Mutagenetix > Incidental Mutation

Incidental Mutation 'R7282:Frem3'

565736

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R7282 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80612031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 318 (T318S)

Ref Sequence

ENSEMBL: ENSMUSP00000038015 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039695
AA Change: T318S

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

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: T318S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	A	11: 58,425,756	D187E	probably damaging	Het
9530053A07Rik	A	G	7: 28,144,408	N907S	probably benign	Het
A830010M20Rik	G	T	5: 107,507,196	V954L	probably benign	Het
A830010M20Rik	A	G	5: 107,510,505	D1647G	probably damaging	Het
Abl2	T	C	1: 156,630,060	Y299H	probably damaging	Het
Acsl3	T	A	1: 78,681,992	N120K	probably damaging	Het
Aldh1a1	A	G	19: 20,629,070	K255R	possibly damaging	Het
Baz2b	C	T	2: 59,920,437	R1205H	probably benign	Het
Carmil1	A	G	13: 24,013,404	S1350P	probably benign	Het
Cecr2	A	T	6: 120,761,621	N325I		Het
Cep120	C	T	18: 53,740,089	A57T	probably damaging	Het
Chst8	T	C	7: 34,748,203		probably null	Het
Cntn4	A	T	6: 106,525,460	I393F	probably damaging	Het
Crocc	T	C	4: 141,022,341	D1494G	probably damaging	Het
Cwc25	T	C	11: 97,748,006	E364G	possibly damaging	Het
Dnah7a	C	A	1: 53,684,900		probably null	Het
Drg2	A	G	11: 60,454,693	E5G	probably benign	Het
Ehd4	T	C	2: 120,091,248	H509R	probably damaging	Het
Enam	A	T	5: 88,502,327	N565I	probably damaging	Het
Evi2a	G	T	11: 79,527,423	N120K	probably benign	Het
Faim	A	G	9: 98,992,126	T2A	probably benign	Het
Fmnl1	T	C	11: 103,196,265	V836A	unknown	Het
Fosb	T	C	7: 19,305,188	I224V	possibly damaging	Het
Gm13103	A	G	4: 143,851,881	N237S	possibly damaging	Het
Gm9972	G	A	11: 43,036,804	G93R	unknown	Het
Gtf2a1	A	T	12: 91,567,835	I215N	possibly damaging	Het
Hs3st3b1	A	G	11: 63,921,571	V106A	probably benign	Het
Igkv19-93	T	C	6: 68,736,501	D48G	probably benign	Het
Itgb8	A	T	12: 119,237,708	W31R	probably benign	Het
Kmt2d	A	T	15: 98,854,104	W1995R	unknown	Het
Lama3	G	T	18: 12,439,392	Q551H	probably damaging	Het
Lama5	T	C	2: 180,201,795	Y453C	probably damaging	Het
Lbhd2	G	A	12: 111,410,290	R57H	probably damaging	Het
Lcmt2	A	G	2: 121,138,790	V384A	probably damaging	Het
Lgsn	T	G	1: 31,203,371	L178R	probably damaging	Het
Lhcgr	C	T	17: 88,758,383	V193I	probably benign	Het
Lta4h	T	C	10: 93,453,511	M1T	probably null	Het
Ly6l	T	C	15: 75,449,496	S14P	probably damaging	Het
Met	C	A	6: 17,547,012	C881*	probably null	Het
Mettl21e	A	T	1: 44,210,239	Y86N	probably damaging	Het
Mgam	A	T	6: 40,656,512	N251Y	possibly damaging	Het
Mgam	A	G	6: 40,763,111	T1673A	probably benign	Het
Mmp27	T	A	9: 7,578,230	V357D	probably damaging	Het
Muc2	A	G	7: 141,752,744	E740G		Het
Myoc	C	A	1: 162,648,844	S372R	probably benign	Het
Ncor2	A	T	5: 125,020,040	M1358K		Het
Nol6	A	G	4: 41,119,468	S613P	probably benign	Het
Nuggc	T	A	14: 65,617,623	I334N	probably damaging	Het
Nxnl2	C	T	13: 51,171,506	P62S	probably damaging	Het
Ogfod1	C	T	8: 94,037,439	H51Y	possibly damaging	Het
Olfml1	T	A	7: 107,590,323	D198E	possibly damaging	Het
Olfr1395	A	C	11: 49,149,118	N287T	probably damaging	Het
Ovch2	C	T	7: 107,794,370	R183H	possibly damaging	Het
Plxnd1	A	T	6: 115,960,837	L1516Q	probably damaging	Het
Prrc2c	A	G	1: 162,679,974	V2448A	possibly damaging	Het
Rexo5	C	T	7: 119,818,413	T212I	probably damaging	Het
Rgl2	C	T	17: 33,933,429	R367W	probably damaging	Het
Rnf213	T	G	11: 119,437,992	I2030S		Het
Rtf1	C	T	2: 119,675,099	A11V	unknown	Het
Setdb1	T	G	3: 95,338,674	T647P	probably damaging	Het
Shisa6	G	C	11: 66,502,654	P272R	possibly damaging	Het
Slc25a54	G	T	3: 109,116,501	G471*	probably null	Het
Slc30a1	A	G	1: 191,909,432	T397A	probably benign	Het
Slc7a14	A	G	3: 31,227,153	F336S	possibly damaging	Het
Slitrk3	C	T	3: 73,050,465	V325I	possibly damaging	Het
Sptan1	A	G	2: 29,986,929	Y361C	probably damaging	Het
Stard9	A	G	2: 120,698,503	D1747G	probably benign	Het
Taf3	T	C	2: 9,951,442	E638G	probably damaging	Het
Tbc1d8	T	C	1: 39,372,533	D1074G	probably benign	Het
Tecrl	G	A	5: 83,354,907	H32Y	probably benign	Het
Tgm3	T	A	2: 130,024,561	M133K	probably benign	Het
Tmem131	A	G	1: 36,841,604	F195S	probably damaging	Het
Tmem82	T	C	4: 141,614,950	I314V	possibly damaging	Het
Trappc10	T	C	10: 78,207,493	E555G	probably damaging	Het
Ubn2	A	T	6: 38,452,876	K176*	probably null	Het
Ucp1	G	A	8: 83,293,902	G114R	probably benign	Het
Unc5c	A	G	3: 141,677,990	D43G	probably damaging	Het
Vmn2r3	C	T	3: 64,261,404	V571M	possibly damaging	Het
Vwa3a	A	T	7: 120,786,465	I677L	probably benign	Het
Wdr48	T	C	9: 119,911,081	S319P	probably damaging	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	splice site	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
R5889:Frem3	UTSW	8	80614288	missense	probably damaging	1.00
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
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
R7858:Frem3	UTSW	8	80611721	nonsense	probably null
R7976:Frem3	UTSW	8	80611602	nonsense	probably null
R8171:Frem3	UTSW	8	80615240	missense	probably damaging	1.00
R8185:Frem3	UTSW	8	80612304	nonsense	probably null
R8306:Frem3	UTSW	8	80612211	missense	possibly damaging	0.95
R8478:Frem3	UTSW	8	80611558	missense	probably damaging	1.00
R8518:Frem3	UTSW	8	80612595	missense	probably damaging	1.00
R8794:Frem3	UTSW	8	80612278	missense	probably damaging	1.00
R8794:Frem3	UTSW	8	80616222	missense	probably benign	0.02
R8806:Frem3	UTSW	8	80663435	missense	probably benign	0.30
R8833:Frem3	UTSW	8	80612772	missense	probably benign	0.29
R8879:Frem3	UTSW	8	80613148	missense	probably damaging	0.98
R8897:Frem3	UTSW	8	80612790	missense	probably damaging	1.00
R8983:Frem3	UTSW	8	80669246	missense	probably damaging	1.00
R9207:Frem3	UTSW	8	80613442	missense	possibly damaging	0.73
R9277:Frem3	UTSW	8	80690773	missense	probably damaging	0.96
R9536:Frem3	UTSW	8	80615419	missense	probably benign	0.00
R9596:Frem3	UTSW	8	80615322	missense	probably benign
R9649:Frem3	UTSW	8	80614516	missense	probably damaging	1.00
R9671:Frem3	UTSW	8	80612505	missense	probably benign	0.00
R9723:Frem3	UTSW	8	80614723	missense	probably benign
R9790:Frem3	UTSW	8	80613261	missense	probably benign	0.01
R9791:Frem3	UTSW	8	80613261	missense	probably benign	0.01
RF030:Frem3	UTSW	8	80615238	small insertion	probably benign
RF034:Frem3	UTSW	8	80615238	small insertion	probably benign
RF042:Frem3	UTSW	8	80615238	small insertion	probably benign
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
Z1176:Frem3	UTSW	8	80611503	missense	probably damaging	0.99
Z1176:Frem3	UTSW	8	80615431	missense	probably benign	0.03
Z1177:Frem3	UTSW	8	80616129	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ACTATGTGCCCATGCTAGTGG -3'
(R):5'- AAAGACGTGGTCCCCTTCTG -3'

Sequencing Primer
(F):5'- CTAGTGGAGCTGCTTGGACCAG -3'
(R):5'- CGATAGGCTATTTTCAGCTCTCGAAG -3'

Posted On

2019-06-26