Mutagenetix > Incidental Mutation

Incidental Mutation 'R7363:Lrrc26'

571450

Institutional Source

Beutler Lab

Gene Symbol

Lrrc26

Ensembl Gene

ENSMUSG00000026961

Gene Name

leucine rich repeat containing 26

Synonyms

MMRRC Submission

045448-MU

Accession Numbers

Essential gene?

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

Stock #

R7363 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25179927-25181192 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25180581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 194 (D194G)

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 benign
Transcript: ENSMUST00000028337
AA Change: D194G

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028337
Gene: ENSMUSG00000026961
AA Change: D194G

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,782 (GRCm39)	N190I	probably damaging	Het
Ablim1	G	T	19: 57,204,173 (GRCm39)	L73I	probably benign	Het
Adamts4	A	T	1: 171,086,608 (GRCm39)	Q800L	probably benign	Het
Atm	A	T	9: 53,376,598 (GRCm39)	I2014N	probably damaging	Het
Atp2a1	A	G	7: 126,062,061 (GRCm39)	C12R	possibly damaging	Het
B3galnt1	A	T	3: 69,483,157 (GRCm39)	Y35N	probably damaging	Het
Bnc2	A	T	4: 84,210,308 (GRCm39)	M687K	probably benign	Het
Cacna2d4	A	G	6: 119,320,939 (GRCm39)	Y917C	probably damaging	Het
Cemip2	T	C	19: 21,833,575 (GRCm39)	F1338L	probably benign	Het
Ces2e	A	G	8: 105,659,632 (GRCm39)		probably null	Het
Cldn23	A	G	8: 36,292,659 (GRCm39)		probably null	Het
Cntn5	G	T	9: 10,172,021 (GRCm39)	S54R	probably benign	Het
Cyria	T	A	12: 12,390,665 (GRCm39)		probably null	Het
Dido1	G	T	2: 180,304,310 (GRCm39)	S1198*	probably null	Het
Dnah12	A	G	14: 26,445,766 (GRCm39)	M776V	probably benign	Het
Dnah14	A	G	1: 181,518,089 (GRCm39)		probably null	Het
Dnttip1	GGGCCGGC	GGGC	2: 164,599,605 (GRCm39)		probably null	Het
Dusp28	A	T	1: 92,834,861 (GRCm39)	T29S	probably benign	Het
Erich1	A	T	8: 14,083,688 (GRCm39)	S127R	probably benign	Het
Fam151a	T	A	4: 106,602,681 (GRCm39)	L200H	probably damaging	Het
Fbxw8	A	T	5: 118,263,057 (GRCm39)	H207Q	probably damaging	Het
Fgf22	A	G	10: 79,592,676 (GRCm39)	E116G	probably benign	Het
Gapvd1	C	A	2: 34,602,207 (GRCm39)	V647F	probably benign	Het
Garin4	A	T	1: 190,895,910 (GRCm39)	S244R	probably damaging	Het
Gja4	T	A	4: 127,206,487 (GRCm39)	Y92F	probably damaging	Het
Gtf3c2	G	A	5: 31,327,600 (GRCm39)	R288W	probably damaging	Het
Hira	G	T	16: 18,716,532 (GRCm39)	R99L	possibly damaging	Het
Ighv16-1	C	T	12: 114,032,721 (GRCm39)	G27D	probably damaging	Het
Igkv1-133	C	T	6: 67,702,395 (GRCm39)	P38S	probably benign	Het
Igkv4-59	T	C	6: 69,415,396 (GRCm39)	Y53C	probably damaging	Het
Il23a	T	C	10: 128,133,020 (GRCm39)	E113G	probably damaging	Het
Kcnip1	A	G	11: 33,584,589 (GRCm39)	V188A	probably benign	Het
L3mbtl3	T	C	10: 26,216,850 (GRCm39)	K155E	unknown	Het
Lancl2	T	G	6: 57,699,664 (GRCm39)	C169G	probably benign	Het
Lrrfip1	C	T	1: 91,050,842 (GRCm39)	A545V	probably benign	Het
Lrtm1	T	C	14: 28,743,850 (GRCm39)	F106S	probably damaging	Het
Lypd2	A	T	15: 74,604,848 (GRCm39)	M49K	probably damaging	Het
Mbd1	A	C	18: 74,406,357 (GRCm39)	D63A	probably damaging	Het
Mdn1	T	C	4: 32,691,729 (GRCm39)	F990L	probably damaging	Het
Mtfr1l	T	C	4: 134,256,577 (GRCm39)	E196G	probably benign	Het
Myh10	A	G	11: 68,705,874 (GRCm39)	T2007A	probably benign	Het
Nckap1	G	A	2: 80,370,512 (GRCm39)	R393C	probably damaging	Het
Nup205	C	T	6: 35,209,508 (GRCm39)	T1605M	probably benign	Het
Or1e33	T	C	11: 73,738,741 (GRCm39)	D70G	probably damaging	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Pgap2	T	A	7: 101,875,467 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,619,387 (GRCm39)	S741G	probably benign	Het
Plcd4	A	T	1: 74,590,231 (GRCm39)	S155C	probably null	Het
Poc5	A	T	13: 96,540,925 (GRCm39)	T365S	possibly damaging	Het
Ppp2r5c	G	A	12: 110,489,041 (GRCm39)	A71T	probably benign	Het
Prdm6	T	A	18: 53,598,199 (GRCm39)	I187N	possibly damaging	Het
Pxk	A	G	14: 8,152,118 (GRCm38)	Q478R	probably benign	Het
Rgl1	T	C	1: 152,394,914 (GRCm39)	Y718C	probably damaging	Het
Ring1	G	T	17: 34,243,336 (GRCm39)	T2K	possibly damaging	Het
Sdk1	A	G	5: 142,173,897 (GRCm39)	S2022G	probably benign	Het
Sec61a1	C	A	6: 88,492,533 (GRCm39)	V32F	probably benign	Het
Sv2b	G	A	7: 74,797,402 (GRCm39)	P331S	probably damaging	Het
Syne1	T	C	10: 5,090,970 (GRCm39)	S795G	possibly damaging	Het
Tmod2	T	C	9: 75,484,023 (GRCm39)	E309G	probably damaging	Het
Tpp2	T	G	1: 44,024,582 (GRCm39)	S987A	probably benign	Het
Trim75	G	C	8: 65,435,539 (GRCm39)	H304D	probably damaging	Het
Trp53bp2	G	T	1: 182,272,231 (GRCm39)	D447Y	probably damaging	Het
Ube3a	A	G	7: 58,936,751 (GRCm39)	K697E	probably benign	Het
Vmn2r13	T	A	5: 109,339,909 (GRCm39)	H22L	probably benign	Het
Vmn2r4	G	A	3: 64,314,432 (GRCm39)	S183F	probably damaging	Het
Vwa8	T	C	14: 79,256,147 (GRCm39)	Y721H	probably benign	Het
Wbp1l	C	T	19: 46,642,569 (GRCm39)	P190L	possibly damaging	Het
Zcchc4	A	T	5: 52,942,510 (GRCm39)	Q105L	possibly damaging	Het
Zfp236	T	C	18: 82,639,456 (GRCm39)	R1264G	probably damaging	Het
Zfpm2	T	A	15: 40,616,413 (GRCm39)	N54K	probably damaging	Het
Zkscan3	C	T	13: 21,571,992 (GRCm39)	G547S	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
R5699:Lrrc26	UTSW	2	25,180,536 (GRCm39)	missense	probably damaging	1.00
R6277:Lrrc26	UTSW	2	25,180,116 (GRCm39)	missense	probably benign	0.07
R7054:Lrrc26	UTSW	2	25,180,087 (GRCm39)	missense	probably benign
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'- TGTTGCAATGGCTGGACCTG -3'
(R):5'- CAGAGCAGGGTCTCAGTTTCTG -3'

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

Posted On

2019-09-13