Mutagenetix > Incidental Mutation

Incidental Mutation 'R2991:Rap1gap2'

257911

Institutional Source

Beutler Lab

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 #

R2991 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74274182-74501741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74298148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 491 (A491S)

Ref Sequence

ENSEMBL: ENSMUSP00000040180 (fasta)

Gene Model

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

AlphaFold

Q5SVL6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047488
AA Change: A491S

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: A491S

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: A431S

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: A431S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123440

Meta Mutation Damage Score

0.2916

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	A	9: 30,832,690 (GRCm39)	T282S	probably benign	Het
Asic2	C	A	11: 81,858,863 (GRCm39)	V50L	probably benign	Het
Cdadc1	T	C	14: 59,823,521 (GRCm39)	M324V	possibly damaging	Het
Cdcp3	A	T	7: 130,848,429 (GRCm39)	D861V	probably damaging	Het
Col12a1	A	T	9: 79,607,547 (GRCm39)	V427D	probably damaging	Het
Col3a1	C	A	1: 45,374,939 (GRCm39)		probably benign	Het
Esp24	A	T	17: 39,350,894 (GRCm39)	E31D	possibly damaging	Het
Igkv14-100	T	A	6: 68,496,335 (GRCm39)	L76*	probably null	Het
Itsn2	T	C	12: 4,708,474 (GRCm39)	V843A	probably benign	Het
Llgl2	T	C	11: 115,741,946 (GRCm39)	S663P	probably benign	Het
Lsg1	T	C	16: 30,380,547 (GRCm39)	N630S	probably damaging	Het
Lypd8l	C	T	11: 58,501,516 (GRCm39)	V156I	possibly damaging	Het
Msh4	A	G	3: 153,611,497 (GRCm39)	V42A	probably benign	Het
Nkx6-1	T	C	5: 101,807,401 (GRCm39)	Y327C	probably damaging	Het
Or9i1b	G	A	19: 13,896,675 (GRCm39)	C97Y	probably damaging	Het
Pde4a	T	C	9: 21,114,539 (GRCm39)	S369P	probably damaging	Het
Pkdrej	T	C	15: 85,704,137 (GRCm39)	I600V	probably benign	Het
Plekhg6	T	C	6: 125,347,432 (GRCm39)	E479G	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rgmb	A	T	17: 16,041,352 (GRCm39)	D78E	probably damaging	Het
Samd12	C	T	15: 53,723,592 (GRCm39)	E34K	probably damaging	Het
Slc22a21	T	G	11: 53,850,195 (GRCm39)	E220A	probably damaging	Het
Smc6	A	G	12: 11,339,982 (GRCm39)	E430G	probably damaging	Het
Snx15	C	A	19: 6,171,515 (GRCm39)	L186F	probably damaging	Het
Tiam2	A	G	17: 3,568,525 (GRCm39)	E1557G	probably benign	Het
Vwa8	A	T	14: 79,232,589 (GRCm39)	T644S	probably benign	Het
Zcchc4	T	A	5: 52,961,780 (GRCm39)	F247Y	probably damaging	Het
Zmynd11	A	G	13: 9,745,858 (GRCm39)	V165A	probably damaging	Het

Other mutations in Rap1gap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Rap1gap2	APN	11	74,307,085 (GRCm39)	missense	probably benign	0.25
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
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

Predicted Primers

PCR Primer
(F):5'- GTAACAGAGCAAGACCTGGACATAC -3'
(R):5'- TGGCCTTGGCTGGAAATGAC -3'

Sequencing Primer
(F):5'- GAGCAAGACCTGGACATACTACATG -3'
(R):5'- CTTGGCTGGAAATGACCGGATATG -3'

Posted On

2015-01-11