Mutagenetix > Incidental Mutations

Incidental Mutation 'R5743:Frem3'

445672

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

043353-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R5743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80615778 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1567 (T1567S)

Ref Sequence

ENSEMBL: ENSMUSP00000038015 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039695
AA Change: T1567S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: T1567S

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	A	G	7: 118,797,011	T538A	possibly damaging	Het
Acss2	A	G	2: 155,574,616		probably benign	Het
Ankef1	A	G	2: 136,549,709		probably null	Het
Arhgap20	T	A	9: 51,816,727	M80K	probably benign	Het
Arhgap29	T	G	3: 121,981,911	L37R	probably damaging	Het
Baiap3	G	A	17: 25,244,785	P906S	probably benign	Het
Caskin2	T	A	11: 115,802,289	N603I	possibly damaging	Het
Ccdc159	A	T	9: 21,929,390	E84D	probably benign	Het
Ccl1	T	G	11: 82,176,886	S73R	possibly damaging	Het
Cdh7	G	T	1: 110,108,845	C585F	probably damaging	Het
Cga	T	C	4: 34,904,108		probably null	Het
Coq5	A	C	5: 115,279,882	E57A	probably benign	Het
Cstf1	T	A	2: 172,377,833	L288Q	probably damaging	Het
Ctsll3	G	T	13: 60,801,001	Q47K	probably benign	Het
Dchs1	T	A	7: 105,771,596	Q539L	probably benign	Het
Fam205c	G	A	4: 42,873,087	T68I	probably damaging	Het
Fbxo46	C	A	7: 19,136,495	D346E	probably damaging	Het
Glce	T	A	9: 62,070,540	T21S	probably damaging	Het
Gm16432	G	T	1: 178,122,762		silent	Het
Gm19402	C	T	10: 77,690,682	D26N	probably damaging	Het
Gm20830	A	G	Y: 6,916,664	Y152H	probably damaging	Het
Herc3	T	C	6: 58,918,799	Y1011H	probably benign	Het
Igkv6-29	C	A	6: 70,138,600	G70V	possibly damaging	Het
Il31ra	G	T	13: 112,527,487	T552K	possibly damaging	Het
Itga2	A	G	13: 114,884,506	V86A	probably damaging	Het
Kcnk4	A	T	19: 6,928,355	N81K	possibly damaging	Het
Lrp2	C	A	2: 69,466,877	D3247Y	probably damaging	Het
Maml3	G	T	3: 52,104,132	F4L	unknown	Het
Mcpt1	A	T	14: 56,018,615	H37L	probably benign	Het
Mpdz	T	C	4: 81,421,188	M1V	probably null	Het
Myom2	A	T	8: 15,080,914	K283N	possibly damaging	Het
Nrxn1	C	A	17: 90,643,224	R509L	probably damaging	Het
Ntng1	T	A	3: 110,135,420	Y30F	probably damaging	Het
Olfr1098	C	A	2: 86,923,205	G109V	probably benign	Het
Olfr676	A	G	7: 105,036,156		probably null	Het
Olfr891	C	A	9: 38,180,718	C35F	probably benign	Het
Orc6	A	T	8: 85,302,956	Q43L	probably benign	Het
Otogl	G	A	10: 107,857,001	S874L	possibly damaging	Het
Pcdh9	T	C	14: 93,886,724	D670G	probably damaging	Het
Pcdhga9	A	T	18: 37,738,806	I563F	probably damaging	Het
Plxna1	A	T	6: 89,356,529	S373T	probably damaging	Het
Prop1	T	C	11: 50,951,009	D190G	probably damaging	Het
Qrich1	T	A	9: 108,534,115	Y280N	probably damaging	Het
Rasl10a	T	A	11: 5,059,519	D102E	probably benign	Het
Rgs1	T	C	1: 144,245,372	Y187C	probably damaging	Het
Sema5b	T	A	16: 35,658,476	W557R	probably damaging	Het
Sh2b3	A	T	5: 121,828,457	L198H	probably damaging	Het
Slc27a3	G	T	3: 90,387,072	T429K	probably benign	Het
Slc35f1	T	G	10: 53,089,450	D320E	probably benign	Het
Smug1	C	A	15: 103,157,616		probably null	Het
Ssrp1	T	A	2: 85,041,168	Y311*	probably null	Het
Svep1	T	C	4: 58,096,223	T1466A	possibly damaging	Het
Tmem130	A	G	5: 144,750,939	S196P	probably damaging	Het
Trim30d	A	T	7: 104,472,328	C176*	probably null	Het
Ush2a	A	G	1: 188,436,962	H1100R	probably benign	Het
Vezt	A	T	10: 93,997,095	F151L	probably benign	Het
Zc3h3	G	T	15: 75,779,531	C638*	probably null	Het
Zfp128	C	T	7: 12,884,727	R51C	probably damaging	Het
Zfp141	T	G	7: 42,476,431	I206L	possibly damaging	Het
Zfp369	G	T	13: 65,295,680	K324N	probably benign	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
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
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
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'- ACTTTGAGCTTAGAGTGACTGG -3'
(R):5'- TGTGTCTCCAGGGAAGTGTC -3'

Sequencing Primer
(F):5'- TGGAGGACACCACTCTGAGTC -3'
(R):5'- TGTCTGGGAAGACATAGAAGCCTG -3'

Posted On

2016-11-21