Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00687:Rap1gap2'

13749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rap1gap2

Ensembl Gene

ENSMUSG00000038807

Gene Name

RAP1 GTPase activating protein 2

Synonyms

Garnl4, LOC380710

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00687

Quality Score

Status

Chromosome

Chromosomal Location

74274182-74501741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74307085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 337 (D337V)

Ref Sequence

ENSEMBL: ENSMUSP00000040180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047488] [ENSMUST00000102521]

AlphaFold

Q5SVL6

Predicted Effect

probably benign
Transcript: ENSMUST00000047488
AA Change: D337V

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: D337V

Domain	Start	End	E-Value	Type
Pfam:Rap_GAP	258	445	1.2e-64	PFAM
low complexity region	617	629	N/A	INTRINSIC
low complexity region	660	669	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102521
AA Change: D277V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: D277V

Domain	Start	End	E-Value	Type
Pfam:Rap_GAP	258	439	4.9e-67	PFAM
low complexity region	617	629	N/A	INTRINSIC
low complexity region	660	669	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v0a1	T	A	11: 100,921,331 (GRCm39)		probably null	Het
Cpb2	A	G	14: 75,512,533 (GRCm39)	I315M	possibly damaging	Het
Dnah11	T	A	12: 117,885,739 (GRCm39)		probably benign	Het
G3bp2	T	C	5: 92,213,707 (GRCm39)	E150G	probably damaging	Het
Ibsp	A	G	5: 104,457,934 (GRCm39)	E157G	probably benign	Het
Ms4a4c	T	C	19: 11,398,682 (GRCm39)	S167P	possibly damaging	Het
Pkhd1	T	C	1: 20,594,294 (GRCm39)	N1273S	probably benign	Het
Slc35f3	T	C	8: 127,108,903 (GRCm39)	F151L	probably benign	Het
Unc5d	A	T	8: 29,205,841 (GRCm39)		probably benign	Het
Zfp711	G	A	X: 111,534,508 (GRCm39)	R284Q	probably damaging	Het

Other mutations in Rap1gap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Rap1gap2	APN	11	74,328,274 (GRCm39)	missense	probably damaging	1.00
IGL02301:Rap1gap2	APN	11	74,298,195 (GRCm39)	missense	probably damaging	1.00
IGL02367:Rap1gap2	APN	11	74,288,181 (GRCm39)	critical splice donor site	probably null
IGL02832:Rap1gap2	APN	11	74,303,281 (GRCm39)	splice site	probably benign
IGL03067:Rap1gap2	APN	11	74,284,238 (GRCm39)	missense	possibly damaging	0.63
IGL03341:Rap1gap2	APN	11	74,326,540 (GRCm39)	missense	probably damaging	1.00
IGL03355:Rap1gap2	APN	11	74,303,170 (GRCm39)	missense	probably damaging	1.00
drummerboy	UTSW	11	74,298,198 (GRCm39)	missense	probably damaging	1.00
magister	UTSW	11	74,326,587 (GRCm39)	nonsense	probably null
P0026:Rap1gap2	UTSW	11	74,458,036 (GRCm39)	splice site	probably benign
R0106:Rap1gap2	UTSW	11	74,326,570 (GRCm39)	missense	probably benign	0.10
R0106:Rap1gap2	UTSW	11	74,326,570 (GRCm39)	missense	probably benign	0.10
R0514:Rap1gap2	UTSW	11	74,279,680 (GRCm39)	missense	possibly damaging	0.74
R0518:Rap1gap2	UTSW	11	74,332,592 (GRCm39)	missense	probably damaging	1.00
R0521:Rap1gap2	UTSW	11	74,332,592 (GRCm39)	missense	probably damaging	1.00
R1070:Rap1gap2	UTSW	11	74,327,853 (GRCm39)	missense	possibly damaging	0.71
R1467:Rap1gap2	UTSW	11	74,327,853 (GRCm39)	missense	possibly damaging	0.71
R1467:Rap1gap2	UTSW	11	74,327,853 (GRCm39)	missense	possibly damaging	0.71
R1998:Rap1gap2	UTSW	11	74,286,659 (GRCm39)	missense	probably benign	0.04
R2144:Rap1gap2	UTSW	11	74,316,802 (GRCm39)	missense	probably damaging	1.00
R2145:Rap1gap2	UTSW	11	74,316,802 (GRCm39)	missense	probably damaging	1.00
R2180:Rap1gap2	UTSW	11	74,283,972 (GRCm39)	missense	probably benign	0.24
R2938:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R2991:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R2992:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R2993:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R3033:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R3035:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R3686:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R4426:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R4427:Rap1gap2	UTSW	11	74,298,148 (GRCm39)	missense	possibly damaging	0.71
R4621:Rap1gap2	UTSW	11	74,326,525 (GRCm39)	critical splice donor site	probably null
R4705:Rap1gap2	UTSW	11	74,328,265 (GRCm39)	missense	probably damaging	1.00
R4809:Rap1gap2	UTSW	11	74,298,800 (GRCm39)	splice site	probably benign
R5092:Rap1gap2	UTSW	11	74,329,121 (GRCm39)	missense	probably damaging	1.00
R5283:Rap1gap2	UTSW	11	74,286,651 (GRCm39)	missense	probably damaging	1.00
R5343:Rap1gap2	UTSW	11	74,332,611 (GRCm39)	missense	probably damaging	0.99
R5941:Rap1gap2	UTSW	11	74,283,063 (GRCm39)	missense	probably damaging	1.00
R6414:Rap1gap2	UTSW	11	74,296,616 (GRCm39)	missense	probably damaging	1.00
R6647:Rap1gap2	UTSW	11	74,298,754 (GRCm39)	missense	probably benign	0.04
R6951:Rap1gap2	UTSW	11	74,375,774 (GRCm39)	missense	possibly damaging	0.81
R7096:Rap1gap2	UTSW	11	74,283,057 (GRCm39)	missense	probably damaging	0.99
R7107:Rap1gap2	UTSW	11	74,283,945 (GRCm39)	missense	probably damaging	1.00
R7397:Rap1gap2	UTSW	11	74,305,237 (GRCm39)	missense	probably benign	0.28
R7553:Rap1gap2	UTSW	11	74,326,548 (GRCm39)	missense	probably damaging	0.97
R8038:Rap1gap2	UTSW	11	74,283,109 (GRCm39)	missense	probably benign	0.00
R8051:Rap1gap2	UTSW	11	74,286,651 (GRCm39)	missense	probably damaging	0.97
R8466:Rap1gap2	UTSW	11	74,316,057 (GRCm39)	missense	probably benign	0.33
R8772:Rap1gap2	UTSW	11	74,296,551 (GRCm39)	missense	probably damaging	1.00
R8853:Rap1gap2	UTSW	11	74,298,198 (GRCm39)	missense	probably damaging	1.00
R8914:Rap1gap2	UTSW	11	74,326,587 (GRCm39)	nonsense	probably null
R9506:Rap1gap2	UTSW	11	74,305,266 (GRCm39)	missense	probably damaging	0.98
R9600:Rap1gap2	UTSW	11	74,283,954 (GRCm39)	missense	probably benign	0.01
Z1176:Rap1gap2	UTSW	11	74,501,703 (GRCm39)	frame shift	probably null
Z1186:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1187:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1188:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1189:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1190:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1191:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41
Z1192:Rap1gap2	UTSW	11	74,487,721 (GRCm39)	missense	probably benign	0.41

Posted On

2012-12-06