Mutagenetix > Incidental Mutation

Incidental Mutation 'R1668:Appl1'

187399

Institutional Source

Beutler Lab

Gene Symbol

Appl1

Ensembl Gene

ENSMUSG00000040760

Gene Name

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1

Synonyms

7330406P05Rik, 2900057D21Rik

MMRRC Submission

039704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R1668 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26640943-26692567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 26645811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 666 (S666R)

Ref Sequence

ENSEMBL: ENSMUSP00000042875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036570]

AlphaFold

Q8K3H0

Predicted Effect

probably damaging
Transcript: ENSMUST00000036570
AA Change: S666R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760
AA Change: S666R

Domain	Start	End	E-Value	Type
Pfam:BAR_3	7	249	2.6e-66	PFAM
PH	278	377	1.4e-3	SMART
low complexity region	425	434	N/A	INTRINSIC
Pfam:PID	501	632	6.6e-12	PFAM
low complexity region	645	660	N/A	INTRINSIC
low complexity region	679	700	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223843

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra2c	T	C	5: 35,437,641 (GRCm39)	S138P	probably damaging	Het
Arhgap45	A	G	10: 79,864,584 (GRCm39)	S879G	possibly damaging	Het
Calcoco2	T	C	11: 95,993,563 (GRCm39)	M140V	probably benign	Het
Cap2	C	A	13: 46,768,799 (GRCm39)	H147N	probably damaging	Het
Chd9	A	T	8: 91,767,814 (GRCm39)	H2437L	probably damaging	Het
Col5a3	A	G	9: 20,682,392 (GRCm39)	I1684T	unknown	Het
Comp	A	T	8: 70,831,607 (GRCm39)		probably null	Het
Cyp2c50	A	T	19: 40,079,499 (GRCm39)	M198L	probably benign	Het
Dnaaf2	A	G	12: 69,243,465 (GRCm39)	V532A	probably benign	Het
Dnah10	A	T	5: 124,842,626 (GRCm39)	Q1358L	probably benign	Het
Dop1b	T	A	16: 93,562,404 (GRCm39)	S832T	probably damaging	Het
Dus3l	T	G	17: 57,073,912 (GRCm39)	F162C	possibly damaging	Het
Epb41l4a	A	G	18: 34,054,962 (GRCm39)	L42P	probably damaging	Het
Ercc5	T	A	1: 44,206,193 (GRCm39)	S369T	probably benign	Het
Fbxl2	C	T	9: 113,818,214 (GRCm39)	V211M	probably benign	Het
Fermt3	A	G	19: 6,996,060 (GRCm39)	V45A	probably damaging	Het
Frs3	C	A	17: 48,014,147 (GRCm39)	P280Q	possibly damaging	Het
Fxn	A	G	19: 24,239,377 (GRCm39)	Y172H	probably damaging	Het
Gabpa	T	C	16: 84,643,069 (GRCm39)	V122A	probably damaging	Het
Gsta4	A	G	9: 78,111,570 (GRCm39)	T66A	probably benign	Het
Hsdl2	C	T	4: 59,612,697 (GRCm39)	T296M	probably damaging	Het
Kank4	T	C	4: 98,667,133 (GRCm39)	N438S	probably damaging	Het
Krt24	A	G	11: 99,175,444 (GRCm39)	I197T	probably benign	Het
Lct	T	C	1: 128,215,459 (GRCm39)		probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mc4r	A	G	18: 66,992,480 (GRCm39)	L211P	probably damaging	Het
Mfsd4b5	T	C	10: 39,849,687 (GRCm39)	T111A	probably damaging	Het
Mgat5b	T	A	11: 116,874,474 (GRCm39)	N635K	probably benign	Het
Mms19	A	T	19: 41,940,995 (GRCm39)	M443K	possibly damaging	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Mroh5	T	C	15: 73,659,754 (GRCm39)	N359S	probably benign	Het
Mroh9	T	C	1: 162,852,161 (GRCm39)	I843V	possibly damaging	Het
Nbeal2	T	C	9: 110,467,961 (GRCm39)	D436G	probably damaging	Het
Nbr1	A	G	11: 101,460,592 (GRCm39)	D502G	probably benign	Het
Ngfr	C	T	11: 95,478,371 (GRCm39)	G5D	probably damaging	Het
Nlrc4	G	A	17: 74,752,901 (GRCm39)	T494M	probably damaging	Het
Notch3	T	A	17: 32,377,563 (GRCm39)	H171L	probably damaging	Het
Nsmaf	A	G	4: 6,398,880 (GRCm39)	L795P	probably damaging	Het
Nup210	T	C	6: 91,005,787 (GRCm39)	T616A	possibly damaging	Het
Or10d5	C	A	9: 39,861,465 (GRCm39)	V201L	possibly damaging	Het
Or1j18	T	A	2: 36,625,204 (GRCm39)	Y290*	probably null	Het
Or5ak25	T	A	2: 85,269,220 (GRCm39)	Y94F	probably benign	Het
Or5b113	A	C	19: 13,342,234 (GRCm39)	M81L	probably benign	Het
Osbpl5	T	C	7: 143,262,776 (GRCm39)	H192R	probably damaging	Het
Parp2	G	A	14: 51,058,313 (GRCm39)	R486Q	probably benign	Het
Pcgf6	G	A	19: 47,028,544 (GRCm39)	A286V	probably damaging	Het
Pla2r1	T	C	2: 60,258,990 (GRCm39)	T1133A	probably damaging	Het
Plekha2	T	C	8: 25,562,070 (GRCm39)	N48S	probably damaging	Het
Pole	T	G	5: 110,445,235 (GRCm39)	S461A	probably damaging	Het
Ppfibp2	T	C	7: 107,329,099 (GRCm39)	L536P	probably damaging	Het
Prkcz	G	T	4: 155,374,208 (GRCm39)	F69L	probably damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Rab23	A	T	1: 33,773,935 (GRCm39)	K132*	probably null	Het
Rbck1	T	A	2: 152,158,819 (GRCm39)	S488C	probably damaging	Het
Rbl1	T	C	2: 157,001,654 (GRCm39)	Y878C	probably damaging	Het
Rpn2	C	T	2: 157,136,075 (GRCm39)	T161M	possibly damaging	Het
Rufy4	G	A	1: 74,186,837 (GRCm39)	V542I	probably benign	Het
Serpinb3d	A	G	1: 107,008,481 (GRCm39)	V128A	probably benign	Het
Smarca2	A	G	19: 26,624,434 (GRCm39)	I365V	possibly damaging	Het
Spata31f1a	G	T	4: 42,848,424 (GRCm39)	T1244K	probably damaging	Het
Sptb	A	G	12: 76,667,943 (GRCm39)	V718A	probably benign	Het
Susd4	A	G	1: 182,686,128 (GRCm39)	H226R	probably benign	Het
Tmem151b	T	C	17: 45,856,831 (GRCm39)	Y203C	probably damaging	Het
Tmppe	T	C	9: 114,233,968 (GRCm39)	V89A	possibly damaging	Het
Trappc6b	A	T	12: 59,094,907 (GRCm39)		probably null	Het
Ube4b	A	T	4: 149,445,751 (GRCm39)	M433K	probably benign	Het
Vmn1r202	A	T	13: 22,685,540 (GRCm39)	D292E	possibly damaging	Het
Vmn1r22	A	G	6: 57,877,704 (GRCm39)	M91T	probably benign	Het
Vmn1r43	T	C	6: 89,846,683 (GRCm39)	I268V	probably benign	Het
Vmn1r49	T	A	6: 90,049,764 (GRCm39)	R79S	probably benign	Het
Vmn2r14	T	A	5: 109,366,913 (GRCm39)	K436*	probably null	Het
Wdr72	A	G	9: 74,117,444 (GRCm39)	S719G	probably damaging	Het
Zfp526	T	C	7: 24,924,967 (GRCm39)	F409L	probably benign	Het
Zfp804b	A	C	5: 6,821,323 (GRCm39)	L580R	possibly damaging	Het
Zfp977	T	C	7: 42,230,070 (GRCm39)	T152A	probably benign	Het
Zyx	T	A	6: 42,332,966 (GRCm39)	V372E	possibly damaging	Het

Other mutations in Appl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Appl1	APN	14	26,671,433 (GRCm39)	missense	possibly damaging	0.89
IGL01615:Appl1	APN	14	26,681,427 (GRCm39)	splice site	probably benign
IGL01633:Appl1	APN	14	26,684,795 (GRCm39)	missense	probably damaging	0.99
IGL01945:Appl1	APN	14	26,650,612 (GRCm39)	missense	possibly damaging	0.80
IGL02210:Appl1	APN	14	26,647,909 (GRCm39)	splice site	probably benign
IGL02650:Appl1	APN	14	26,672,665 (GRCm39)	missense	possibly damaging	0.76
IGL02674:Appl1	APN	14	26,671,418 (GRCm39)	missense	possibly damaging	0.86
IGL02803:Appl1	APN	14	26,673,473 (GRCm39)	missense	possibly damaging	0.93
R0129:Appl1	UTSW	14	26,650,600 (GRCm39)	missense	probably damaging	1.00
R0183:Appl1	UTSW	14	26,684,811 (GRCm39)	missense	probably damaging	1.00
R0323:Appl1	UTSW	14	26,664,695 (GRCm39)	missense	possibly damaging	0.91
R0411:Appl1	UTSW	14	26,662,213 (GRCm39)	missense	probably benign
R1213:Appl1	UTSW	14	26,665,950 (GRCm39)	missense	probably benign	0.27
R1277:Appl1	UTSW	14	26,649,813 (GRCm39)	missense	possibly damaging	0.87
R1856:Appl1	UTSW	14	26,649,706 (GRCm39)	missense	probably damaging	1.00
R1889:Appl1	UTSW	14	26,647,470 (GRCm39)	splice site	probably benign
R2145:Appl1	UTSW	14	26,671,576 (GRCm39)	missense	possibly damaging	0.66
R3720:Appl1	UTSW	14	26,649,801 (GRCm39)	missense	probably damaging	1.00
R3722:Appl1	UTSW	14	26,649,801 (GRCm39)	missense	probably damaging	1.00
R3917:Appl1	UTSW	14	26,650,561 (GRCm39)	missense	probably damaging	1.00
R4700:Appl1	UTSW	14	26,647,928 (GRCm39)	missense	probably benign	0.00
R5139:Appl1	UTSW	14	26,669,112 (GRCm39)	missense	probably benign	0.04
R5485:Appl1	UTSW	14	26,684,823 (GRCm39)	missense	probably damaging	1.00
R5536:Appl1	UTSW	14	26,645,737 (GRCm39)	nonsense	probably null
R5795:Appl1	UTSW	14	26,664,773 (GRCm39)	missense	probably benign	0.01
R7044:Appl1	UTSW	14	26,650,634 (GRCm39)	missense	possibly damaging	0.90
R7318:Appl1	UTSW	14	26,685,617 (GRCm39)	missense	probably benign	0.01
R7447:Appl1	UTSW	14	26,681,409 (GRCm39)	nonsense	probably null
R7943:Appl1	UTSW	14	26,667,525 (GRCm39)	missense	probably benign	0.01
R8110:Appl1	UTSW	14	26,649,751 (GRCm39)	nonsense	probably null
R8129:Appl1	UTSW	14	26,671,466 (GRCm39)	missense	possibly damaging	0.87
R8160:Appl1	UTSW	14	26,650,592 (GRCm39)	missense	probably benign	0.35
R8211:Appl1	UTSW	14	26,667,555 (GRCm39)	missense	probably benign	0.18
R8239:Appl1	UTSW	14	26,686,914 (GRCm39)	missense	probably damaging	0.99
R8379:Appl1	UTSW	14	26,647,372 (GRCm39)	critical splice donor site	probably null
R8464:Appl1	UTSW	14	26,674,985 (GRCm39)	nonsense	probably null
R8699:Appl1	UTSW	14	26,662,212 (GRCm39)	missense	probably benign
R9023:Appl1	UTSW	14	26,685,652 (GRCm39)	missense	possibly damaging	0.93
R9090:Appl1	UTSW	14	26,669,084 (GRCm39)	missense	probably benign	0.01
R9203:Appl1	UTSW	14	26,682,970 (GRCm39)	nonsense	probably null
R9227:Appl1	UTSW	14	26,645,692 (GRCm39)	missense	unknown
R9230:Appl1	UTSW	14	26,645,692 (GRCm39)	missense	unknown
R9243:Appl1	UTSW	14	26,649,710 (GRCm39)	missense	possibly damaging	0.62
R9271:Appl1	UTSW	14	26,669,084 (GRCm39)	missense	probably benign	0.01
R9378:Appl1	UTSW	14	26,649,784 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGAGACAGCCAATTACAGTGCAAG -3'
(R):5'- CTCAGTTATTAGCCACAAAAGGAGGGG -3'

Sequencing Primer
(F):5'- CATGATCTTCAGCATGGATACGC -3'
(R):5'- GGTGCCAAAATTCATGCTGG -3'

Posted On

2014-05-09