Mutagenetix > Incidental Mutation

Incidental Mutation 'R5471:Fgfr1op2'

433807

Institutional Source

Beutler Lab

Gene Symbol

Fgfr1op2

Ensembl Gene

ENSMUSG00000040242

Gene Name

FGFR1 oncogene partner 2

Synonyms

1500031J01Rik

MMRRC Submission

043032-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R5471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146479401-146500696 bp(+) (GRCm39)

Type of Mutation

splice site (4497 bp from exon)

DNA Base Change (assembly)

A to T at 146498860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037709] [ENSMUST00000037836] [ENSMUST00000058245] [ENSMUST00000067404] [ENSMUST00000111663]

AlphaFold

Q9CRA9

Predicted Effect

probably benign
Transcript: ENSMUST00000037709

SMART Domains

Protein: ENSMUSP00000045650
Gene: ENSMUSG00000040234

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DUF4203	291	498	8.5e-42	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000037836

SMART Domains

Protein: ENSMUSP00000037316
Gene: ENSMUSG00000040242

Domain	Start	End	E-Value	Type
Pfam:DUF837	1	142	4e-59	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000058245

SMART Domains

Protein: ENSMUSP00000107289
Gene: ENSMUSG00000040242

Domain	Start	End	E-Value	Type
Pfam:DUF837	1	142	4e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000067404
AA Change: D193V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098352
Gene: ENSMUSG00000040242
AA Change: D193V

Domain	Start	End	E-Value	Type
Pfam:DUF837	1	185	8.6e-80	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111663
AA Change: D231V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107292
Gene: ENSMUSG00000040242
AA Change: D231V

Domain	Start	End	E-Value	Type
Pfam:DUF837	2	221	2e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160697

Meta Mutation Damage Score

0.1366

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.5%

Validation Efficiency

96% (67/70)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	C	T	7: 119,259,829 (GRCm39)	H493Y	probably damaging	Het
Alox12e	T	C	11: 70,210,850 (GRCm39)	I290V	probably benign	Het
Ankfy1	T	A	11: 72,619,617 (GRCm39)	N163K	probably benign	Het
Baiap2l1	T	G	5: 144,218,951 (GRCm39)	N219T	probably benign	Het
Cd72	T	C	4: 43,448,345 (GRCm39)	I312V	probably benign	Het
Cfap54	A	T	10: 92,864,522 (GRCm39)	M139K	probably damaging	Het
Clec4n	T	A	6: 123,209,145 (GRCm39)	M70K	probably benign	Het
Cmklr2	A	C	1: 63,223,058 (GRCm39)	V59G	probably damaging	Het
Cwh43	T	A	5: 73,565,574 (GRCm39)	C46*	probably null	Het
Cyp1a2	A	T	9: 57,586,303 (GRCm39)	I405N	probably damaging	Het
Dlc1	G	T	8: 37,051,879 (GRCm39)	S617R	probably benign	Het
Eif2ak4	A	G	2: 118,304,613 (GRCm39)	N1546S	probably benign	Het
Elmo1	A	G	13: 20,756,555 (GRCm39)	I548V	probably benign	Het
Exoc6	A	G	19: 37,588,065 (GRCm39)	D566G	probably benign	Het
Fam20b	T	C	1: 156,533,299 (GRCm39)	T106A	probably damaging	Het
Fam83h	T	C	15: 75,874,752 (GRCm39)	T862A	probably benign	Het
Gcnt2	A	G	13: 41,014,195 (GRCm39)	Y122C	probably damaging	Het
Gm11992	A	T	11: 9,018,333 (GRCm39)		probably null	Het
Gm5114	C	A	7: 39,058,534 (GRCm39)	E362*	probably null	Het
Gm815	A	G	19: 26,865,769 (GRCm39)	T96A	unknown	Het
Gm8674	A	G	13: 50,054,849 (GRCm39)		noncoding transcript	Het
Gnat3	T	A	5: 18,196,322 (GRCm39)	I56N	probably damaging	Het
Igkv1-133	T	C	6: 67,702,531 (GRCm39)	V83A	probably benign	Het
Mrgprb8	T	A	7: 48,038,471 (GRCm39)	N47K	probably damaging	Het
Nav2	A	G	7: 49,197,917 (GRCm39)	D1182G	probably damaging	Het
Neto2	T	C	8: 86,367,389 (GRCm39)	T480A	probably benign	Het
Npnt	T	G	3: 132,620,148 (GRCm39)	N115T	probably benign	Het
Nr1h5	T	C	3: 102,856,442 (GRCm39)	N279S	possibly damaging	Het
Ntrk2	T	C	13: 59,019,574 (GRCm39)	V395A	probably benign	Het
Or2ak6	T	C	11: 58,593,151 (GRCm39)	L208S	probably damaging	Het
Or5ac23	T	G	16: 59,148,994 (GRCm39)	N293H	probably damaging	Het
Or6c1	A	G	10: 129,517,925 (GRCm39)	S228P	probably damaging	Het
Padi2	A	G	4: 140,660,519 (GRCm39)	K333R	possibly damaging	Het
Pira1	T	A	7: 3,738,514 (GRCm39)	I621F	probably benign	Het
Ptgis	C	A	2: 167,066,039 (GRCm39)	M130I	probably benign	Het
Ptpn4	A	T	1: 119,693,649 (GRCm39)	Y124*	probably null	Het
Saal1	C	T	7: 46,349,072 (GRCm39)	V281M	probably benign	Het
Saxo1	G	A	4: 86,363,961 (GRCm39)	T174I	probably damaging	Het
Slc7a12	G	A	3: 14,545,935 (GRCm39)	V27M	probably damaging	Het
Slco4c1	C	A	1: 96,799,770 (GRCm39)	R22L	probably benign	Het
Slfn9	T	G	11: 82,873,613 (GRCm39)	Q430P	possibly damaging	Het
Slit2	T	A	5: 48,346,897 (GRCm39)	N246K	probably damaging	Het
Stox2	G	T	8: 47,646,548 (GRCm39)	T304K	probably damaging	Het
Tmem87b	T	G	2: 128,693,240 (GRCm39)	F542V	possibly damaging	Het
Topaz1	T	G	9: 122,620,481 (GRCm39)		probably null	Het
Trappc12	G	A	12: 28,741,499 (GRCm39)	R737W	probably damaging	Het
Trim9	A	G	12: 70,393,566 (GRCm39)	I126T	possibly damaging	Het
Txnl1	A	G	18: 63,809,997 (GRCm39)	C149R	probably damaging	Het
Ubald1	G	A	16: 4,693,705 (GRCm39)	T70M	probably damaging	Het
Vash1	G	A	12: 86,735,902 (GRCm39)	V263M	possibly damaging	Het
Vsx1	T	C	2: 150,524,986 (GRCm39)	T343A	probably benign	Het
Zfp397	A	G	18: 24,093,081 (GRCm39)	N189D	probably benign	Het

Other mutations in Fgfr1op2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02591:Fgfr1op2	APN	6	146,490,344 (GRCm39)	missense	probably damaging	0.97
IGL02626:Fgfr1op2	APN	6	146,491,509 (GRCm39)	missense	probably benign	0.37
IGL03081:Fgfr1op2	APN	6	146,498,817 (GRCm39)	missense	probably damaging	0.98
R1381:Fgfr1op2	UTSW	6	146,490,239 (GRCm39)	missense	probably damaging	1.00
R3740:Fgfr1op2	UTSW	6	146,496,731 (GRCm39)	missense	possibly damaging	0.94
R3934:Fgfr1op2	UTSW	6	146,496,669 (GRCm39)	splice site	probably benign
R6842:Fgfr1op2	UTSW	6	146,491,536 (GRCm39)	critical splice donor site	probably null
R6988:Fgfr1op2	UTSW	6	146,491,463 (GRCm39)	missense	probably damaging	0.99
R9201:Fgfr1op2	UTSW	6	146,494,217 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGCCACACTTCATAAAATTGGC -3'
(R):5'- TGGTTATACATTCTGCTGCCG -3'

Sequencing Primer
(F):5'- CAGCCAAACCAGCAGTTT -3'
(R):5'- TTTGCCAGTGTCCCTGTACATAC -3'

Posted On

2016-10-06