Mutagenetix > Incidental Mutation

Incidental Mutation 'R5010:Lrrfip2'

390445

Institutional Source

Beutler Lab

Gene Symbol

Lrrfip2

Ensembl Gene

ENSMUSG00000032497

Gene Name

leucine rich repeat (in FLII) interacting protein 2

Synonyms

MMRRC Submission

042601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111117592-111225668 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111223972 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 375 (I375T)

Ref Sequence

ENSEMBL: ENSMUSP00000149212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035078] [ENSMUST00000035079] [ENSMUST00000098340] [ENSMUST00000135218] [ENSMUST00000196981] [ENSMUST00000197241] [ENSMUST00000197256] [ENSMUST00000216430] [ENSMUST00000217117] [ENSMUST00000217341]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035078
AA Change: I387T

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035078
Gene: ENSMUSG00000032497
AA Change: I387T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035079

SMART Domains

Protein: ENSMUSP00000035079
Gene: ENSMUSG00000032498

Domain	Start	End	E-Value	Type
HATPase_c	23	158	4.57e-1	SMART
DNA_mis_repair	216	335	1.08e-44	SMART
low complexity region	363	375	N/A	INTRINSIC
low complexity region	429	454	N/A	INTRINSIC
Pfam:Mlh1_C	504	760	8.3e-100	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098340
AA Change: I372T

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095944
Gene: ENSMUSG00000032497
AA Change: I372T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196906

Predicted Effect

probably benign
Transcript: ENSMUST00000196981
AA Change: I396T

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142851
Gene: ENSMUSG00000032497
AA Change: I396T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197241
AA Change: I387T

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142816
Gene: ENSMUSG00000032497
AA Change: I387T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197256
AA Change: I409T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000143322
Gene: ENSMUSG00000032497
AA Change: I409T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200145

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216430
AA Change: I375T

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217117
AA Change: I345T

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000217341

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,422,804	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,574,428		probably benign	Het
Actr5	T	A	2: 158,635,363	D411E	probably benign	Het
Ang5	A	G	14: 43,962,845	D122G	probably benign	Het
Atg9a	A	T	1: 75,186,060		probably null	Het
C530008M17Rik	G	C	5: 76,657,834		probably benign	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Ddx11	G	A	17: 66,147,722	V642M	possibly damaging	Het
Dis3l2	G	A	1: 86,760,321	V100I	probably benign	Het
Echdc2	T	C	4: 108,172,131	V111A	probably benign	Het
Egr1	A	G	18: 34,863,658	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702	K200R	possibly damaging	Het
Exosc8	T	C	3: 54,729,223	D229G	probably benign	Het
Ext1	T	A	15: 53,092,412	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,403,424	N31S	probably benign	Het
Gja8	T	C	3: 96,919,849	T166A	probably benign	Het
Gm21814	T	A	6: 149,583,618		noncoding transcript	Het
Gm21915	T	A	9: 40,670,648	H12Q	probably benign	Het
Gm597	A	G	1: 28,777,862	I363T	possibly damaging	Het
Hgsnat	G	A	8: 25,947,960	R527*	probably null	Het
Iqgap2	A	G	13: 95,673,743	F731S	probably benign	Het
Jchain	T	C	5: 88,522,505	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,312,962	C171R	probably benign	Het
Kcnk3	C	A	5: 30,622,805	R400S	possibly damaging	Het
Klhl28	C	T	12: 64,957,227	E171K	probably damaging	Het
Mccc1	T	C	3: 35,979,017	N326S	probably benign	Het
Med13l	T	C	5: 118,593,550	V97A	possibly damaging	Het
Mertk	C	A	2: 128,784,000	T685K	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Myom2	G	A	8: 15,083,310	V401M	probably damaging	Het
Nme5	A	C	18: 34,578,685	M1R	probably null	Het
Nop2	T	C	6: 125,133,763	S68P	probably benign	Het
Notch1	A	T	2: 26,476,114	D809E	possibly damaging	Het
Olfr292	T	C	7: 86,694,585	I43T	possibly damaging	Het
Ppat	C	T	5: 76,928,678		probably benign	Het
Prss23	T	A	7: 89,510,214	M216L	probably benign	Het
Psg18	A	T	7: 18,349,354	V171D	probably damaging	Het
Psg28	A	G	7: 18,427,891	V229A	probably damaging	Het
Qser1	T	C	2: 104,787,831	N879D	possibly damaging	Het
Rpap1	T	C	2: 119,770,041	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926	S411P	probably damaging	Het
Rxfp2	T	A	5: 150,067,360	W519R	probably damaging	Het
Scpep1	T	A	11: 88,941,349	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,379,649	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,671,444	M367K	probably benign	Het
Skint10	T	G	4: 112,727,672	I213L	probably benign	Het
Skint5	T	C	4: 113,546,537	T1163A	unknown	Het
Slamf9	A	T	1: 172,476,213	I42L	possibly damaging	Het
Slc1a3	T	C	15: 8,650,846		probably benign	Het
Smad6	T	A	9: 63,953,900	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,324	V26E	probably damaging	Het
Taf4b	A	G	18: 14,822,172	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,780,092	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,868,475	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,293,936		probably benign	Het
Timm50	A	T	7: 28,306,859	D272E	probably benign	Het
Ttn	T	G	2: 76,900,511		probably benign	Het
Vps13c	T	A	9: 67,916,379	F1362I	probably benign	Het
Vwf	T	C	6: 125,566,257	S154P	probably benign	Het
Zfp445	T	C	9: 122,852,345	R844G	probably benign	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
R1101:Lrrfip2	UTSW	9	111190225	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
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'- CAGGTTTTGCAGCTTTTACACATTG -3'
(R):5'- GAAGGGGCTTGTGTCAATGTAC -3'

Sequencing Primer
(F):5'- GCACCATTGCTTAGGCCTCTAG -3'
(R):5'- GGCTTGTGTCAATGTACAAAAGAGTC -3'

Posted On

2016-06-06