Mutagenetix > Incidental Mutation

Incidental Mutation 'R5235:Arfrp1'

398273

Institutional Source

Beutler Lab

Gene Symbol

Arfrp1

Ensembl Gene

ENSMUSG00000038671

Gene Name

ADP-ribosylation factor related protein 1

Synonyms

1500006I01Rik

MMRRC Submission

042807-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5235 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180999483-181007197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181001298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 145 (H145R)

Ref Sequence

ENSEMBL: ENSMUSP00000126387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048608] [ENSMUST00000054622] [ENSMUST00000098971] [ENSMUST00000108808] [ENSMUST00000108814] [ENSMUST00000108815] [ENSMUST00000127988] [ENSMUST00000148252] [ENSMUST00000170190] [ENSMUST00000183499] [ENSMUST00000185118]

AlphaFold

Q8BXL7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000048269

Predicted Effect

probably benign
Transcript: ENSMUST00000048608

SMART Domains

Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054622

SMART Domains

Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1075	1092	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098971

SMART Domains

Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1036	1053	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108808
AA Change: H192R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104436
Gene: ENSMUSG00000038671
AA Change: H192R

Domain	Start	End	E-Value	Type
ARF	1	191	1.71e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108814

SMART Domains

Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1069	1086	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108815

SMART Domains

Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1030	1047	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130346

Predicted Effect

probably benign
Transcript: ENSMUST00000127988
AA Change: H192R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122066
Gene: ENSMUSG00000038671
AA Change: H192R

Domain	Start	End	E-Value	Type
ARF	1	191	1.71e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147266

Predicted Effect

probably benign
Transcript: ENSMUST00000134651

Predicted Effect

probably benign
Transcript: ENSMUST00000137700

Predicted Effect

probably benign
Transcript: ENSMUST00000148252

SMART Domains

Protein: ENSMUSP00000116159
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
Pfam:DEAD_2	1	88	1.3e-33	PFAM
HELICc	379	533	1.07e-62	SMART
low complexity region	858	875	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133856

Predicted Effect

probably benign
Transcript: ENSMUST00000170190
AA Change: H145R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126387
Gene: ENSMUSG00000038671
AA Change: H145R

Domain	Start	End	E-Value	Type
Pfam:Miro	1	90	1.2e-9	PFAM
Pfam:Arf	1	140	8.5e-38	PFAM
Pfam:Gtr1_RagA	2	110	2.2e-6	PFAM
Pfam:SRPRB	4	118	6e-8	PFAM
Pfam:Ras	4	142	2.7e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152580

Predicted Effect

probably benign
Transcript: ENSMUST00000183499

SMART Domains

Protein: ENSMUSP00000138941
Gene: ENSMUSG00000038671

Domain	Start	End	E-Value	Type
Pfam:Arf	4	61	4.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185118

SMART Domains

Protein: ENSMUSP00000139211
Gene: ENSMUSG00000038671

Domain	Start	End	E-Value	Type
Pfam:Arf	4	120	1.6e-30	PFAM
Pfam:SRPRB	15	116	6.6e-8	PFAM
Pfam:Ras	19	116	2.1e-9	PFAM
Pfam:Miro	19	117	7.3e-12	PFAM
Pfam:MMR_HSR1	19	117	1.2e-7	PFAM
Pfam:Gtr1_RagA	19	119	5.5e-9	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: The gene encodes a membrane-associated GTPase that is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) genes. It plays an essential role in Golgi function controlling recruitment of GRIP domain proteins and ARL1 to the trans-Golgi and trans-Golgi to plasma membrane trafficking of cell surface proteins such as E-cadherin. Deletion of this gene in mice leads to embryonic lethality during early gastrulation, which is at least partly caused by the disruption of E-cadherin trafficking to the cell surface and therefore lack of sufficient cell-cell adhesion in the embryo. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality and abnormal development of embryonic tissues. Mutant embryos display an abnormal egg cylinder and lack the ectoplacental and exocoelomic cavities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	A	7: 41,274,256 (GRCm39)	H126Q	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aga	A	G	8: 53,967,361 (GRCm39)	H124R	probably damaging	Het
Ank1	G	A	8: 23,572,212 (GRCm39)	G49R	probably damaging	Het
Aox1	G	T	1: 58,096,714 (GRCm39)	V270L	possibly damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Atg3	A	G	16: 44,979,520 (GRCm39)	T20A	probably benign	Het
C3ar1	A	G	6: 122,827,881 (GRCm39)	L112P	probably damaging	Het
Clip2	G	A	5: 134,551,645 (GRCm39)	T159M	possibly damaging	Het
Csmd3	T	C	15: 47,492,674 (GRCm39)	T3156A	probably benign	Het
Dag1	T	C	9: 108,084,897 (GRCm39)	Y748C	probably damaging	Het
Dek	A	T	13: 47,239,955 (GRCm39)		probably null	Het
Fras1	G	A	5: 96,748,609 (GRCm39)	V695M	probably benign	Het
Gpx7	A	G	4: 108,258,189 (GRCm39)	S135P	probably damaging	Het
Ido2	A	T	8: 25,037,202 (GRCm39)	I168N	probably damaging	Het
Lca5	A	T	9: 83,305,107 (GRCm39)	L233*	probably null	Het
Liph	A	C	16: 21,802,785 (GRCm39)	L95V	probably damaging	Het
Mast1	A	T	8: 85,640,068 (GRCm39)	L1113Q	probably damaging	Het
Nlrx1	C	T	9: 44,175,047 (GRCm39)	G243D	probably damaging	Het
Or4ac1-ps1	G	A	2: 88,370,769 (GRCm39)		noncoding transcript	Het
Or5d40	T	A	2: 88,015,912 (GRCm39)	D230E	probably benign	Het
Otoa	T	C	7: 120,755,693 (GRCm39)	L1033P	probably damaging	Het
Ovol3	A	T	7: 29,932,899 (GRCm39)	Y179N	possibly damaging	Het
Papss2	A	G	19: 32,616,619 (GRCm39)	N215S	probably benign	Het
Pcdhga8	T	C	18: 37,860,488 (GRCm39)	Y515H	probably damaging	Het
Phlda1	CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC	CCAGCCCCAACCTCAGCCCCAACC	10: 111,343,252 (GRCm39)		probably benign	Het
Scn2a	A	T	2: 65,582,355 (GRCm39)	N1568Y	probably damaging	Het
Sec16b	A	T	1: 157,362,334 (GRCm39)	I251F	probably benign	Het
Slc29a4	T	A	5: 142,704,523 (GRCm39)	I355N	probably damaging	Het
Snx29	G	T	16: 11,231,110 (GRCm39)	C39F	possibly damaging	Het
Spata16	A	G	3: 26,721,781 (GRCm39)	M101V	probably benign	Het
Stat2	T	C	10: 128,126,901 (GRCm39)		probably null	Het
Tdpoz8	A	G	3: 92,981,393 (GRCm39)	D137G	probably damaging	Het
Tnrc6c	G	T	11: 117,651,555 (GRCm39)	V1693F	probably benign	Het
Tpm3	A	G	3: 89,993,802 (GRCm39)	E97G	probably damaging	Het
Ugt8a	A	C	3: 125,661,129 (GRCm39)	H454Q	probably damaging	Het
Vmn2r27	T	A	6: 124,169,013 (GRCm39)	I706L	probably damaging	Het
Wdfy3	T	C	5: 101,994,972 (GRCm39)	I3256V	probably null	Het

Other mutations in Arfrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1290:Arfrp1	UTSW	2	181,006,397 (GRCm39)	critical splice donor site	probably null
R2152:Arfrp1	UTSW	2	181,001,487 (GRCm39)	missense	probably benign
R5479:Arfrp1	UTSW	2	181,006,191 (GRCm39)	missense	probably damaging	0.98
R5614:Arfrp1	UTSW	2	181,001,236 (GRCm39)	utr 3 prime	probably benign
R7129:Arfrp1	UTSW	2	181,001,344 (GRCm39)	nonsense	probably null
R7414:Arfrp1	UTSW	2	181,001,307 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TGAATACCTACACTTTTCCAGACAC -3'
(R):5'- TGTACCTGTAAGATTGGCCGG -3'

Sequencing Primer
(F):5'- TCCAGACACAGAGAAAAGTTTGTC -3'
(R):5'- GCGAGATTGTCTGACCCAG -3'

Posted On

2016-07-06