Mutagenetix > Incidental Mutation

Incidental Mutation 'R8961:Elfn2'

682360

Institutional Source

Beutler Lab

Gene Symbol

Elfn2

Ensembl Gene

ENSMUSG00000043460

Gene Name

leucine rich repeat and fibronectin type III, extracellular 2

Synonyms

Lrrc62

MMRRC Submission

068795-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78551531-78602971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78557378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 390 (S390G)

Ref Sequence

ENSEMBL: ENSMUSP00000155111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088592] [ENSMUST00000229441]

AlphaFold

Q68FM6

Predicted Effect

probably benign
Transcript: ENSMUST00000088592
AA Change: S390G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000085960
Gene: ENSMUSG00000043460
AA Change: S390G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
LRR	78	101	9.96e-1	SMART
LRR	103	125	5.56e0	SMART
LRR	126	149	6.96e0	SMART
LRR	150	173	1.66e1	SMART
LRRCT	185	240	9.74e-2	SMART
FN3	293	371	4.56e0	SMART
transmembrane domain	397	419	N/A	INTRINSIC
low complexity region	583	598	N/A	INTRINSIC
low complexity region	633	647	N/A	INTRINSIC
low complexity region	686	696	N/A	INTRINSIC
low complexity region	754	768	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229441
AA Change: S390G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	A	3: 19,664,633 (GRCm39)		probably benign	Het
Angptl6	T	C	9: 20,789,467 (GRCm39)	T142A	probably benign	Het
Atp6v1b2	A	G	8: 69,555,414 (GRCm39)	I202V	probably benign	Het
B3gat2	A	T	1: 23,801,900 (GRCm39)	D62V	probably benign	Het
Ccdc180	A	G	4: 45,929,573 (GRCm39)	D1211G	possibly damaging	Het
Ccp110	T	G	7: 118,322,110 (GRCm39)	D588E	probably damaging	Het
Cdh6	A	T	15: 13,041,447 (GRCm39)	I539K	probably benign	Het
Chd5	A	G	4: 152,467,489 (GRCm39)		probably benign	Het
Crim1	T	C	17: 78,680,117 (GRCm39)	S953P	possibly damaging	Het
Dennd2a	T	C	6: 39,462,555 (GRCm39)	K652E	probably damaging	Het
Dnajb3	T	A	1: 88,132,998 (GRCm39)	R135*	probably null	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fam135b	T	A	15: 71,404,812 (GRCm39)	N78I	probably damaging	Het
Flot2	G	A	11: 77,945,632 (GRCm39)		probably benign	Het
Gm10277	T	A	11: 77,677,826 (GRCm39)		probably benign	Het
Itpr1	T	C	6: 108,470,666 (GRCm39)	V2198A	possibly damaging	Het
Kndc1	T	A	7: 139,503,976 (GRCm39)	F1093L	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Kpna4	T	C	3: 68,986,821 (GRCm39)	T523A	probably benign	Het
Krt39	T	C	11: 99,409,931 (GRCm39)	D202G	possibly damaging	Het
Loxhd1	C	T	18: 77,472,765 (GRCm39)	T985M	probably damaging	Het
Mdc1	T	C	17: 36,159,407 (GRCm39)	S596P	probably benign	Het
Misp	A	G	10: 79,663,823 (GRCm39)	Q599R	probably benign	Het
Mogs	C	A	6: 83,092,720 (GRCm39)	F53L	probably benign	Het
Mthfr	A	T	4: 148,128,099 (GRCm39)	N167Y	probably damaging	Het
Nod1	C	T	6: 54,926,461 (GRCm39)	E53K	probably damaging	Het
Or1j11	A	T	2: 36,312,177 (GRCm39)	I256F	probably damaging	Het
Or52l1	A	G	7: 104,830,376 (GRCm39)	I48T	possibly damaging	Het
Or5m5	T	A	2: 85,814,610 (GRCm39)	M142K	probably damaging	Het
Or6c5c	C	T	10: 129,299,225 (GRCm39)	P227S	probably damaging	Het
Or6z5	T	C	7: 6,477,763 (GRCm39)	V218A	probably benign	Het
Pkd1l2	A	G	8: 117,726,717 (GRCm39)	I2263T	possibly damaging	Het
Rbbp8	T	C	18: 11,865,262 (GRCm39)	M717T	probably benign	Het
Rest	A	G	5: 77,416,482 (GRCm39)	H232R	probably damaging	Het
Rps6ka1	A	G	4: 133,587,362 (GRCm39)		probably null	Het
Rtf1	T	A	2: 119,557,377 (GRCm39)	F465I	probably benign	Het
Skil	T	C	3: 31,167,729 (GRCm39)	S454P	probably benign	Het
Snx13	T	C	12: 35,155,285 (GRCm39)	Y450H	probably damaging	Het
Spef2	T	A	15: 9,647,414 (GRCm39)	E971V	possibly damaging	Het
Sqle	T	A	15: 59,187,695 (GRCm39)	M1K	probably null	Het
Srcap	C	G	7: 127,141,101 (GRCm39)	P1566R	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tmc3	T	C	7: 83,256,970 (GRCm39)	Y408H	probably damaging	Het
Uba2	A	T	7: 33,855,642 (GRCm39)		probably benign	Het
Unc13c	G	T	9: 73,839,524 (GRCm39)	N442K	probably benign	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Vwa7	C	T	17: 35,238,086 (GRCm39)	T229I	probably damaging	Het
Washc4	A	G	10: 83,409,657 (GRCm39)	D602G	probably damaging	Het
Zcchc9	C	A	13: 91,953,955 (GRCm39)		probably benign	Het

Other mutations in Elfn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Elfn2	APN	15	78,556,618 (GRCm39)	missense	possibly damaging	0.88
IGL02165:Elfn2	APN	15	78,557,618 (GRCm39)	missense	probably benign	0.04
IGL02951:Elfn2	APN	15	78,556,082 (GRCm39)	missense	probably damaging	1.00
IGL03402:Elfn2	APN	15	78,557,670 (GRCm39)	missense	possibly damaging	0.50
R0083:Elfn2	UTSW	15	78,557,614 (GRCm39)	missense	probably damaging	1.00
R0441:Elfn2	UTSW	15	78,557,795 (GRCm39)	missense	probably benign	0.09
R0570:Elfn2	UTSW	15	78,557,434 (GRCm39)	missense	probably damaging	1.00
R1155:Elfn2	UTSW	15	78,557,344 (GRCm39)	missense	probably benign	0.03
R1670:Elfn2	UTSW	15	78,556,568 (GRCm39)	missense	probably benign	0.05
R2033:Elfn2	UTSW	15	78,556,096 (GRCm39)	missense	probably damaging	1.00
R2138:Elfn2	UTSW	15	78,558,238 (GRCm39)	missense	probably benign	0.05
R2167:Elfn2	UTSW	15	78,556,646 (GRCm39)	missense	probably benign	0.09
R2226:Elfn2	UTSW	15	78,558,443 (GRCm39)	missense	probably damaging	1.00
R2497:Elfn2	UTSW	15	78,558,464 (GRCm39)	missense	probably damaging	1.00
R5175:Elfn2	UTSW	15	78,558,073 (GRCm39)	missense	probably damaging	1.00
R5215:Elfn2	UTSW	15	78,558,401 (GRCm39)	missense	probably damaging	1.00
R5588:Elfn2	UTSW	15	78,558,076 (GRCm39)	missense	probably damaging	1.00
R7291:Elfn2	UTSW	15	78,557,183 (GRCm39)	missense	probably benign	0.21
R7760:Elfn2	UTSW	15	78,558,041 (GRCm39)	missense	probably benign	0.00
R7893:Elfn2	UTSW	15	78,557,368 (GRCm39)	missense	probably damaging	1.00
R8018:Elfn2	UTSW	15	78,557,968 (GRCm39)	missense	probably damaging	1.00
R8084:Elfn2	UTSW	15	78,556,660 (GRCm39)	missense	probably damaging	0.98
R8112:Elfn2	UTSW	15	78,557,635 (GRCm39)	missense	probably damaging	0.97
R8501:Elfn2	UTSW	15	78,558,500 (GRCm39)	missense	probably benign
R8717:Elfn2	UTSW	15	78,556,561 (GRCm39)	missense	probably benign	0.01
R9001:Elfn2	UTSW	15	78,557,438 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- TGCACTATGGAACCGGCATC -3'
(R):5'- AAGATGTATGTTCTGGTCCAGTAC -3'

Sequencing Primer
(F):5'- TCCACGTCAGCGCCATAG -3'
(R):5'- GTTCTGGTCCAGTACAACAATAGC -3'

Posted On

2021-08-31