Mutagenetix > Incidental Mutations

Incidental Mutation 'R1886:Frem3'

209548

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

039907-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R1886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80613885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 936 (I936V)

Ref Sequence

ENSEMBL: ENSMUSP00000038015 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039695
AA Change: I936V

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

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: I936V

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: 97.2%
3x: 96.2%
10x: 93.1%
20x: 85.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	G	5: 98,801,831	N208S	probably benign	Het
1700102P08Rik	T	A	9: 108,393,610	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,411,401	T278A	probably benign	Het
Acacb	T	A	5: 114,218,959	L1317Q	probably damaging	Het
Acsf3	T	C	8: 122,784,002	V293A	probably damaging	Het
Adora3	A	C	3: 105,904,836	N13H	possibly damaging	Het
Aen	A	T	7: 78,907,325	D307V	probably damaging	Het
Ahnak	G	A	19: 9,015,979	D4876N	probably damaging	Het
Ap2b1	T	A	11: 83,390,735	N822K	probably damaging	Het
Arhgdia	T	C	11: 120,579,418	D143G	probably benign	Het
AU022751	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 6,082,591		probably benign	Het
Bcl9	G	T	3: 97,215,397	R29S	probably benign	Het
Bhmt2	T	A	13: 93,662,490	K274N	probably benign	Het
Brip1	C	A	11: 86,138,815	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,358,944	E434G	probably damaging	Het
Ccdc81	T	C	7: 89,866,611	E620G	possibly damaging	Het
Cit	A	G	5: 115,933,486	Y584C	probably damaging	Het
Crebl2	T	C	6: 134,851,096	M77T	probably benign	Het
Dach2	G	A	X: 113,298,608	G61D	probably benign	Het
Ddx4	A	T	13: 112,622,665	D237E	probably damaging	Het
Dgcr8	A	G	16: 18,278,354	I490T	possibly damaging	Het
Dmxl1	G	A	18: 49,859,135	R316H	probably benign	Het
Dnah17	T	A	11: 118,108,161	I929F	possibly damaging	Het
Eif3f	A	G	7: 108,940,751	T289A	probably benign	Het
Ercc5	A	T	1: 44,175,976	K890*	probably null	Het
Esrp2	A	T	8: 106,133,857	V247E	probably damaging	Het
Evpl	C	T	11: 116,227,576	G735E	probably damaging	Het
Fbxl21	A	G	13: 56,527,093	I60V	probably benign	Het
Fsd1l	T	C	4: 53,696,984		probably null	Het
Gad1-ps	T	C	10: 99,445,582		noncoding transcript	Het
Gbp2b	A	G	3: 142,608,302	T448A	probably benign	Het
Gm11397	C	T	13: 33,404,220	R263C	possibly damaging	Het
Gm281	A	C	14: 13,828,607	Y718D	probably damaging	Het
Gm7102	A	G	19: 61,175,698	F100L	probably damaging	Het
Gmppa	T	C	1: 75,442,508	V353A	probably damaging	Het
Hmcn1	T	C	1: 150,577,295	E5423G	probably benign	Het
Hmgxb3	A	G	18: 61,137,401		probably null	Het
Krt12	T	C	11: 99,418,576	D286G	probably damaging	Het
Krt75	A	T	15: 101,571,097	M266K	probably damaging	Het
Ksr1	C	A	11: 79,020,378	V11F	probably null	Het
Lag3	T	C	6: 124,909,439	N184D	probably damaging	Het
Lsm10	C	G	4: 126,097,948	D32E	probably benign	Het
Mettl5	A	G	2: 69,880,805	V123A	probably damaging	Het
Mfrp	A	G	9: 44,103,488	D274G	possibly damaging	Het
Mgat3	A	G	15: 80,211,619	I216V	probably benign	Het
Mkrn3	G	A	7: 62,418,738	A435V	probably benign	Het
Mob3a	G	A	10: 80,691,234	Q86*	probably null	Het
Mttp	A	T	3: 138,092,615	V840D	probably damaging	Het
Nadk2	A	C	15: 9,103,358	N308H	possibly damaging	Het
Ncoa7	T	C	10: 30,648,452	N823S	possibly damaging	Het
Nlk	T	A	11: 78,586,928	I330F	probably damaging	Het
Ofcc1	T	C	13: 40,206,624	S310G	possibly damaging	Het
Olfr480	T	C	7: 108,066,778	N7D	probably benign	Het
Olfr498	A	T	7: 108,465,740	M139L	probably benign	Het
Orc2	T	C	1: 58,471,088		probably null	Het
Orc3	A	G	4: 34,584,829	Y459H	probably damaging	Het
Pah	T	A	10: 87,528,328	N30K	possibly damaging	Het
Pcsk4	T	C	10: 80,328,960	K74E	probably benign	Het
Pdlim7	C	T	13: 55,506,168	G212D	probably benign	Het
Pfkm	A	G	15: 98,127,746	N547S	probably damaging	Het
Por	A	G	5: 135,734,274	E546G	probably damaging	Het
Ppp1r13l	T	C	7: 19,377,571	S774P	probably damaging	Het
Prdm1	T	A	10: 44,439,758	D794V	probably damaging	Het
Prdx5	A	G	19: 6,908,190	I32T	probably benign	Het
Prlhr	G	T	19: 60,467,494	C211*	probably null	Het
Ripk3	C	T	14: 55,788,237		probably null	Het
Rmnd5b	G	A	11: 51,627,638	A137V	probably damaging	Het
Rwdd2b	A	T	16: 87,437,125	F72I	probably benign	Het
Scml4	A	G	10: 42,912,227	Y51C	probably damaging	Het
Sept1	A	G	7: 127,214,765		probably benign	Het
Slc30a10	T	A	1: 185,462,864	I291N	probably damaging	Het
Slc7a9	T	G	7: 35,453,402	C20W	possibly damaging	Het
Slc7a9	G	C	7: 35,453,403	A21P	probably damaging	Het
Slco1b2	A	T	6: 141,683,225	Y551F	probably damaging	Het
Sra1	T	C	18: 36,668,777	M87V	probably benign	Het
Syvn1	T	C	19: 6,049,227	S169P	possibly damaging	Het
Tmc7	A	T	7: 118,561,087	F176I	possibly damaging	Het
Tmem62	A	T	2: 120,986,670	I236F	probably damaging	Het
Trip4	T	A	9: 65,874,881	I190F	probably null	Het
Trpa1	T	C	1: 14,889,425	D679G	probably benign	Het
Tsta3	G	T	15: 75,926,989	T123N	possibly damaging	Het
Ttc22	T	A	4: 106,636,866		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tyrp1	T	A	4: 80,840,806		probably null	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Usp36	A	T	11: 118,272,958	Y255N	probably damaging	Het
Zfp944	A	T	17: 22,339,979	Y96N	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
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
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
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
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'- CAGGAGAATCATTTATGCTAGCTGATG -3'
(R):5'- TGTGAACATAGCTGACTGCCC -3'

Sequencing Primer
(F):5'- CTGATGTTATCAATGGGAGCATCTC -3'
(R):5'- ACTTGCTCTGCAGGCCAAC -3'

Posted On

2014-06-30