Mutagenetix > Incidental Mutations

Incidental Mutation 'R7976:Frem3'

650915

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: 0.127) question?

Stock #

R7976 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 80611602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 175 (K175*)

Ref Sequence

ENSEMBL: ENSMUSP00000038015 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000039695
AA Change: K175*

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: K175*

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: 100.0%
10x: 99.8%
20x: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adssl1	A	C	12: 112,636,397	I341L	probably benign	Het
Aldh1b1	T	A	4: 45,803,092	M210K	possibly damaging	Het
Ankrd17	G	A	5: 90,283,592	Q778*	probably null	Het
Bmper	T	C	9: 23,406,810	V575A	probably damaging	Het
Brinp2	A	G	1: 158,246,343	V736A	probably benign	Het
Ccdc81	A	T	7: 89,866,515	L652*	probably null	Het
Cdt1	C	T	8: 122,571,846	R437W	probably damaging	Het
Ckb	A	C	12: 111,671,032	L165R	possibly damaging	Het
Col25a1	G	T	3: 130,496,426	G255V	probably damaging	Het
Ddx17	A	G	15: 79,535,955		probably null	Het
Ddx58	T	C	4: 40,209,894	M725V	probably damaging	Het
Dennd4a	G	T	9: 64,852,512	G300W	possibly damaging	Het
Dlg4	T	A	11: 70,039,182	I316N	probably damaging	Het
Dlgap2	C	T	8: 14,743,410	P467L	probably benign	Het
Dnah9	T	C	11: 65,841,401	I4226M	possibly damaging	Het
Drc1	G	A	5: 30,364,485	A734T	probably benign	Het
Entpd1	A	G	19: 40,612,421	M1V	probably null	Het
Exph5	T	G	9: 53,376,635	I1672S	possibly damaging	Het
Fam149b	T	A	14: 20,377,784	D379E	probably damaging	Het
Fgfr2	T	C	7: 130,185,344	T461A	probably damaging	Het
Frem1	A	G	4: 83,001,709	V469A	probably damaging	Het
Fsd2	C	T	7: 81,559,881	G71E	probably benign	Het
Gcat	T	C	15: 79,034,988	I116T	probably damaging	Het
Gigyf2	G	A	1: 87,403,736	S202N	unknown	Het
Glra3	T	G	8: 56,112,876		probably null	Het
Golga4	C	T	9: 118,536,768	T296I	possibly damaging	Het
Herc1	C	T	9: 66,434,270	T1816I	possibly damaging	Het
Igfbpl1	C	A	4: 45,826,786	R3L	unknown	Het
Ighv15-2	A	T	12: 114,564,850	S28T	probably benign	Het
Kat2b	T	A	17: 53,648,807	M427K	probably benign	Het
Kdm4c	A	G	4: 74,377,669	T882A	probably damaging	Het
Kif1a	G	T	1: 93,039,774	F1138L	probably damaging	Het
Klhl20	A	T	1: 161,106,737	S237R	probably benign	Het
Lamc1	A	T	1: 153,247,268	N725K	probably damaging	Het
Lmtk3	A	G	7: 45,795,466	D1191G	unknown	Het
Ltbp1	C	A	17: 75,363,363	N1466K	possibly damaging	Het
Ly75	T	C	2: 60,365,088	E242G	probably damaging	Het
Lyrm1	T	C	7: 119,916,226	V113A	probably benign	Het
Mfsd13a	G	T	19: 46,372,007	A333S	probably benign	Het
Mllt10	T	C	2: 18,162,403	S380P	possibly damaging	Het
Mrc2	A	G	11: 105,348,003	K1295E	possibly damaging	Het
Muc5ac	A	T	7: 141,809,791	I2280F	unknown	Het
Neurod2	A	C	11: 98,327,197	F380L	probably damaging	Het
Ntrk3	G	A	7: 78,356,206	A469V	probably damaging	Het
Nup205	T	C	6: 35,198,953	F584L	probably damaging	Het
Oas1d	A	T	5: 120,919,147	Y272F	probably damaging	Het
Olfm3	T	C	3: 115,081,145	V30A	probably benign	Het
Olfr1054	A	G	2: 86,332,720	V212A	probably benign	Het
Olfr1215	T	A	2: 89,001,629	I220F	probably damaging	Het
Olfr1472	A	G	19: 13,454,199	I106T	probably benign	Het
Pcdhga12	A	G	18: 37,768,374	Y753C	probably damaging	Het
Phox2b	A	G	5: 67,096,171	V294A	unknown	Het
Prdm2	A	T	4: 143,133,242	C1159*	probably null	Het
Ptpn12	G	T	5: 21,002,633	S275*	probably null	Het
Rnf223	A	T	4: 156,132,319	E50D	probably damaging	Het
Rrp12	A	T	19: 41,891,109	Y169N	probably benign	Het
Sgip1	T	C	4: 102,900,539		probably null	Het
Shank2	T	C	7: 144,411,061	I802T	probably damaging	Het
Skint2	A	T	4: 112,624,132	N64I	probably damaging	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Tmem106c	G	C	15: 97,968,104	G192R	probably damaging	Het
Tmem72	T	C	6: 116,696,839	H106R	probably damaging	Het
Upf2	G	C	2: 6,026,115	V789L	unknown	Het
Vash1	A	G	12: 86,679,984		probably benign	Het
Vmn1r201	T	A	13: 22,474,705	Y30N	probably benign	Het
Xpr1	A	G	1: 155,290,289	F571L	possibly damaging	Het
Yif1a	T	C	19: 5,089,787	S87P	probably damaging	Het
Zer1	T	C	2: 30,107,508	Y462C	probably damaging	Het
Zfp597	G	A	16: 3,866,511	P127L	possibly damaging	Het
Zxdc	T	C	6: 90,398,767	S742P	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	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
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'- GCCCAACAGGTTAAGTACACTC -3'
(R):5'- TAGCATGGGCACATAGTCCC -3'

Sequencing Primer
(F):5'- AGGTTAAGTACACTCACTTCGGC -3'
(R):5'- CTGGATAAAAGCCTCACAGTCGG -3'

Posted On

2020-09-15