Mutagenetix > Incidental Mutation

Incidental Mutation 'R5699:Lrrc26'

446542

Institutional Source

Beutler Lab

Gene Symbol

Lrrc26

Ensembl Gene

ENSMUSG00000026961

Gene Name

leucine rich repeat containing 26

Synonyms

MMRRC Submission

043327-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R5699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25179927-25181192 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25180536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 179 (L179Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028335] [ENSMUST00000028337] [ENSMUST00000028340] [ENSMUST00000028341] [ENSMUST00000114307] [ENSMUST00000114308] [ENSMUST00000114310] [ENSMUST00000114312] [ENSMUST00000114314] [ENSMUST00000114317] [ENSMUST00000114318]

AlphaFold

Q91W20

Predicted Effect

probably benign
Transcript: ENSMUST00000028335

SMART Domains

Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	357	6.6e-35	PFAM
PBPe	433	795	2.71e-97	SMART
Lig_chan-Glu_bd	439	507	2.99e-18	SMART
Pfam:CaM_bdg_C0	835	863	1.5e-18	PFAM
PDB:3BYA\|B	875	898	4e-6	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000028337
AA Change: L179Q

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

SMART Domains

Protein: ENSMUSP00000028337
Gene: ENSMUSG00000026961
AA Change: L179Q

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LRRNT	42	75	1.86e0	SMART
LRR	72	93	7.57e0	SMART
LRR	95	117	6.96e0	SMART
LRR_TYP	118	141	1e-5	SMART
LRR	142	165	6.22e0	SMART
LRR	166	189	2.86e-1	SMART
LRRCT	201	254	3.01e-5	SMART
transmembrane domain	267	289	N/A	INTRINSIC
low complexity region	293	308	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000028340

SMART Domains

Protein: ENSMUSP00000028340
Gene: ENSMUSG00000026963

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:TMEM210	32	144	1.1e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028341

SMART Domains

Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	123	133	N/A	INTRINSIC
low complexity region	153	164	N/A	INTRINSIC
low complexity region	221	229	N/A	INTRINSIC
low complexity region	456	467	N/A	INTRINSIC
CULLIN	515	663	6.72e-9	SMART
APC2	772	832	3.67e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114307

SMART Domains

Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	357	1e-34	PFAM
PBPe	433	795	2.71e-97	SMART
Lig_chan-Glu_bd	439	507	2.99e-18	SMART
Pfam:CaM_bdg_C0	835	863	3.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114308

SMART Domains

Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	378	8e-31	PFAM
PBPe	454	816	2.71e-97	SMART
Lig_chan-Glu_bd	460	528	2.99e-18	SMART
Pfam:CaM_bdg_C0	856	884	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114310

SMART Domains

Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	39	299	3.6e-24	PFAM
Blast:PBPe	352	420	9e-37	BLAST
PBPe	454	816	2.71e-97	SMART
Lig_chan-Glu_bd	460	528	2.99e-18	SMART
Pfam:CaM_bdg_C0	856	884	8.4e-17	PFAM
PDB:3BYA\|B	896	919	4e-6	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144102

Predicted Effect

probably benign
Transcript: ENSMUST00000114312

SMART Domains

Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	357	5.9e-35	PFAM
PBPe	433	795	2.71e-97	SMART
Lig_chan-Glu_bd	439	507	2.99e-18	SMART
Pfam:CaM_bdg_C0	835	863	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114314

SMART Domains

Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	357	1.1e-34	PFAM
PBPe	433	795	2.71e-97	SMART
Lig_chan-Glu_bd	439	507	2.99e-18	SMART
Pfam:CaM_bdg_C0	835	863	3.3e-19	PFAM
PDB:3BYA\|B	875	898	4e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114317

SMART Domains

Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	378	7.7e-31	PFAM
PBPe	454	816	2.71e-97	SMART
Lig_chan-Glu_bd	460	528	2.99e-18	SMART
Pfam:CaM_bdg_C0	856	884	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114318

SMART Domains

Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	378	8.4e-31	PFAM
PBPe	454	816	2.71e-97	SMART
Lig_chan-Glu_bd	460	528	2.99e-18	SMART
Pfam:CaM_bdg_C0	856	884	3.4e-19	PFAM
PDB:3BYA\|B	896	919	4e-6	PDB

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: The gene product is part of BK ion channels in secretory epithelial cells. Homozygous knockout results in significantly reduced K+ efflux from salivary glands. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,225,320 (GRCm39)		noncoding transcript	Het
4930486L24Rik	A	G	13: 61,001,410 (GRCm39)	F106L	possibly damaging	Het
Adam11	A	T	11: 102,664,466 (GRCm39)	M385L	probably benign	Het
Adgre1	C	T	17: 57,788,007 (GRCm39)	P925S	probably benign	Het
Adh7	G	A	3: 137,932,087 (GRCm39)	A234T	probably benign	Het
Ano2	A	G	6: 125,849,703 (GRCm39)	E475G	probably damaging	Het
C2cd4c	A	G	10: 79,448,385 (GRCm39)	V254A	probably benign	Het
Car13	A	G	3: 14,715,749 (GRCm39)	Y89C	probably damaging	Het
Cd38	A	G	5: 44,057,728 (GRCm39)	K100R	probably damaging	Het
Cdh11	A	G	8: 103,361,175 (GRCm39)	I721T	probably damaging	Het
Cdh2	G	A	18: 16,779,579 (GRCm39)	Q161*	probably null	Het
Clk1	T	C	1: 58,459,354 (GRCm39)	K135R	probably damaging	Het
Col5a1	G	A	2: 27,887,611 (GRCm39)	G961R	unknown	Het
Cpt1b	T	A	15: 89,308,476 (GRCm39)	I151F	probably benign	Het
Cyp51	A	G	5: 4,151,213 (GRCm39)	F139L	probably damaging	Het
Disp1	TTGA	T	1: 182,870,119 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,029,298 (GRCm39)	I4089T	probably benign	Het
Dnali1	C	T	4: 124,952,843 (GRCm39)	V227M	possibly damaging	Het
Eml4	T	G	17: 83,717,514 (GRCm39)	S29A	probably benign	Het
Eps8l3	C	A	3: 107,786,895 (GRCm39)	P24T	probably benign	Het
Fancc	A	T	13: 63,478,446 (GRCm39)		probably null	Het
Firrm	A	T	1: 163,785,120 (GRCm39)	V753D	probably benign	Het
Grid2	G	A	6: 63,885,975 (GRCm39)	A124T	probably damaging	Het
Ikbke	C	T	1: 131,204,204 (GRCm39)		probably null	Het
Kyat1	G	A	2: 30,076,662 (GRCm39)	A284V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmbrd2	G	T	15: 9,175,269 (GRCm39)	L393F	probably benign	Het
Mlx	A	G	11: 100,979,520 (GRCm39)	D113G	possibly damaging	Het
Myod1	A	G	7: 46,026,407 (GRCm39)	K104R	probably damaging	Het
Nwd1	G	A	8: 73,429,602 (GRCm39)		probably null	Het
Or56b2j	T	G	7: 104,353,200 (GRCm39)	V142G	probably damaging	Het
Or5b118	A	G	19: 13,448,336 (GRCm39)	M1V	probably null	Het
Or6c3	A	C	10: 129,308,746 (GRCm39)	N62H	probably damaging	Het
Pacsin3	A	T	2: 91,093,126 (GRCm39)	Y206F	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,970 (GRCm39)	V255E	probably damaging	Het
Pdp1	T	C	4: 11,960,907 (GRCm39)	D468G	possibly damaging	Het
Pgr	C	T	9: 8,900,600 (GRCm39)		probably benign	Het
Prrt2	T	A	7: 126,617,899 (GRCm39)	Y345F	probably benign	Het
Rbbp8nl	T	C	2: 179,920,461 (GRCm39)	T515A	probably damaging	Het
Rc3h1	G	T	1: 160,757,823 (GRCm39)	R47L	probably damaging	Het
Rfpl4b	T	A	10: 38,697,281 (GRCm39)	I107F	possibly damaging	Het
Rsbn1	T	C	3: 103,869,801 (GRCm39)	F754S	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scn3a	T	C	2: 65,337,608 (GRCm39)	T630A	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slco1a5	C	A	6: 142,194,542 (GRCm39)	C367F	probably damaging	Het
Slit1	A	G	19: 41,613,959 (GRCm39)		probably null	Het
Slit2	G	A	5: 48,378,333 (GRCm39)		probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Stk16	T	A	1: 75,190,248 (GRCm39)	M111K	probably damaging	Het
Tbc1d2	T	C	4: 46,616,298 (GRCm39)	I477V	probably benign	Het
Tll1	T	A	8: 64,570,974 (GRCm39)	E199D	probably damaging	Het
Trhde	A	T	10: 114,424,407 (GRCm39)	D459E	probably benign	Het
Ttn	T	C	2: 76,541,881 (GRCm39)	R25375G	possibly damaging	Het
Tubgcp2	A	T	7: 139,578,701 (GRCm39)	M757K	possibly damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ubqln5	A	G	7: 103,778,632 (GRCm39)	V64A	possibly damaging	Het
Usp47	A	G	7: 111,709,204 (GRCm39)	M1337V	probably benign	Het
Vmn1r201	T	A	13: 22,659,409 (GRCm39)	Y208N	probably damaging	Het
Xkr8	C	T	4: 132,455,368 (GRCm39)	R335H	probably damaging	Het
Zbtb49	A	T	5: 38,373,870 (GRCm39)	C25S	probably damaging	Het
Zeb2	T	A	2: 44,887,800 (GRCm39)	N404I	probably damaging	Het

Other mutations in Lrrc26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02317:Lrrc26	APN	2	25,180,314 (GRCm39)	missense	probably damaging	1.00
R4205:Lrrc26	UTSW	2	25,180,170 (GRCm39)	missense	probably damaging	1.00
R4729:Lrrc26	UTSW	2	25,180,076 (GRCm39)	missense	probably benign	0.00
R6277:Lrrc26	UTSW	2	25,180,116 (GRCm39)	missense	probably benign	0.07
R7054:Lrrc26	UTSW	2	25,180,087 (GRCm39)	missense	probably benign
R7363:Lrrc26	UTSW	2	25,180,581 (GRCm39)	missense	probably benign	0.34
R7517:Lrrc26	UTSW	2	25,180,545 (GRCm39)	missense	probably benign	0.31
R8988:Lrrc26	UTSW	2	25,180,286 (GRCm39)	missense	probably benign	0.01
R9082:Lrrc26	UTSW	2	25,180,344 (GRCm39)	missense	probably damaging	1.00
R9479:Lrrc26	UTSW	2	25,180,571 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TTGCAATGGCTGGACCTGAG -3'
(R):5'- AGCAGGGTCTCAGTTTCTGC -3'

Sequencing Primer
(F):5'- TGGACCTGAGCTCCAACCAG -3'
(R):5'- TCTCAGTTTCTGCGGGACACAG -3'

Posted On

2016-11-21