Mutagenetix > Incidental Mutation

Incidental Mutation 'R1101:Lrrfip2'

98103

Institutional Source

Beutler Lab

Gene Symbol

Lrrfip2

Ensembl Gene

ENSMUSG00000032497

Gene Name

leucine rich repeat (in FLII) interacting protein 2

Synonyms

MMRRC Submission

039174-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1101 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111117592-111225668 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111190225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 275 (R275W)

Ref Sequence

ENSEMBL: ENSMUSP00000149845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035078] [ENSMUST00000098340] [ENSMUST00000196703] [ENSMUST00000196981] [ENSMUST00000197241] [ENSMUST00000197256] [ENSMUST00000198986] [ENSMUST00000200094] [ENSMUST00000216430] [ENSMUST00000217117] [ENSMUST00000217341]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035078
AA Change: R109W

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

SMART Domains

Protein: ENSMUSP00000035078
Gene: ENSMUSG00000032497
AA Change: R109W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000098340
AA Change: R94W

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

SMART Domains

Protein: ENSMUSP00000095944
Gene: ENSMUSG00000032497
AA Change: R94W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196703
AA Change: R106W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196981
AA Change: R94W

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

SMART Domains

Protein: ENSMUSP00000142851
Gene: ENSMUSG00000032497
AA Change: R94W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197241
AA Change: R109W

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

SMART Domains

Protein: ENSMUSP00000142816
Gene: ENSMUSG00000032497
AA Change: R109W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197256
AA Change: R131W

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

SMART Domains

Protein: ENSMUSP00000143322
Gene: ENSMUSG00000032497
AA Change: R131W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197540

Predicted Effect

probably damaging
Transcript: ENSMUST00000198986
AA Change: R47W

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

SMART Domains

Protein: ENSMUSP00000143756
Gene: ENSMUSG00000032497
AA Change: R47W

Domain	Start	End	E-Value	Type
Pfam:DUF2051	10	174	1.9e-56	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000200094
AA Change: R94W

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

SMART Domains

Protein: ENSMUSP00000142471
Gene: ENSMUSG00000032497
AA Change: R94W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216430
AA Change: R70W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217117
AA Change: R67W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217341
AA Change: R275W

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 91.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,411	I249M	possibly damaging	Het
2610021A01Rik	C	A	7: 41,627,359	H829N	probably damaging	Het
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
Abi3bp	G	T	16: 56,606,158	R512L	probably damaging	Het
Acot2	T	G	12: 83,992,850	S378A	probably benign	Het
Akap9	T	C	5: 4,046,205	I2360T	probably benign	Het
Bank1	T	C	3: 136,283,864	D155G	probably benign	Het
Bsn	A	G	9: 108,116,411	V714A	probably damaging	Het
Cdh15	G	A	8: 122,860,846	V170I	possibly damaging	Het
Clcn2	G	A	16: 20,703,595	T787I	probably damaging	Het
Dapk1	A	G	13: 60,716,785	H131R	probably damaging	Het
Dct	T	G	14: 118,036,622	D291A	probably damaging	Het
Dhx37	A	G	5: 125,415,152	Y1128H	probably damaging	Het
Dip2c	A	T	13: 9,634,744	I1174F	probably damaging	Het
Eif3l	A	G	15: 79,075,267	Y3C	probably damaging	Het
Enpp5	A	G	17: 44,081,367	N229S	possibly damaging	Het
Fam83b	A	T	9: 76,545,670	H38Q	possibly damaging	Het
Fcamr	T	A	1: 130,814,486		probably null	Het
Hdac2	G	A	10: 36,991,809	V184I	probably damaging	Het
Igf2bp2	A	T	16: 22,162,950	L5Q	probably damaging	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Ireb2	T	A	9: 54,909,702	H951Q	probably benign	Het
Lman1	T	A	18: 65,987,898	M418L	probably benign	Het
Mast3	T	A	8: 70,786,663	I424F	probably damaging	Het
Mep1a	T	C	17: 43,491,693	D147G	probably benign	Het
Mtr	C	A	13: 12,189,525	E1128D	possibly damaging	Het
Ogfod1	C	A	8: 94,064,304	S534R	probably benign	Het
Olfr1212	A	T	2: 88,958,984	I173F	possibly damaging	Het
Olfr1290	T	C	2: 111,489,442	T239A	probably damaging	Het
Olfr173	A	G	16: 58,797,252	V198A	probably benign	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pcdh18	T	A	3: 49,753,379	D882V	probably damaging	Het
Pik3cg	C	T	12: 32,195,646	G868S	probably null	Het
Plppr5	T	G	3: 117,662,523	M231R	probably damaging	Het
Polr2a	T	C	11: 69,748,071	T46A	probably benign	Het
Ppp4r3a	C	A	12: 101,051,571	R440L	probably damaging	Het
Serpinb9e	A	T	13: 33,260,088	T364S	probably benign	Het
Sirt3	A	G	7: 140,869,628	V135A	possibly damaging	Het
Supt16	T	C	14: 52,171,439	N826S	probably null	Het
Tbr1	T	C	2: 61,804,739	I11T	probably benign	Het
Trim72	A	G	7: 128,010,247	E407G	possibly damaging	Het
Vps72	C	A	3: 95,119,176	T144K	probably damaging	Het

Other mutations in Lrrfip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Lrrfip2	APN	9	111219715	missense	probably damaging	1.00
IGL01408:Lrrfip2	APN	9	111214216	missense	probably benign	0.11
IGL01462:Lrrfip2	APN	9	111205849	critical splice donor site	probably null
IGL01845:Lrrfip2	APN	9	111199660	splice site	probably benign
IGL02218:Lrrfip2	APN	9	111219725	missense	probably benign
IGL02986:Lrrfip2	APN	9	111161393	splice site	probably null
R0091:Lrrfip2	UTSW	9	111214243	missense	probably damaging	1.00
R1722:Lrrfip2	UTSW	9	111199761	missense	probably damaging	1.00
R2334:Lrrfip2	UTSW	9	111219725	missense	probably benign
R2336:Lrrfip2	UTSW	9	111222215	missense	probably damaging	1.00
R3103:Lrrfip2	UTSW	9	111222210	missense	probably damaging	1.00
R4357:Lrrfip2	UTSW	9	111199687	missense	probably damaging	1.00
R5010:Lrrfip2	UTSW	9	111223972	missense	possibly damaging	0.79
R5072:Lrrfip2	UTSW	9	111199804	missense	probably damaging	1.00
R6026:Lrrfip2	UTSW	9	111214171	missense	probably damaging	1.00
R6307:Lrrfip2	UTSW	9	111223953	missense	probably damaging	1.00
R6870:Lrrfip2	UTSW	9	111216119	intron	probably benign
R7099:Lrrfip2	UTSW	9	111173108	missense	probably benign	0.04
R7312:Lrrfip2	UTSW	9	111177457	splice site	probably null
R7429:Lrrfip2	UTSW	9	111185126	splice site	probably null
R7847:Lrrfip2	UTSW	9	111213880	missense	probably damaging	1.00
R7866:Lrrfip2	UTSW	9	111193081	missense	possibly damaging	0.95
R7912:Lrrfip2	UTSW	9	111205768	missense	probably damaging	1.00
R8872:Lrrfip2	UTSW	9	111205756	missense	possibly damaging	0.95
R9103:Lrrfip2	UTSW	9	111205772	missense	probably damaging	0.99
R9325:Lrrfip2	UTSW	9	111161361	missense	possibly damaging	0.68
Z1176:Lrrfip2	UTSW	9	111161340	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTCAGCAGGTTAGGAACCAAGAC -3'
(R):5'- TGATGCCCATGAACTGGACAGAAAC -3'

Sequencing Primer
(F):5'- CTCCCGTGTTTGAGACCAG -3'
(R):5'- TGAACTGGACAGAAACCCTACTTTG -3'

Posted On

2014-01-05