Mutagenetix > Incidental Mutation

Incidental Mutation 'R6576:Lrrc75a'

523514

Institutional Source

Beutler Lab

Gene Symbol

Lrrc75a

Ensembl Gene

ENSMUSG00000046417

Gene Name

leucine rich repeat containing 75A

Synonyms

Fam211a, BC046404

MMRRC Submission

044700-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R6576 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62495710-62539349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62496695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 289 (P289L)

Ref Sequence

ENSEMBL: ENSMUSP00000062489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057194]

AlphaFold

Q7TSF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000057194
AA Change: P289L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062489
Gene: ENSMUSG00000046417
AA Change: P289L

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
SCOP:d1yrga_	152	290	7e-6	SMART
low complexity region	298	309	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131787

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

92% (34/37)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	T	4: 62,450,842 (GRCm39)	T102S	possibly damaging	Het
Aff4	C	A	11: 53,291,268 (GRCm39)	H743N	probably damaging	Het
Apba3	A	G	10: 81,108,925 (GRCm39)	T563A	probably benign	Het
Arhgap20	T	C	9: 51,760,578 (GRCm39)	S774P	probably benign	Het
Asap2	A	G	12: 21,294,704 (GRCm39)	Y528C	probably damaging	Het
Cep162	A	G	9: 87,099,198 (GRCm39)	S767P	probably benign	Het
Ces1b	T	A	8: 93,783,547 (GRCm39)	T558S	probably benign	Het
Chd8	T	C	14: 52,453,533 (GRCm39)	Y1176C	probably damaging	Het
Cldn15	A	T	5: 137,003,470 (GRCm39)	E157D	probably damaging	Het
Col4a3	T	A	1: 82,686,295 (GRCm39)		probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Dnaaf3	A	G	7: 4,526,379 (GRCm39)	I566T	probably benign	Het
Drc7	A	T	8: 95,801,886 (GRCm39)	I716F	probably damaging	Het
Eddm13	G	A	7: 6,280,541 (GRCm39)		probably benign	Het
Fat3	G	A	9: 16,288,506 (GRCm39)	T339I	probably damaging	Het
Fat4	T	C	3: 39,033,839 (GRCm39)	I2497T	probably benign	Het
Fmo6	A	G	1: 162,750,264 (GRCm39)	F264S	probably damaging	Het
Gtf2i	T	C	5: 134,292,556 (GRCm39)	D356G	probably damaging	Het
Id1	T	C	2: 152,578,583 (GRCm39)	V108A	probably benign	Het
Kcnq3	T	C	15: 65,897,027 (GRCm39)	D291G	possibly damaging	Het
Klc3	G	T	7: 19,131,905 (GRCm39)	D157E	possibly damaging	Het
Lasp1	C	T	11: 97,724,402 (GRCm39)	R94C	probably damaging	Het
Lmbr1	A	T	5: 29,496,308 (GRCm39)	M93K	probably damaging	Het
Med11	G	T	11: 70,343,996 (GRCm39)	K105N	probably benign	Het
Mrgprx2	A	T	7: 48,132,380 (GRCm39)	I146N	probably damaging	Het
Mrpl20	A	G	4: 155,891,371 (GRCm39)	I69V	probably benign	Het
Pik3c3	A	G	18: 30,475,794 (GRCm39)		probably benign	Het
Rad54b	T	A	4: 11,601,577 (GRCm39)	N377K	probably benign	Het
Rilp	A	G	11: 75,403,218 (GRCm39)		probably null	Het
Ripk2	A	T	4: 16,131,558 (GRCm39)		probably null	Het
Rnf167	A	C	11: 70,540,588 (GRCm39)	K156T	possibly damaging	Het
Shld2	T	C	14: 33,990,199 (GRCm39)	T236A	probably damaging	Het
Snx29	T	C	16: 11,532,920 (GRCm39)		probably null	Het
Sox6	T	A	7: 115,300,937 (GRCm39)	I177F	probably damaging	Het
Tln1	A	T	4: 43,555,419 (GRCm39)		probably null	Het
Unc13a	T	A	8: 72,106,122 (GRCm39)	T661S	probably benign	Het
Vmn2r23	A	G	6: 123,710,232 (GRCm39)	T512A	probably benign	Het
Vmn2r87	G	A	10: 130,314,654 (GRCm39)	L311F	probably benign	Het
Wdr64	G	T	1: 175,633,494 (GRCm39)	S915I	possibly damaging	Het
Xpo5	T	A	17: 46,551,734 (GRCm39)		probably null	Het
Zswim8	T	C	14: 20,771,942 (GRCm39)	V1548A	probably benign	Het

Other mutations in Lrrc75a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Lrrc75a	APN	11	62,496,813 (GRCm39)	missense	probably damaging	0.98
R1171:Lrrc75a	UTSW	11	62,500,069 (GRCm39)	missense	probably damaging	1.00
R6548:Lrrc75a	UTSW	11	62,496,921 (GRCm39)	missense	probably damaging	0.98
R7147:Lrrc75a	UTSW	11	62,496,795 (GRCm39)	missense	probably damaging	1.00
R7411:Lrrc75a	UTSW	11	62,496,734 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACCCCTATTGTGATGTCATG -3'
(R):5'- TCACAGATGACATGGTTCTGC -3'

Sequencing Primer
(F):5'- GATGTCATGTCTGAATCACACACTC -3'
(R):5'- CAGATGACATGGTTCTGCAGCTAC -3'

Posted On

2018-06-22