Mutagenetix > Incidental Mutations

Incidental Mutation 'R5889:Frem3'

456224

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

044090-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80614288 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1070 (V1070A)

Ref Sequence

ENSEMBL: ENSMUSP00000038015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039695]

Predicted Effect

probably damaging
Transcript: ENSMUST00000039695
AA Change: V1070A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: V1070A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Cadherin_3	369	515	9.5e-31	PFAM
Pfam:Cadherin_3	495	596	9.4e-20	PFAM
Pfam:Cadherin_3	637	786	4.2e-20	PFAM
Pfam:Cadherin_3	788	913	5.5e-23	PFAM
Pfam:Cadherin_3	998	1163	1.8e-20	PFAM
Pfam:Cadherin_3	1129	1254	1.3e-19	PFAM
Pfam:Cadherin_3	1250	1395	9.5e-34	PFAM
Pfam:Cadherin_3	1397	1508	2.7e-21	PFAM
Pfam:Cadherin_3	1493	1617	1.2e-27	PFAM
Pfam:Cadherin_3	1622	1748	4.8e-17	PFAM
Calx_beta	1754	1853	1.45e-7	SMART
Calx_beta	1866	1977	3.35e-12	SMART
Calx_beta	1991	2098	1.61e-5	SMART

Meta Mutation Damage Score

0.1932

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,354,449	E297G	probably damaging	Het
Astn1	C	T	1: 158,600,380	P707L	possibly damaging	Het
Cep290	T	C	10: 100,499,074	S319P	possibly damaging	Het
Chrna4	A	C	2: 181,028,658	L435W	probably damaging	Het
Cilp	C	A	9: 65,280,343	A1240D	possibly damaging	Het
Col17a1	A	G	19: 47,649,072	F1249S	possibly damaging	Het
Creb3l3	T	C	10: 81,092,533		probably benign	Het
Cyp4f40	C	A	17: 32,675,757	T432N	probably benign	Het
Dsg1c	T	G	18: 20,283,601	I853R	possibly damaging	Het
Ebna1bp2	T	A	4: 118,621,423	D34E	probably damaging	Het
Edc4	C	T	8: 105,888,022	T112I	possibly damaging	Het
Enpep	T	A	3: 129,312,578	Y333F	probably damaging	Het
Exoc6	A	G	19: 37,582,245	H291R	probably damaging	Het
Fbln5	G	T	12: 101,765,226	N236K	probably damaging	Het
Fndc8	A	T	11: 82,898,729	T238S	probably damaging	Het
Gabra4	A	T	5: 71,571,891	N515K	possibly damaging	Het
Gemin5	A	G	11: 58,122,355	V1422A	possibly damaging	Het
Gm10118	A	G	10: 63,927,111		probably benign	Het
Grm5	A	G	7: 87,603,073	D177G	probably damaging	Het
Gtf2h4	G	A	17: 35,670,900	P147L	possibly damaging	Het
Hgsnat	T	C	8: 25,963,367	D265G	probably damaging	Het
Hsd17b4	T	A	18: 50,177,209	L513Q	probably damaging	Het
Hsd17b7	A	T	1: 169,955,918	M307K	probably benign	Het
Hspa5	T	C	2: 34,774,617	V361A	probably damaging	Het
Iqgap2	A	G	13: 95,632,042	V1450A	probably benign	Het
Itpr3	A	G	17: 27,115,065	E2037G	probably damaging	Het
Lama5	T	C	2: 180,193,674		probably benign	Het
Manba	G	T	3: 135,524,598	G311*	probably null	Het
Mettl24	T	A	10: 40,746,490	V236E	probably benign	Het
Myh3	A	G	11: 67,086,375	D310G	probably damaging	Het
Ncoa4	A	T	14: 32,166,659		probably benign	Het
Nop56	G	T	2: 130,275,982	R126L	probably damaging	Het
Nos3	C	A	5: 24,368,777		probably benign	Het
Olfr156	T	C	4: 43,820,492	M290V	possibly damaging	Het
Pcdhga3	T	A	18: 37,676,609	V705D	probably damaging	Het
Prom2	C	T	2: 127,529,411	A776T	possibly damaging	Het
Prss48	A	G	3: 85,998,185	I127T	probably damaging	Het
Rtca	T	C	3: 116,499,583	Y193C	possibly damaging	Het
Samd9l	T	C	6: 3,376,460	Y267C	probably damaging	Het
Scube3	A	G	17: 28,160,913	R272G	possibly damaging	Het
Sprr1a	G	T	3: 92,484,644	H17N	probably benign	Het
Ssfa2	T	A	2: 79,657,728	D718E	probably damaging	Het
Stard3	G	C	11: 98,375,535	Q120H	probably benign	Het
Supt6	A	G	11: 78,212,748	I1377T	probably damaging	Het
Svop	A	T	5: 114,065,631	S30T	probably benign	Het
Syne2	T	A	12: 76,072,252	L5882*	probably null	Het
Tanc2	G	T	11: 105,921,807	R1359L	probably benign	Het
Tmc7	A	C	7: 118,566,326	L55R	probably benign	Het
Trappc11	G	A	8: 47,519,578	A320V	probably benign	Het
Ttll8	G	C	15: 88,933,939	P178A	probably damaging	Het
Ttn	T	C	2: 76,730,649	E20809G	probably damaging	Het
Tubb2a	A	T	13: 34,075,468	V113E	possibly damaging	Het
Ube2d1	A	T	10: 71,259,869		probably benign	Het
Usp48	T	C	4: 137,616,412	V452A	probably benign	Het
Vldlr	T	A	19: 27,239,664	I39N	probably damaging	Het
Wbp1l	C	T	19: 46,654,180	R191*	probably null	Het
Zyg11b	C	T	4: 108,237,380	W669*	probably null	Het

Other mutations in Frem3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Frem3	APN	8	80668810	missense	possibly damaging	0.75
IGL01019:Frem3	APN	8	80615134	missense	probably benign	0.02
IGL01470:Frem3	APN	8	80614315	missense	probably damaging	1.00
IGL01609:Frem3	APN	8	80612704	missense	probably benign	0.00
IGL01622:Frem3	APN	8	80613915	missense	probably benign	0.01
IGL01623:Frem3	APN	8	80613915	missense	probably benign	0.01
IGL01751:Frem3	APN	8	80615743	missense	probably benign	0.33
IGL02037:Frem3	APN	8	80611489	missense	probably benign	0.31
IGL02039:Frem3	APN	8	80612971	missense	probably damaging	1.00
IGL02084:Frem3	APN	8	80612443	missense	possibly damaging	0.95
IGL02124:Frem3	APN	8	80613094	missense	probably damaging	0.99
IGL02140:Frem3	APN	8	80614107	missense	possibly damaging	0.84
IGL02836:Frem3	APN	8	80614381	missense	probably benign
IGL03090:Frem3	APN	8	80618229	missense	probably benign	0.01
IGL03102:Frem3	APN	8	80613032	missense	possibly damaging	0.92
IGL03116:Frem3	APN	8	80612806	missense	possibly damaging	0.84
IGL03165:Frem3	APN	8	80612529	missense	probably benign	0.26
IGL03224:Frem3	APN	8	80613463	missense	probably damaging	1.00
IGL03401:Frem3	APN	8	80614541	missense	probably damaging	1.00
IGL03403:Frem3	APN	8	80611090	missense	probably benign	0.04
FR4340:Frem3	UTSW	8	80615241	small insertion	probably benign
FR4976:Frem3	UTSW	8	80615241	small insertion	probably benign
IGL02991:Frem3	UTSW	8	80668882	missense	probably damaging	1.00
IGL03052:Frem3	UTSW	8	80614530	missense	probably damaging	1.00
R0089:Frem3	UTSW	8	80615878	missense	possibly damaging	0.94
R0647:Frem3	UTSW	8	80615185	missense	probably damaging	1.00
R0690:Frem3	UTSW	8	80613952	missense	possibly damaging	0.84
R0766:Frem3	UTSW	8	80615322	missense	probably benign
R0834:Frem3	UTSW	8	80687008	missense	probably damaging	1.00
R0909:Frem3	UTSW	8	80663406	missense	probably benign	0.45
R1033:Frem3	UTSW	8	80695157	missense	probably benign	0.00
R1144:Frem3	UTSW	8	80611884	missense	probably benign	0.01
R1312:Frem3	UTSW	8	80615322	missense	probably benign
R1330:Frem3	UTSW	8	80668839	missense	probably damaging	0.99
R1355:Frem3	UTSW	8	80690702	missense	probably damaging	1.00
R1390:Frem3	UTSW	8	80690773	missense	probably damaging	0.99
R1413:Frem3	UTSW	8	80668801	missense	probably benign
R1470:Frem3	UTSW	8	80611191	missense	probably benign	0.05
R1470:Frem3	UTSW	8	80611191	missense	probably benign	0.05
R1503:Frem3	UTSW	8	80687018	missense	probably damaging	0.99
R1538:Frem3	UTSW	8	80612710	missense	probably damaging	1.00
R1538:Frem3	UTSW	8	80613135	missense	probably benign	0.00
R1612:Frem3	UTSW	8	80614861	missense	probably damaging	1.00
R1793:Frem3	UTSW	8	80613112	missense	probably benign	0.03
R1872:Frem3	UTSW	8	80612576	missense	probably damaging	1.00
R1879:Frem3	UTSW	8	80611938	nonsense	probably null
R1886:Frem3	UTSW	8	80613885	missense	probably benign	0.00
R1933:Frem3	UTSW	8	80612890	missense	probably benign	0.00
R2027:Frem3	UTSW	8	80695337	missense	possibly damaging	0.75
R2040:Frem3	UTSW	8	80615826	missense	possibly damaging	0.92
R2050:Frem3	UTSW	8	80614891	missense	probably damaging	1.00
R2079:Frem3	UTSW	8	80615103	missense	probably benign	0.03
R2099:Frem3	UTSW	8	80615859	missense	probably benign	0.06
R2120:Frem3	UTSW	8	80615457	missense	probably benign	0.20
R2842:Frem3	UTSW	8	80669349	intron	probably null
R2845:Frem3	UTSW	8	80613220	missense	probably damaging	1.00
R3015:Frem3	UTSW	8	80690773	missense	probably damaging	0.99
R3442:Frem3	UTSW	8	80613040	missense	probably damaging	1.00
R3724:Frem3	UTSW	8	80615271	missense	probably benign	0.06
R3730:Frem3	UTSW	8	80615916	missense	probably damaging	0.99
R3939:Frem3	UTSW	8	80615020	missense	possibly damaging	0.84
R3940:Frem3	UTSW	8	80615020	missense	possibly damaging	0.84
R3941:Frem3	UTSW	8	80615020	missense	possibly damaging	0.84
R4089:Frem3	UTSW	8	80615173	missense	probably damaging	1.00
R4282:Frem3	UTSW	8	80614141	missense	probably benign	0.00
R4437:Frem3	UTSW	8	80612607	missense	probably benign	0.30
R4480:Frem3	UTSW	8	80611357	missense	probably benign	0.10
R4575:Frem3	UTSW	8	80616075	missense	probably benign	0.17
R4583:Frem3	UTSW	8	80613514	missense	probably benign	0.03
R4620:Frem3	UTSW	8	80668957	missense	possibly damaging	0.82
R4621:Frem3	UTSW	8	80669191	splice site	probably null
R4644:Frem3	UTSW	8	80613727	missense	probably benign	0.33
R4667:Frem3	UTSW	8	80663420	missense	probably damaging	0.97
R4748:Frem3	UTSW	8	80611459	missense	probably damaging	1.00
R4823:Frem3	UTSW	8	80613958	missense	probably benign	0.25
R4836:Frem3	UTSW	8	80663397	missense	probably damaging	0.99
R4867:Frem3	UTSW	8	80613283	missense	probably damaging	1.00
R4921:Frem3	UTSW	8	80613136	missense	possibly damaging	0.83
R5030:Frem3	UTSW	8	80613247	missense	possibly damaging	0.89
R5035:Frem3	UTSW	8	80615914	missense	probably damaging	0.97
R5172:Frem3	UTSW	8	80612566	missense	probably benign	0.44
R5289:Frem3	UTSW	8	80612319	missense	probably benign	0.00
R5492:Frem3	UTSW	8	80612677	missense	probably damaging	1.00
R5655:Frem3	UTSW	8	80612694	missense	probably benign	0.00
R5685:Frem3	UTSW	8	80695303	missense	probably damaging	1.00
R5723:Frem3	UTSW	8	80613397	missense	probably benign	0.02
R5743:Frem3	UTSW	8	80615778	missense	probably damaging	0.98
R6048:Frem3	UTSW	8	80613433	missense	probably benign	0.03
R6057:Frem3	UTSW	8	80615587	missense	probably damaging	0.99
R6137:Frem3	UTSW	8	80615047	missense	probably benign
R6264:Frem3	UTSW	8	80615203	missense	probably damaging	1.00
R6339:Frem3	UTSW	8	80613015	missense	possibly damaging	0.84
R6418:Frem3	UTSW	8	80611152	missense	probably benign	0.08
R6680:Frem3	UTSW	8	80669320	missense	probably damaging	1.00
R6773:Frem3	UTSW	8	80611815	missense	probably damaging	1.00
R6838:Frem3	UTSW	8	80612031	missense	probably damaging	1.00
R6928:Frem3	UTSW	8	80611282	missense	possibly damaging	0.48
R6939:Frem3	UTSW	8	80615145	missense	probably benign	0.23
R6995:Frem3	UTSW	8	80612579	missense	probably damaging	0.98
R7112:Frem3	UTSW	8	80612031	missense	probably damaging	1.00
R7155:Frem3	UTSW	8	80616039	missense	probably benign	0.01
R7235:Frem3	UTSW	8	80690725	missense	probably benign	0.00
R7282:Frem3	UTSW	8	80612031	missense	probably damaging	1.00
R7403:Frem3	UTSW	8	80616145	missense	probably damaging	1.00
R7422:Frem3	UTSW	8	80615763	missense	probably benign	0.00
R7485:Frem3	UTSW	8	80613336	missense	probably damaging	1.00
R7516:Frem3	UTSW	8	80612083	missense	probably damaging	0.99
X0024:Frem3	UTSW	8	80613081	missense	possibly damaging	0.76
X0027:Frem3	UTSW	8	80612388	nonsense	probably null
Z1088:Frem3	UTSW	8	80615426	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGGCAGTCAGCTATGTTCACAC -3'
(R):5'- TAATTGATGCACCCCACTCG -3'

Sequencing Primer
(F):5'- CAGTCAGCTATGTTCACACTAGTGG -3'
(R):5'- CATCCTTGACGAAGAAGGCACTG -3'

Posted On

2017-02-15