Mutagenetix > Incidental Mutation

Incidental Mutation 'R3939:Frem3'

308603

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

040826-MU

Accession Numbers

Essential gene?

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

Stock #

R3939 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80615020 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1314 (I1314T)

Ref Sequence

ENSEMBL: ENSMUSP00000038015 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039695
AA Change: I1314T

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: I1314T

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

0.1245

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529 (GRCm38)	A53T	probably benign	Het
Atp13a2	T	C	4: 141,006,422 (GRCm38)	S1041P	probably damaging	Het
Brinp3	C	A	1: 146,751,861 (GRCm38)	D277E	probably damaging	Het
Cacnb4	C	A	2: 52,469,489 (GRCm38)	R169L	probably damaging	Het
Col13a1	T	C	10: 61,863,082 (GRCm38)	I491V	unknown	Het
Corin	T	C	5: 72,339,879 (GRCm38)	D531G	possibly damaging	Het
Cx3cr1	C	T	9: 120,051,644 (GRCm38)	V231I	probably benign	Het
Dennd4c	T	G	4: 86,774,280 (GRCm38)	V9G	probably damaging	Het
Dysf	G	A	6: 84,186,509 (GRCm38)		probably null	Het
Faf1	T	G	4: 109,861,879 (GRCm38)	L394R	probably damaging	Het
Fgfr4	G	A	13: 55,156,494 (GRCm38)	D116N	probably null	Het
Flt3	A	G	5: 147,356,243 (GRCm38)	Y518H	possibly damaging	Het
Gk2	T	A	5: 97,455,352 (GRCm38)	L542F	possibly damaging	Het
Gm4922	T	A	10: 18,784,614 (GRCm38)	E120V	probably damaging	Het
Hip1	A	T	5: 135,428,764 (GRCm38)	I285N	probably benign	Het
Kcnd2	C	A	6: 21,217,096 (GRCm38)	D266E	probably damaging	Het
Kdr	C	T	5: 75,972,429 (GRCm38)	W63*	probably null	Het
Kit	A	G	5: 75,609,318 (GRCm38)	D130G	probably benign	Het
Megf8	G	A	7: 25,359,202 (GRCm38)	V2208I	probably benign	Het
Neto2	G	A	8: 85,674,118 (GRCm38)	T16I	probably damaging	Het
Nktr	T	A	9: 121,749,069 (GRCm38)		probably benign	Het
Nrxn1	A	G	17: 90,208,421 (GRCm38)	I1207T	probably damaging	Het
Obox7	G	A	7: 14,664,047 (GRCm38)	G4D	probably benign	Het
Ogdh	G	A	11: 6,350,655 (GRCm38)	W827*	probably null	Het
Olfr1223	T	A	2: 89,144,130 (GRCm38)	K298*	probably null	Het
Olfr309	T	C	7: 86,306,229 (GRCm38)	M295V	probably benign	Het
Olfr726	A	G	14: 50,083,716 (GRCm38)	*322Q	probably null	Het
Pcdhga9	G	A	18: 37,738,942 (GRCm38)	R608H	probably benign	Het
Rin2	C	T	2: 145,860,446 (GRCm38)	T354I	probably benign	Het
Sbpl	T	A	17: 23,953,643 (GRCm38)	I101L	probably benign	Het
Serpina9	T	A	12: 104,008,892 (GRCm38)	M1L	probably benign	Het
Stxbp6	A	G	12: 44,902,858 (GRCm38)		probably null	Het
Synpo2	A	G	3: 123,114,590 (GRCm38)	V359A	probably damaging	Het
Ttyh1	T	A	7: 4,129,318 (GRCm38)	L155H	probably damaging	Het
Vil1	A	G	1: 74,432,415 (GRCm38)	D785G	probably benign	Het
Zfp345	G	A	2: 150,472,553 (GRCm38)	H355Y	probably damaging	Het

Other mutations in Frem3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Frem3	APN	8	80,668,810 (GRCm38)	missense	possibly damaging	0.75
IGL01019:Frem3	APN	8	80,615,134 (GRCm38)	missense	probably benign	0.02
IGL01470:Frem3	APN	8	80,614,315 (GRCm38)	missense	probably damaging	1.00
IGL01609:Frem3	APN	8	80,612,704 (GRCm38)	missense	probably benign	0.00
IGL01622:Frem3	APN	8	80,613,915 (GRCm38)	missense	probably benign	0.01
IGL01623:Frem3	APN	8	80,613,915 (GRCm38)	missense	probably benign	0.01
IGL01751:Frem3	APN	8	80,615,743 (GRCm38)	missense	probably benign	0.33
IGL02037:Frem3	APN	8	80,611,489 (GRCm38)	missense	probably benign	0.31
IGL02039:Frem3	APN	8	80,612,971 (GRCm38)	missense	probably damaging	1.00
IGL02084:Frem3	APN	8	80,612,443 (GRCm38)	missense	possibly damaging	0.95
IGL02124:Frem3	APN	8	80,613,094 (GRCm38)	missense	probably damaging	0.99
IGL02140:Frem3	APN	8	80,614,107 (GRCm38)	missense	possibly damaging	0.84
IGL02836:Frem3	APN	8	80,614,381 (GRCm38)	missense	probably benign
IGL03090:Frem3	APN	8	80,618,229 (GRCm38)	missense	probably benign	0.01
IGL03102:Frem3	APN	8	80,613,032 (GRCm38)	missense	possibly damaging	0.92
IGL03116:Frem3	APN	8	80,612,806 (GRCm38)	missense	possibly damaging	0.84
IGL03165:Frem3	APN	8	80,612,529 (GRCm38)	missense	probably benign	0.26
IGL03224:Frem3	APN	8	80,613,463 (GRCm38)	missense	probably damaging	1.00
IGL03401:Frem3	APN	8	80,614,541 (GRCm38)	missense	probably damaging	1.00
IGL03403:Frem3	APN	8	80,611,090 (GRCm38)	missense	probably benign	0.04
FR4340:Frem3	UTSW	8	80,615,241 (GRCm38)	small insertion	probably benign
FR4976:Frem3	UTSW	8	80,615,241 (GRCm38)	small insertion	probably benign
IGL02991:Frem3	UTSW	8	80,668,882 (GRCm38)	missense	probably damaging	1.00
IGL03052:Frem3	UTSW	8	80,614,530 (GRCm38)	missense	probably damaging	1.00
R0089:Frem3	UTSW	8	80,615,878 (GRCm38)	missense	possibly damaging	0.94
R0647:Frem3	UTSW	8	80,615,185 (GRCm38)	missense	probably damaging	1.00
R0690:Frem3	UTSW	8	80,613,952 (GRCm38)	missense	possibly damaging	0.84
R0766:Frem3	UTSW	8	80,615,322 (GRCm38)	missense	probably benign
R0834:Frem3	UTSW	8	80,687,008 (GRCm38)	missense	probably damaging	1.00
R0909:Frem3	UTSW	8	80,663,406 (GRCm38)	missense	probably benign	0.45
R1033:Frem3	UTSW	8	80,695,157 (GRCm38)	missense	probably benign	0.00
R1144:Frem3	UTSW	8	80,611,884 (GRCm38)	missense	probably benign	0.01
R1312:Frem3	UTSW	8	80,615,322 (GRCm38)	missense	probably benign
R1330:Frem3	UTSW	8	80,668,839 (GRCm38)	missense	probably damaging	0.99
R1355:Frem3	UTSW	8	80,690,702 (GRCm38)	missense	probably damaging	1.00
R1390:Frem3	UTSW	8	80,690,773 (GRCm38)	missense	probably damaging	0.99
R1413:Frem3	UTSW	8	80,668,801 (GRCm38)	missense	probably benign
R1470:Frem3	UTSW	8	80,611,191 (GRCm38)	missense	probably benign	0.05
R1470:Frem3	UTSW	8	80,611,191 (GRCm38)	missense	probably benign	0.05
R1503:Frem3	UTSW	8	80,687,018 (GRCm38)	missense	probably damaging	0.99
R1538:Frem3	UTSW	8	80,613,135 (GRCm38)	missense	probably benign	0.00
R1538:Frem3	UTSW	8	80,612,710 (GRCm38)	missense	probably damaging	1.00
R1612:Frem3	UTSW	8	80,614,861 (GRCm38)	missense	probably damaging	1.00
R1793:Frem3	UTSW	8	80,613,112 (GRCm38)	missense	probably benign	0.03
R1872:Frem3	UTSW	8	80,612,576 (GRCm38)	missense	probably damaging	1.00
R1879:Frem3	UTSW	8	80,611,938 (GRCm38)	nonsense	probably null
R1886:Frem3	UTSW	8	80,613,885 (GRCm38)	missense	probably benign	0.00
R1933:Frem3	UTSW	8	80,612,890 (GRCm38)	missense	probably benign	0.00
R2027:Frem3	UTSW	8	80,695,337 (GRCm38)	missense	possibly damaging	0.75
R2040:Frem3	UTSW	8	80,615,826 (GRCm38)	missense	possibly damaging	0.92
R2050:Frem3	UTSW	8	80,614,891 (GRCm38)	missense	probably damaging	1.00
R2079:Frem3	UTSW	8	80,615,103 (GRCm38)	missense	probably benign	0.03
R2099:Frem3	UTSW	8	80,615,859 (GRCm38)	missense	probably benign	0.06
R2120:Frem3	UTSW	8	80,615,457 (GRCm38)	missense	probably benign	0.20
R2842:Frem3	UTSW	8	80,669,349 (GRCm38)	splice site	probably null
R2845:Frem3	UTSW	8	80,613,220 (GRCm38)	missense	probably damaging	1.00
R3015:Frem3	UTSW	8	80,690,773 (GRCm38)	missense	probably damaging	0.99
R3442:Frem3	UTSW	8	80,613,040 (GRCm38)	missense	probably damaging	1.00
R3724:Frem3	UTSW	8	80,615,271 (GRCm38)	missense	probably benign	0.06
R3730:Frem3	UTSW	8	80,615,916 (GRCm38)	missense	probably damaging	0.99
R3940:Frem3	UTSW	8	80,615,020 (GRCm38)	missense	possibly damaging	0.84
R3941:Frem3	UTSW	8	80,615,020 (GRCm38)	missense	possibly damaging	0.84
R4089:Frem3	UTSW	8	80,615,173 (GRCm38)	missense	probably damaging	1.00
R4282:Frem3	UTSW	8	80,614,141 (GRCm38)	missense	probably benign	0.00
R4437:Frem3	UTSW	8	80,612,607 (GRCm38)	missense	probably benign	0.30
R4480:Frem3	UTSW	8	80,611,357 (GRCm38)	missense	probably benign	0.10
R4575:Frem3	UTSW	8	80,616,075 (GRCm38)	missense	probably benign	0.17
R4583:Frem3	UTSW	8	80,613,514 (GRCm38)	missense	probably benign	0.03
R4620:Frem3	UTSW	8	80,668,957 (GRCm38)	missense	possibly damaging	0.82
R4621:Frem3	UTSW	8	80,669,191 (GRCm38)	splice site	probably null
R4644:Frem3	UTSW	8	80,613,727 (GRCm38)	missense	probably benign	0.33
R4667:Frem3	UTSW	8	80,663,420 (GRCm38)	missense	probably damaging	0.97
R4748:Frem3	UTSW	8	80,611,459 (GRCm38)	missense	probably damaging	1.00
R4823:Frem3	UTSW	8	80,613,958 (GRCm38)	missense	probably benign	0.25
R4836:Frem3	UTSW	8	80,663,397 (GRCm38)	missense	probably damaging	0.99
R4867:Frem3	UTSW	8	80,613,283 (GRCm38)	missense	probably damaging	1.00
R4921:Frem3	UTSW	8	80,613,136 (GRCm38)	missense	possibly damaging	0.83
R5030:Frem3	UTSW	8	80,613,247 (GRCm38)	missense	possibly damaging	0.89
R5035:Frem3	UTSW	8	80,615,914 (GRCm38)	missense	probably damaging	0.97
R5172:Frem3	UTSW	8	80,612,566 (GRCm38)	missense	probably benign	0.44
R5289:Frem3	UTSW	8	80,612,319 (GRCm38)	missense	probably benign	0.00
R5492:Frem3	UTSW	8	80,612,677 (GRCm38)	missense	probably damaging	1.00
R5655:Frem3	UTSW	8	80,612,694 (GRCm38)	missense	probably benign	0.00
R5685:Frem3	UTSW	8	80,695,303 (GRCm38)	missense	probably damaging	1.00
R5723:Frem3	UTSW	8	80,613,397 (GRCm38)	missense	probably benign	0.02
R5743:Frem3	UTSW	8	80,615,778 (GRCm38)	missense	probably damaging	0.98
R5889:Frem3	UTSW	8	80,614,288 (GRCm38)	missense	probably damaging	1.00
R6048:Frem3	UTSW	8	80,613,433 (GRCm38)	missense	probably benign	0.03
R6057:Frem3	UTSW	8	80,615,587 (GRCm38)	missense	probably damaging	0.99
R6137:Frem3	UTSW	8	80,615,047 (GRCm38)	missense	probably benign
R6264:Frem3	UTSW	8	80,615,203 (GRCm38)	missense	probably damaging	1.00
R6339:Frem3	UTSW	8	80,613,015 (GRCm38)	missense	possibly damaging	0.84
R6418:Frem3	UTSW	8	80,611,152 (GRCm38)	missense	probably benign	0.08
R6680:Frem3	UTSW	8	80,669,320 (GRCm38)	missense	probably damaging	1.00
R6773:Frem3	UTSW	8	80,611,815 (GRCm38)	missense	probably damaging	1.00
R6838:Frem3	UTSW	8	80,612,031 (GRCm38)	missense	probably damaging	1.00
R6928:Frem3	UTSW	8	80,611,282 (GRCm38)	missense	possibly damaging	0.48
R6939:Frem3	UTSW	8	80,615,145 (GRCm38)	missense	probably benign	0.23
R6995:Frem3	UTSW	8	80,612,579 (GRCm38)	missense	probably damaging	0.98
R7112:Frem3	UTSW	8	80,612,031 (GRCm38)	missense	probably damaging	1.00
R7155:Frem3	UTSW	8	80,616,039 (GRCm38)	missense	probably benign	0.01
R7235:Frem3	UTSW	8	80,690,725 (GRCm38)	missense	probably benign	0.00
R7282:Frem3	UTSW	8	80,612,031 (GRCm38)	missense	probably damaging	1.00
R7403:Frem3	UTSW	8	80,616,145 (GRCm38)	missense	probably damaging	1.00
R7422:Frem3	UTSW	8	80,615,763 (GRCm38)	missense	probably benign	0.00
R7485:Frem3	UTSW	8	80,613,336 (GRCm38)	missense	probably damaging	1.00
R7516:Frem3	UTSW	8	80,612,083 (GRCm38)	missense	probably damaging	0.99
R7858:Frem3	UTSW	8	80,611,721 (GRCm38)	nonsense	probably null
R7976:Frem3	UTSW	8	80,611,602 (GRCm38)	nonsense	probably null
R8171:Frem3	UTSW	8	80,615,240 (GRCm38)	missense	probably damaging	1.00
R8185:Frem3	UTSW	8	80,612,304 (GRCm38)	nonsense	probably null
R8306:Frem3	UTSW	8	80,612,211 (GRCm38)	missense	possibly damaging	0.95
R8478:Frem3	UTSW	8	80,611,558 (GRCm38)	missense	probably damaging	1.00
R8518:Frem3	UTSW	8	80,612,595 (GRCm38)	missense	probably damaging	1.00
R8794:Frem3	UTSW	8	80,616,222 (GRCm38)	missense	probably benign	0.02
R8794:Frem3	UTSW	8	80,612,278 (GRCm38)	missense	probably damaging	1.00
R8806:Frem3	UTSW	8	80,663,435 (GRCm38)	missense	probably benign	0.30
R8833:Frem3	UTSW	8	80,612,772 (GRCm38)	missense	probably benign	0.29
R8879:Frem3	UTSW	8	80,613,148 (GRCm38)	missense	probably damaging	0.98
R8897:Frem3	UTSW	8	80,612,790 (GRCm38)	missense	probably damaging	1.00
R8983:Frem3	UTSW	8	80,669,246 (GRCm38)	missense	probably damaging	1.00
R9207:Frem3	UTSW	8	80,613,442 (GRCm38)	missense	possibly damaging	0.73
R9277:Frem3	UTSW	8	80,690,773 (GRCm38)	missense	probably damaging	0.96
R9536:Frem3	UTSW	8	80,615,419 (GRCm38)	missense	probably benign	0.00
R9596:Frem3	UTSW	8	80,615,322 (GRCm38)	missense	probably benign
R9649:Frem3	UTSW	8	80,614,516 (GRCm38)	missense	probably damaging	1.00
R9671:Frem3	UTSW	8	80,612,505 (GRCm38)	missense	probably benign	0.00
R9723:Frem3	UTSW	8	80,614,723 (GRCm38)	missense	probably benign
R9790:Frem3	UTSW	8	80,613,261 (GRCm38)	missense	probably benign	0.01
R9791:Frem3	UTSW	8	80,613,261 (GRCm38)	missense	probably benign	0.01
RF030:Frem3	UTSW	8	80,615,238 (GRCm38)	small insertion	probably benign
RF034:Frem3	UTSW	8	80,615,238 (GRCm38)	small insertion	probably benign
RF042:Frem3	UTSW	8	80,615,238 (GRCm38)	small insertion	probably benign
X0024:Frem3	UTSW	8	80,613,081 (GRCm38)	missense	possibly damaging	0.76
X0027:Frem3	UTSW	8	80,612,388 (GRCm38)	nonsense	probably null
Z1088:Frem3	UTSW	8	80,615,426 (GRCm38)	missense	probably benign	0.04
Z1176:Frem3	UTSW	8	80,615,431 (GRCm38)	missense	probably benign	0.03
Z1176:Frem3	UTSW	8	80,611,503 (GRCm38)	missense	probably damaging	0.99
Z1177:Frem3	UTSW	8	80,616,129 (GRCm38)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CGCCTATGAACATGATGACTCAG -3'
(R):5'- TTTGAGATCAACAGCCTCTCCC -3'

Sequencing Primer
(F):5'- CCTATGAACATGATGACTCAGAGAGC -3'
(R):5'- GGATATAATGGATAAGGCCTCTGTC -3'

Posted On

2015-04-17