Mutagenetix > Incidental Mutations

Incidental Mutation 'R8983:Lor'

683811

Institutional Source

Beutler Lab

Gene Symbol

Lor

Ensembl Gene

ENSMUSG00000043165

Gene Name

loricrin

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92080271-92083142 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92081139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 280 (Y280C)

Ref Sequence

ENSEMBL: ENSMUSP00000052128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058150]

AlphaFold

P18165

Predicted Effect

unknown
Transcript: ENSMUST00000058150
AA Change: Y280C

SMART Domains

Protein: ENSMUSP00000052128
Gene: ENSMUSG00000043165
AA Change: Y280C

Domain	Start	End	E-Value	Type
Pfam:Loricrin	316	438	2.7e-11	PFAM
Pfam:Loricrin	426	486	1.4e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene are runted at birth, have a translucent skin and skin skin barrier defect. The morphological skin phenotype disappears after 4-5 days. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	G	6: 40,921,000	S250P	possibly damaging	Het
4921509C19Rik	A	T	2: 151,471,352	F632I	unknown	Het
4930430A15Rik	A	G	2: 111,200,356	S403P	probably benign	Het
5730522E02Rik	T	C	11: 25,769,069	T26A	unknown	Het
Ablim1	A	T	19: 57,239,212	V7E	probably benign	Het
Adcy5	T	G	16: 35,156,862	L255R	possibly damaging	Het
Ahnak	C	A	19: 9,004,113	N920K	possibly damaging	Het
Arhgef11	A	G	3: 87,733,201	K1251E		Het
Astn1	T	A	1: 158,664,130		probably null	Het
Atxn2	A	G	5: 121,778,000	Y423C	probably damaging	Het
Ccdc180	T	A	4: 45,909,359	V509D	possibly damaging	Het
Ccdc80	T	C	16: 45,104,417	V638A	possibly damaging	Het
Ccr6	T	G	17: 8,256,046	C28G	probably damaging	Het
Cdca7l	A	G	12: 117,865,167		probably benign	Het
Cnot3	T	C	7: 3,651,329	I52T	probably damaging	Het
Cped1	A	T	6: 22,138,687	N555I	probably benign	Het
Cpne6	A	T	14: 55,516,254	I390F	probably damaging	Het
Dlec1	A	G	9: 119,128,351	D836G	probably benign	Het
Dnah8	T	A	17: 30,851,654	V4438D	probably damaging	Het
Dok3	G	T	13: 55,523,722	N345K	probably damaging	Het
Eea1	C	T	10: 96,019,879	Q593*	probably null	Het
Eif3m	T	C	2: 104,999,794	Y351C	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Epn3	T	C	11: 94,496,088	E152G	probably damaging	Het
Faf2	A	G	13: 54,621,913	S25G	probably benign	Het
Fam83b	A	G	9: 76,493,075	S249P	probably damaging	Het
Fgl1	A	T	8: 41,200,459	S132R	probably benign	Het
Frem3	A	G	8: 80,669,246	E1890G	probably damaging	Het
Gm960	T	C	19: 4,645,686	I513V	possibly damaging	Het
Gpc5	T	A	14: 115,092,686	S94T	unknown	Het
Hectd1	A	G	12: 51,744,627	V2584A	probably damaging	Het
Kifc3	G	A	8: 95,106,476	A498V	probably damaging	Het
Klra6	T	C	6: 130,022,610	T132A	probably benign	Het
Lpin2	C	T	17: 71,246,967	A931V	unknown	Het
Lpxn	A	G	19: 12,833,158	H322R	probably damaging	Het
Megf9	A	G	4: 70,435,397	S391P	probably benign	Het
Mipep	G	A	14: 60,843,253	V565I	probably benign	Het
Mmrn1	C	T	6: 60,976,058	T441I	probably benign	Het
Mpp5	G	A	12: 78,837,524	D640N	probably damaging	Het
Mrpl48	T	C	7: 100,574,495	N14S	probably benign	Het
Ncald	A	G	15: 37,397,268	F56S	probably damaging	Het
Olfr1012	T	C	2: 85,753,907		probably benign	Het
Plcd3	A	G	11: 103,071,266	V703A	possibly damaging	Het
Qser1	T	C	2: 104,787,357	I947V	probably benign	Het
Rdx	G	A	9: 52,063,605	A14T	probably damaging	Het
Rnf213	A	G	11: 119,430,349	D1211G		Het
Sbpl	T	C	17: 23,953,279	D222G	unknown	Het
Scn8a	C	A	15: 101,002,149	T703K	possibly damaging	Het
Setbp1	A	G	18: 78,859,244	S403P	probably benign	Het
Sfmbt2	A	G	2: 10,404,456	S71G	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,036		probably benign	Het
Smco3	C	T	6: 136,831,732	G48D	possibly damaging	Het
Spag9	T	C	11: 94,067,989	S280P	probably benign	Het
Thada	T	C	17: 84,231,087	T1498A	probably benign	Het
Tmprss7	T	C	16: 45,660,900	D641G	probably damaging	Het
Trim43a	A	G	9: 88,582,351	D105G	probably benign	Het
Utp14b	T	A	1: 78,665,286	N300K	probably benign	Het
Vmn2r83	T	G	10: 79,491,526	I656S	probably damaging	Het
Zfp646	A	T	7: 127,881,605	M985L	probably benign	Het
Zfp777	A	T	6: 48,029,224	L412Q	probably damaging	Het

Other mutations in Lor

Allele	Source	Chr	Coord	Type	Predicted Effect
FR4589:Lor	UTSW	3	92081894	frame shift	probably null
R2932:Lor	UTSW	3	92081878	small deletion	probably benign
R4677:Lor	UTSW	3	92081743	missense	unknown
R5454:Lor	UTSW	3	92081482	missense	unknown
R5851:Lor	UTSW	3	92080539	missense	unknown
R6267:Lor	UTSW	3	92081812	nonsense	probably null
R7219:Lor	UTSW	3	92081398	missense	unknown
R7430:Lor	UTSW	3	92081899	missense	unknown
R7780:Lor	UTSW	3	92081153	nonsense	probably null
RF027:Lor	UTSW	3	92081876	small deletion	probably benign
RF028:Lor	UTSW	3	92081899	frame shift	probably null
RF031:Lor	UTSW	3	92081876	small deletion	probably benign
X0057:Lor	UTSW	3	92081878	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGCTGAGAGGAGTAATAGCC -3'
(R):5'- AGGCGGCAAGTACTCTGGT -3'

Sequencing Primer
(F):5'- TGAGAGGAGTAATAGCCCCCTC -3'
(R):5'- AAGTACTCTGGTGGCGGC -3'

Posted On

2021-10-11