Mutagenetix > Incidental Mutation

Incidental Mutation 'R6661:Fmnl2'

526826

Institutional Source

Beutler Lab

Gene Symbol

Fmnl2

Ensembl Gene

ENSMUSG00000036053

Gene Name

formin-like 2

Synonyms

man, 5430425K04Rik

MMRRC Submission

044781-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6661 (G1)

Quality Score

100.008

Status

Not validated

Chromosome

Chromosomal Location

52747872-53023816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 52998297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 554 (P554Q)

Ref Sequence

ENSEMBL: ENSMUSP00000118658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049483] [ENSMUST00000050719] [ENSMUST00000090952] [ENSMUST00000127122] [ENSMUST00000155586]

AlphaFold

A2APV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000049483
AA Change: P554Q

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

SMART Domains

Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: P554Q

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	8e-3	SMART
FH2	615	1052	1.66e-124	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050719
AA Change: P554Q

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: P554Q

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
low complexity region	549	568	N/A	INTRINSIC
FH2	581	1018	1.66e-124	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000090952
AA Change: P554Q

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

SMART Domains

Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: P554Q

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	6e-3	SMART
FH2	615	1052	1.66e-124	SMART
low complexity region	1063	1075	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000127122
AA Change: P554Q

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

SMART Domains

Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: P554Q

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	7e-3	SMART
FH2	615	1052	1.66e-124	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000155586
AA Change: P554Q

SMART Domains

Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: P554Q

Domain	Start	End	E-Value	Type
Pfam:FH2	1	131	2e-33	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.8%

Validation Efficiency

93% (38/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amy2a1	T	C	3: 113,325,363 (GRCm39)	Y77C	probably damaging	Het
Ankrd9	C	A	12: 110,944,202 (GRCm39)		probably benign	Het
Arhgap28	C	A	17: 68,152,746 (GRCm39)	W675L	probably damaging	Het
Arhgap44	A	G	11: 64,900,834 (GRCm39)	S595P	probably damaging	Het
Brd10	A	T	19: 29,700,864 (GRCm39)	H741Q	possibly damaging	Het
Cacna1d	C	A	14: 29,811,832 (GRCm39)	D1273Y	probably damaging	Het
Ccr4	T	C	9: 114,325,031 (GRCm39)		probably benign	Het
Celsr1	A	G	15: 85,803,135 (GRCm39)	V2468A	probably damaging	Het
Chd2	T	C	7: 73,140,230 (GRCm39)	E666G	possibly damaging	Het
Ctnnd1	C	A	2: 84,439,986 (GRCm39)	V775L	probably damaging	Het
Cux2	C	A	5: 122,007,360 (GRCm39)	R767L	probably benign	Het
Decr2	A	G	17: 26,302,561 (GRCm39)	L217S	possibly damaging	Het
Dennd4c	T	A	4: 86,717,626 (GRCm39)	M541K	possibly damaging	Het
Dnah7a	T	C	1: 53,662,609 (GRCm39)	R651G	probably benign	Het
Fbrsl1	A	T	5: 110,525,963 (GRCm39)	F80I	probably damaging	Het
Gapvd1	C	T	2: 34,618,450 (GRCm39)	D308N	probably damaging	Het
Gatb	A	G	3: 85,559,726 (GRCm39)		probably null	Het
Jcad	G	A	18: 4,675,256 (GRCm39)	G1006D	probably damaging	Het
Krt1c	A	G	15: 101,724,398 (GRCm39)	Y289H	probably damaging	Het
Lrrc52	A	G	1: 167,293,922 (GRCm39)	F121S	probably damaging	Het
Lrrc63	G	A	14: 75,362,633 (GRCm39)	T299I	unknown	Het
Magi1	T	C	6: 93,920,289 (GRCm39)	N109S	probably benign	Het
Mbd4	C	A	6: 115,826,116 (GRCm39)	E271*	probably null	Het
Meis2	T	A	2: 115,694,751 (GRCm39)	D457V	probably damaging	Het
Mroh8	A	G	2: 157,067,547 (GRCm39)	V604A	probably benign	Het
Nedd4	T	A	9: 72,593,377 (GRCm39)	V150E	probably damaging	Het
Nes	A	G	3: 87,884,243 (GRCm39)	E790G	probably damaging	Het
Or8h8	T	C	2: 86,753,492 (GRCm39)	N128S	probably benign	Het
Pik3c2a	T	C	7: 115,967,993 (GRCm39)	I834V	possibly damaging	Het
Plxnb1	T	C	9: 108,933,367 (GRCm39)	C666R	possibly damaging	Het
Prg2	T	C	2: 84,813,620 (GRCm39)		probably null	Het
Selenbp2	A	G	3: 94,609,821 (GRCm39)	D257G	probably damaging	Het
Slf1	T	C	13: 77,191,964 (GRCm39)	R957G	probably damaging	Het
Smim10l1	T	A	6: 133,082,513 (GRCm39)	M46K	possibly damaging	Het
Sptbn5	T	C	2: 119,902,856 (GRCm39)	Y50C	possibly damaging	Het
Tcea1	A	G	1: 4,928,652 (GRCm39)		probably benign	Het
Tex14	A	G	11: 87,385,842 (GRCm39)	E234G	probably damaging	Het
Tmbim4	T	C	10: 120,060,556 (GRCm39)	V181A	probably benign	Het
Trappc9	A	G	15: 72,461,993 (GRCm39)	S1091P	possibly damaging	Het
Txnrd3	T	A	6: 89,631,134 (GRCm39)	C143*	probably null	Het
Ushbp1	C	T	8: 71,843,305 (GRCm39)	C314Y	unknown	Het

Other mutations in Fmnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Fmnl2	APN	2	53,004,929 (GRCm39)	missense	probably damaging	1.00
IGL00960:Fmnl2	APN	2	53,013,494 (GRCm39)	missense	probably damaging	0.98
IGL01343:Fmnl2	APN	2	53,013,557 (GRCm39)	missense	probably damaging	1.00
IGL01790:Fmnl2	APN	2	53,008,380 (GRCm39)	missense	probably damaging	1.00
IGL02555:Fmnl2	APN	2	53,016,863 (GRCm39)	critical splice acceptor site	probably null
IGL02613:Fmnl2	APN	2	52,963,747 (GRCm39)	critical splice donor site	probably null
IGL02712:Fmnl2	APN	2	52,926,510 (GRCm39)	splice site	probably benign
IGL02715:Fmnl2	APN	2	52,962,222 (GRCm39)	missense	possibly damaging	0.93
IGL02750:Fmnl2	APN	2	52,993,709 (GRCm39)	missense	possibly damaging	0.95
IGL02832:Fmnl2	APN	2	52,748,261 (GRCm39)	missense	possibly damaging	0.90
IGL02975:Fmnl2	APN	2	52,991,494 (GRCm39)	missense	probably benign	0.45
Beefeater	UTSW	2	52,963,666 (GRCm39)	missense	unknown
waterloo	UTSW	2	52,904,860 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Fmnl2	UTSW	2	53,008,208 (GRCm39)	missense	unknown
R0529:Fmnl2	UTSW	2	52,932,377 (GRCm39)	missense	probably damaging	1.00
R0571:Fmnl2	UTSW	2	52,944,503 (GRCm39)	missense	probably benign	0.01
R0707:Fmnl2	UTSW	2	52,944,498 (GRCm39)	missense	possibly damaging	0.85
R1172:Fmnl2	UTSW	2	52,962,286 (GRCm39)	missense	probably damaging	1.00
R1473:Fmnl2	UTSW	2	52,748,219 (GRCm39)	missense	possibly damaging	0.53
R1533:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1536:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1537:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1547:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1548:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1549:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1604:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1608:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1615:Fmnl2	UTSW	2	53,008,436 (GRCm39)	missense	probably damaging	1.00
R1792:Fmnl2	UTSW	2	52,932,329 (GRCm39)	missense	possibly damaging	0.79
R1965:Fmnl2	UTSW	2	53,004,880 (GRCm39)	missense	probably damaging	1.00
R1970:Fmnl2	UTSW	2	52,995,588 (GRCm39)	missense	possibly damaging	0.93
R2012:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2065:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2111:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2112:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2427:Fmnl2	UTSW	2	53,006,991 (GRCm39)	missense	probably damaging	0.96
R4084:Fmnl2	UTSW	2	52,997,507 (GRCm39)	missense	possibly damaging	0.96
R4095:Fmnl2	UTSW	2	52,991,535 (GRCm39)	missense	probably damaging	0.99
R4607:Fmnl2	UTSW	2	52,993,728 (GRCm39)	missense	possibly damaging	0.94
R4608:Fmnl2	UTSW	2	52,993,728 (GRCm39)	missense	possibly damaging	0.94
R4720:Fmnl2	UTSW	2	52,997,552 (GRCm39)	missense	possibly damaging	0.96
R4731:Fmnl2	UTSW	2	53,007,081 (GRCm39)	missense	possibly damaging	0.95
R4947:Fmnl2	UTSW	2	52,963,722 (GRCm39)	missense	probably benign	0.32
R5015:Fmnl2	UTSW	2	52,993,773 (GRCm39)	missense	possibly damaging	0.85
R5402:Fmnl2	UTSW	2	53,018,794 (GRCm39)	missense	probably damaging	0.97
R5731:Fmnl2	UTSW	2	53,008,149 (GRCm39)	splice site	probably null
R5766:Fmnl2	UTSW	2	52,991,466 (GRCm39)	missense	probably damaging	1.00
R5945:Fmnl2	UTSW	2	53,004,211 (GRCm39)	missense	probably damaging	0.99
R6093:Fmnl2	UTSW	2	53,004,880 (GRCm39)	missense	probably damaging	1.00
R6210:Fmnl2	UTSW	2	53,020,457 (GRCm39)	missense	possibly damaging	0.94
R6287:Fmnl2	UTSW	2	52,904,860 (GRCm39)	missense	probably damaging	1.00
R6967:Fmnl2	UTSW	2	52,987,344 (GRCm39)	missense	possibly damaging	0.88
R7006:Fmnl2	UTSW	2	52,998,266 (GRCm39)	missense	probably benign	0.27
R7146:Fmnl2	UTSW	2	52,958,552 (GRCm39)	missense
R7173:Fmnl2	UTSW	2	53,004,202 (GRCm39)	missense	unknown
R7176:Fmnl2	UTSW	2	53,004,162 (GRCm39)	missense	unknown
R7182:Fmnl2	UTSW	2	52,997,453 (GRCm39)	missense	unknown
R7201:Fmnl2	UTSW	2	52,963,666 (GRCm39)	missense	unknown
R7470:Fmnl2	UTSW	2	52,932,377 (GRCm39)	missense	probably damaging	1.00
R7481:Fmnl2	UTSW	2	52,998,443 (GRCm39)	missense	unknown
R7691:Fmnl2	UTSW	2	52,991,510 (GRCm39)	missense	unknown
R7699:Fmnl2	UTSW	2	52,926,520 (GRCm39)	missense
R7700:Fmnl2	UTSW	2	52,926,520 (GRCm39)	missense
R7722:Fmnl2	UTSW	2	52,944,479 (GRCm39)	missense
R7775:Fmnl2	UTSW	2	52,963,692 (GRCm39)	missense	unknown
R7824:Fmnl2	UTSW	2	52,963,692 (GRCm39)	missense	unknown
R8282:Fmnl2	UTSW	2	52,997,678 (GRCm39)	critical splice donor site	probably null
R8774:Fmnl2	UTSW	2	52,932,321 (GRCm39)	missense
R8774-TAIL:Fmnl2	UTSW	2	52,932,321 (GRCm39)	missense
R8816:Fmnl2	UTSW	2	53,004,214 (GRCm39)	missense	unknown
R8832:Fmnl2	UTSW	2	52,944,584 (GRCm39)	missense
R8868:Fmnl2	UTSW	2	53,016,077 (GRCm39)	missense	unknown
R8990:Fmnl2	UTSW	2	53,016,971 (GRCm39)	missense	unknown
R9412:Fmnl2	UTSW	2	53,007,016 (GRCm39)	missense	unknown
R9502:Fmnl2	UTSW	2	52,998,312 (GRCm39)	missense	unknown
R9532:Fmnl2	UTSW	2	53,006,941 (GRCm39)	missense	unknown
R9602:Fmnl2	UTSW	2	53,013,587 (GRCm39)	critical splice donor site	probably null
R9760:Fmnl2	UTSW	2	52,944,527 (GRCm39)	missense
Z1188:Fmnl2	UTSW	2	53,004,883 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGAAATGCTACCCTTGTGATTTTG -3'
(R):5'- CTCACCTGCTAATCCTGAGTTG -3'

Sequencing Primer
(F):5'- ATACCGCAGTATGCTTGTCG -3'
(R):5'- TCCTGAGTTGAAAACCACTGTAGGTG -3'

Posted On

2018-07-23