Mutagenetix > Incidental Mutation

Incidental Mutation 'R5533:Lcorl'

433741

Institutional Source

Beutler Lab

Gene Symbol

Lcorl

Ensembl Gene

ENSMUSG00000015882

Gene Name

ligand dependent nuclear receptor corepressor-like

Synonyms

A830039H10Rik, Mlr1

MMRRC Submission

043091-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R5533 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45854523-46014957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45891219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 378 (N378S)

Ref Sequence

ENSEMBL: ENSMUSP00000084408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016026] [ENSMUST00000045586] [ENSMUST00000087164] [ENSMUST00000121573] [ENSMUST00000190036]

AlphaFold

Q3U285

Predicted Effect

probably benign
Transcript: ENSMUST00000016026
AA Change: N461S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000016026
Gene: ENSMUSG00000015882
AA Change: N461S

Domain	Start	End	E-Value	Type
low complexity region	234	253	N/A	INTRINSIC
Pfam:HTH_psq	276	313	5.1e-9	PFAM
Pfam:HTH_psq	525	570	1.9e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045586

SMART Domains

Protein: ENSMUSP00000042677
Gene: ENSMUSG00000015882

Domain	Start	End	E-Value	Type
low complexity region	234	253	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087164
AA Change: N378S

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084408
Gene: ENSMUSG00000015882
AA Change: N378S

Domain	Start	End	E-Value	Type
low complexity region	151	170	N/A	INTRINSIC
Pfam:HTH_psq	193	230	3.4e-7	PFAM
Pfam:HTH_psq	442	487	9.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121573

SMART Domains

Protein: ENSMUSP00000112416
Gene: ENSMUSG00000015882

Domain	Start	End	E-Value	Type
low complexity region	151	170	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190036

Coding Region Coverage

1x: 98.4%
3x: 97.1%
10x: 94.5%
20x: 88.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,918,911 (GRCm39)	E429G	probably damaging	Het
Akap12	T	A	10: 4,307,405 (GRCm39)	V1405D	probably damaging	Het
Akap7	C	T	10: 25,159,880 (GRCm39)	D107N	possibly damaging	Het
Arfgef1	A	G	1: 10,269,952 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,026,113 (GRCm39)		probably null	Het
Ctsd	T	C	7: 141,931,070 (GRCm39)	Q274R	probably benign	Het
Dysf	G	A	6: 84,163,453 (GRCm39)	R1575Q	probably damaging	Het
Erich6b	A	T	14: 75,896,274 (GRCm39)	L53F	possibly damaging	Het
Exoc6	A	C	19: 37,582,218 (GRCm39)		probably null	Het
Fbxw19	A	T	9: 109,315,133 (GRCm39)	V143E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fndc1	A	G	17: 7,991,608 (GRCm39)	F696S	unknown	Het
Foxa3	G	T	7: 18,748,940 (GRCm39)	Y102*	probably null	Het
Foxn1	A	G	11: 78,256,792 (GRCm39)	M301T	probably damaging	Het
Foxp2	C	T	6: 15,197,119 (GRCm39)	Q54*	probably null	Het
Glra1	T	C	11: 55,423,208 (GRCm39)	E117G	possibly damaging	Het
Glt1d1	A	T	5: 127,768,095 (GRCm39)	D234V	probably damaging	Het
Golm2	AGATGGTGATGGTG	AGATGGTG	2: 121,756,178 (GRCm39)		probably benign	Het
Gulp1	T	C	1: 44,812,441 (GRCm39)	I137T	probably damaging	Het
Itga8	A	G	2: 12,165,161 (GRCm39)	V816A	possibly damaging	Het
Kdm4c	G	A	4: 74,233,886 (GRCm39)		probably benign	Het
Krtap19-2	A	G	16: 88,670,996 (GRCm39)		probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mocos	T	C	18: 24,807,357 (GRCm39)	L363P	probably damaging	Het
Mycbp2	G	T	14: 103,520,081 (GRCm39)	Y745*	probably null	Het
Nav3	A	C	10: 109,719,539 (GRCm39)	N141K	possibly damaging	Het
Ncor1	T	C	11: 62,233,837 (GRCm39)	N779S	probably benign	Het
Nebl	G	T	2: 17,398,079 (GRCm39)	Y414*	probably null	Het
Nf1	T	G	11: 79,336,615 (GRCm39)	C1065G	probably damaging	Het
Nfib	A	G	4: 82,278,004 (GRCm39)	V216A	probably damaging	Het
Nub1	A	T	5: 24,907,379 (GRCm39)	N354I	possibly damaging	Het
Nyap1	C	T	5: 137,733,726 (GRCm39)	V436I	probably benign	Het
Or5m11b	A	G	2: 85,805,797 (GRCm39)	D70G	possibly damaging	Het
Or5p73	T	C	7: 108,065,469 (GRCm39)	F313L	probably benign	Het
Pde2a	T	A	7: 101,155,187 (GRCm39)	M570K	probably damaging	Het
Pfas	T	C	11: 68,882,296 (GRCm39)	S856G	probably benign	Het
Pkd1l2	T	C	8: 117,794,855 (GRCm39)	E368G	probably benign	Het
Ptf1a	G	A	2: 19,451,969 (GRCm39)	V323M	probably damaging	Het
Ptprh	T	C	7: 4,552,504 (GRCm39)	Y920C	probably damaging	Het
Sergef	T	A	7: 46,264,200 (GRCm39)	D229V	possibly damaging	Het
Slc1a4	T	C	11: 20,254,417 (GRCm39)	K483R	probably benign	Het
Slc26a6	G	A	9: 108,735,155 (GRCm39)	R351H	probably damaging	Het
Slc6a19	G	A	13: 73,833,948 (GRCm39)	T370I	possibly damaging	Het
Smpd5	T	C	15: 76,178,757 (GRCm39)	S42P	possibly damaging	Het
Snx13	G	A	12: 35,173,025 (GRCm39)		probably null	Het
Sox10	G	A	15: 79,040,502 (GRCm39)	S185L	probably benign	Het
Spata31e5	T	A	1: 28,817,163 (GRCm39)	I290F	probably damaging	Het
Srpk1	T	C	17: 28,821,733 (GRCm39)	Y227C	probably damaging	Het
Stambpl1	T	A	19: 34,211,316 (GRCm39)		probably null	Het
Stk36	A	G	1: 74,665,750 (GRCm39)	R698G	possibly damaging	Het
Tas2r122	T	A	6: 132,688,393 (GRCm39)	T167S	probably damaging	Het
Tlr12	A	G	4: 128,509,656 (GRCm39)	S865P	probably damaging	Het
Trp53bp1	A	G	2: 121,038,227 (GRCm39)	L1537P	probably damaging	Het
Vstm2a	C	A	11: 16,213,125 (GRCm39)	T170K	possibly damaging	Het
Xpo7	A	T	14: 70,931,407 (GRCm39)	F304I	probably damaging	Het
Zfp286	T	C	11: 62,671,796 (GRCm39)		probably benign	Het
Zfp985	A	T	4: 147,667,440 (GRCm39)	K103*	probably null	Het

Other mutations in Lcorl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Lcorl	APN	5	45,904,637 (GRCm39)	missense	probably damaging	1.00
IGL01611:Lcorl	APN	5	45,904,434 (GRCm39)	missense	probably damaging	1.00
IGL03014:Lcorl	UTSW	5	45,931,371 (GRCm39)	intron	probably benign
R0070:Lcorl	UTSW	5	45,891,043 (GRCm39)	missense	probably damaging	1.00
R0070:Lcorl	UTSW	5	45,891,043 (GRCm39)	missense	probably damaging	1.00
R0499:Lcorl	UTSW	5	45,891,711 (GRCm39)	missense	probably benign	0.00
R1518:Lcorl	UTSW	5	45,891,543 (GRCm39)	missense	possibly damaging	0.94
R1817:Lcorl	UTSW	5	45,952,688 (GRCm39)	missense	probably damaging	1.00
R1977:Lcorl	UTSW	5	45,932,762 (GRCm39)	missense	probably null	0.16
R2171:Lcorl	UTSW	5	45,904,493 (GRCm39)	missense	probably damaging	0.99
R3737:Lcorl	UTSW	5	45,891,383 (GRCm39)	missense	possibly damaging	0.95
R3738:Lcorl	UTSW	5	45,891,383 (GRCm39)	missense	possibly damaging	0.95
R3739:Lcorl	UTSW	5	45,891,383 (GRCm39)	missense	possibly damaging	0.95
R3825:Lcorl	UTSW	5	45,932,729 (GRCm39)	splice site	probably benign
R4035:Lcorl	UTSW	5	45,891,383 (GRCm39)	missense	possibly damaging	0.95
R4199:Lcorl	UTSW	5	45,891,130 (GRCm39)	missense	possibly damaging	0.83
R4583:Lcorl	UTSW	5	45,890,931 (GRCm39)	nonsense	probably null
R4647:Lcorl	UTSW	5	45,890,931 (GRCm39)	nonsense	probably null
R4803:Lcorl	UTSW	5	45,904,623 (GRCm39)	unclassified	probably null
R5524:Lcorl	UTSW	5	45,932,865 (GRCm39)	critical splice acceptor site	probably null
R5524:Lcorl	UTSW	5	45,932,864 (GRCm39)	critical splice acceptor site	probably null
R5526:Lcorl	UTSW	5	45,891,069 (GRCm39)	missense	probably benign
R5772:Lcorl	UTSW	5	45,952,709 (GRCm39)	splice site	probably null
R5927:Lcorl	UTSW	5	45,882,766 (GRCm39)	intron	probably benign
R6175:Lcorl	UTSW	5	45,933,832 (GRCm39)	missense	probably damaging	1.00
R6734:Lcorl	UTSW	5	45,890,839 (GRCm39)	missense	probably damaging	0.98
R6864:Lcorl	UTSW	5	45,904,546 (GRCm39)	missense	probably damaging	1.00
R7078:Lcorl	UTSW	5	45,904,566 (GRCm39)	missense	probably damaging	1.00
R7396:Lcorl	UTSW	5	46,014,801 (GRCm39)	splice site	probably null
R7624:Lcorl	UTSW	5	45,859,307 (GRCm39)	missense	probably benign
R9008:Lcorl	UTSW	5	45,931,516 (GRCm39)	intron	probably benign
R9354:Lcorl	UTSW	5	45,890,968 (GRCm39)	nonsense	probably null
R9497:Lcorl	UTSW	5	45,891,339 (GRCm39)	missense	probably benign
X0023:Lcorl	UTSW	5	45,891,354 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATACTGTCGATAGCGGCCAC -3'
(R):5'- AGTTACCTCCATCAGTTAACTCTACAG -3'

Sequencing Primer
(F):5'- AGTGTTCTCAGAGGTTCC -3'
(R):5'- CCATCAGTTAACTCTACAGAAAATGG -3'

Posted On

2016-10-06