Mutagenetix > Incidental Mutation

Incidental Mutation 'R7099:Lrrfip2'

550713

Institutional Source

Beutler Lab

Gene Symbol

Lrrfip2

Ensembl Gene

ENSMUSG00000032497

Gene Name

leucine rich repeat (in FLII) interacting protein 2

Synonyms

5133400F20Rik

MMRRC Submission

045191-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R7099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110946660-111054736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111002176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 92 (R92G)

Ref Sequence

ENSEMBL: ENSMUSP00000143322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035078] [ENSMUST00000098340] [ENSMUST00000196703] [ENSMUST00000196981] [ENSMUST00000197241] [ENSMUST00000197256] [ENSMUST00000200094] [ENSMUST00000217341]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035078

SMART Domains

Protein: ENSMUSP00000035078
Gene: ENSMUSG00000032497

Domain	Start	End	E-Value	Type
Pfam:DUF2051	31	340	2.5e-106	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098340

SMART Domains

Protein: ENSMUSP00000095944
Gene: ENSMUSG00000032497

Domain	Start	End	E-Value	Type
Pfam:DUF2051	31	326	2.7e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196703

Predicted Effect

probably benign
Transcript: ENSMUST00000196981

SMART Domains

Protein: ENSMUSP00000142851
Gene: ENSMUSG00000032497

Domain	Start	End	E-Value	Type
Pfam:DUF2051	31	350	4.5e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197241

SMART Domains

Protein: ENSMUSP00000142816
Gene: ENSMUSG00000032497

Domain	Start	End	E-Value	Type
Pfam:DUF2051	31	341	1.3e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197256
AA Change: R92G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000143322
Gene: ENSMUSG00000032497
AA Change: R92G

Domain	Start	End	E-Value	Type
Pfam:DUF2051	31	363	2.9e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200094

SMART Domains

Protein: ENSMUSP00000142471
Gene: ENSMUSG00000032497

Domain	Start	End	E-Value	Type
Pfam:DUF2051	31	174	4.9e-50	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217341
AA Change: R69G

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.1931

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	C	T	16: 64,591,151 (GRCm39)	A26T	probably benign	Het
Acly	T	C	11: 100,383,117 (GRCm39)		probably null	Het
Adam29	A	C	8: 56,324,439 (GRCm39)	L672V	probably benign	Het
Adgrf1	T	C	17: 43,621,493 (GRCm39)	S577P	probably benign	Het
Ankar	T	C	1: 72,682,452 (GRCm39)	K1371R	probably damaging	Het
Arid5b	T	C	10: 67,934,009 (GRCm39)	D631G	probably damaging	Het
Brpf3	T	C	17: 29,025,611 (GRCm39)	V228A	probably benign	Het
C3	T	C	17: 57,513,276 (GRCm39)	D1457G	probably benign	Het
Calr4	A	T	4: 109,099,426 (GRCm39)	N143I	probably benign	Het
Catsperd	T	G	17: 56,935,811 (GRCm39)		probably null	Het
Cobl	T	A	11: 12,246,540 (GRCm39)	H154L		Het
Cryzl2	G	A	1: 157,316,154 (GRCm39)		probably benign	Het
Dennd1c	A	G	17: 57,374,915 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,923,698 (GRCm39)	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,951,225 (GRCm39)	S218P	probably benign	Het
Fbxw27	G	T	9: 109,599,223 (GRCm39)	T398N	probably damaging	Het
Fhod3	A	G	18: 25,223,219 (GRCm39)	D855G	probably benign	Het
Flii	A	G	11: 60,611,481 (GRCm39)	V410A	probably benign	Het
Fsip2	C	A	2: 82,817,968 (GRCm39)	P4567Q	probably benign	Het
Fxyd1	T	G	7: 30,752,458 (GRCm39)	Q66H	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gramd2b	C	T	18: 56,625,017 (GRCm39)	T370I	probably benign	Het
Kdr	A	G	5: 76,104,993 (GRCm39)	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,658,115 (GRCm39)	G166D	probably damaging	Het
Map1a	T	A	2: 121,130,998 (GRCm39)	S605T	probably benign	Het
Megf8	A	T	7: 25,045,945 (GRCm39)	D1496V	probably damaging	Het
Mgam	T	C	6: 40,638,650 (GRCm39)	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,539,195 (GRCm39)	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,474,506 (GRCm39)		probably null	Het
Ndst1	A	G	18: 60,828,572 (GRCm39)	F661L	possibly damaging	Het
Neu3	G	A	7: 99,463,027 (GRCm39)	T232M	possibly damaging	Het
Nf1	T	C	11: 79,461,156 (GRCm39)	S741P	probably benign	Het
Nr5a1	G	T	2: 38,584,148 (GRCm39)	L424M	probably damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or4d10c	A	G	19: 12,065,530 (GRCm39)	F209L	possibly damaging	Het
Or4k51	A	T	2: 111,585,421 (GRCm39)	T276S	probably benign	Het
Or6d12	T	A	6: 116,493,721 (GRCm39)	*328R	probably null	Het
Or8g33	G	A	9: 39,337,599 (GRCm39)	T256I	probably benign	Het
Otud7a	A	G	7: 63,407,203 (GRCm39)	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,832 (GRCm39)	L237S	probably damaging	Het
Pias1	A	G	9: 62,788,427 (GRCm39)	M79T		Het
Prom2	T	C	2: 127,381,698 (GRCm39)	E206G	probably benign	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Sdad1	A	G	5: 92,441,832 (GRCm39)	V365A	possibly damaging	Het
Sdk2	T	C	11: 113,725,731 (GRCm39)	T1173A	probably damaging	Het
Sidt1	A	G	16: 44,063,860 (GRCm39)	S803P	probably damaging	Het
Slc45a1	A	T	4: 150,714,030 (GRCm39)	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750 (GRCm38)	H53Q	probably damaging	Het
Spata22	T	C	11: 73,231,225 (GRCm39)	F160L	probably benign	Het
Stag1	G	A	9: 100,826,879 (GRCm39)	V949I	probably benign	Het
Syne1	T	C	10: 5,073,744 (GRCm39)	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,981,520 (GRCm39)	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,607,275 (GRCm39)	M226I	probably benign	Het
Tep1	T	C	14: 51,081,944 (GRCm39)		probably null	Het
Tigd2	C	A	6: 59,187,166 (GRCm39)	T11K	probably damaging	Het
Trappc9	A	G	15: 72,565,468 (GRCm39)	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,388,848 (GRCm39)	M455T	probably benign	Het
Usp42	A	T	5: 143,712,400 (GRCm39)	S95T	probably damaging	Het
Usp44	T	C	10: 93,686,049 (GRCm39)	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,320 (GRCm39)	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,675,540 (GRCm39)	I616N	probably damaging	Het
Zfp352	A	G	4: 90,113,117 (GRCm39)	K419R	probably benign	Het
Zfp595	T	A	13: 67,465,711 (GRCm39)	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,822,161 (GRCm39)	S301T	probably benign	Het
Zzef1	T	C	11: 72,763,475 (GRCm39)	V1374A	possibly damaging	Het

Other mutations in Lrrfip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Lrrfip2	APN	9	111,048,783 (GRCm39)	missense	probably damaging	1.00
IGL01408:Lrrfip2	APN	9	111,043,284 (GRCm39)	missense	probably benign	0.11
IGL01462:Lrrfip2	APN	9	111,034,917 (GRCm39)	critical splice donor site	probably null
IGL01845:Lrrfip2	APN	9	111,028,728 (GRCm39)	splice site	probably benign
IGL02218:Lrrfip2	APN	9	111,048,793 (GRCm39)	missense	probably benign
IGL02986:Lrrfip2	APN	9	110,990,461 (GRCm39)	splice site	probably null
R0091:Lrrfip2	UTSW	9	111,043,311 (GRCm39)	missense	probably damaging	1.00
R1101:Lrrfip2	UTSW	9	111,019,293 (GRCm39)	missense	probably damaging	1.00
R1722:Lrrfip2	UTSW	9	111,028,829 (GRCm39)	missense	probably damaging	1.00
R2334:Lrrfip2	UTSW	9	111,048,793 (GRCm39)	missense	probably benign
R2336:Lrrfip2	UTSW	9	111,051,283 (GRCm39)	missense	probably damaging	1.00
R3103:Lrrfip2	UTSW	9	111,051,278 (GRCm39)	missense	probably damaging	1.00
R4357:Lrrfip2	UTSW	9	111,028,755 (GRCm39)	missense	probably damaging	1.00
R5010:Lrrfip2	UTSW	9	111,053,040 (GRCm39)	missense	possibly damaging	0.79
R5072:Lrrfip2	UTSW	9	111,028,872 (GRCm39)	missense	probably damaging	1.00
R6026:Lrrfip2	UTSW	9	111,043,239 (GRCm39)	missense	probably damaging	1.00
R6307:Lrrfip2	UTSW	9	111,053,021 (GRCm39)	missense	probably damaging	1.00
R6870:Lrrfip2	UTSW	9	111,045,187 (GRCm39)	intron	probably benign
R7312:Lrrfip2	UTSW	9	111,006,525 (GRCm39)	splice site	probably null
R7429:Lrrfip2	UTSW	9	111,014,194 (GRCm39)	splice site	probably null
R7847:Lrrfip2	UTSW	9	111,042,948 (GRCm39)	missense	probably damaging	1.00
R7866:Lrrfip2	UTSW	9	111,022,149 (GRCm39)	missense	possibly damaging	0.95
R7912:Lrrfip2	UTSW	9	111,034,836 (GRCm39)	missense	probably damaging	1.00
R8872:Lrrfip2	UTSW	9	111,034,824 (GRCm39)	missense	possibly damaging	0.95
R9103:Lrrfip2	UTSW	9	111,034,840 (GRCm39)	missense	probably damaging	0.99
R9325:Lrrfip2	UTSW	9	110,990,429 (GRCm39)	missense	possibly damaging	0.68
Z1176:Lrrfip2	UTSW	9	110,990,408 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTTCAGCAACAATGTCTACTG -3'
(R):5'- ATCCTGAAGTCTCTGGGAGAAG -3'

Sequencing Primer
(F):5'- TCAGCAACAATGTCTACTGAAAAAG -3'
(R):5'- AGTCTCTGGGAGAAGCTATTATTCC -3'

Posted On

2019-05-15