Incidental Mutation 'R8897:Rasgrp2'
ID 678141
Institutional Source Beutler Lab
Gene Symbol Rasgrp2
Ensembl Gene ENSMUSG00000032946
Gene Name RAS, guanyl releasing protein 2
Synonyms Caldaggef1, CalDAG-GEFI
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8897 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 6449370-6465246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6453100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 75 (T75A)
Ref Sequence ENSEMBL: ENSMUSP00000109100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035269] [ENSMUST00000035716] [ENSMUST00000113467] [ENSMUST00000113468] [ENSMUST00000113469] [ENSMUST00000113471] [ENSMUST00000113472] [ENSMUST00000113475] [ENSMUST00000113476] [ENSMUST00000113483] [ENSMUST00000127021] [ENSMUST00000138555] [ENSMUST00000139522] [ENSMUST00000146601] [ENSMUST00000146831] [ENSMUST00000150713] [ENSMUST00000167240]
AlphaFold Q9QUG9
Predicted Effect probably benign
Transcript: ENSMUST00000035269
SMART Domains Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035716
AA Change: T75A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
AA Change: T75A

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
RasGEF 150 388 1.08e-100 SMART
EFh 430 458 8.25e-3 SMART
EFh 459 487 1.42e1 SMART
C1 499 548 3.22e-14 SMART
low complexity region 575 595 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113467
AA Change: N38S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109095
Gene: ENSMUSG00000032946
AA Change: N38S

DomainStartEndE-ValueType
Blast:RasGEFN 3 24 9e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113468
AA Change: T75A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000109096
Gene: ENSMUSG00000032946
AA Change: T75A

DomainStartEndE-ValueType
RasGEFN 3 97 1.93e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113469
AA Change: N48S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109097
Gene: ENSMUSG00000032946
AA Change: N48S

DomainStartEndE-ValueType
Blast:RasGEFN 3 24 1e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113471
AA Change: T75A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109099
Gene: ENSMUSG00000032946
AA Change: T75A

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113472
AA Change: T75A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109100
Gene: ENSMUSG00000032946
AA Change: T75A

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113475
AA Change: T75A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109103
Gene: ENSMUSG00000032946
AA Change: T75A

DomainStartEndE-ValueType
RasGEFN 3 126 7.2e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113476
AA Change: T75A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
AA Change: T75A

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
RasGEF 150 388 1.08e-100 SMART
EFh 430 458 8.25e-3 SMART
EFh 459 487 1.42e1 SMART
C1 499 548 3.22e-14 SMART
low complexity region 575 595 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113483
SMART Domains Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648

DomainStartEndE-ValueType
Pfam:Phosphorylase 62 742 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000127021
AA Change: N48S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119740
Gene: ENSMUSG00000032946
AA Change: N48S

DomainStartEndE-ValueType
Blast:RasGEFN 3 24 1e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000138555
AA Change: T75A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946
AA Change: T75A

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Pfam:RasGEF 151 231 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139522
AA Change: T75A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000123036
Gene: ENSMUSG00000032946
AA Change: T75A

DomainStartEndE-ValueType
RasGEFN 3 125 6.02e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146601
SMART Domains Protein: ENSMUSP00000117681
Gene: ENSMUSG00000032946

DomainStartEndE-ValueType
Blast:RasGEFN 3 58 1e-35 BLAST
SCOP:d1bkds_ 9 58 1e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146831
AA Change: T75A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946
AA Change: T75A

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000120949
Gene: ENSMUSG00000032946
AA Change: T75A

DomainStartEndE-ValueType
RasGEFN 3 95 6.73e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167240
AA Change: T75A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
AA Change: T75A

DomainStartEndE-ValueType
RasGEFN 3 126 3.56e-29 SMART
RasGEF 150 388 1.08e-100 SMART
EFh 430 458 8.25e-3 SMART
EFh 459 487 1.42e1 SMART
C1 499 548 3.22e-14 SMART
low complexity region 575 595 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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 is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele do not undergo spontaneous hemorrhaging but exhibit impaired platelet aggregation, resistance to collagen-induced thrombosis, and increased bleeding times after tail transection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,635,934 (GRCm39) L329Q probably damaging Het
Adam26b A T 8: 43,974,009 (GRCm39) M331K possibly damaging Het
Ak3 T C 19: 29,025,118 (GRCm39) S38G probably damaging Het
Ankrd10 A T 8: 11,665,788 (GRCm39) C271S possibly damaging Het
Ap1s3 A G 1: 79,601,494 (GRCm39) Y66H probably damaging Het
Ap4b1 A T 3: 103,729,065 (GRCm39) I736L probably benign Het
Arpp19 T A 9: 74,963,948 (GRCm39) M67K possibly damaging Het
Brf1 T G 12: 112,951,589 (GRCm39) H130P probably damaging Het
Cacna1s C G 1: 136,045,392 (GRCm39) T1680S probably benign Het
Cckar C T 5: 53,864,583 (GRCm39) probably benign Het
Cd93 T C 2: 148,283,532 (GRCm39) K605E probably benign Het
Cdcp3 T C 7: 130,867,566 (GRCm39) M1409T unknown Het
Ces1h C T 8: 94,080,093 (GRCm39) V474I unknown Het
Cfap70 A T 14: 20,493,669 (GRCm39) probably null Het
Ch25h G A 19: 34,452,441 (GRCm39) T29I possibly damaging Het
Csmd3 T A 15: 48,222,739 (GRCm39) T329S probably benign Het
Cux1 T C 5: 136,315,623 (GRCm39) N1139S probably damaging Het
Cyp2j6 G T 4: 96,414,087 (GRCm39) H393N probably benign Het
Cyp8b1 C A 9: 121,745,358 (GRCm39) probably benign Het
Dchs2 T G 3: 83,036,720 (GRCm39) L489R probably damaging Het
Dip2a T C 10: 76,110,098 (GRCm39) T1173A probably benign Het
Exoc3l2 T G 7: 19,203,931 (GRCm39) probably null Het
Fastkd3 G A 13: 68,732,303 (GRCm39) R208H probably damaging Het
Fbxo16 C A 14: 65,531,287 (GRCm39) R64S probably benign Het
Frem3 A T 8: 81,339,419 (GRCm39) I571F probably damaging Het
Ftsj3 T A 11: 106,144,602 (GRCm39) D129V probably damaging Het
Gm6370 A G 5: 146,430,447 (GRCm39) T211A probably benign Het
Gpr171 A T 3: 59,005,116 (GRCm39) S220T probably benign Het
Gsta3 T C 1: 21,330,370 (GRCm39) I124T probably benign Het
Hydin A G 8: 111,316,112 (GRCm39) I4335V probably benign Het
Ift80 T C 3: 68,857,809 (GRCm39) I279V probably benign Het
Ighv1-13 T A 12: 114,594,439 (GRCm39) M47K unknown Het
Il22ra2 A G 10: 19,507,401 (GRCm39) N138S probably damaging Het
Impact A G 18: 13,123,551 (GRCm39) D298G probably benign Het
Ipo7 T C 7: 109,643,943 (GRCm39) probably null Het
Kif5b T C 18: 6,225,437 (GRCm39) N198D probably damaging Het
Klhl36 A G 8: 120,597,279 (GRCm39) T327A probably benign Het
Lepr A G 4: 101,649,233 (GRCm39) N878S probably damaging Het
Lpxn T A 19: 12,802,525 (GRCm39) F244L probably damaging Het
Lrriq4 C A 3: 30,709,807 (GRCm39) L384I probably damaging Het
Ltbp4 A C 7: 27,026,119 (GRCm39) I629S probably benign Het
Lypd5 T C 7: 24,051,015 (GRCm39) V42A probably benign Het
Mc4r A G 18: 66,992,304 (GRCm39) S270P probably damaging Het
Mctp2 T G 7: 71,909,311 (GRCm39) M1L probably benign Het
Myh4 G A 11: 67,137,362 (GRCm39) E528K possibly damaging Het
Nes T A 3: 87,886,653 (GRCm39) H1637Q possibly damaging Het
Or4f7 T C 2: 111,644,576 (GRCm39) D165G probably benign Het
Or5g25 A T 2: 85,478,187 (GRCm39) H159Q possibly damaging Het
Or8b3b C T 9: 38,584,147 (GRCm39) V198I probably damaging Het
Pan3 T C 5: 147,387,472 (GRCm39) M147T probably benign Het
Pcdhga6 G T 18: 37,841,642 (GRCm39) R454L probably benign Het
Pdss2 A G 10: 43,221,663 (GRCm39) S192G probably damaging Het
Pld6 A T 11: 59,678,382 (GRCm39) M27K probably benign Het
Plec C T 15: 76,057,598 (GRCm39) R4113H probably damaging Het
Ptprk T C 10: 28,467,953 (GRCm39) S1379P probably damaging Het
Rapgef2 T C 3: 79,019,566 (GRCm39) H35R probably damaging Het
Rexo1 A G 10: 80,378,437 (GRCm39) L1172P probably damaging Het
Rfx7 C T 9: 72,525,123 (GRCm39) S771L probably benign Het
Rpap3 A G 15: 97,585,998 (GRCm39) I331T probably benign Het
Scn2a A G 2: 65,546,002 (GRCm39) probably null Het
Sec23ip T A 7: 128,354,467 (GRCm39) V241D probably benign Het
Sez6l C A 5: 112,588,744 (GRCm39) Q656H possibly damaging Het
Sh3gl2 A T 4: 85,273,597 (GRCm39) I50L probably benign Het
Tab2 T C 10: 7,786,897 (GRCm39) D605G probably damaging Het
Tas2r110 T A 6: 132,845,374 (GRCm39) V135D probably damaging Het
Thap12 T C 7: 98,364,534 (GRCm39) M234T probably benign Het
Trhr C A 15: 44,060,736 (GRCm39) D85E probably benign Het
Trim67 A G 8: 125,552,718 (GRCm39) I607V probably benign Het
Trpm4 C T 7: 44,960,055 (GRCm39) C760Y probably benign Het
Ttll9 T C 2: 152,844,841 (GRCm39) V403A probably damaging Het
Uhrf1 T C 17: 56,617,817 (GRCm39) Y180H probably damaging Het
Unc119b C T 5: 115,272,977 (GRCm39) probably benign Het
Vmn2r44 T A 7: 8,381,242 (GRCm39) D217V probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zscan4-ps3 A T 7: 11,346,767 (GRCm39) R268* probably null Het
Other mutations in Rasgrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Rasgrp2 APN 19 6,454,413 (GRCm39) missense probably damaging 1.00
IGL03053:Rasgrp2 APN 19 6,457,362 (GRCm39) splice site probably benign
afar UTSW 19 6,453,595 (GRCm39) critical splice donor site probably null
thither UTSW 19 6,454,757 (GRCm39) missense probably damaging 1.00
R1593:Rasgrp2 UTSW 19 6,453,490 (GRCm39) missense possibly damaging 0.77
R1604:Rasgrp2 UTSW 19 6,457,087 (GRCm39) missense possibly damaging 0.62
R2016:Rasgrp2 UTSW 19 6,463,195 (GRCm39) missense probably benign 0.01
R2017:Rasgrp2 UTSW 19 6,463,195 (GRCm39) missense probably benign 0.01
R2119:Rasgrp2 UTSW 19 6,454,425 (GRCm39) missense probably benign 0.00
R2120:Rasgrp2 UTSW 19 6,454,425 (GRCm39) missense probably benign 0.00
R2122:Rasgrp2 UTSW 19 6,454,425 (GRCm39) missense probably benign 0.00
R2124:Rasgrp2 UTSW 19 6,454,425 (GRCm39) missense probably benign 0.00
R3879:Rasgrp2 UTSW 19 6,463,920 (GRCm39) missense probably benign 0.07
R4049:Rasgrp2 UTSW 19 6,454,757 (GRCm39) missense probably damaging 1.00
R4655:Rasgrp2 UTSW 19 6,454,876 (GRCm39) intron probably benign
R5250:Rasgrp2 UTSW 19 6,454,343 (GRCm39) missense probably damaging 1.00
R5320:Rasgrp2 UTSW 19 6,458,864 (GRCm39) splice site probably null
R5620:Rasgrp2 UTSW 19 6,455,031 (GRCm39) missense probably damaging 1.00
R5933:Rasgrp2 UTSW 19 6,452,543 (GRCm39) missense probably damaging 1.00
R6155:Rasgrp2 UTSW 19 6,452,531 (GRCm39) missense probably damaging 1.00
R6157:Rasgrp2 UTSW 19 6,452,531 (GRCm39) missense probably damaging 1.00
R6867:Rasgrp2 UTSW 19 6,463,213 (GRCm39) missense probably benign 0.00
R7237:Rasgrp2 UTSW 19 6,454,838 (GRCm39) missense possibly damaging 0.79
R7575:Rasgrp2 UTSW 19 6,454,397 (GRCm39) missense probably damaging 0.99
R7659:Rasgrp2 UTSW 19 6,451,857 (GRCm39) missense probably damaging 0.98
R7744:Rasgrp2 UTSW 19 6,455,031 (GRCm39) missense probably damaging 1.00
R7960:Rasgrp2 UTSW 19 6,464,839 (GRCm39) missense probably benign
R7975:Rasgrp2 UTSW 19 6,458,589 (GRCm39) missense probably damaging 1.00
R8415:Rasgrp2 UTSW 19 6,454,781 (GRCm39) missense probably damaging 1.00
R8470:Rasgrp2 UTSW 19 6,453,595 (GRCm39) critical splice donor site probably null
R8745:Rasgrp2 UTSW 19 6,463,949 (GRCm39) missense probably damaging 1.00
R8853:Rasgrp2 UTSW 19 6,464,855 (GRCm39) missense probably damaging 0.98
R9108:Rasgrp2 UTSW 19 6,458,890 (GRCm39) missense probably damaging 1.00
R9127:Rasgrp2 UTSW 19 6,454,438 (GRCm39) missense possibly damaging 0.91
R9725:Rasgrp2 UTSW 19 6,463,907 (GRCm39) missense probably benign 0.07
R9725:Rasgrp2 UTSW 19 6,454,694 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTGAAATCCAACCCTCCG -3'
(R):5'- GGTGAAATGCAGCCATTCCC -3'

Sequencing Primer
(F):5'- GCCCCCAGAGTTGACTTATCAG -3'
(R):5'- TTCTCCATCCACAACCCCGG -3'
Posted On 2021-08-02