Mutagenetix > Incidental Mutation

Incidental Mutation 'R5636:Lrrc6'

440393

Institutional Source

Beutler Lab

Gene Symbol

Lrrc6

Ensembl Gene

ENSMUSG00000022375

Gene Name

leucine rich repeat containing 6 (testis)

Synonyms

LRTP

MMRRC Submission

043287-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R5636 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66379858-66500910 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 66500816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023006]

AlphaFold

O88978

Predicted Effect

probably null
Transcript: ENSMUST00000023006

SMART Domains

Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375

Domain	Start	End	E-Value	Type
internal_repeat_1	23	65	8.03e-6	PROSPERO
internal_repeat_1	68	109	8.03e-6	PROSPERO
LRRcap	128	146	2.42e-2	SMART
low complexity region	178	204	N/A	INTRINSIC
low complexity region	277	290	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	449	471	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,944,982 (GRCm38)	Q448*	probably null	Het
Abca5	A	G	11: 110,301,536 (GRCm38)	Y717H	probably benign	Het
Abcg2	T	A	6: 58,672,056 (GRCm38)	D295E	probably damaging	Het
Accsl	C	T	2: 93,869,025 (GRCm38)	E7K	probably benign	Het
Acvr2b	A	G	9: 119,428,309 (GRCm38)	Y152C	probably damaging	Het
Akap13	A	G	7: 75,704,372 (GRCm38)	E1747G	probably damaging	Het
Arpp19	C	T	9: 75,037,933 (GRCm38)		probably benign	Het
Atp10d	A	G	5: 72,288,219 (GRCm38)	Y74C	probably damaging	Het
Atp6v0b	T	C	4: 117,886,385 (GRCm38)		probably benign	Het
Bms1	C	A	6: 118,388,825 (GRCm38)	M1133I	probably benign	Het
Bysl	A	C	17: 47,602,723 (GRCm38)	D259E	probably benign	Het
Capn1	A	T	19: 6,014,442 (GRCm38)	V9E	probably benign	Het
Cdkl2	T	C	5: 92,033,742 (GRCm38)	I127V	probably benign	Het
Cyp2c38	G	A	19: 39,438,306 (GRCm38)	Q184*	probably null	Het
Cypt12	C	T	3: 17,948,585 (GRCm38)	R41C	probably benign	Het
Fat2	T	C	11: 55,282,481 (GRCm38)	I2469V	probably damaging	Het
Fbxo38	A	G	18: 62,511,018 (GRCm38)	V923A	possibly damaging	Het
Gm13889	A	G	2: 93,956,686 (GRCm38)	C148R	probably damaging	Het
Gpd1	A	T	15: 99,722,058 (GRCm38)	T223S	probably benign	Het
Hcrtr1	C	A	4: 130,130,945 (GRCm38)	G383C	possibly damaging	Het
Hivep1	C	T	13: 42,163,456 (GRCm38)	P2047S	possibly damaging	Het
Islr2	T	C	9: 58,201,301 (GRCm38)	T35A	probably benign	Het
Lgr6	T	C	1: 134,987,078 (GRCm38)	D644G	probably benign	Het
Mdn1	C	T	4: 32,695,480 (GRCm38)	T1173I	probably damaging	Het
Mon1a	T	C	9: 107,901,240 (GRCm38)	V221A	probably damaging	Het
Mrgprb4	A	G	7: 48,198,470 (GRCm38)	C237R	probably benign	Het
Myo1b	A	G	1: 51,797,528 (GRCm38)	M264T	probably damaging	Het
Naxd	A	G	8: 11,502,676 (GRCm38)	N32S	probably benign	Het
Nlrp12	A	T	7: 3,225,294 (GRCm38)	L1010Q	probably damaging	Het
Nos1ap	T	A	1: 170,349,399 (GRCm38)	K145M	probably damaging	Het
Nuggc	A	T	14: 65,648,188 (GRCm38)	K755*	probably null	Het
Olfr1501	C	T	19: 13,838,337 (GRCm38)	V279M	possibly damaging	Het
Olfr332	T	C	11: 58,490,051 (GRCm38)	K235E	probably damaging	Het
Pik3ca	G	A	3: 32,461,560 (GRCm38)	R794Q	probably damaging	Het
Pnp2	A	G	14: 50,956,192 (GRCm38)		probably null	Het
Ric3	G	A	7: 109,038,820 (GRCm38)	T242I	probably damaging	Het
Rnf213	G	A	11: 119,436,629 (GRCm38)	R1814K	probably benign	Het
Rnf213	A	C	11: 119,436,905 (GRCm38)	Q1906P	probably damaging	Het
Rufy2	T	A	10: 62,997,954 (GRCm38)	I265N	probably damaging	Het
Scap	G	T	9: 110,380,594 (GRCm38)	G744C	probably damaging	Het
Serpinb3c	T	C	1: 107,275,014 (GRCm38)	Q88R	possibly damaging	Het
Sf3b1	T	C	1: 54,997,193 (GRCm38)	D907G	probably damaging	Het
Skint8	C	A	4: 111,950,193 (GRCm38)	L359M	probably damaging	Het
Slc4a3	C	T	1: 75,554,216 (GRCm38)	L749F	possibly damaging	Het
Smtn	T	G	11: 3,517,829 (GRCm38)		probably null	Het
Spag9	C	A	11: 94,069,012 (GRCm38)	D342E	probably damaging	Het
Sptbn5	G	A	2: 120,057,404 (GRCm38)		probably benign	Het
Stam	G	T	2: 14,117,427 (GRCm38)	M112I	probably damaging	Het
Tex35	C	T	1: 157,100,224 (GRCm38)	W125*	probably null	Het
Tmem215	A	G	4: 40,474,394 (GRCm38)	E157G	probably damaging	Het
Traf6	G	A	2: 101,696,909 (GRCm38)	V335M	probably benign	Het
Ubr5	T	A	15: 37,983,996 (GRCm38)	K2302N	probably damaging	Het
Vmn2r78	A	G	7: 86,954,429 (GRCm38)	H605R	probably damaging	Het

Other mutations in Lrrc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Lrrc6	APN	15	66,481,233 (GRCm38)	splice site	probably benign
IGL01313:Lrrc6	APN	15	66,380,513 (GRCm38)	missense	probably benign	0.00
IGL01739:Lrrc6	APN	15	66,449,477 (GRCm38)	missense	probably benign
IGL01863:Lrrc6	APN	15	66,396,974 (GRCm38)	splice site	probably benign
IGL02074:Lrrc6	APN	15	66,489,490 (GRCm38)	missense	probably damaging	1.00
IGL02146:Lrrc6	APN	15	66,489,526 (GRCm38)	missense	probably benign	0.08
IGL02146:Lrrc6	APN	15	66,489,525 (GRCm38)	nonsense	probably null
IGL03194:Lrrc6	APN	15	66,442,199 (GRCm38)	missense	probably benign	0.03
droopy	UTSW	15	66,447,676 (GRCm38)	splice site	probably benign
R0087:Lrrc6	UTSW	15	66,469,975 (GRCm38)	missense	probably benign	0.00
R0178:Lrrc6	UTSW	15	66,454,101 (GRCm38)	missense	probably benign	0.05
R0463:Lrrc6	UTSW	15	66,380,474 (GRCm38)	missense	probably benign
R0539:Lrrc6	UTSW	15	66,447,606 (GRCm38)	missense	probably damaging	0.99
R0608:Lrrc6	UTSW	15	66,380,474 (GRCm38)	missense	probably benign
R1124:Lrrc6	UTSW	15	66,438,415 (GRCm38)	missense	possibly damaging	0.92
R2209:Lrrc6	UTSW	15	66,449,551 (GRCm38)	missense	probably benign	0.00
R2257:Lrrc6	UTSW	15	66,437,587 (GRCm38)	splice site	probably benign
R2844:Lrrc6	UTSW	15	66,447,676 (GRCm38)	splice site	probably benign
R2867:Lrrc6	UTSW	15	66,438,408 (GRCm38)	nonsense	probably null
R2867:Lrrc6	UTSW	15	66,438,408 (GRCm38)	nonsense	probably null
R4281:Lrrc6	UTSW	15	66,380,529 (GRCm38)	missense	probably benign	0.35
R5163:Lrrc6	UTSW	15	66,442,218 (GRCm38)	missense	probably benign	0.01
R6365:Lrrc6	UTSW	15	66,454,134 (GRCm38)	missense	probably benign	0.00
R6567:Lrrc6	UTSW	15	66,438,379 (GRCm38)	missense	probably benign	0.43
R7751:Lrrc6	UTSW	15	66,449,563 (GRCm38)	missense	probably benign	0.00
R7774:Lrrc6	UTSW	15	66,449,552 (GRCm38)	missense	probably benign	0.01
R7963:Lrrc6	UTSW	15	66,380,517 (GRCm38)	missense	probably damaging	1.00
R9018:Lrrc6	UTSW	15	66,449,630 (GRCm38)	missense	probably benign	0.01
R9499:Lrrc6	UTSW	15	66,489,634 (GRCm38)	missense	probably damaging	0.97
Z1177:Lrrc6	UTSW	15	66,469,899 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GAATCTGAGGAGTACTGGGC -3'
(R):5'- GGACTGCTCCAAAGAAAGCC -3'

Sequencing Primer
(F):5'- TCTGAGGAGTACTGGGCAGAAG -3'
(R):5'- TCAGGGACAGTGGAGCTTGC -3'

Posted On

2016-11-08