Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Lrfn5'

82968

Institutional Source

Beutler Lab

Gene Symbol

Lrfn5

Ensembl Gene

ENSMUSG00000035653

Gene Name

leucine rich repeat and fibronectin type III domain containing 5

Synonyms

MMRRC Submission

039102-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61569936-61905128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61890223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 504 (G504D)

Ref Sequence

ENSEMBL: ENSMUSP00000113123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055815] [ENSMUST00000119481]

AlphaFold

Q8BXA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000055815
AA Change: G504D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: G504D

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LRRNT	19	55	1.11e1	SMART
LRR	74	97	3.07e-1	SMART
LRR_TYP	98	121	1.2e-3	SMART
LRR_TYP	122	145	8.94e-3	SMART
LRR	146	169	6.58e0	SMART
LRR_TYP	170	193	8.34e-3	SMART
LRR	194	218	2.47e1	SMART
LRRCT	240	285	1.65e-2	SMART
IGc2	299	364	3.53e-13	SMART
low complexity region	393	412	N/A	INTRINSIC
Blast:FN3	414	495	2e-48	BLAST
transmembrane domain	528	550	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119481
AA Change: G504D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: G504D

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LRRNT	19	55	1.11e1	SMART
LRR	74	97	3.07e-1	SMART
LRR_TYP	98	121	1.2e-3	SMART
LRR_TYP	122	145	8.94e-3	SMART
LRR	146	169	6.58e0	SMART
LRR_TYP	170	193	8.34e-3	SMART
LRR	194	218	2.47e1	SMART
LRRCT	240	285	1.65e-2	SMART
IGc2	299	364	3.53e-13	SMART
low complexity region	393	412	N/A	INTRINSIC
Blast:FN3	414	495	2e-48	BLAST
transmembrane domain	528	550	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC

Meta Mutation Damage Score

0.6708

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (70/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,997 (GRCm39)		probably null	Het
Adam18	T	C	8: 25,137,869 (GRCm39)	T324A	probably benign	Het
AI429214	A	G	8: 37,461,473 (GRCm39)	Q207R	probably benign	Het
Asic5	C	T	3: 81,915,755 (GRCm39)		probably benign	Het
Atp13a1	T	C	8: 70,254,794 (GRCm39)		probably null	Het
Atp6v0a1	T	A	11: 100,946,317 (GRCm39)	L770*	probably null	Het
B3gnt5	T	A	16: 19,588,760 (GRCm39)	D326E	probably damaging	Het
Btbd9	T	A	17: 30,518,607 (GRCm39)	D451V	probably damaging	Het
Cd46	T	C	1: 194,724,300 (GRCm39)	*366W	probably null	Het
Cdcp3	T	C	7: 130,839,911 (GRCm39)	L611P	probably damaging	Het
Cenpc1	A	T	5: 86,185,767 (GRCm39)	V248E	probably damaging	Het
Cep152	A	G	2: 125,436,819 (GRCm39)	S574P	probably benign	Het
Cep250	A	G	2: 155,806,209 (GRCm39)		probably benign	Het
Chd2	A	G	7: 73,128,412 (GRCm39)	S858P	probably damaging	Het
Cxcl1	A	T	5: 91,039,626 (GRCm39)	K85*	probably null	Het
Daam1	A	C	12: 71,962,558 (GRCm39)	K90T	unknown	Het
Dip2c	G	A	13: 9,626,944 (GRCm39)	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,177,987 (GRCm39)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,579,710 (GRCm39)	V3081A	probably damaging	Het
Dnah9	A	T	11: 65,896,663 (GRCm39)		probably null	Het
Efemp1	A	G	11: 28,804,538 (GRCm39)	E22G	probably damaging	Het
Ephb6	A	G	6: 41,591,038 (GRCm39)	D65G	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,807,436 (GRCm39)	T1252S	probably benign	Het
Gm12500	T	C	3: 107,993,792 (GRCm39)		probably null	Het
Gm6327	T	C	16: 12,578,977 (GRCm39)		noncoding transcript	Het
Golga4	T	C	9: 118,366,341 (GRCm39)	I365T	probably damaging	Het
Gp2	A	T	7: 119,053,766 (GRCm39)	L65Q	probably damaging	Het
Ice1	C	A	13: 70,750,546 (GRCm39)	V1847L	probably benign	Het
Ift172	T	C	5: 31,415,262 (GRCm39)		probably benign	Het
Kbtbd7	A	G	14: 79,664,870 (GRCm39)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,332,576 (GRCm39)	T235A	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Lgals8	A	T	13: 12,466,276 (GRCm39)		probably benign	Het
Map6	G	A	7: 98,985,950 (GRCm39)	G821D	possibly damaging	Het
Mcpt8	T	C	14: 56,321,257 (GRCm39)		probably benign	Het
Myh13	T	A	11: 67,223,346 (GRCm39)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,462,347 (GRCm39)	C350Y	probably benign	Het
Naa25	T	C	5: 121,576,779 (GRCm39)		probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm3	C	A	3: 114,895,635 (GRCm39)	S172R	probably benign	Het
Or13e8	A	G	4: 43,696,706 (GRCm39)	S156P	probably damaging	Het
Or1j14	A	G	2: 36,418,020 (GRCm39)	I199V	probably benign	Het
Or4c1	A	T	2: 89,133,528 (GRCm39)	I136N	probably damaging	Het
Or5d40	A	T	2: 88,015,322 (GRCm39)	T34S	probably benign	Het
Pacs1	A	T	19: 5,193,857 (GRCm39)	D557E	probably damaging	Het
Phactr2	T	C	10: 13,122,883 (GRCm39)	D343G	possibly damaging	Het
Pkd2l2	A	G	18: 34,561,305 (GRCm39)	T438A	probably damaging	Het
Pld2	T	C	11: 70,447,907 (GRCm39)	W857R	probably damaging	Het
Pm20d2	T	A	4: 33,174,734 (GRCm39)		probably benign	Het
Rilpl1	A	G	5: 124,639,951 (GRCm39)	I122T	possibly damaging	Het
Rilpl1	A	G	5: 124,639,934 (GRCm39)	S156P	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,284,078 (GRCm39)	V260A	probably benign	Het
Skint1	T	G	4: 111,885,412 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,850,725 (GRCm39)	F533S	probably benign	Het
Slc38a4	C	T	15: 96,903,739 (GRCm39)	V421M	probably benign	Het
Snx14	A	G	9: 88,282,774 (GRCm39)		probably null	Het
Spag7	A	G	11: 70,560,008 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,109,381 (GRCm39)	Q55L	probably damaging	Het
Tm9sf1	T	C	14: 55,880,392 (GRCm39)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,713,699 (GRCm39)	T122A	probably benign	Het
Tmem59l	G	A	8: 70,938,710 (GRCm39)	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,602,122 (GRCm39)	T396S	probably benign	Het
Usp24	T	A	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Usp24	A	G	4: 106,270,875 (GRCm39)		probably null	Het
Utp25	A	T	1: 192,797,011 (GRCm39)	N573K	probably damaging	Het
Vmn2r53	A	G	7: 12,335,319 (GRCm39)	F114L	probably damaging	Het
Zfp626	G	A	7: 27,517,907 (GRCm39)	R296H	probably damaging	Het

Other mutations in Lrfn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Lrfn5	APN	12	61,890,912 (GRCm39)	missense	probably benign
IGL02010:Lrfn5	APN	12	61,886,469 (GRCm39)	missense	probably damaging	0.96
IGL03033:Lrfn5	APN	12	61,886,833 (GRCm39)	missense	probably damaging	1.00
IGL03094:Lrfn5	APN	12	61,886,532 (GRCm39)	missense	probably benign	0.00
IGL03207:Lrfn5	APN	12	61,890,112 (GRCm39)	missense	probably damaging	1.00
falstaffian	UTSW	12	61,890,348 (GRCm39)	missense	probably benign	0.21
PIT4696001:Lrfn5	UTSW	12	61,890,343 (GRCm39)	missense	probably damaging	1.00
R0402:Lrfn5	UTSW	12	61,886,803 (GRCm39)	missense	probably benign	0.22
R0738:Lrfn5	UTSW	12	61,887,378 (GRCm39)	nonsense	probably null
R0744:Lrfn5	UTSW	12	61,886,454 (GRCm39)	missense	probably damaging	1.00
R0833:Lrfn5	UTSW	12	61,886,454 (GRCm39)	missense	probably damaging	1.00
R0973:Lrfn5	UTSW	12	61,890,223 (GRCm39)	missense	probably damaging	1.00
R0974:Lrfn5	UTSW	12	61,890,223 (GRCm39)	missense	probably damaging	1.00
R1073:Lrfn5	UTSW	12	61,887,595 (GRCm39)	missense	probably damaging	1.00
R1332:Lrfn5	UTSW	12	61,904,314 (GRCm39)	splice site	probably benign
R1500:Lrfn5	UTSW	12	61,886,527 (GRCm39)	missense	probably damaging	1.00
R2039:Lrfn5	UTSW	12	61,887,109 (GRCm39)	missense	possibly damaging	0.82
R3834:Lrfn5	UTSW	12	61,886,816 (GRCm39)	missense	probably damaging	1.00
R4171:Lrfn5	UTSW	12	61,890,168 (GRCm39)	missense	probably damaging	1.00
R4212:Lrfn5	UTSW	12	61,890,606 (GRCm39)	missense	probably benign
R4394:Lrfn5	UTSW	12	61,890,276 (GRCm39)	missense	probably damaging	1.00
R4578:Lrfn5	UTSW	12	61,890,763 (GRCm39)	missense	probably benign
R4661:Lrfn5	UTSW	12	61,886,433 (GRCm39)	missense	probably damaging	1.00
R4730:Lrfn5	UTSW	12	61,887,505 (GRCm39)	missense	probably benign	0.03
R4955:Lrfn5	UTSW	12	61,886,764 (GRCm39)	missense	probably benign	0.29
R4968:Lrfn5	UTSW	12	61,886,461 (GRCm39)	missense	probably damaging	1.00
R4970:Lrfn5	UTSW	12	61,886,461 (GRCm39)	missense	probably damaging	1.00
R5078:Lrfn5	UTSW	12	61,890,660 (GRCm39)	missense	possibly damaging	0.47
R5165:Lrfn5	UTSW	12	61,886,410 (GRCm39)	missense	possibly damaging	0.89
R5768:Lrfn5	UTSW	12	61,886,509 (GRCm39)	missense	probably benign	0.44
R5892:Lrfn5	UTSW	12	61,890,204 (GRCm39)	missense	probably damaging	1.00
R6133:Lrfn5	UTSW	12	61,890,574 (GRCm39)	missense	probably benign	0.22
R6211:Lrfn5	UTSW	12	61,886,256 (GRCm39)	missense	probably benign	0.00
R6297:Lrfn5	UTSW	12	61,890,348 (GRCm39)	missense	probably benign	0.21
R6341:Lrfn5	UTSW	12	61,890,368 (GRCm39)	nonsense	probably null
R6861:Lrfn5	UTSW	12	61,886,476 (GRCm39)	missense	probably damaging	1.00
R7179:Lrfn5	UTSW	12	61,890,768 (GRCm39)	missense	probably benign
R7392:Lrfn5	UTSW	12	61,887,090 (GRCm39)	missense	probably benign	0.00
R8224:Lrfn5	UTSW	12	61,890,192 (GRCm39)	missense	possibly damaging	0.91
R8261:Lrfn5	UTSW	12	61,886,323 (GRCm39)	missense	probably damaging	1.00
R9528:Lrfn5	UTSW	12	61,886,408 (GRCm39)	missense	probably benign	0.28
R9641:Lrfn5	UTSW	12	61,886,540 (GRCm39)	missense	probably damaging	1.00
R9652:Lrfn5	UTSW	12	61,890,418 (GRCm39)	missense	probably damaging	0.99
R9653:Lrfn5	UTSW	12	61,890,418 (GRCm39)	missense	probably damaging	0.99
Z1177:Lrfn5	UTSW	12	61,886,603 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTCCTGCTTTGCCAAGCATTG -3'
(R):5'- CGTGACCTTGTGTTGCCCATTATTG -3'

Sequencing Primer
(F):5'- CTGTAACAATGAGCTTTCGGC -3'
(R):5'- GTGTTGCCCATTATTGTTACAAACC -3'

Posted On

2013-11-08