Mutagenetix > Incidental Mutation

Incidental Mutation 'R4621:Frem3'

346154

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

041886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R4621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 80669191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038015 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000039695

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353

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

Predicted Effect

probably null
Transcript: ENSMUST00000039695

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (90/90)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	G	A	1: 43,737,252		probably null	Het
Abhd2	T	C	7: 79,325,487	Y142H	probably damaging	Het
Abra	C	T	15: 41,869,224	D149N	probably benign	Het
Acin1	A	T	14: 54,653,443		probably benign	Het
Adap2	T	A	11: 80,174,073		probably null	Het
Afdn	A	G	17: 13,888,820	E1535G	probably damaging	Het
Ak9	A	G	10: 41,406,891	N1218D	possibly damaging	Het
Angptl1	G	A	1: 156,844,924	V107M	probably damaging	Het
Arhgap26	G	A	18: 38,899,841		probably benign	Het
Cage1	A	C	13: 38,025,501	S61A	possibly damaging	Het
Cdadc1	T	C	14: 59,586,555	T163A	probably benign	Het
Celsr2	A	T	3: 108,395,216	V2568D	possibly damaging	Het
Cep44	G	A	8: 56,542,916	T166M	probably damaging	Het
Cnksr3	T	C	10: 7,126,182	K187E	possibly damaging	Het
Cyp20a1	A	G	1: 60,376,099	T295A	probably benign	Het
Dus2	T	A	8: 106,030,442	M88K	probably damaging	Het
E330034G19Rik	A	T	14: 24,296,002		probably benign	Het
Efna5	T	C	17: 62,651,045	D72G	probably benign	Het
Epb41l2	T	C	10: 25,502,140		probably null	Het
Espn	A	G	4: 152,131,252	S408P	probably damaging	Het
Evi5l	T	C	8: 4,202,909		probably benign	Het
F830016B08Rik	G	A	18: 60,300,867	V341I	probably benign	Het
Flii	A	G	11: 60,716,111	L1013P	possibly damaging	Het
Fndc10	G	A	4: 155,694,807	V103M	probably damaging	Het
Gltp	C	T	5: 114,674,127	R106Q	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm996	G	A	2: 25,578,400	P500S	probably damaging	Het
Gtf3c3	A	G	1: 54,419,416	Y449H	probably damaging	Het
Hils1	G	A	11: 94,968,160	V94M	probably damaging	Het
Hmga1b	T	C	11: 120,763,040	V51A	probably damaging	Het
Hsph1	A	G	5: 149,618,843	V705A	probably benign	Het
Igkv13-84	T	C	6: 68,939,799	S27P	possibly damaging	Het
Il15ra	A	G	2: 11,718,329	N55D	possibly damaging	Het
Kctd19	T	G	8: 105,396,471	N104H	probably damaging	Het
Kif27	T	G	13: 58,331,013	D572A	probably benign	Het
Larp1b	G	A	3: 40,963,989	G22R	possibly damaging	Het
Lcn2	A	T	2: 32,384,643		probably benign	Het
Lmtk2	T	A	5: 144,174,934	I824N	probably benign	Het
Ltbp2	A	G	12: 84,809,348	I707T	probably damaging	Het
Macf1	A	G	4: 123,372,348		probably null	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mcoln1	A	G	8: 3,505,923	I73V	probably damaging	Het
Mycbp2	G	T	14: 103,219,979	T1627K	probably benign	Het
Myh8	A	G	11: 67,286,258	E412G	probably damaging	Het
Myo9a	T	A	9: 59,871,072	D1370E	probably benign	Het
Ndufaf5	A	G	2: 140,183,925	T135A	probably benign	Het
Neb	G	A	2: 52,271,039	Q2207*	probably null	Het
Nek3	T	C	8: 22,157,039	Y160C	probably damaging	Het
Olfr1371	G	C	11: 52,213,879	L37V	probably benign	Het
Olfr175-ps1	A	T	16: 58,824,106	I201N	possibly damaging	Het
Osbpl8	A	G	10: 111,269,418	I245V	probably benign	Het
Pcdh9	T	C	14: 93,887,643	I241V	probably benign	Het
Pcdhb12	A	G	18: 37,437,160	Q453R	probably benign	Het
Pcdhb2	A	G	18: 37,295,927	T318A	probably benign	Het
Prlr	T	A	15: 10,319,376		probably benign	Het
Ptprz1	C	T	6: 23,001,454	A1181V	possibly damaging	Het
Racgap1	C	A	15: 99,626,206	S440I	probably benign	Het
Rap1gap2	A	G	11: 74,435,699		probably null	Het
Rbm5	A	G	9: 107,754,146	V244A	probably damaging	Het
Rexo5	T	G	7: 119,819,499	I254R	probably benign	Het
Robo2	A	T	16: 73,985,933	S316T	probably benign	Het
Satb2	A	T	1: 56,845,619	V382E	probably damaging	Het
Scg2	C	T	1: 79,436,664	R114Q	probably benign	Het
Scube2	T	C	7: 109,800,650	D893G	possibly damaging	Het
Snrpn	T	C	7: 59,987,526	D14G	possibly damaging	Het
Spag17	A	G	3: 100,103,243	T2018A	probably benign	Het
Spata9	T	G	13: 75,967,882	F17V	possibly damaging	Het
Supt6	A	G	11: 78,212,746	Y1378H	possibly damaging	Het
Thsd7b	T	C	1: 129,430,915	S29P	possibly damaging	Het
Tmem59	A	T	4: 107,190,718		probably benign	Het
Tmem87a	A	G	2: 120,397,424	S81P	probably benign	Het
Togaram1	A	T	12: 64,982,450	E882D	possibly damaging	Het
Trbj2-4	T	A	6: 41,543,374		probably benign	Het
Trim42	T	A	9: 97,363,148	Y533F	probably benign	Het
Tssk5	C	T	15: 76,372,468	R280Q	probably benign	Het
Vmn1r82	A	G	7: 12,305,336	T179A	possibly damaging	Het
Yipf7	T	A	5: 69,519,361	Q145L	possibly 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
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
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'- TGCCACACACGATTTAATAAGGG -3'
(R):5'- CCCCATTCTAATAGGCCCATTG -3'

Sequencing Primer
(F):5'- GGGATCCCCTAAACTCAAATCTCCTG -3'
(R):5'- GCCAGGTGCACTCTCCCTAAC -3'

Posted On

2015-09-25