Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Fgfrl1'

160228

Institutional Source

Beutler Lab

Gene Symbol

Fgfrl1

Ensembl Gene

ENSMUSG00000008090

Gene Name

fibroblast growth factor receptor-like 1

Synonyms

FGFR5gamma, fibroblast growth factor receptor 5, FGFR5, FGFR5beta

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108842051-108854816 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 108854147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013633] [ENSMUST00000112560] [ENSMUST00000196222] [ENSMUST00000197255]

AlphaFold

Q91V87

Predicted Effect

unknown
Transcript: ENSMUST00000013633
AA Change: V509E

SMART Domains

Protein: ENSMUSP00000013633
Gene: ENSMUSG00000008090
AA Change: V509E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	38	102	2.64e-12	SMART
low complexity region	117	131	N/A	INTRINSIC
IGc2	159	224	1.35e-18	SMART
IGc2	255	341	6.16e-4	SMART
transmembrane domain	372	394	N/A	INTRINSIC
low complexity region	468	479	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000112560
AA Change: V418E

SMART Domains

Protein: ENSMUSP00000108179
Gene: ENSMUSG00000008090
AA Change: V418E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	26	40	N/A	INTRINSIC
IGc2	68	133	1.35e-18	SMART
IGc2	164	250	6.16e-4	SMART
transmembrane domain	281	303	N/A	INTRINSIC
low complexity region	377	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196222

SMART Domains

Protein: ENSMUSP00000143037
Gene: ENSMUSG00000008090

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	38	102	1.1e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199802

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show neonatal death due to respiratory distress, a malformed diaphragm, and lack of metanephric kidneys. Homozygotes for a different null allele show both fetal and neonatal death, a similar diaphragm defect, as well as cardiac and skeletal defects, and fetal anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,547,511 (GRCm39)	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,147,562 (GRCm39)		probably null	Het
Anks1b	A	G	10: 89,885,891 (GRCm39)	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926 (GRCm39)	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,001,057 (GRCm39)		probably benign	Het
C4b	T	A	17: 34,949,693 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,562,764 (GRCm39)	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822 (GRCm38)	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,600,721 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,480,285 (GRCm39)		probably benign	Het
Chil4	T	A	3: 106,126,825 (GRCm39)		probably null	Het
Cnot11	A	G	1: 39,584,261 (GRCm39)	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,627,069 (GRCm39)	S254P	probably damaging	Het
Dnah11	T	A	12: 118,020,841 (GRCm39)	K87*	probably null	Het
Dpy19l2	T	A	9: 24,492,559 (GRCm39)		probably benign	Het
Dsc1	A	T	18: 20,221,393 (GRCm39)	I694N	probably damaging	Het
Ehd4	A	T	2: 119,958,081 (GRCm39)	I168K	probably benign	Het
Eif4e	A	T	3: 138,252,136 (GRCm39)	N25Y	probably damaging	Het
Elapor2	A	G	5: 9,430,297 (GRCm39)	Y69C	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fhip2a	T	A	19: 57,361,358 (GRCm39)		probably benign	Het
Gm3159	T	A	14: 4,398,586 (GRCm38)	Y92*	probably null	Het
Gm4922	T	A	10: 18,659,496 (GRCm39)	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,691,244 (GRCm39)		probably benign	Het
Grsf1	A	G	5: 88,813,706 (GRCm39)	Y231H	probably benign	Het
Heatr4	T	A	12: 84,014,395 (GRCm39)	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Isg20l2	C	A	3: 87,846,061 (GRCm39)	L325I	probably benign	Het
Kalrn	A	G	16: 34,033,190 (GRCm39)	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,402,485 (GRCm39)	W318L	probably damaging	Het
Kctd1	T	C	18: 15,195,654 (GRCm39)	E323G	possibly damaging	Het
Kif4	G	T	X: 99,732,703 (GRCm39)	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,518,558 (GRCm39)	T151A	unknown	Het
Ldlr	A	T	9: 21,650,838 (GRCm39)	Q449L	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lgals12	C	T	19: 7,581,322 (GRCm39)		probably benign	Het
Lrig3	C	T	10: 125,838,957 (GRCm39)	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,111,876 (GRCm39)	I583L	probably benign	Het
Lyst	T	C	13: 13,915,121 (GRCm39)	S3272P	possibly damaging	Het
Marchf2	T	C	17: 33,915,096 (GRCm39)	H166R	probably damaging	Het
Mtbp	C	A	15: 55,440,933 (GRCm39)	Y373*	probably null	Het
Myh2	C	T	11: 67,076,113 (GRCm39)	H767Y	probably benign	Het
Ncam1	G	A	9: 49,428,889 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,179,658 (GRCm39)	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,269,119 (GRCm39)	Y428H	possibly damaging	Het
Nrros	A	T	16: 31,961,962 (GRCm39)	I649N	probably damaging	Het
Nvl	A	T	1: 180,924,691 (GRCm39)		probably benign	Het
Or5p70	T	A	7: 107,994,708 (GRCm39)	V127E	probably damaging	Het
Pms1	A	T	1: 53,246,435 (GRCm39)	V368E	possibly damaging	Het
Polq	T	A	16: 36,882,857 (GRCm39)	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,850,307 (GRCm39)	V31A	probably damaging	Het
Rev3l	T	A	10: 39,697,579 (GRCm39)	V692E	probably benign	Het
Robo4	T	C	9: 37,319,372 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,532,212 (GRCm39)	I597V	probably damaging	Het
Rtel1	T	A	2: 180,977,658 (GRCm39)		probably null	Het
Scn9a	A	G	2: 66,314,930 (GRCm39)	M1587T	probably benign	Het
Sec31b	T	A	19: 44,512,104 (GRCm39)	I597F	probably benign	Het
Skint5	T	C	4: 113,636,268 (GRCm39)	N650S	unknown	Het
Slc22a28	G	T	19: 8,107,566 (GRCm39)	S167*	probably null	Het
Slfn1	T	A	11: 83,011,968 (GRCm39)	M28K	probably damaging	Het
Smc6	T	C	12: 11,321,880 (GRCm39)		probably benign	Het
Sox8	T	C	17: 25,786,857 (GRCm39)	H282R	probably benign	Het
Spata31e2	G	T	1: 26,724,422 (GRCm39)	Q253K	possibly damaging	Het
Syngr3	C	A	17: 24,905,414 (GRCm39)	V161L	probably benign	Het
Trak1	C	T	9: 121,283,425 (GRCm39)	S397F	probably damaging	Het
Uso1	C	T	5: 92,329,327 (GRCm39)	A405V	probably benign	Het
Uvrag	G	T	7: 98,715,027 (GRCm39)	Y190*	probably null	Het
Vps13d	A	T	4: 144,826,553 (GRCm39)	L1726Q	probably null	Het
Vwf	A	T	6: 125,580,420 (GRCm39)	Q556L	probably benign	Het
Wdr70	T	A	15: 8,065,325 (GRCm39)	M246L	probably benign	Het
Yipf3	T	C	17: 46,562,372 (GRCm39)	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,476,621 (GRCm39)	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,354,608 (GRCm39)	F125L	probably benign	Het

Other mutations in Fgfrl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Fgfrl1	APN	5	108,853,753 (GRCm39)	missense	probably damaging	1.00
IGL00756:Fgfrl1	APN	5	108,853,819 (GRCm39)	missense	possibly damaging	0.91
IGL02641:Fgfrl1	APN	5	108,853,731 (GRCm39)	missense	probably damaging	1.00
R0725:Fgfrl1	UTSW	5	108,852,539 (GRCm39)	missense	probably damaging	0.99
R1967:Fgfrl1	UTSW	5	108,852,871 (GRCm39)	missense	probably damaging	1.00
R2403:Fgfrl1	UTSW	5	108,852,897 (GRCm39)	missense	probably damaging	1.00
R3032:Fgfrl1	UTSW	5	108,853,926 (GRCm39)	missense	probably benign	0.13
R3605:Fgfrl1	UTSW	5	108,853,289 (GRCm39)	missense	probably damaging	0.96
R3606:Fgfrl1	UTSW	5	108,853,289 (GRCm39)	missense	probably damaging	0.96
R3607:Fgfrl1	UTSW	5	108,853,289 (GRCm39)	missense	probably damaging	0.96
R3767:Fgfrl1	UTSW	5	108,853,242 (GRCm39)	missense	possibly damaging	0.78
R4603:Fgfrl1	UTSW	5	108,851,401 (GRCm39)	missense	probably damaging	1.00
R4798:Fgfrl1	UTSW	5	108,851,363 (GRCm39)	nonsense	probably null
R5600:Fgfrl1	UTSW	5	108,853,168 (GRCm39)	missense	probably damaging	1.00
R6349:Fgfrl1	UTSW	5	108,853,372 (GRCm39)	missense	probably damaging	1.00
R6679:Fgfrl1	UTSW	5	108,852,839 (GRCm39)	missense	probably damaging	1.00
R6679:Fgfrl1	UTSW	5	108,852,838 (GRCm39)	nonsense	probably null
R7247:Fgfrl1	UTSW	5	108,851,365 (GRCm39)	missense	possibly damaging	0.91
R7608:Fgfrl1	UTSW	5	108,853,211 (GRCm39)	missense	probably damaging	1.00
R7947:Fgfrl1	UTSW	5	108,853,142 (GRCm39)	missense	probably damaging	0.96
R8933:Fgfrl1	UTSW	5	108,851,257 (GRCm39)	missense	probably damaging	0.96
R9039:Fgfrl1	UTSW	5	108,853,439 (GRCm39)	critical splice donor site	probably null
R9661:Fgfrl1	UTSW	5	108,853,841 (GRCm39)	missense	probably benign
X0018:Fgfrl1	UTSW	5	108,852,840 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGAAGAAGCCATGTGCCCCAG -3'
(R):5'- GGGAGATTCCTTCAACTAGCCATCG -3'

Sequencing Primer
(F):5'- AAGGACCTGCCCTCATTGG -3'
(R):5'- GCTACATGTCACTGCAAAGTC -3'

Posted On

2014-03-14