Mutagenetix > Incidental Mutation

Incidental Mutation 'R1872:Frem3'

210859

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

039894-MU

Accession Numbers

Essential gene?

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

Stock #

R1872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80612576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 499 (H499Q)

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: H499Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: H499Q

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

0.3704

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (113/117)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,556,844	C133Y	unknown	Het
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Abce1	A	G	8: 79,690,251	M377T	possibly damaging	Het
Adam25	A	T	8: 40,755,226	R510*	probably null	Het
Adamts12	G	T	15: 11,217,880	E308*	probably null	Het
Adgrg3	C	A	8: 95,033,442	N96K	possibly damaging	Het
Afdn	T	C	17: 13,881,316	V1022A	probably damaging	Het
Akap9	T	C	5: 4,001,406	V1391A	probably damaging	Het
Akip1	A	G	7: 109,711,775	Y174C	probably damaging	Het
Ap3b2	T	C	7: 81,464,150	T830A	unknown	Het
Aph1a	A	G	3: 95,895,564	T159A	probably damaging	Het
Ccdc146	T	C	5: 21,301,290	T718A	probably benign	Het
Cdk5r2	T	C	1: 74,855,822	L242P	probably damaging	Het
Cep97	T	A	16: 55,927,866	N67I	probably damaging	Het
Chic2	A	T	5: 75,011,479	W121R	possibly damaging	Het
Clock	A	G	5: 76,248,462	S147P	possibly damaging	Het
Cntnap5a	T	G	1: 116,089,210	S178A	probably benign	Het
Col11a2	C	A	17: 34,062,555		probably benign	Het
Col6a3	T	A	1: 90,830,214	H6L	probably damaging	Het
Cpne5	T	C	17: 29,204,693	N154D	probably benign	Het
Ctsz	T	G	2: 174,427,976	K273Q	probably benign	Het
Cybrd1	G	A	2: 71,129,760	V101M	probably benign	Het
Cyp2c23	T	A	19: 44,005,551	K459*	probably null	Het
Cyp4a31	A	T	4: 115,574,736	H419L	probably damaging	Het
D930020B18Rik	G	A	10: 121,641,974	V35M	probably damaging	Het
Dnah9	C	T	11: 66,037,490	V2118M	probably benign	Het
Doxl2	A	G	6: 48,975,620	I160V	probably benign	Het
Dtna	T	C	18: 23,597,560		probably null	Het
Ednra	C	T	8: 77,720,396	V18I	possibly damaging	Het
Elac1	T	C	18: 73,742,646	R105G	probably benign	Het
Exoc2	A	G	13: 30,822,661	S844P	probably benign	Het
Fam185a	A	T	5: 21,480,330		probably null	Het
Fam204a	A	G	19: 60,199,449	M233T	possibly damaging	Het
Fat1	T	A	8: 45,038,349	Y3816N	probably damaging	Het
Fat1	C	A	8: 44,953,304	H1031N	probably benign	Het
Fbxo38	C	T	18: 62,517,023	R621Q	probably benign	Het
Fhod3	C	A	18: 25,130,610	R1524S	probably damaging	Het
Fnip1	A	T	11: 54,487,735	R192W	probably damaging	Het
Gab2	C	T	7: 97,299,043	T280I	probably damaging	Het
Gdpgp1	A	G	7: 80,238,424	R68G	probably benign	Het
Gm10382	C	T	5: 125,389,560		probably benign	Het
Gm4858	T	A	3: 93,074,422	L249H	probably damaging	Het
Gmps	A	G	3: 64,001,517	H480R	probably benign	Het
Hecw1	G	A	13: 14,280,449	R674*	probably null	Het
Herc2	T	A	7: 56,157,509	F2478L	probably benign	Het
Homer2	C	T	7: 81,636,402	V21M	probably damaging	Het
Ifna9	A	G	4: 88,592,255	M44T	probably damaging	Het
Igfl3	A	G	7: 18,179,896	D57G	possibly damaging	Het
Jcad	T	C	18: 4,673,048	M270T	probably benign	Het
Kdm5b	T	C	1: 134,624,994	L1236P	probably damaging	Het
Kif14	T	A	1: 136,486,358	L724Q	probably damaging	Het
Lhb	T	C	7: 45,421,333	V45A	probably damaging	Het
Lhpp	A	G	7: 132,634,087	N134D	probably benign	Het
Mas1	T	C	17: 12,842,191	Y115C	probably damaging	Het
Mb21d1	T	C	9: 78,433,202	D416G	probably benign	Het
Mgam	A	T	6: 40,661,300	K395*	probably null	Het
Mms22l	A	G	4: 24,598,807	N1134S	probably damaging	Het
Mrc1	A	G	2: 14,325,381		probably null	Het
Mrgprg	G	A	7: 143,764,544	S277L	probably damaging	Het
Mrpl49	G	T	19: 6,056,980	P60T	possibly damaging	Het
Mrps10	G	A	17: 47,372,452	G104D	possibly damaging	Het
Msantd3	A	G	4: 48,552,771	Y120C	probably damaging	Het
N4bp2	C	T	5: 65,794,518		probably benign	Het
Nbea	A	G	3: 55,642,889	V2706A	probably benign	Het
Nfic	T	A	10: 81,420,684	M71L	possibly damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1112	A	G	2: 87,191,878	T64A	possibly damaging	Het
Olfr115	G	T	17: 37,609,912	P280T	probably damaging	Het
Olfr1202	T	A	2: 88,817,936	V255E	probably benign	Het
Olfr1234	A	G	2: 89,362,589	L280P	probably damaging	Het
Pak7	T	C	2: 136,085,588	I655V	possibly damaging	Het
Pip5k1c	A	G	10: 81,306,319	N121S	probably damaging	Het
Plce1	A	T	19: 38,760,077	I1737F	probably damaging	Het
Prrt1	T	C	17: 34,630,951	L113P	probably damaging	Het
Ptprq	T	A	10: 107,643,999	T1137S	probably benign	Het
Recql5	T	C	11: 115,923,309	I223V	probably benign	Het
Reg3g	A	T	6: 78,467,853	Y47*	probably null	Het
Rgs12	T	G	5: 34,965,821	M316R	probably damaging	Het
Ric1	T	C	19: 29,602,668	S1290P	probably benign	Het
Rpl36al	A	G	12: 69,182,923	C72R	probably damaging	Het
Rplp0	T	A	5: 115,563,315	F275L	possibly damaging	Het
Rpp30	G	A	19: 36,087,393	V89I	probably benign	Het
Ryr3	A	G	2: 112,709,137	F3253L	possibly damaging	Het
Serpina3n	A	T	12: 104,408,944	N92Y	probably benign	Het
Setd7	G	T	3: 51,542,831	T58N	probably benign	Het
Sh3tc2	T	A	18: 62,011,883	L1136Q	probably damaging	Het
Slc35b4	G	A	6: 34,158,505	Q291*	probably null	Het
Soga1	A	G	2: 157,040,261	C624R	possibly damaging	Het
Sort1	A	G	3: 108,340,695	N452S	probably benign	Het
Sympk	A	G	7: 19,029,145	I46V	probably benign	Het
Syngr2	T	C	11: 117,812,538	V60A	probably damaging	Het
Syt17	A	T	7: 118,408,118	F318I	probably benign	Het
Tgfb1	T	A	7: 25,692,466	L149M	probably damaging	Het
Ticam1	A	T	17: 56,271,897	M66K	probably benign	Het
Tmem131	G	T	1: 36,807,927	D1363E	probably benign	Het
Tns4	A	C	11: 99,080,100	D261E	probably damaging	Het
Trim30a	T	C	7: 104,429,210	N220D	probably benign	Het
Trmt10a	T	C	3: 138,156,720	L257P	probably damaging	Het
Troap	G	T	15: 99,075,352		probably benign	Het
Ttc6	T	C	12: 57,704,552		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vav1	A	C	17: 57,324,750	K775T	probably damaging	Het
Vmn1r236	A	G	17: 21,287,411	K264E	possibly damaging	Het
Vmn1r84	A	G	7: 12,362,628	V46A	probably benign	Het
Wdr59	A	T	8: 111,459,017	W835R	probably damaging	Het
Zfp513	T	G	5: 31,200,423	K202T	probably damaging	Het
Zfp7	T	G	15: 76,891,777	I673S	probably benign	Het
Zmynd11	A	G	13: 9,698,701	I108T	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
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
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'- TGTTTGAAGGCCAGGCAAGG -3'
(R):5'- TCCTCAGAATCAATATCGGTGG -3'

Sequencing Primer
(F):5'- AAGGCCCTTGTCTGATGC -3'
(R):5'- TCAATATCGGTGGCACATAAGAC -3'

Posted On

2014-06-30