Mutagenetix > Incidental Mutation

Incidental Mutation 'R0302:Lrrc14'

24873

Institutional Source

Beutler Lab

Gene Symbol

Lrrc14

Ensembl Gene

ENSMUSG00000033728

Gene Name

leucine rich repeat containing 14

Synonyms

E130306I01Rik

MMRRC Submission

038514-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0302 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76594820-76599297 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76598552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 396 (R396L)

Ref Sequence

ENSEMBL: ENSMUSP00000115446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036423] [ENSMUST00000036852] [ENSMUST00000049956] [ENSMUST00000127208] [ENSMUST00000136840] [ENSMUST00000137649] [ENSMUST00000155735] [ENSMUST00000142610] [ENSMUST00000230544] [ENSMUST00000230724] [ENSMUST00000155225]

AlphaFold

Q8VC16

Predicted Effect

probably benign
Transcript: ENSMUST00000036423
AA Change: R396L

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728
AA Change: R396L

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036852

SMART Domains

Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762

Domain	Start	End	E-Value	Type
Pfam:Drc1-Sld2	4	132	2.8e-14	PFAM
low complexity region	169	187	N/A	INTRINSIC
low complexity region	368	379	N/A	INTRINSIC
ZnF_C2HC	394	410	5.67e-5	SMART
DEXDc	494	701	5.86e-28	SMART
HELICc	736	831	1.48e-24	SMART
Blast:DEXDc	902	1117	3e-46	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000049956

SMART Domains

Protein: ENSMUSP00000061906
Gene: ENSMUSG00000033707

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LRRNT	30	62	1.04e-2	SMART
LRR	61	80	3.18e2	SMART
LRR_TYP	81	104	2.99e-4	SMART
LRR	106	128	3.87e1	SMART
LRR_TYP	129	152	8.22e-2	SMART
LRR_TYP	153	176	5.06e-2	SMART
LRR	177	200	2.02e-1	SMART
LRRCT	212	266	2e-10	SMART
IGc2	280	360	1.02e-9	SMART
transmembrane domain	409	431	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127208
AA Change: R396L

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728
AA Change: R396L

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136840

SMART Domains

Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137649
AA Change: R396L

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728
AA Change: R396L

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138132

Predicted Effect

probably benign
Transcript: ENSMUST00000155735
AA Change: R396L

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728
AA Change: R396L

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229360

Predicted Effect

probably benign
Transcript: ENSMUST00000142610

SMART Domains

Protein: ENSMUSP00000117780
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000230544

Predicted Effect

probably benign
Transcript: ENSMUST00000230724

Predicted Effect

probably benign
Transcript: ENSMUST00000155225

Meta Mutation Damage Score

0.2273

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	T	C	4: 126,211,185 (GRCm39)	E244G	probably benign	Het
Aldh1l2	G	A	10: 83,356,229 (GRCm39)	P54S	probably damaging	Het
Ankdd1a	G	A	9: 65,416,924 (GRCm39)		probably benign	Het
Ankra2	T	A	13: 98,408,200 (GRCm39)	S216R	probably damaging	Het
Asah2	A	T	19: 32,030,356 (GRCm39)	N105K	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Cacna1s	A	G	1: 136,028,342 (GRCm39)	Y893C	probably benign	Het
Capza2	G	A	6: 17,648,523 (GRCm39)	R15H	probably benign	Het
Cbfa2t2	T	C	2: 154,376,796 (GRCm39)		probably benign	Het
Ccdc96	A	T	5: 36,643,445 (GRCm39)	T484S	possibly damaging	Het
Cckar	GCTTAGCCTCTTCT	GCT	5: 53,857,641 (GRCm39)		probably null	Het
Ccl4	T	A	11: 83,554,280 (GRCm39)		probably benign	Het
Cpt1b	A	G	15: 89,302,073 (GRCm39)	Y702H	probably benign	Het
Cr1l	G	A	1: 194,800,101 (GRCm39)	T153I	probably damaging	Het
Cyth2	C	A	7: 45,460,009 (GRCm39)	E57*	probably null	Het
Daxx	T	A	17: 34,132,594 (GRCm39)	S575T	probably damaging	Het
Depdc5	T	C	5: 33,061,890 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,521,956 (GRCm39)	D1923G	probably damaging	Het
Dnah7b	A	G	1: 46,162,937 (GRCm39)	T428A	probably benign	Het
Dnm2	G	T	9: 21,411,639 (GRCm39)	A619S	probably benign	Het
Enpp2	T	C	15: 54,723,457 (GRCm39)	T639A	probably benign	Het
Epsti1	A	T	14: 78,177,366 (GRCm39)	H182L	probably damaging	Het
Exoc3l	C	T	8: 106,020,175 (GRCm39)	R250Q	probably benign	Het
Ggn	G	T	7: 28,870,665 (GRCm39)		probably null	Het
Il1rap	A	G	16: 26,511,544 (GRCm39)	N196S	probably benign	Het
Ints6	T	C	14: 62,946,961 (GRCm39)	T335A	probably damaging	Het
Itga1	G	A	13: 115,148,854 (GRCm39)		probably benign	Het
Kifc3	G	T	8: 95,830,098 (GRCm39)	Q557K	possibly damaging	Het
Krt23	A	G	11: 99,369,027 (GRCm39)	I422T	probably benign	Het
Lcn2	A	G	2: 32,274,901 (GRCm39)		probably benign	Het
Lonp2	A	G	8: 87,364,619 (GRCm39)	T326A	possibly damaging	Het
Lrpprc	T	C	17: 85,047,506 (GRCm39)	I909V	possibly damaging	Het
Lypd6	T	G	2: 50,055,679 (GRCm39)		probably benign	Het
Man2b1	A	G	8: 85,819,645 (GRCm39)	N610S	probably damaging	Het
Map2	A	T	1: 66,453,987 (GRCm39)	N959I	probably benign	Het
Mctp2	C	T	7: 71,740,012 (GRCm39)	V793I	possibly damaging	Het
Med25	A	C	7: 44,529,982 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,616 (GRCm39)	Y83C	probably damaging	Het
Mtbp	A	T	15: 55,488,820 (GRCm39)	M499L	probably damaging	Het
Mtmr10	A	T	7: 63,947,245 (GRCm39)	K53N	probably damaging	Het
Nfat5	T	C	8: 108,085,333 (GRCm39)	I542T	probably damaging	Het
Nr1h3	A	G	2: 91,022,358 (GRCm39)	M90T	probably damaging	Het
Nsmce4a	A	G	7: 130,147,623 (GRCm39)		probably benign	Het
Oprl1	G	A	2: 181,361,021 (GRCm39)	C318Y	probably benign	Het
Or5d40	T	A	2: 88,015,854 (GRCm39)	I211N	possibly damaging	Het
Pbx3	A	T	2: 34,114,572 (GRCm39)	S46T	probably benign	Het
Pign	A	T	1: 105,516,818 (GRCm39)	F575I	possibly damaging	Het
Ptpn13	G	T	5: 103,713,091 (GRCm39)	S1738I	probably benign	Het
Rnf126	G	T	10: 79,595,057 (GRCm39)	P269Q	probably damaging	Het
Ryr3	G	A	2: 112,477,468 (GRCm39)		probably benign	Het
Slc2a7	C	T	4: 150,233,978 (GRCm39)	A31V	probably damaging	Het
Slc6a12	A	G	6: 121,340,218 (GRCm39)	D487G	probably damaging	Het
Son	G	T	16: 91,453,032 (GRCm39)	G593V	probably damaging	Het
Spata31d1a	T	C	13: 59,850,964 (GRCm39)	N388S	probably benign	Het
Spg11	A	T	2: 121,922,668 (GRCm39)	M927K	possibly damaging	Het
Taf13	A	G	3: 108,479,038 (GRCm39)	M1V	probably null	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trio	A	G	15: 27,902,603 (GRCm39)	F286S	probably damaging	Het
Trpm2	A	C	10: 77,779,824 (GRCm39)		probably benign	Het
Ttc7b	T	C	12: 100,353,438 (GRCm39)	M390V	possibly damaging	Het
Vmn1r184	A	T	7: 25,966,968 (GRCm39)	Q238L	probably damaging	Het
Zfp236	T	C	18: 82,676,213 (GRCm39)	E368G	probably damaging	Het
Zfr2	G	T	10: 81,087,170 (GRCm39)		probably benign	Het

Other mutations in Lrrc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02017:Lrrc14	APN	15	76,597,942 (GRCm39)	missense	probably damaging	0.99
IGL03213:Lrrc14	APN	15	76,597,983 (GRCm39)	missense	possibly damaging	0.95
Sojourn	UTSW	15	76,597,646 (GRCm39)	missense	possibly damaging	0.91
Sumo	UTSW	15	76,597,765 (GRCm39)	missense	probably benign	0.17
R2417:Lrrc14	UTSW	15	76,597,621 (GRCm39)	missense	probably damaging	1.00
R3423:Lrrc14	UTSW	15	76,597,318 (GRCm39)	splice site	probably null
R3930:Lrrc14	UTSW	15	76,597,765 (GRCm39)	missense	probably benign	0.17
R3931:Lrrc14	UTSW	15	76,597,765 (GRCm39)	missense	probably benign	0.17
R4622:Lrrc14	UTSW	15	76,600,540 (GRCm39)	unclassified	probably benign
R4863:Lrrc14	UTSW	15	76,597,562 (GRCm39)	splice site	probably null
R5290:Lrrc14	UTSW	15	76,598,143 (GRCm39)	missense	probably benign	0.17
R5451:Lrrc14	UTSW	15	76,598,173 (GRCm39)	missense	probably benign	0.01
R5950:Lrrc14	UTSW	15	76,599,510 (GRCm39)	unclassified	probably benign
R6561:Lrrc14	UTSW	15	76,597,646 (GRCm39)	missense	possibly damaging	0.91
R6609:Lrrc14	UTSW	15	76,598,453 (GRCm39)	missense	probably benign
R7341:Lrrc14	UTSW	15	76,598,711 (GRCm39)	missense	probably damaging	1.00
R7638:Lrrc14	UTSW	15	76,598,173 (GRCm39)	missense	probably benign	0.01
R8046:Lrrc14	UTSW	15	76,598,731 (GRCm39)	missense	possibly damaging	0.78
R8223:Lrrc14	UTSW	15	76,598,756 (GRCm39)	missense	probably damaging	1.00
R8393:Lrrc14	UTSW	15	76,598,398 (GRCm39)	missense	probably damaging	1.00
R8707:Lrrc14	UTSW	15	76,597,416 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAAAGCCTAGAACTGGCCTTCTGTG -3'
(R):5'- GTTGGTGTAACTCAGCTTCCACCC -3'

Sequencing Primer
(F):5'- TGCTGCCCATCTCAAAAAGTTG -3'
(R):5'- CGGGCAAACTTCTCCTCATTG -3'

Posted On

2013-04-16