Mutagenetix > Incidental Mutation

Incidental Mutation 'R5089:Rangap1'

446669

Institutional Source

Beutler Lab

Gene Symbol

Rangap1

Ensembl Gene

ENSMUSG00000022391

Gene Name

RAN GTPase activating protein 1

Synonyms

Fug1

MMRRC Submission

042678-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5089 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

81588449-81614120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 81594664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 388 (D388E)

Ref Sequence

ENSEMBL: ENSMUSP00000130046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052374] [ENSMUST00000170134] [ENSMUST00000171115] [ENSMUST00000230302]

AlphaFold

P46061

Predicted Effect

probably benign
Transcript: ENSMUST00000052374
AA Change: D388E

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

SMART Domains

Protein: ENSMUSP00000057771
Gene: ENSMUSG00000022391
AA Change: D388E

Domain	Start	End	E-Value	Type
LRR	48	75	3.34e-2	SMART
LRR	111	138	4.79e-3	SMART
LRR	141	168	8.34e-3	SMART
Blast:LRR	179	206	6e-8	BLAST
LRR	207	234	9.24e1	SMART
LRR	235	262	1.13e-4	SMART
LRR	263	290	8.37e1	SMART
LRR	292	319	4.74e0	SMART
LRR	320	347	3.21e-4	SMART
low complexity region	359	399	N/A	INTRINSIC
Pfam:RanGAP1_C	407	587	5.9e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170134
AA Change: D388E

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

SMART Domains

Protein: ENSMUSP00000126849
Gene: ENSMUSG00000022391
AA Change: D388E

Domain	Start	End	E-Value	Type
LRR	48	75	3.34e-2	SMART
LRR	111	138	4.79e-3	SMART
LRR	141	168	8.34e-3	SMART
Blast:LRR	179	206	6e-8	BLAST
LRR	207	234	9.24e1	SMART
LRR	235	262	1.13e-4	SMART
LRR	263	290	8.37e1	SMART
LRR	292	319	4.74e0	SMART
LRR	320	347	3.21e-4	SMART
low complexity region	359	399	N/A	INTRINSIC
Pfam:RanGAP1_C	406	588	7.4e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171115
AA Change: D388E

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

SMART Domains

Protein: ENSMUSP00000130046
Gene: ENSMUSG00000022391
AA Change: D388E

Domain	Start	End	E-Value	Type
LRR	48	75	3.34e-2	SMART
LRR	111	138	4.79e-3	SMART
LRR	141	168	8.34e-3	SMART
Blast:LRR	179	206	6e-8	BLAST
LRR	207	234	9.24e1	SMART
LRR	235	262	1.13e-4	SMART
LRR	263	290	8.37e1	SMART
LRR	292	319	4.74e0	SMART
LRR	320	347	3.21e-4	SMART
low complexity region	359	399	N/A	INTRINSIC
Pfam:RanGAP1_C	406	588	7.4e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229705

Predicted Effect

probably benign
Transcript: ENSMUST00000230302

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutation of this gene results in embryo arrest at the egg cylinder stage and lethality by E8.5. The appearance of the proamniotic cavity is delayed and epiblast cells surrounding the cavity are disorganized. Mesoderm and placental development is impaired. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 117,698,672 (GRCm39)	N145S	possibly damaging	Het
Acp2	T	C	2: 91,042,267 (GRCm39)		probably benign	Het
Adgrf2	G	A	17: 43,020,988 (GRCm39)	A612V	probably benign	Het
Bltp1	T	A	3: 37,041,651 (GRCm39)	D2676E	probably benign	Het
Cct3	T	G	3: 88,208,150 (GRCm39)	M46R	probably damaging	Het
Cdc123	T	C	2: 5,809,811 (GRCm39)	D200G	probably benign	Het
Cdh9	T	A	15: 16,778,362 (GRCm39)	F59Y	probably damaging	Het
Cluh	A	G	11: 74,551,198 (GRCm39)	E349G	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Crbn	T	C	6: 106,758,679 (GRCm39)	H381R	possibly damaging	Het
Crim1	A	G	17: 78,681,519 (GRCm39)	D991G	probably damaging	Het
Dhx16	A	T	17: 36,194,981 (GRCm39)	M503L	probably damaging	Het
Dthd1	A	G	5: 63,007,248 (GRCm39)	T650A	probably benign	Het
Etfa	T	A	9: 55,396,150 (GRCm39)	K139*	probably null	Het
Flnc	T	C	6: 29,447,812 (GRCm39)	I1205T	probably damaging	Het
Fzd6	T	A	15: 38,870,875 (GRCm39)	C32S	probably damaging	Het
Gm1110	T	A	9: 26,793,683 (GRCm39)	D515V	probably damaging	Het
Gm7676	T	C	8: 13,946,401 (GRCm39)		noncoding transcript	Het
Gpr157	T	C	4: 150,186,750 (GRCm39)	S293P	possibly damaging	Het
Hc	T	C	2: 34,914,902 (GRCm39)	D810G	probably benign	Het
Helz2	T	C	2: 180,876,942 (GRCm39)	H1184R	probably benign	Het
Hoxc5	A	T	15: 102,922,487 (GRCm39)		probably benign	Het
Iah1	C	T	12: 21,373,309 (GRCm39)	S196L	possibly damaging	Het
Il5	C	T	11: 53,612,655 (GRCm39)	T55I	possibly damaging	Het
Kras	T	C	6: 145,170,869 (GRCm39)	K169E	probably benign	Het
Larp1	C	A	11: 57,938,693 (GRCm39)	T492K	possibly damaging	Het
Lgr5	T	C	10: 115,314,328 (GRCm39)	D203G	probably damaging	Het
Lpcat2	G	A	8: 93,606,071 (GRCm39)	V241M	probably damaging	Het
Mpeg1	G	A	19: 12,440,361 (GRCm39)	M606I	probably benign	Het
Ms4a1	G	A	19: 11,236,176 (GRCm39)	P4S	probably benign	Het
Nat10	A	T	2: 103,587,488 (GRCm39)		probably benign	Het
Ncaph2	T	A	15: 89,240,148 (GRCm39)		probably null	Het
Nfat5	T	A	8: 108,078,070 (GRCm39)	V403D	probably damaging	Het
Or2y10	T	A	11: 49,455,240 (GRCm39)	M164K	possibly damaging	Het
Or4c109	A	G	2: 88,818,516 (GRCm39)	F10S	probably damaging	Het
Pax7	T	C	4: 139,557,576 (GRCm39)	H65R	probably damaging	Het
Phf20	C	A	2: 156,144,782 (GRCm39)	H797N	probably benign	Het
Pkhd1l1	T	A	15: 44,455,283 (GRCm39)	S4015T	probably benign	Het
Prdm5	C	T	6: 65,833,074 (GRCm39)	H148Y	probably benign	Het
Prpf8	A	G	11: 75,400,054 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,129,625 (GRCm39)		probably null	Het
Serpinb6b	G	A	13: 33,162,133 (GRCm39)	E192K	probably benign	Het
Shfl	A	T	9: 20,780,212 (GRCm39)	M1L	probably benign	Het
Skor1	A	G	9: 63,053,205 (GRCm39)	S216P	probably damaging	Het
Slc51a	A	G	16: 32,296,364 (GRCm39)		probably null	Het
Smarcb1	T	C	10: 75,751,013 (GRCm39)	T74A	probably benign	Het
Spg11	A	T	2: 121,945,198 (GRCm39)	Y107*	probably null	Het
Spmip5	A	T	19: 58,774,678 (GRCm39)	L176H	probably damaging	Het
Stk25	T	A	1: 93,552,330 (GRCm39)	K350M	probably benign	Het
Syne1	C	T	10: 5,355,444 (GRCm39)	W379*	probably null	Het
Taco1	A	T	11: 105,960,437 (GRCm39)	E126V	probably benign	Het
Tbc1d12	T	A	19: 38,905,232 (GRCm39)	L649*	probably null	Het
Trpm3	G	A	19: 22,744,120 (GRCm39)	G238R	probably damaging	Het
Yy1	C	A	12: 108,759,663 (GRCm39)	Q109K	probably damaging	Het

Other mutations in Rangap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Rangap1	APN	15	81,606,194 (GRCm39)	missense	probably benign	0.04
IGL01080:Rangap1	APN	15	81,589,953 (GRCm39)	splice site	probably benign
IGL01608:Rangap1	APN	15	81,593,705 (GRCm39)	missense	probably benign	0.00
IGL01939:Rangap1	APN	15	81,604,864 (GRCm39)	missense	probably damaging	0.97
IGL03163:Rangap1	APN	15	81,600,801 (GRCm39)	missense	probably damaging	1.00
R0413:Rangap1	UTSW	15	81,600,876 (GRCm39)	frame shift	probably null
R0423:Rangap1	UTSW	15	81,589,664 (GRCm39)	missense	probably damaging	1.00
R0843:Rangap1	UTSW	15	81,594,703 (GRCm39)	missense	probably benign
R1960:Rangap1	UTSW	15	81,590,704 (GRCm39)	missense	probably benign	0.00
R3687:Rangap1	UTSW	15	81,602,963 (GRCm39)	missense	possibly damaging	0.76
R3688:Rangap1	UTSW	15	81,602,963 (GRCm39)	missense	possibly damaging	0.76
R3713:Rangap1	UTSW	15	81,594,661 (GRCm39)	missense	probably benign	0.00
R3715:Rangap1	UTSW	15	81,594,661 (GRCm39)	missense	probably benign	0.00
R4727:Rangap1	UTSW	15	81,613,956 (GRCm39)	intron	probably benign
R4755:Rangap1	UTSW	15	81,597,118 (GRCm39)	missense	probably benign	0.00
R5051:Rangap1	UTSW	15	81,594,664 (GRCm39)	missense	probably benign	0.00
R5088:Rangap1	UTSW	15	81,594,664 (GRCm39)	missense	probably benign	0.00
R5374:Rangap1	UTSW	15	81,590,695 (GRCm39)	missense	probably benign	0.01
R5391:Rangap1	UTSW	15	81,590,647 (GRCm39)	missense	probably benign	0.01
R5395:Rangap1	UTSW	15	81,590,647 (GRCm39)	missense	probably benign	0.01
R6439:Rangap1	UTSW	15	81,596,336 (GRCm39)	missense	probably benign
R8083:Rangap1	UTSW	15	81,603,101 (GRCm39)	missense	probably benign	0.02
R8161:Rangap1	UTSW	15	81,594,696 (GRCm39)	missense	probably benign	0.19
R8864:Rangap1	UTSW	15	81,610,270 (GRCm39)	intron	probably benign
R9320:Rangap1	UTSW	15	81,606,221 (GRCm39)	missense	probably benign	0.00
R9673:Rangap1	UTSW	15	81,590,637 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- CCAGCTGGCCTTTGCATTAC -3'
(R):5'- TCCTTAGTGGAGTGAAGACTCTGG -3'

Sequencing Primer
(F):5'- GGCCTTTGCATTACTGGACTTAAAC -3'
(R):5'- AGTGAAGACTCTGGTGGCC -3'

Posted On

2016-12-12