Mutagenetix > Incidental Mutation

Incidental Mutation 'R9070:Lrrc57'

689475

Institutional Source

Beutler Lab

Gene Symbol

Lrrc57

Ensembl Gene

ENSMUSG00000027286

Gene Name

leucine rich repeat containing 57

Synonyms

2810002D13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R9070 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120434719-120439989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120436565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 181 (L181P)

Ref Sequence

ENSEMBL: ENSMUSP00000099554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028741] [ENSMUST00000028743] [ENSMUST00000102496] [ENSMUST00000102497] [ENSMUST00000102498] [ENSMUST00000102499] [ENSMUST00000110706] [ENSMUST00000110711] [ENSMUST00000116437] [ENSMUST00000124187] [ENSMUST00000133612] [ENSMUST00000135465]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028741

SMART Domains

Protein: ENSMUSP00000028741
Gene: ENSMUSG00000027285

Domain	Start	End	E-Value	Type
Pfam:HAUS2	4	67	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028743

SMART Domains

Protein: ENSMUSP00000028743
Gene: ENSMUSG00000027287

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART
t_SNARE	140	207	1.89e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102496
AA Change: L181P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099554
Gene: ENSMUSG00000027286
AA Change: L181P

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000099555
Gene: ENSMUSG00000027286
AA Change: L181P

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102498
AA Change: L181P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099556
Gene: ENSMUSG00000027286
AA Change: L181P

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102499
AA Change: L181P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099557
Gene: ENSMUSG00000027286
AA Change: L181P

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110706

SMART Domains

Protein: ENSMUSP00000106334
Gene: ENSMUSG00000027285

Domain	Start	End	E-Value	Type
Pfam:HAUS2	1	199	2.4e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110711

SMART Domains

Protein: ENSMUSP00000106339
Gene: ENSMUSG00000027287

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART
t_SNARE	140	207	1.89e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116437

SMART Domains

Protein: ENSMUSP00000112138
Gene: ENSMUSG00000027287

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART
t_SNARE	151	218	1.89e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124187

SMART Domains

Protein: ENSMUSP00000117299
Gene: ENSMUSG00000027285

Domain	Start	End	E-Value	Type
Pfam:HAUS2	5	215	1.2e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000133612
AA Change: L181P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121638
Gene: ENSMUSG00000027286
AA Change: L181P

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135465
AA Change: L75P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117895
Gene: ENSMUSG00000027286
AA Change: L75P

Domain	Start	End	E-Value	Type
LRR	1	23	9.96e-1	SMART
LRR_TYP	24	47	9.44e-2	SMART
LRR	69	94	3.27e2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	T	C	16: 35,100,770 (GRCm39)	L774P	probably damaging	Het
Aldh2	T	C	5: 121,707,032 (GRCm39)	E495G	probably damaging	Het
Als2cl	T	C	9: 110,718,288 (GRCm39)	V343A	probably benign	Het
Antxrl	T	A	14: 33,793,671 (GRCm39)	C466*	probably null	Het
Aoc1l3	A	G	6: 48,965,329 (GRCm39)	N446D	possibly damaging	Het
Arc	A	G	15: 74,543,833 (GRCm39)	L130P	probably damaging	Het
Barhl1	C	A	2: 28,805,423 (GRCm39)	R90L	probably benign	Het
Baz2a	A	G	10: 127,958,931 (GRCm39)	M1149V	probably benign	Het
Bsn	G	A	9: 107,987,295 (GRCm39)	S106L		Het
Calu	A	G	6: 29,356,567 (GRCm39)	E31G	probably benign	Het
Cdh23	T	G	10: 60,173,539 (GRCm39)	I1650L	probably benign	Het
Ceacam9	T	C	7: 16,457,787 (GRCm39)	V100A	possibly damaging	Het
Dnaaf9	A	T	2: 130,654,793 (GRCm39)	S159R	possibly damaging	Het
Dpyd	T	G	3: 118,792,892 (GRCm39)	I533S	probably damaging	Het
Fam184a	T	C	10: 53,514,373 (GRCm39)	D1016G	possibly damaging	Het
Fv1	T	A	4: 147,954,414 (GRCm39)	W327R	probably damaging	Het
Gbp7	A	G	3: 142,249,762 (GRCm39)	D411G	probably benign	Het
Gldc	A	T	19: 30,080,404 (GRCm39)	D885E	probably damaging	Het
H4c3	A	G	13: 23,882,170 (GRCm39)	V88A	probably damaging	Het
Hdgfl2	T	C	17: 56,389,371 (GRCm39)	W82R	possibly damaging	Het
Hif1an	A	G	19: 44,551,458 (GRCm39)	S48G	probably benign	Het
Itgal	C	T	7: 126,927,873 (GRCm39)	R1023W	probably null	Het
Kif13a	C	A	13: 46,905,934 (GRCm39)	A1618S	probably benign	Het
Mptx2	T	A	1: 173,102,119 (GRCm39)	D190V	probably benign	Het
Mroh5	A	G	15: 73,656,688 (GRCm39)	F590L	probably damaging	Het
Net1	A	G	13: 3,936,103 (GRCm39)	I381T	probably damaging	Het
Nipbl	T	A	15: 8,368,215 (GRCm39)	K1169I	possibly damaging	Het
Nop9	G	A	14: 55,990,757 (GRCm39)	R563H	probably damaging	Het
Obscn	A	T	11: 59,013,457 (GRCm39)	L1130Q	probably damaging	Het
Or1j13	A	T	2: 36,369,268 (GRCm39)	S291R	probably damaging	Het
Or2b2b	A	T	13: 21,858,985 (GRCm39)	M43K	probably benign	Het
Pcgf1	T	A	6: 83,057,076 (GRCm39)	H202Q	probably damaging	Het
Pcnx3	A	G	19: 5,715,601 (GRCm39)	L1883P	probably benign	Het
Pde4b	T	C	4: 102,458,994 (GRCm39)	S505P	probably damaging	Het
Pitpnm2	C	A	5: 124,259,375 (GRCm39)	R1320L	probably damaging	Het
Plscr4	C	A	9: 92,372,281 (GRCm39)		probably benign	Het
Pot1a	C	T	6: 25,744,629 (GRCm39)	R625Q		Het
Pou4f1	A	G	14: 104,704,067 (GRCm39)	S122P	probably damaging	Het
Ppl	A	G	16: 4,907,208 (GRCm39)	V1029A	probably benign	Het
Prex1	A	G	2: 166,427,707 (GRCm39)	F982L	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rbks	A	G	5: 31,854,890 (GRCm39)	V19A	probably benign	Het
Rps18-ps5	A	G	13: 28,441,902 (GRCm39)	Y95C	probably benign	Het
Rps20	A	T	4: 3,835,280 (GRCm39)	D5E	probably benign	Het
Sacs	C	A	14: 61,447,751 (GRCm39)	P3266T	probably benign	Het
Septin7	A	G	9: 25,175,507 (GRCm39)		probably benign	Het
Slc28a2b	A	G	2: 122,352,154 (GRCm39)	T331A	probably damaging	Het
Tasor	T	C	14: 27,194,484 (GRCm39)	V1228A	probably benign	Het
Trdv5	T	C	14: 54,386,258 (GRCm39)	D69G	probably damaging	Het
Treml4	G	T	17: 48,576,781 (GRCm39)	G180C	probably damaging	Het

Other mutations in Lrrc57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Lrrc57	APN	2	120,436,532 (GRCm39)	missense	possibly damaging	0.77
IGL01347:Lrrc57	APN	2	120,439,286 (GRCm39)	missense	probably benign
IGL03258:Lrrc57	APN	2	120,435,703 (GRCm39)	missense	probably damaging	1.00
R3435:Lrrc57	UTSW	2	120,439,862 (GRCm39)	unclassified	probably benign
R7413:Lrrc57	UTSW	2	120,436,577 (GRCm39)	missense	probably damaging	1.00
R7896:Lrrc57	UTSW	2	120,438,372 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCACAATACAGTCTGGCC -3'
(R):5'- ACAGAAGGTATGTTACAGGCTTC -3'

Sequencing Primer
(F):5'- AGTCTGGCCAAGTCTTAGAGCTAC -3'
(R):5'- CAGGCTTCTGTGCGAGTAG -3'

Posted On

2021-11-19