Incidental Mutation 'R7323:Arap1'
ID 568284
Institutional Source Beutler Lab
Gene Symbol Arap1
Ensembl Gene ENSMUSG00000032812
Gene Name ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1
Synonyms Centd2, 2410002L19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7323 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 100997296-101061793 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101049418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 960 (D960G)
Ref Sequence ENSEMBL: ENSMUSP00000081958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084895] [ENSMUST00000084896] [ENSMUST00000098243] [ENSMUST00000107010] [ENSMUST00000155754]
AlphaFold Q4LDD4
Predicted Effect probably damaging
Transcript: ENSMUST00000084895
AA Change: D712G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
AA Change: D712G

DomainStartEndE-ValueType
low complexity region 19 37 N/A INTRINSIC
PH 82 175 2.62e-17 SMART
PH 195 285 3.6e-6 SMART
ArfGap 289 415 2.4e-22 SMART
PH 498 606 1.23e-13 SMART
PH 616 710 1.08e0 SMART
RhoGAP 722 904 1.35e-63 SMART
Pfam:RA 926 1015 1.5e-10 PFAM
PH 1029 1141 8.58e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000084896
AA Change: D960G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
AA Change: D960G

DomainStartEndE-ValueType
SAM 3 70 1.72e-7 SMART
low complexity region 92 104 N/A INTRINSIC
low complexity region 115 126 N/A INTRINSIC
low complexity region 135 146 N/A INTRINSIC
low complexity region 151 167 N/A INTRINSIC
low complexity region 197 227 N/A INTRINSIC
low complexity region 267 285 N/A INTRINSIC
PH 330 423 2.62e-17 SMART
PH 443 533 3.6e-6 SMART
ArfGap 537 663 2.4e-22 SMART
PH 746 854 1.23e-13 SMART
PH 864 958 1.08e0 SMART
RhoGAP 970 1152 1.35e-63 SMART
Pfam:RA 1174 1263 6.6e-13 PFAM
PH 1277 1400 8e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098243
AA Change: D246G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095844
Gene: ENSMUSG00000032812
AA Change: D246G

DomainStartEndE-ValueType
PH 32 140 1.23e-13 SMART
PH 150 244 1.08e0 SMART
RhoGAP 256 438 1.35e-63 SMART
Pfam:RA 460 549 1.2e-11 PFAM
PH 563 675 8.58e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107010
AA Change: D960G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
AA Change: D960G

DomainStartEndE-ValueType
SAM 3 70 1.72e-7 SMART
low complexity region 92 104 N/A INTRINSIC
low complexity region 115 126 N/A INTRINSIC
low complexity region 135 146 N/A INTRINSIC
low complexity region 151 167 N/A INTRINSIC
low complexity region 197 227 N/A INTRINSIC
low complexity region 267 285 N/A INTRINSIC
PH 330 423 2.62e-17 SMART
PH 443 533 3.6e-6 SMART
ArfGap 537 663 2.4e-22 SMART
PH 746 854 1.23e-13 SMART
PH 864 958 1.08e0 SMART
RhoGAP 970 1152 1.35e-63 SMART
Pfam:RA 1174 1263 1.9e-10 PFAM
PH 1277 1389 8.58e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155754
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik C A 5: 100,126,945 (GRCm39) A9E unknown Het
6030452D12Rik A T 8: 107,227,411 (GRCm39) probably null Het
Abcb11 C A 2: 69,117,979 (GRCm39) Q466H probably damaging Het
Adam20 A G 8: 41,248,421 (GRCm39) D177G probably benign Het
Ampd1 A T 3: 102,992,696 (GRCm39) Q150L probably benign Het
Angpt2 A C 8: 18,755,840 (GRCm39) M209R probably benign Het
Aoc2 G A 11: 101,219,371 (GRCm39) R598Q probably damaging Het
Bhlhe40 G C 6: 108,642,242 (GRCm39) L395F probably benign Het
Cacna1i T C 15: 80,275,854 (GRCm39) C1882R possibly damaging Het
Ccr6 A G 17: 8,475,611 (GRCm39) N272S possibly damaging Het
Ces1f A T 8: 93,998,472 (GRCm39) W175R probably damaging Het
Ces3a A C 8: 105,782,239 (GRCm39) H364P possibly damaging Het
Cfap54 T C 10: 92,637,000 (GRCm39) M3130V probably benign Het
Clca3b G A 3: 144,531,681 (GRCm39) P708S possibly damaging Het
Cps1 A T 1: 67,197,028 (GRCm39) T360S probably benign Het
Cramp1 A T 17: 25,201,379 (GRCm39) M701K possibly damaging Het
Dnah1 A G 14: 31,020,664 (GRCm39) I1235T probably damaging Het
Efcab3 T C 11: 104,920,837 (GRCm39) L4676P probably benign Het
Ergic1 A G 17: 26,860,644 (GRCm39) E244G probably damaging Het
Fignl2 C A 15: 100,951,382 (GRCm39) R300L unknown Het
Fry T C 5: 150,419,814 (GRCm39) M628T Het
Fscn3 A G 6: 28,431,544 (GRCm39) T292A possibly damaging Het
Fsip2 A T 2: 82,819,860 (GRCm39) I5198L probably benign Het
Gm4181 T A 14: 51,869,990 (GRCm39) R104W probably damaging Het
Gnl1 G A 17: 36,294,305 (GRCm39) R308H probably benign Het
Gtf2h4 G T 17: 35,980,857 (GRCm39) L271I probably damaging Het
Helq GTTT GTT 5: 100,931,051 (GRCm39) probably null Het
Hhatl A T 9: 121,618,652 (GRCm39) W117R probably benign Het
Hlx A G 1: 184,462,993 (GRCm39) F220L probably benign Het
Il31ra T C 13: 112,688,497 (GRCm39) I27V probably damaging Het
Itga8 T G 2: 12,266,940 (GRCm39) D165A probably damaging Het
Krt33a A C 11: 99,902,801 (GRCm39) V341G probably benign Het
Lrrc3c A G 11: 98,490,266 (GRCm39) M208V possibly damaging Het
Mapk8ip3 A T 17: 25,120,135 (GRCm39) S947T probably benign Het
Muc5b A G 7: 141,412,444 (GRCm39) I1797V unknown Het
Myh2 A T 11: 67,088,191 (GRCm39) T1936S probably benign Het
Nr1h2 T C 7: 44,199,746 (GRCm39) Y391C possibly damaging Het
Or1l8 T A 2: 36,817,986 (GRCm39) I47F probably damaging Het
Or4c114 A T 2: 88,904,811 (GRCm39) I208K probably damaging Het
Or4e2 A G 14: 52,688,670 (GRCm39) I267V probably benign Het
Or5d40 A G 2: 88,015,952 (GRCm39) T244A possibly damaging Het
Phf3 A G 1: 30,852,211 (GRCm39) M1064T probably benign Het
Pkd1 A G 17: 24,794,025 (GRCm39) E1904G probably benign Het
Polrmt A G 10: 79,576,483 (GRCm39) V491A probably benign Het
Ppm1j C A 3: 104,691,429 (GRCm39) R306S probably damaging Het
Prkd2 T C 7: 16,581,547 (GRCm39) F134S probably benign Het
Prpf8 C A 11: 75,382,610 (GRCm39) Q439K probably benign Het
Prss50 A T 9: 110,692,800 (GRCm39) I307F possibly damaging Het
Rgs20 A G 1: 4,982,535 (GRCm39) probably null Het
Rnf144b A G 13: 47,393,258 (GRCm39) E199G probably damaging Het
Slc12a4 C T 8: 106,682,347 (GRCm39) G121S probably damaging Het
Slc22a26 A T 19: 7,768,259 (GRCm39) V233E probably damaging Het
Slc27a2 T G 2: 126,395,124 (GRCm39) L17R probably benign Het
Slc6a17 A G 3: 107,398,794 (GRCm39) V269A probably benign Het
Srp54c T C 12: 55,304,237 (GRCm39) V395A probably benign Het
Sspo A T 6: 48,438,581 (GRCm39) S1550C possibly damaging Het
Tet1 A G 10: 62,715,818 (GRCm39) probably benign Het
Themis A T 10: 28,609,497 (GRCm39) H88L probably benign Het
Tmem63b G A 17: 45,971,773 (GRCm39) T814M possibly damaging Het
Tnc G A 4: 63,889,469 (GRCm39) T1679I probably damaging Het
Tnfrsf11a A G 1: 105,772,456 (GRCm39) D581G probably damaging Het
Trim30d A C 7: 104,132,555 (GRCm39) V244G probably benign Het
Trpv1 T C 11: 73,151,163 (GRCm39) S784P possibly damaging Het
Tulp1 G A 17: 28,575,398 (GRCm39) T103M probably damaging Het
Ubap2l A C 3: 89,922,713 (GRCm39) V775G unknown Het
Vmn2r69 A C 7: 85,060,972 (GRCm39) I204R possibly damaging Het
Vmn2r72 T A 7: 85,399,771 (GRCm39) D426V probably benign Het
Vmn2r93 G A 17: 18,533,497 (GRCm39) W467* probably null Het
Wbp2nl T C 15: 82,198,542 (GRCm39) *360Q probably null Het
Xylt1 G A 7: 117,191,274 (GRCm39) probably null Het
Zc3h6 T G 2: 128,835,331 (GRCm39) N123K unknown Het
Zfp853 T C 5: 143,275,110 (GRCm39) Q185R unknown Het
Other mutations in Arap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Arap1 APN 7 101,037,256 (GRCm39) missense probably damaging 0.96
IGL01311:Arap1 APN 7 101,037,343 (GRCm39) nonsense probably null
IGL01349:Arap1 APN 7 101,036,359 (GRCm39) missense possibly damaging 0.84
IGL01521:Arap1 APN 7 101,049,812 (GRCm39) critical splice donor site probably null
IGL01869:Arap1 APN 7 101,049,490 (GRCm39) missense probably damaging 1.00
IGL02156:Arap1 APN 7 101,037,937 (GRCm39) unclassified probably benign
IGL02320:Arap1 APN 7 101,034,236 (GRCm39) missense probably benign
IGL02478:Arap1 APN 7 101,049,332 (GRCm39) splice site probably null
R0133:Arap1 UTSW 7 101,035,436 (GRCm39) missense probably damaging 0.98
R0233:Arap1 UTSW 7 101,049,448 (GRCm39) missense possibly damaging 0.47
R0233:Arap1 UTSW 7 101,049,448 (GRCm39) missense possibly damaging 0.47
R0412:Arap1 UTSW 7 101,039,429 (GRCm39) missense probably damaging 0.98
R0616:Arap1 UTSW 7 101,050,857 (GRCm39) missense possibly damaging 0.64
R0838:Arap1 UTSW 7 101,049,619 (GRCm39) missense probably damaging 1.00
R0962:Arap1 UTSW 7 101,034,121 (GRCm39) missense possibly damaging 0.56
R1186:Arap1 UTSW 7 101,053,476 (GRCm39) splice site probably benign
R1405:Arap1 UTSW 7 101,047,643 (GRCm39) splice site probably null
R1405:Arap1 UTSW 7 101,047,643 (GRCm39) splice site probably null
R1724:Arap1 UTSW 7 101,049,733 (GRCm39) missense possibly damaging 0.91
R1793:Arap1 UTSW 7 101,037,829 (GRCm39) missense probably benign
R1959:Arap1 UTSW 7 101,022,222 (GRCm39) missense probably damaging 1.00
R1960:Arap1 UTSW 7 101,022,222 (GRCm39) missense probably damaging 1.00
R2020:Arap1 UTSW 7 101,050,725 (GRCm39) missense probably benign 0.00
R2128:Arap1 UTSW 7 101,058,527 (GRCm39) missense probably damaging 1.00
R3737:Arap1 UTSW 7 101,049,484 (GRCm39) missense possibly damaging 0.85
R3851:Arap1 UTSW 7 101,039,372 (GRCm39) nonsense probably null
R4034:Arap1 UTSW 7 101,049,484 (GRCm39) missense possibly damaging 0.85
R4386:Arap1 UTSW 7 101,034,778 (GRCm39) missense probably benign
R4435:Arap1 UTSW 7 101,039,461 (GRCm39) missense possibly damaging 0.74
R4779:Arap1 UTSW 7 101,053,574 (GRCm39) missense probably damaging 1.00
R4786:Arap1 UTSW 7 101,034,212 (GRCm39) missense possibly damaging 0.94
R4850:Arap1 UTSW 7 101,047,998 (GRCm39) missense probably damaging 1.00
R4942:Arap1 UTSW 7 101,051,009 (GRCm39) missense possibly damaging 0.95
R5253:Arap1 UTSW 7 101,037,851 (GRCm39) missense probably benign 0.00
R5342:Arap1 UTSW 7 101,054,167 (GRCm39) missense probably benign 0.00
R5367:Arap1 UTSW 7 101,058,337 (GRCm39) missense probably damaging 0.99
R5397:Arap1 UTSW 7 101,034,119 (GRCm39) missense possibly damaging 0.95
R5968:Arap1 UTSW 7 101,043,945 (GRCm39) missense probably damaging 1.00
R6052:Arap1 UTSW 7 101,053,240 (GRCm39) missense probably damaging 1.00
R6574:Arap1 UTSW 7 101,053,208 (GRCm39) missense probably damaging 1.00
R6645:Arap1 UTSW 7 101,057,318 (GRCm39) missense possibly damaging 0.57
R7060:Arap1 UTSW 7 101,058,564 (GRCm39) splice site probably null
R7191:Arap1 UTSW 7 101,034,199 (GRCm39) missense probably benign 0.31
R7349:Arap1 UTSW 7 101,039,435 (GRCm39) missense possibly damaging 0.95
R7516:Arap1 UTSW 7 101,058,538 (GRCm39) missense probably benign 0.00
R7922:Arap1 UTSW 7 101,053,621 (GRCm39) nonsense probably null
R8034:Arap1 UTSW 7 101,043,980 (GRCm39) missense probably damaging 1.00
R8293:Arap1 UTSW 7 101,050,141 (GRCm39) missense probably benign
R8493:Arap1 UTSW 7 101,035,725 (GRCm39) nonsense probably null
R8810:Arap1 UTSW 7 101,053,585 (GRCm39) missense probably damaging 0.99
R8811:Arap1 UTSW 7 101,036,403 (GRCm39) missense probably damaging 1.00
R8928:Arap1 UTSW 7 101,057,324 (GRCm39) missense possibly damaging 0.52
R8930:Arap1 UTSW 7 101,057,324 (GRCm39) missense possibly damaging 0.52
R8931:Arap1 UTSW 7 101,057,324 (GRCm39) missense possibly damaging 0.52
R8941:Arap1 UTSW 7 101,057,324 (GRCm39) missense possibly damaging 0.52
R9014:Arap1 UTSW 7 101,053,540 (GRCm39) missense probably damaging 1.00
R9144:Arap1 UTSW 7 101,047,602 (GRCm39) missense probably damaging 1.00
R9164:Arap1 UTSW 7 101,041,090 (GRCm39) nonsense probably null
R9215:Arap1 UTSW 7 101,049,214 (GRCm39) missense probably benign 0.23
R9340:Arap1 UTSW 7 101,037,382 (GRCm39) missense probably damaging 1.00
R9519:Arap1 UTSW 7 101,043,946 (GRCm39) start gained probably benign
R9790:Arap1 UTSW 7 101,037,376 (GRCm39) missense probably benign 0.00
R9791:Arap1 UTSW 7 101,037,376 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCTATCCAAGGAGACAGCG -3'
(R):5'- GGAGGGAGTTAAACCACTCTTTAG -3'

Sequencing Primer
(F):5'- CAGCGAGAACCAAGTGCTG -3'
(R):5'- CTCTTTAGAGGGATCCTGGGCAC -3'
Posted On 2019-06-26