Mutagenetix > Incidental Mutation

Incidental Mutation 'R5743:Frem3'

445672

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

043353-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R5743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81337709-81421985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81342407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1567 (T1567S)

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: T1567S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: T1567S

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,416,536 (GRCm39)		probably benign	Het
Ankef1	A	G	2: 136,391,629 (GRCm39)		probably null	Het
Arhgap20	T	A	9: 51,728,027 (GRCm39)	M80K	probably benign	Het
Arhgap29	T	G	3: 121,775,560 (GRCm39)	L37R	probably damaging	Het
Baiap3	G	A	17: 25,463,759 (GRCm39)	P906S	probably benign	Het
Caskin2	T	A	11: 115,693,115 (GRCm39)	N603I	possibly damaging	Het
Catspere2	G	T	1: 177,950,328 (GRCm39)		silent	Het
Ccdc159	A	T	9: 21,840,686 (GRCm39)	E84D	probably benign	Het
Ccl1	T	G	11: 82,067,712 (GRCm39)	S73R	possibly damaging	Het
Cdh20	G	T	1: 110,036,575 (GRCm39)	C585F	probably damaging	Het
Cga	T	C	4: 34,904,108 (GRCm39)		probably null	Het
Coq5	A	C	5: 115,417,941 (GRCm39)	E57A	probably benign	Het
Cstf1	T	A	2: 172,219,753 (GRCm39)	L288Q	probably damaging	Het
Ctsll3	G	T	13: 60,948,815 (GRCm39)	Q47K	probably benign	Het
Dchs1	T	A	7: 105,420,803 (GRCm39)	Q539L	probably benign	Het
Fbxo46	C	A	7: 18,870,420 (GRCm39)	D346E	probably damaging	Het
Glce	T	A	9: 61,977,822 (GRCm39)	T21S	probably damaging	Het
Gm19402	C	T	10: 77,526,516 (GRCm39)	D26N	probably damaging	Het
Gm20830	A	G	Y: 6,916,664 (GRCm39)	Y152H	probably damaging	Het
Herc3	T	C	6: 58,895,784 (GRCm39)	Y1011H	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Il31ra	G	T	13: 112,664,021 (GRCm39)	T552K	possibly damaging	Het
Itga2	A	G	13: 115,021,042 (GRCm39)	V86A	probably damaging	Het
Kcnk4	A	T	19: 6,905,723 (GRCm39)	N81K	possibly damaging	Het
Lrp2	C	A	2: 69,297,221 (GRCm39)	D3247Y	probably damaging	Het
Maml3	G	T	3: 52,011,553 (GRCm39)	F4L	unknown	Het
Mcpt1	A	T	14: 56,256,072 (GRCm39)	H37L	probably benign	Het
Mpdz	T	C	4: 81,339,425 (GRCm39)	M1V	probably null	Het
Myom2	A	T	8: 15,130,914 (GRCm39)	K283N	possibly damaging	Het
Nrxn1	C	A	17: 90,950,652 (GRCm39)	R509L	probably damaging	Het
Ntng1	T	A	3: 110,042,736 (GRCm39)	Y30F	probably damaging	Het
Or52e7	A	G	7: 104,685,363 (GRCm39)		probably null	Het
Or8c13	C	A	9: 38,092,014 (GRCm39)	C35F	probably benign	Het
Or8h8	C	A	2: 86,753,549 (GRCm39)	G109V	probably benign	Het
Orc6	A	T	8: 86,029,585 (GRCm39)	Q43L	probably benign	Het
Otogl	G	A	10: 107,692,862 (GRCm39)	S874L	possibly damaging	Het
Pcdh9	T	C	14: 94,124,160 (GRCm39)	D670G	probably damaging	Het
Pcdhga9	A	T	18: 37,871,859 (GRCm39)	I563F	probably damaging	Het
Plxna1	A	T	6: 89,333,511 (GRCm39)	S373T	probably damaging	Het
Prop1	T	C	11: 50,841,836 (GRCm39)	D190G	probably damaging	Het
Qrich1	T	A	9: 108,411,314 (GRCm39)	Y280N	probably damaging	Het
Rasl10a	T	A	11: 5,009,519 (GRCm39)	D102E	probably benign	Het
Rgs1	T	C	1: 144,121,110 (GRCm39)	Y187C	probably damaging	Het
Sema5b	T	A	16: 35,478,846 (GRCm39)	W557R	probably damaging	Het
Sh2b3	A	T	5: 121,966,520 (GRCm39)	L198H	probably damaging	Het
Slc27a3	G	T	3: 90,294,379 (GRCm39)	T429K	probably benign	Het
Slc35f1	T	G	10: 52,965,546 (GRCm39)	D320E	probably benign	Het
Smug1	C	A	15: 103,066,043 (GRCm39)		probably null	Het
Spata31f3	G	A	4: 42,873,087 (GRCm39)	T68I	probably damaging	Het
Ssrp1	T	A	2: 84,871,512 (GRCm39)	Y311*	probably null	Het
Svep1	T	C	4: 58,096,223 (GRCm39)	T1466A	possibly damaging	Het
Tmem130	A	G	5: 144,687,749 (GRCm39)	S196P	probably damaging	Het
Trim30d	A	T	7: 104,121,535 (GRCm39)	C176*	probably null	Het
Ush2a	A	G	1: 188,169,159 (GRCm39)	H1100R	probably benign	Het
Vezt	A	T	10: 93,832,957 (GRCm39)	F151L	probably benign	Het
Vps35l	A	G	7: 118,396,234 (GRCm39)	T538A	possibly damaging	Het
Zc3h3	G	T	15: 75,651,380 (GRCm39)	C638*	probably null	Het
Zfp128	C	T	7: 12,618,654 (GRCm39)	R51C	probably damaging	Het
Zfp141	T	G	7: 42,125,855 (GRCm39)	I206L	possibly damaging	Het
Zfp369	G	T	13: 65,443,494 (GRCm39)	K324N	probably benign	Het

Other mutations in Frem3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Frem3	APN	8	81,395,439 (GRCm39)	missense	possibly damaging	0.75
IGL01019:Frem3	APN	8	81,341,763 (GRCm39)	missense	probably benign	0.02
IGL01470:Frem3	APN	8	81,340,944 (GRCm39)	missense	probably damaging	1.00
IGL01609:Frem3	APN	8	81,339,333 (GRCm39)	missense	probably benign	0.00
IGL01622:Frem3	APN	8	81,340,544 (GRCm39)	missense	probably benign	0.01
IGL01623:Frem3	APN	8	81,340,544 (GRCm39)	missense	probably benign	0.01
IGL01751:Frem3	APN	8	81,342,372 (GRCm39)	missense	probably benign	0.33
IGL02037:Frem3	APN	8	81,338,118 (GRCm39)	missense	probably benign	0.31
IGL02039:Frem3	APN	8	81,339,600 (GRCm39)	missense	probably damaging	1.00
IGL02084:Frem3	APN	8	81,339,072 (GRCm39)	missense	possibly damaging	0.95
IGL02124:Frem3	APN	8	81,339,723 (GRCm39)	missense	probably damaging	0.99
IGL02140:Frem3	APN	8	81,340,736 (GRCm39)	missense	possibly damaging	0.84
IGL02836:Frem3	APN	8	81,341,010 (GRCm39)	missense	probably benign
IGL03090:Frem3	APN	8	81,344,858 (GRCm39)	missense	probably benign	0.01
IGL03102:Frem3	APN	8	81,339,661 (GRCm39)	missense	possibly damaging	0.92
IGL03116:Frem3	APN	8	81,339,435 (GRCm39)	missense	possibly damaging	0.84
IGL03165:Frem3	APN	8	81,339,158 (GRCm39)	missense	probably benign	0.26
IGL03224:Frem3	APN	8	81,340,092 (GRCm39)	missense	probably damaging	1.00
IGL03401:Frem3	APN	8	81,341,170 (GRCm39)	missense	probably damaging	1.00
IGL03403:Frem3	APN	8	81,337,719 (GRCm39)	missense	probably benign	0.04
FR4340:Frem3	UTSW	8	81,341,870 (GRCm39)	small insertion	probably benign
FR4976:Frem3	UTSW	8	81,341,870 (GRCm39)	small insertion	probably benign
IGL02991:Frem3	UTSW	8	81,395,511 (GRCm39)	missense	probably damaging	1.00
IGL03052:Frem3	UTSW	8	81,341,159 (GRCm39)	missense	probably damaging	1.00
R0089:Frem3	UTSW	8	81,342,507 (GRCm39)	missense	possibly damaging	0.94
R0647:Frem3	UTSW	8	81,341,814 (GRCm39)	missense	probably damaging	1.00
R0690:Frem3	UTSW	8	81,340,581 (GRCm39)	missense	possibly damaging	0.84
R0766:Frem3	UTSW	8	81,341,951 (GRCm39)	missense	probably benign
R0834:Frem3	UTSW	8	81,413,637 (GRCm39)	missense	probably damaging	1.00
R0909:Frem3	UTSW	8	81,390,035 (GRCm39)	missense	probably benign	0.45
R1033:Frem3	UTSW	8	81,421,786 (GRCm39)	missense	probably benign	0.00
R1144:Frem3	UTSW	8	81,338,513 (GRCm39)	missense	probably benign	0.01
R1312:Frem3	UTSW	8	81,341,951 (GRCm39)	missense	probably benign
R1330:Frem3	UTSW	8	81,395,468 (GRCm39)	missense	probably damaging	0.99
R1355:Frem3	UTSW	8	81,417,331 (GRCm39)	missense	probably damaging	1.00
R1390:Frem3	UTSW	8	81,417,402 (GRCm39)	missense	probably damaging	0.99
R1413:Frem3	UTSW	8	81,395,430 (GRCm39)	missense	probably benign
R1470:Frem3	UTSW	8	81,337,820 (GRCm39)	missense	probably benign	0.05
R1470:Frem3	UTSW	8	81,337,820 (GRCm39)	missense	probably benign	0.05
R1503:Frem3	UTSW	8	81,413,647 (GRCm39)	missense	probably damaging	0.99
R1538:Frem3	UTSW	8	81,339,764 (GRCm39)	missense	probably benign	0.00
R1538:Frem3	UTSW	8	81,339,339 (GRCm39)	missense	probably damaging	1.00
R1612:Frem3	UTSW	8	81,341,490 (GRCm39)	missense	probably damaging	1.00
R1793:Frem3	UTSW	8	81,339,741 (GRCm39)	missense	probably benign	0.03
R1872:Frem3	UTSW	8	81,339,205 (GRCm39)	missense	probably damaging	1.00
R1879:Frem3	UTSW	8	81,338,567 (GRCm39)	nonsense	probably null
R1886:Frem3	UTSW	8	81,340,514 (GRCm39)	missense	probably benign	0.00
R1933:Frem3	UTSW	8	81,339,519 (GRCm39)	missense	probably benign	0.00
R2027:Frem3	UTSW	8	81,421,966 (GRCm39)	missense	possibly damaging	0.75
R2040:Frem3	UTSW	8	81,342,455 (GRCm39)	missense	possibly damaging	0.92
R2050:Frem3	UTSW	8	81,341,520 (GRCm39)	missense	probably damaging	1.00
R2079:Frem3	UTSW	8	81,341,732 (GRCm39)	missense	probably benign	0.03
R2099:Frem3	UTSW	8	81,342,488 (GRCm39)	missense	probably benign	0.06
R2120:Frem3	UTSW	8	81,342,086 (GRCm39)	missense	probably benign	0.20
R2842:Frem3	UTSW	8	81,395,978 (GRCm39)	splice site	probably null
R2845:Frem3	UTSW	8	81,339,849 (GRCm39)	missense	probably damaging	1.00
R3015:Frem3	UTSW	8	81,417,402 (GRCm39)	missense	probably damaging	0.99
R3442:Frem3	UTSW	8	81,339,669 (GRCm39)	missense	probably damaging	1.00
R3724:Frem3	UTSW	8	81,341,900 (GRCm39)	missense	probably benign	0.06
R3730:Frem3	UTSW	8	81,342,545 (GRCm39)	missense	probably damaging	0.99
R3939:Frem3	UTSW	8	81,341,649 (GRCm39)	missense	possibly damaging	0.84
R3940:Frem3	UTSW	8	81,341,649 (GRCm39)	missense	possibly damaging	0.84
R3941:Frem3	UTSW	8	81,341,649 (GRCm39)	missense	possibly damaging	0.84
R4089:Frem3	UTSW	8	81,341,802 (GRCm39)	missense	probably damaging	1.00
R4282:Frem3	UTSW	8	81,340,770 (GRCm39)	missense	probably benign	0.00
R4437:Frem3	UTSW	8	81,339,236 (GRCm39)	missense	probably benign	0.30
R4480:Frem3	UTSW	8	81,337,986 (GRCm39)	missense	probably benign	0.10
R4575:Frem3	UTSW	8	81,342,704 (GRCm39)	missense	probably benign	0.17
R4583:Frem3	UTSW	8	81,340,143 (GRCm39)	missense	probably benign	0.03
R4620:Frem3	UTSW	8	81,395,586 (GRCm39)	missense	possibly damaging	0.82
R4621:Frem3	UTSW	8	81,395,820 (GRCm39)	splice site	probably null
R4644:Frem3	UTSW	8	81,340,356 (GRCm39)	missense	probably benign	0.33
R4667:Frem3	UTSW	8	81,390,049 (GRCm39)	missense	probably damaging	0.97
R4748:Frem3	UTSW	8	81,338,088 (GRCm39)	missense	probably damaging	1.00
R4823:Frem3	UTSW	8	81,340,587 (GRCm39)	missense	probably benign	0.25
R4836:Frem3	UTSW	8	81,390,026 (GRCm39)	missense	probably damaging	0.99
R4867:Frem3	UTSW	8	81,339,912 (GRCm39)	missense	probably damaging	1.00
R4921:Frem3	UTSW	8	81,339,765 (GRCm39)	missense	possibly damaging	0.83
R5030:Frem3	UTSW	8	81,339,876 (GRCm39)	missense	possibly damaging	0.89
R5035:Frem3	UTSW	8	81,342,543 (GRCm39)	missense	probably damaging	0.97
R5172:Frem3	UTSW	8	81,339,195 (GRCm39)	missense	probably benign	0.44
R5289:Frem3	UTSW	8	81,338,948 (GRCm39)	missense	probably benign	0.00
R5492:Frem3	UTSW	8	81,339,306 (GRCm39)	missense	probably damaging	1.00
R5655:Frem3	UTSW	8	81,339,323 (GRCm39)	missense	probably benign	0.00
R5685:Frem3	UTSW	8	81,421,932 (GRCm39)	missense	probably damaging	1.00
R5723:Frem3	UTSW	8	81,340,026 (GRCm39)	missense	probably benign	0.02
R5889:Frem3	UTSW	8	81,340,917 (GRCm39)	missense	probably damaging	1.00
R6048:Frem3	UTSW	8	81,340,062 (GRCm39)	missense	probably benign	0.03
R6057:Frem3	UTSW	8	81,342,216 (GRCm39)	missense	probably damaging	0.99
R6137:Frem3	UTSW	8	81,341,676 (GRCm39)	missense	probably benign
R6264:Frem3	UTSW	8	81,341,832 (GRCm39)	missense	probably damaging	1.00
R6339:Frem3	UTSW	8	81,339,644 (GRCm39)	missense	possibly damaging	0.84
R6418:Frem3	UTSW	8	81,337,781 (GRCm39)	missense	probably benign	0.08
R6680:Frem3	UTSW	8	81,395,949 (GRCm39)	missense	probably damaging	1.00
R6773:Frem3	UTSW	8	81,338,444 (GRCm39)	missense	probably damaging	1.00
R6838:Frem3	UTSW	8	81,338,660 (GRCm39)	missense	probably damaging	1.00
R6928:Frem3	UTSW	8	81,337,911 (GRCm39)	missense	possibly damaging	0.48
R6939:Frem3	UTSW	8	81,341,774 (GRCm39)	missense	probably benign	0.23
R6995:Frem3	UTSW	8	81,339,208 (GRCm39)	missense	probably damaging	0.98
R7112:Frem3	UTSW	8	81,338,660 (GRCm39)	missense	probably damaging	1.00
R7155:Frem3	UTSW	8	81,342,668 (GRCm39)	missense	probably benign	0.01
R7235:Frem3	UTSW	8	81,417,354 (GRCm39)	missense	probably benign	0.00
R7282:Frem3	UTSW	8	81,338,660 (GRCm39)	missense	probably damaging	1.00
R7403:Frem3	UTSW	8	81,342,774 (GRCm39)	missense	probably damaging	1.00
R7422:Frem3	UTSW	8	81,342,392 (GRCm39)	missense	probably benign	0.00
R7485:Frem3	UTSW	8	81,339,965 (GRCm39)	missense	probably damaging	1.00
R7516:Frem3	UTSW	8	81,338,712 (GRCm39)	missense	probably damaging	0.99
R7858:Frem3	UTSW	8	81,338,350 (GRCm39)	nonsense	probably null
R7976:Frem3	UTSW	8	81,338,231 (GRCm39)	nonsense	probably null
R8171:Frem3	UTSW	8	81,341,869 (GRCm39)	missense	probably damaging	1.00
R8185:Frem3	UTSW	8	81,338,933 (GRCm39)	nonsense	probably null
R8306:Frem3	UTSW	8	81,338,840 (GRCm39)	missense	possibly damaging	0.95
R8478:Frem3	UTSW	8	81,338,187 (GRCm39)	missense	probably damaging	1.00
R8518:Frem3	UTSW	8	81,339,224 (GRCm39)	missense	probably damaging	1.00
R8794:Frem3	UTSW	8	81,342,851 (GRCm39)	missense	probably benign	0.02
R8794:Frem3	UTSW	8	81,338,907 (GRCm39)	missense	probably damaging	1.00
R8806:Frem3	UTSW	8	81,390,064 (GRCm39)	missense	probably benign	0.30
R8833:Frem3	UTSW	8	81,339,401 (GRCm39)	missense	probably benign	0.29
R8879:Frem3	UTSW	8	81,339,777 (GRCm39)	missense	probably damaging	0.98
R8897:Frem3	UTSW	8	81,339,419 (GRCm39)	missense	probably damaging	1.00
R8983:Frem3	UTSW	8	81,395,875 (GRCm39)	missense	probably damaging	1.00
R9207:Frem3	UTSW	8	81,340,071 (GRCm39)	missense	possibly damaging	0.73
R9277:Frem3	UTSW	8	81,417,402 (GRCm39)	missense	probably damaging	0.96
R9536:Frem3	UTSW	8	81,342,048 (GRCm39)	missense	probably benign	0.00
R9596:Frem3	UTSW	8	81,341,951 (GRCm39)	missense	probably benign
R9649:Frem3	UTSW	8	81,341,145 (GRCm39)	missense	probably damaging	1.00
R9671:Frem3	UTSW	8	81,339,134 (GRCm39)	missense	probably benign	0.00
R9723:Frem3	UTSW	8	81,341,352 (GRCm39)	missense	probably benign
R9790:Frem3	UTSW	8	81,339,890 (GRCm39)	missense	probably benign	0.01
R9791:Frem3	UTSW	8	81,339,890 (GRCm39)	missense	probably benign	0.01
RF030:Frem3	UTSW	8	81,341,867 (GRCm39)	small insertion	probably benign
RF034:Frem3	UTSW	8	81,341,867 (GRCm39)	small insertion	probably benign
RF042:Frem3	UTSW	8	81,341,867 (GRCm39)	small insertion	probably benign
X0024:Frem3	UTSW	8	81,339,710 (GRCm39)	missense	possibly damaging	0.76
X0027:Frem3	UTSW	8	81,339,017 (GRCm39)	nonsense	probably null
Z1088:Frem3	UTSW	8	81,342,055 (GRCm39)	missense	probably benign	0.04
Z1176:Frem3	UTSW	8	81,342,060 (GRCm39)	missense	probably benign	0.03
Z1176:Frem3	UTSW	8	81,338,132 (GRCm39)	missense	probably damaging	0.99
Z1177:Frem3	UTSW	8	81,342,758 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ACTTTGAGCTTAGAGTGACTGG -3'
(R):5'- TGTGTCTCCAGGGAAGTGTC -3'

Sequencing Primer
(F):5'- TGGAGGACACCACTCTGAGTC -3'
(R):5'- TGTCTGGGAAGACATAGAAGCCTG -3'

Posted On

2016-11-21