
Tmc2	A	T	2: 130,247,960 (GRCm38)	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,354,706 (GRCm38)	N220K	probably damaging	Het
Tnni3	T	C	7: 4,520,526 (GRCm38)	D146G	probably damaging	Het
Trappc11	G	T	8: 47,501,680 (GRCm38)	D908E	probably damaging	Het
Trappc8	A	G	18: 20,863,551 (GRCm38)	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,776,390 (GRCm38)	V1176I	probably benign	Het
Ube2b	A	G	11: 51,997,872 (GRCm38)	V24A	probably benign	Het
Usp30	T	C	5: 114,112,961 (GRCm38)	C233R	probably damaging	Het
Vmn1r87	T	A	7: 13,131,776 (GRCm38)	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,806,520 (GRCm38)		probably benign	Het
Vmn2r81	C	A	10: 79,293,024 (GRCm38)	T583N	probably damaging	Het
Vwa8	C	T	14: 78,908,230 (GRCm38)	R116C	probably damaging	Het
Wdr1	C	A	5: 38,529,972 (GRCm38)	V239L	probably benign	Het
Wdr17	C	T	8: 54,703,907 (GRCm38)		probably benign	Het
Zfhx4	A	C	3: 5,241,729 (GRCm38)	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,171,745 (GRCm38)		probably null	Het

Other mutations in Lrrc19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01640:Lrrc19	APN	4	94,638,508 (GRCm38)	missense	probably damaging	0.99
IGL02585:Lrrc19	APN	4	94,643,325 (GRCm38)	missense	probably benign	0.00
R0087:Lrrc19	UTSW	4	94,640,772 (GRCm38)	missense	probably damaging	1.00
R0629:Lrrc19	UTSW	4	94,638,252 (GRCm38)	missense	probably damaging	1.00
R1172:Lrrc19	UTSW	4	94,638,389 (GRCm38)	nonsense	probably null
R1572:Lrrc19	UTSW	4	94,638,429 (GRCm38)	missense	probably damaging	1.00
R1576:Lrrc19	UTSW	4	94,639,353 (GRCm38)	missense	probably damaging	1.00
R2107:Lrrc19	UTSW	4	94,639,294 (GRCm38)	missense	probably benign
R4734:Lrrc19	UTSW	4	94,638,349 (GRCm38)	missense	probably benign	0.01
R4932:Lrrc19	UTSW	4	94,640,937 (GRCm38)	missense	probably damaging	1.00
R6079:Lrrc19	UTSW	4	94,643,343 (GRCm38)	missense	probably benign	0.17
R6969:Lrrc19	UTSW	4	94,639,373 (GRCm38)	missense	probably benign	0.44
R7293:Lrrc19	UTSW	4	94,638,390 (GRCm38)	missense	probably benign	0.07
R7596:Lrrc19	UTSW	4	94,643,355 (GRCm38)	missense	probably benign
R7914:Lrrc19	UTSW	4	94,638,300 (GRCm38)	missense	probably damaging	0.97
R8333:Lrrc19	UTSW	4	94,639,350 (GRCm38)	missense	probably benign	0.03
R9468:Lrrc19	UTSW	4	94,638,284 (GRCm38)	missense	probably benign	0.03
R9484:Lrrc19	UTSW	4	94,643,336 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGTCACATTAGACGTGTTCAGCCAG -3'
(R):5'- GCTCTCCCTAAGTGGTTGCATCAG -3'

Sequencing Primer
(F):5'- AGGCGTATCAAATTGCCTTGC -3'
(R):5'- AGTGGTTGCATCAGAATCTCC -3'

Posted On

2014-04-24