Mutagenetix > Incidental Mutations

Incidental Mutation 'R2027:Frem3'

220806

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

040035-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R2027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80695337 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 2122 (C2122F)

Ref Sequence

ENSEMBL: ENSMUSP00000038015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039695] [ENSMUST00000043359]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039695
AA Change: C2122F

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: C2122F

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 benign
Transcript: ENSMUST00000043359

SMART Domains

Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715

Domain	Start	End	E-Value	Type
low complexity region	2	53	N/A	INTRINSIC
Pfam:DBINO	65	112	1.1e-4	PFAM
low complexity region	145	156	N/A	INTRINSIC
DEXDc	175	367	3.9e-46	SMART
Blast:DEXDc	386	421	6e-11	BLAST
HELICc	512	596	6.2e-28	SMART
low complexity region	756	768	N/A	INTRINSIC
low complexity region	820	837	N/A	INTRINSIC
SANT	840	889	2.3e-7	SMART
SANT	942	1006	3e-7	SMART
low complexity region	1008	1024	N/A	INTRINSIC

Meta Mutation Damage Score

0.1267

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (70/70)

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
1700014D04Rik	A	G	13: 59,742,587	M55T	possibly damaging	Het
4932438A13Rik	T	A	3: 37,047,961		probably benign	Het
A4gnt	T	C	9: 99,620,201	V138A	possibly damaging	Het
Aatk	A	G	11: 120,009,317	S1291P	probably damaging	Het
Adgrv1	C	T	13: 81,595,182	V67M	probably damaging	Het
Apoa4	G	A	9: 46,243,000	V300M	probably damaging	Het
Bcl2a1d	A	T	9: 88,731,385	V112E	possibly damaging	Het
Cabp2	T	A	19: 4,087,126	M166K	probably damaging	Het
Camsap1	A	G	2: 25,938,526	V1062A	possibly damaging	Het
Cap1	T	G	4: 122,862,893		probably benign	Het
Caprin2	A	G	6: 148,877,887	Y141H	probably damaging	Het
Card11	T	C	5: 140,906,767	Y181C	probably damaging	Het
Ccdc107	T	C	4: 43,495,874	V259A	probably benign	Het
Chd9	A	G	8: 90,907,991		probably benign	Het
Col12a1	T	C	9: 79,645,793		probably null	Het
Cuzd1	T	C	7: 131,320,091	T61A	possibly damaging	Het
Dbp	C	A	7: 45,708,276	D89E	probably benign	Het
Dhps	A	T	8: 85,072,611	N140Y	probably damaging	Het
Dido1	A	T	2: 180,689,181	L158*	probably null	Het
Dnah9	T	G	11: 65,955,338	N2958T	probably benign	Het
Dpp8	T	A	9: 65,078,774	Y849N	probably damaging	Het
Dsg2	A	G	18: 20,583,004		probably benign	Het
Efemp1	A	T	11: 28,914,696	Y250F	possibly damaging	Het
Fam92a	T	A	4: 12,171,216	D79V	probably damaging	Het
Faxc	T	C	4: 21,958,439		probably benign	Het
Gan	T	C	8: 117,187,499		probably null	Het
Gm11487	A	G	4: 73,403,058	I154T	possibly damaging	Het
Gnl1	A	G	17: 35,982,958	N274D	probably benign	Het
Hook3	T	C	8: 26,038,098	E588G	probably damaging	Het
Itpr1	C	A	6: 108,386,853	S812Y	possibly damaging	Het
Kbtbd3	C	T	9: 4,317,075		probably benign	Het
Macf1	C	T	4: 123,371,918	A4821T	probably damaging	Het
Mepe	T	C	5: 104,327,091	S13P	possibly damaging	Het
Myh11	A	G	16: 14,232,668	Y478H	probably damaging	Het
Myo7b	A	G	18: 31,984,960	V871A	probably benign	Het
Nckap1	A	T	2: 80,535,518	M466K	probably damaging	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Olfr1025-ps1	A	C	2: 85,918,770	S282R	probably damaging	Het
Olfr1107	T	A	2: 87,071,553	N194Y	possibly damaging	Het
Olfr1413	A	T	1: 92,573,767	T199S	probably damaging	Het
Olfr582	A	T	7: 103,041,524	H15L	probably benign	Het
Olfr731	A	G	14: 50,237,949	I312T	probably benign	Het
Olfr825	A	G	10: 130,162,735	I197T	probably benign	Het
Otof	T	C	5: 30,421,014	T97A	probably benign	Het
Peli2	G	A	14: 48,256,145	E275K	probably benign	Het
Pik3c2a	T	C	7: 116,350,822	Y1320C	probably damaging	Het
Pkn1	A	G	8: 83,671,378	V795A	probably damaging	Het
Pramel5	A	G	4: 144,271,704	L323P	probably damaging	Het
Prr5	A	T	15: 84,701,379	R183W	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rabgef1	A	G	5: 130,208,779	D231G	possibly damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rc3h1	C	T	1: 160,954,937	P662L	probably benign	Het
Rpl7a-ps5	G	T	17: 57,839,095	Q47K	probably benign	Het
Sclt1	G	A	3: 41,730,888	T45I	probably benign	Het
Slc22a17	A	G	14: 54,908,086	I202T	probably damaging	Het
Slc25a13	A	G	6: 6,073,487	L457S	probably damaging	Het
Slc44a3	T	C	3: 121,463,410		probably benign	Het
Slc7a9	G	A	7: 35,454,137	V188M	probably damaging	Het
Tmem161a	T	A	8: 70,177,520	F119I	probably damaging	Het
Tmem240	A	G	4: 155,735,435	D32G	possibly damaging	Het
Tmtc4	T	C	14: 122,921,265	N682S	probably benign	Het
Uqcrc1	G	A	9: 108,947,015	V262M	probably benign	Het
Vmn1r87	G	A	7: 13,131,896	R155C	probably damaging	Het
Vmn2r100	A	T	17: 19,522,072	Q236L	probably benign	Het
Vmn2r97	T	A	17: 18,929,682	I444N	unknown	Het
Wisp1	A	G	15: 66,917,409	E248G	possibly damaging	Het
Yif1a	A	T	19: 5,089,872	H115L	probably damaging	Het
Zfp280b	T	C	10: 76,038,494	L69S	probably damaging	Het
Zfp579	C	A	7: 4,993,521	E464*	probably null	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
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
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'- CTTTAGCCCAGGAGTGAGTG -3'
(R):5'- CTAGCACCAACTAGTAGAGAATGCTG -3'

Sequencing Primer
(F):5'- TGTGCAGAGACTCCGAGTGAC -3'
(R):5'- ACTAAGCTCTGGAATGGC -3'

Posted On

2014-08-25