Mutagenetix > Incidental Mutation

Incidental Mutation 'R6870:Lrrfip2'

548880

Institutional Source

Beutler Lab

Gene Symbol

Lrrfip2

Ensembl Gene

ENSMUSG00000032497

Gene Name

leucine rich repeat (in FLII) interacting protein 2

Synonyms

5133400F20Rik

MMRRC Submission

044967-MU

Accession Numbers

Essential gene?

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

Stock #

R6870 (G1)

Quality Score

63.0073

Status

Validated

Chromosome

Chromosomal Location

110946660-111054736 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 111045187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149845 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000143322
Gene: ENSMUSG00000032497

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198986

SMART Domains

Protein: ENSMUSP00000143756
Gene: ENSMUSG00000032497

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

Predicted Effect

unknown
Transcript: ENSMUST00000216430
AA Change: R249S

Predicted Effect

probably benign
Transcript: ENSMUST00000217117

Predicted Effect

probably benign
Transcript: ENSMUST00000217341

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

72% (39/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,020,608 (GRCm39)	Y62C	probably benign	Het
A1bg	T	C	15: 60,791,564 (GRCm39)	T291A	probably damaging	Het
Abcb11	A	G	2: 69,115,642 (GRCm39)	I574T	possibly damaging	Het
Abcb5	T	A	12: 118,929,000 (GRCm39)	Y17F	possibly damaging	Het
Arfgef3	A	T	10: 18,522,478 (GRCm39)	L516*	probably null	Het
Arhgap21	A	G	2: 20,885,321 (GRCm39)	S619P	probably damaging	Het
Atp2c1	A	G	9: 105,347,261 (GRCm39)	V65A	probably benign	Het
Calm3	T	A	7: 16,653,568 (GRCm39)	Q9L	probably benign	Het
Cd300c2	C	T	11: 114,891,503 (GRCm39)	D124N	probably damaging	Het
Celsr3	A	G	9: 108,706,390 (GRCm39)	T958A	probably benign	Het
Cemip2	T	C	19: 21,809,487 (GRCm39)	S956P	possibly damaging	Het
Cfap69	T	C	5: 5,671,958 (GRCm39)	T317A	probably benign	Het
Cluh	T	A	11: 74,556,210 (GRCm39)	I887K	probably damaging	Het
Dag1	A	T	9: 108,086,457 (GRCm39)	V228E	probably damaging	Het
Dhtkd1	T	C	2: 5,924,248 (GRCm39)		probably null	Het
Dnah1	T	A	14: 30,993,018 (GRCm39)	K2959*	probably null	Het
Dnttip2	T	A	3: 122,069,457 (GRCm39)	V224E	probably damaging	Het
Drosha	C	T	15: 12,907,479 (GRCm39)	P1071L	probably benign	Het
E030025P04Rik	T	A	11: 109,030,993 (GRCm39)	H84L	unknown	Het
Elac2	A	T	11: 64,890,589 (GRCm39)	S698C	probably null	Het
Elf2	A	T	3: 51,201,586 (GRCm39)	*88R	probably null	Het
Fastkd1	T	A	2: 69,538,958 (GRCm39)	I143L	probably benign	Het
Fbxw10	C	T	11: 62,746,193 (GRCm39)	R366C	probably damaging	Het
Frg2f1	T	C	4: 119,388,329 (GRCm39)	M57V	probably benign	Het
Gbp4	T	C	5: 105,273,444 (GRCm39)	S129G	probably damaging	Het
Gnat2	A	C	3: 108,002,947 (GRCm39)		probably benign	Het
Golgb1	C	A	16: 36,738,565 (GRCm39)	F2301L	probably damaging	Het
Il18bp	T	C	7: 101,666,518 (GRCm39)	T2A	possibly damaging	Het
Kpna2	T	C	11: 106,883,520 (GRCm39)		probably null	Het
Map4k1	T	G	7: 28,701,096 (GRCm39)		probably null	Het
Mcm3ap	T	C	10: 76,306,049 (GRCm39)	V54A	probably benign	Het
Nup133	A	G	8: 124,626,246 (GRCm39)	I1112T	probably benign	Het
Or8b1	A	C	9: 38,399,382 (GRCm39)	D19A	probably benign	Het
Pcdhac1	T	A	18: 37,225,140 (GRCm39)	V651D	probably damaging	Het
Pde10a	A	G	17: 9,186,356 (GRCm39)	T571A	possibly damaging	Het
Phc3	A	G	3: 30,990,910 (GRCm39)	S403P	probably damaging	Het
Prl7b1	T	C	13: 27,788,516 (GRCm39)	E113G	probably damaging	Het
Psmd2	T	G	16: 20,480,593 (GRCm39)	M744R	probably benign	Het
Qrich2	T	C	11: 116,346,156 (GRCm39)	D1556G	probably damaging	Het
Septin1	C	T	7: 126,816,876 (GRCm39)	V46M	probably benign	Het
Shank2	C	A	7: 143,606,197 (GRCm39)	Q127K	probably damaging	Het
Siah1a	A	G	8: 87,451,653 (GRCm39)	V277A	possibly damaging	Het
Slc4a7	T	A	14: 14,733,846 (GRCm38)	D85E	probably damaging	Het
Slc5a12	A	T	2: 110,472,155 (GRCm39)	I526F	probably damaging	Het
Svil	T	C	18: 5,063,231 (GRCm39)	V834A	possibly damaging	Het
Sycp1	T	A	3: 102,842,919 (GRCm39)	S17C	probably damaging	Het
Tssk6	G	A	8: 70,355,673 (GRCm39)	R239Q	probably benign	Het
Txnrd1	A	G	10: 82,709,042 (GRCm39)	D80G	probably benign	Het
Tyk2	A	G	9: 21,036,250 (GRCm39)	F79S	probably damaging	Het
Tyrp1	T	C	4: 80,769,014 (GRCm39)	S503P	probably benign	Het
Upf1	A	T	8: 70,794,211 (GRCm39)	C232S	probably benign	Het
Zeb2	G	A	2: 44,878,922 (GRCm39)	T1080I	probably 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
R7099:Lrrfip2	UTSW	9	111,002,176 (GRCm39)	missense	probably benign	0.04
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'- TGTTCCAGATGTGAGGCTACG -3'
(R):5'- GGCAGCAAGCTTTGTATGTATC -3'

Sequencing Primer
(F):5'- CTACGAAAGCTTGCTGGAGAAAAG -3'
(R):5'- GTCCTGGAACTCACTATGTAGAC -3'

Posted On

2019-05-15