Mutagenetix > Incidental Mutations

Incidental Mutation 'R6939:Frem3'

540441

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R6939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80615145 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1356 (K1356E)

Ref Sequence

ENSEMBL: ENSMUSP00000038015 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039695
AA Change: K1356E

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: K1356E

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: 99.3%
20x: 97.9%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	A	13: 59,742,058	K231N	possibly damaging	Het
2810403A07Rik	T	A	3: 88,686,517	M71K	probably damaging	Het
A1bg	G	A	15: 60,920,395	P128L	probably damaging	Het
Acsm3	T	C	7: 119,778,455	V401A	probably damaging	Het
Arhgef11	C	A	3: 87,686,920	N93K	probably damaging	Het
C1ra	G	A	6: 124,512,801		probably null	Het
Camk2a	A	G	18: 60,958,154	E236G	probably damaging	Het
Casc1	A	G	6: 145,175,219	F625L	possibly damaging	Het
Cav2	C	A	6: 17,281,411	D17E	possibly damaging	Het
Ccdc149	T	C	5: 52,376,265	S520G	probably benign	Het
Chd4	C	A	6: 125,106,538	H674Q	probably damaging	Het
Clrn2	A	T	5: 45,453,754		probably benign	Het
Cntnap1	A	C	11: 101,186,511	I1000L	probably damaging	Het
Cyp2c67	T	C	19: 39,643,334	T140A	possibly damaging	Het
D7Ertd443e	T	C	7: 134,364,479		probably null	Het
Dcdc2c	G	T	12: 28,541,497	Q131K	probably benign	Het
Dmpk	T	A	7: 19,088,224	V369E	probably damaging	Het
Dnah11	A	T	12: 118,106,562	W1503R	probably damaging	Het
Dok2	T	C	14: 70,775,605	V71A	probably benign	Het
Dqx1	A	T	6: 83,059,465	Q150L	probably damaging	Het
Extl3	A	G	14: 65,066,740	I740T	possibly damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fat2	C	T	11: 55,252,474	W4183*	probably null	Het
Fkrp	C	T	7: 16,811,826	R37Q	probably benign	Het
Fus	A	T	7: 127,972,569		probably benign	Het
Gabarapl2	C	A	8: 111,942,569	S53*	probably null	Het
Gjc1	A	C	11: 102,800,907	M90R	probably damaging	Het
Gm30083	C	T	14: 34,003,600		probably null	Het
Gm7356	T	A	17: 14,001,125	Y214F	probably benign	Het
Hexdc	A	T	11: 121,222,338	D533V	probably benign	Het
Ift172	G	A	5: 31,257,586	A1364V	probably damaging	Het
Ighmbp2	A	T	19: 3,276,907	F186Y	probably damaging	Het
Inpp5e	C	A	2: 26,407,762		probably null	Het
Iqcb1	A	G	16: 36,839,912	T146A	possibly damaging	Het
Kcnmb2	A	G	3: 32,198,316	Y222C	probably damaging	Het
Kdm6b	A	G	11: 69,406,762	W284R	probably damaging	Het
Ksr2	T	A	5: 117,765,561	*952R	probably null	Het
Ldlrap1	C	A	4: 134,767,974		probably benign	Het
Mpdu1	G	A	11: 69,658,055		probably benign	Het
Mrgprh	A	T	17: 12,876,935	T21S	probably benign	Het
Muc16	T	A	9: 18,638,537	T5487S	probably benign	Het
Mydgf	A	G	17: 56,183,737		probably null	Het
Napa	T	C	7: 16,115,257	C241R	possibly damaging	Het
Olfr181	A	T	16: 58,926,285	Y95*	probably null	Het
Olfr479	C	A	7: 108,055,105	A41E	possibly damaging	Het
Olfr964-ps1	T	C	9: 39,686,891	T18A	possibly damaging	Het
Pla2g4f	A	T	2: 120,307,301	L326Q	probably damaging	Het
Pramef25	T	C	4: 143,948,796	T487A	probably benign	Het
Psme4	T	A	11: 30,837,291	Y1029N	probably damaging	Het
Ptprj	T	C	2: 90,459,514	T707A	possibly damaging	Het
Raet1e	T	A	10: 22,174,357	M13K	possibly damaging	Het
Rftn2	T	C	1: 55,194,349		probably null	Het
Rmi1	A	G	13: 58,409,355	I473V	probably benign	Het
Rps6ka4	A	G	19: 6,838,069	F186L	probably damaging	Het
Ryr1	T	A	7: 29,052,326	M3672L	possibly damaging	Het
Smarca5	A	T	8: 80,705,320	C890S	possibly damaging	Het
Tdrd12	C	T	7: 35,485,599		probably null	Het
Tecta	T	C	9: 42,347,997	N1530S	probably damaging	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Tmem94	A	G	11: 115,785,830	S54G	possibly damaging	Het
Tnk2	T	C	16: 32,663,878	V41A	probably damaging	Het
Trpm1	A	G	7: 64,268,297	T462A	probably benign	Het
Tsg101	T	C	7: 46,907,099	T61A	probably benign	Het
Usp42	T	C	5: 143,727,969	N17D	probably damaging	Het
Zfp607a	T	A	7: 27,879,048	C514*	probably null	Het
Zfp866	G	T	8: 69,766,221	Q250K	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	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
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
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
R7858:Frem3	UTSW	8	80611721	nonsense	probably null
R7941:Frem3	UTSW	8	80611721	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- GACCATCAATGACGGACTGG -3'
(R):5'- TGAGGGTCATTCTGTTACCTTC -3'

Sequencing Primer
(F):5'- CTGGAAATAGAAACTGGACACTCTG -3'
(R):5'- TGCTGACTATCTCAGGGACG -3'

Posted On

2018-11-06