Incidental Mutation 'R4926:Arfip2'
ID 379035
Institutional Source Beutler Lab
Gene Symbol Arfip2
Ensembl Gene ENSMUSG00000030881
Gene Name ADP-ribosylation factor interacting protein 2
Synonyms 2310002N04Rik, Arfaptin 2
MMRRC Submission 042527-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4926 (G1)
Quality Score 198
Status Validated
Chromosome 7
Chromosomal Location 105283410-105289623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 105287151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 138 (R138S)
Ref Sequence ENSEMBL: ENSMUSP00000118616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033171] [ENSMUST00000057525] [ENSMUST00000058333] [ENSMUST00000084782] [ENSMUST00000106780] [ENSMUST00000133519] [ENSMUST00000131446] [ENSMUST00000106785] [ENSMUST00000106783] [ENSMUST00000106784] [ENSMUST00000106791] [ENSMUST00000106786] [ENSMUST00000106789] [ENSMUST00000137931] [ENSMUST00000209550] [ENSMUST00000142874] [ENSMUST00000209588] [ENSMUST00000142363] [ENSMUST00000210911] [ENSMUST00000211054] [ENSMUST00000210350] [ENSMUST00000140577] [ENSMUST00000151193] [ENSMUST00000209445] [ENSMUST00000210312] [ENSMUST00000149819] [ENSMUST00000147044] [ENSMUST00000157028] [ENSMUST00000150479] [ENSMUST00000153371]
AlphaFold Q8K221
Predicted Effect probably benign
Transcript: ENSMUST00000033171
SMART Domains Protein: ENSMUSP00000033171
Gene: ENSMUSG00000030881

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057525
SMART Domains Protein: ENSMUSP00000053384
Gene: ENSMUSG00000036989

DomainStartEndE-ValueType
RING 22 62 6.43e-8 SMART
BBOX 110 151 7.54e-14 SMART
BBC 158 284 2.55e-42 SMART
IG_FLMN 321 421 1.06e-31 SMART
Pfam:NHL 486 513 2.5e-9 PFAM
Pfam:NHL 533 560 1.9e-9 PFAM
Pfam:NHL 575 602 5.5e-8 PFAM
Pfam:NHL 622 649 1e-10 PFAM
Pfam:NHL 669 696 1.8e-12 PFAM
Pfam:NHL 713 740 1.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058333
SMART Domains Protein: ENSMUSP00000057061
Gene: ENSMUSG00000089847

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 2 67 8.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082963
Predicted Effect probably benign
Transcript: ENSMUST00000084782
AA Change: R138S

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000081840
Gene: ENSMUSG00000030881
AA Change: R138S

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
Arfaptin 89 316 1.72e-123 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106780
SMART Domains Protein: ENSMUSP00000102392
Gene: ENSMUSG00000089847

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 2 67 8.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133519
AA Change: R138S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121649
Gene: ENSMUSG00000030881
AA Change: R138S

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
Arfaptin 89 209 5.49e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131446
AA Change: R138S

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000120387
Gene: ENSMUSG00000030881
AA Change: R138S

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
Arfaptin 89 316 1.72e-123 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127853
Predicted Effect probably benign
Transcript: ENSMUST00000106785
SMART Domains Protein: ENSMUSP00000102397
Gene: ENSMUSG00000110234

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 2 67 3.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106783
SMART Domains Protein: ENSMUSP00000102395
Gene: ENSMUSG00000089847

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 2 67 8.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106784
Predicted Effect probably benign
Transcript: ENSMUST00000106791
SMART Domains Protein: ENSMUSP00000102403
Gene: ENSMUSG00000036989

DomainStartEndE-ValueType
RING 22 62 6.43e-8 SMART
BBOX 110 151 7.54e-14 SMART
BBC 158 284 2.55e-42 SMART
IG_FLMN 321 421 1.06e-31 SMART
Pfam:NHL 486 513 3.4e-8 PFAM
Pfam:NHL 533 560 7.6e-10 PFAM
Pfam:NHL 575 602 4.4e-7 PFAM
Pfam:NHL 622 649 7.6e-10 PFAM
Pfam:NHL 669 696 2.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106786
SMART Domains Protein: ENSMUSP00000102398
Gene: ENSMUSG00000110234

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 3 66 3.6e-18 PFAM
low complexity region 89 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106789
SMART Domains Protein: ENSMUSP00000102401
Gene: ENSMUSG00000036989

DomainStartEndE-ValueType
RING 22 62 6.43e-8 SMART
BBOX 110 151 7.54e-14 SMART
BBC 158 284 2.55e-42 SMART
IG_FLMN 321 421 1.06e-31 SMART
Pfam:NHL 486 513 1.8e-8 PFAM
Pfam:NHL 533 560 3.9e-10 PFAM
Pfam:NHL 575 602 2.3e-7 PFAM
Pfam:NHL 622 649 3.9e-10 PFAM
Pfam:NHL 669 696 2.2e-12 PFAM
Pfam:NHL 713 740 6.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142173
Predicted Effect probably damaging
Transcript: ENSMUST00000137931
AA Change: R138S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118616
Gene: ENSMUSG00000030881
AA Change: R138S

DomainStartEndE-ValueType
low complexity region 52 61 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
Pfam:Arfaptin 89 153 1.1e-11 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000209870
AA Change: R79S
Predicted Effect probably benign
Transcript: ENSMUST00000209550
AA Change: R134S

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000142874
Predicted Effect probably benign
Transcript: ENSMUST00000209588
Predicted Effect probably benign
Transcript: ENSMUST00000142363
Predicted Effect probably benign
Transcript: ENSMUST00000210911
Predicted Effect probably benign
Transcript: ENSMUST00000211054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140385
Predicted Effect probably benign
Transcript: ENSMUST00000210350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140882
Predicted Effect probably benign
Transcript: ENSMUST00000140577
Predicted Effect probably benign
Transcript: ENSMUST00000210893
Predicted Effect probably benign
Transcript: ENSMUST00000151193
Predicted Effect probably benign
Transcript: ENSMUST00000209445
Predicted Effect probably benign
Transcript: ENSMUST00000210312
Predicted Effect probably benign
Transcript: ENSMUST00000149819
Predicted Effect probably benign
Transcript: ENSMUST00000147044
SMART Domains Protein: ENSMUSP00000114822
Gene: ENSMUSG00000036989

DomainStartEndE-ValueType
RING 22 62 6.43e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000157028
Predicted Effect probably benign
Transcript: ENSMUST00000150479
Predicted Effect probably benign
Transcript: ENSMUST00000153371
SMART Domains Protein: ENSMUSP00000119910
Gene: ENSMUSG00000036989

DomainStartEndE-ValueType
RING 22 62 6.43e-8 SMART
BBOX 110 157 3.55e-10 SMART
Blast:BBC 164 199 9e-15 BLAST
Meta Mutation Damage Score 0.2047 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (87/88)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,272,498 (GRCm39) D136V probably damaging Het
Ankrd17 G A 5: 90,447,891 (GRCm39) R217W probably damaging Het
Ankrd23 A T 1: 36,571,068 (GRCm39) H102Q probably damaging Het
Arhgap27 A T 11: 103,229,949 (GRCm39) probably null Het
Atg2a T C 19: 6,307,563 (GRCm39) L1499P probably damaging Het
Bnc2 A G 4: 84,194,416 (GRCm39) S110P probably damaging Het
Ccdc171 T C 4: 83,476,829 (GRCm39) probably benign Het
Ccdc7a A G 8: 129,706,535 (GRCm39) probably benign Het
Chd5 T C 4: 152,467,768 (GRCm39) S1689P probably benign Het
Corin A G 5: 72,529,525 (GRCm39) C212R probably damaging Het
Cyp2c65 A G 19: 39,049,597 (GRCm39) I42V probably benign Het
Cyp3a25 G A 5: 145,928,266 (GRCm39) R260C probably damaging Het
Dock6 T C 9: 21,757,087 (GRCm39) Y116C probably damaging Het
Eif3a A G 19: 60,751,656 (GRCm39) probably benign Het
Epop T C 11: 97,519,143 (GRCm39) D322G probably damaging Het
Eps8l3 T A 3: 107,798,004 (GRCm39) probably benign Het
Exph5 T C 9: 53,287,925 (GRCm39) S1669P possibly damaging Het
Faah A T 4: 115,856,823 (GRCm39) probably benign Het
Fanca A G 8: 124,030,724 (GRCm39) C453R probably benign Het
Fcgbp T A 7: 27,785,660 (GRCm39) C366S probably damaging Het
Fmn2 A G 1: 174,329,981 (GRCm39) T124A unknown Het
Foxi3 C T 6: 70,933,996 (GRCm39) S161L probably damaging Het
Foxo3 A T 10: 42,073,020 (GRCm39) V499E probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gbgt1 T C 2: 28,393,182 (GRCm39) V90A probably damaging Het
Gm839 A C 6: 89,189,581 (GRCm39) noncoding transcript Het
Gtf3c2 T C 5: 31,326,467 (GRCm39) E348G possibly damaging Het
Hnrnpm G T 17: 33,868,775 (GRCm39) R551S probably damaging Het
Hspa1l A G 17: 35,197,199 (GRCm39) T413A possibly damaging Het
Hspg2 T C 4: 137,269,841 (GRCm39) Y2297H probably damaging Het
Ighv1-81 T A 12: 115,884,093 (GRCm39) I53L probably benign Het
Kcnj11 C T 7: 45,748,544 (GRCm39) V260I probably benign Het
Krt84 A G 15: 101,438,689 (GRCm39) V266A probably benign Het
Lgals3bp T C 11: 118,284,781 (GRCm39) Y266C probably damaging Het
Lrrc41 T C 4: 115,946,521 (GRCm39) V412A possibly damaging Het
Map4k4 A T 1: 40,056,385 (GRCm39) E1023D probably damaging Het
Mark3 T A 12: 111,584,758 (GRCm39) L118* probably null Het
Mrgpra9 T A 7: 46,884,759 (GRCm39) T303S possibly damaging Het
Mterf4 T C 1: 93,232,647 (GRCm39) E68G probably benign Het
Nckap5 A C 1: 126,456,378 (GRCm39) probably benign Het
Nox3 T A 17: 3,720,169 (GRCm39) T339S probably damaging Het
Nrip2 A C 6: 128,385,337 (GRCm39) H256P probably benign Het
Oas1d T C 5: 121,053,831 (GRCm39) V97A probably benign Het
Obox2 T A 7: 15,131,102 (GRCm39) probably null Het
Opa1 T C 16: 29,467,791 (GRCm39) F989S possibly damaging Het
Or10g9 T C 9: 39,912,319 (GRCm39) probably null Het
Padi1 T A 4: 140,552,158 (GRCm39) I429F probably damaging Het
Paics A G 5: 77,109,051 (GRCm39) D163G probably damaging Het
Pik3c2b G T 1: 133,027,364 (GRCm39) E1288* probably null Het
Prdm16 A T 4: 154,426,009 (GRCm39) V593D possibly damaging Het
Prpf39 A G 12: 65,090,830 (GRCm39) I165M possibly damaging Het
Pth2r A G 1: 65,361,143 (GRCm39) T26A probably benign Het
Ptpn21 T C 12: 98,681,454 (GRCm39) probably null Het
Rab44 C T 17: 29,358,529 (GRCm39) A239V probably benign Het
Rtcb T C 10: 85,791,600 (GRCm39) N52S probably benign Het
Sapcd2 T A 2: 25,263,578 (GRCm39) probably null Het
Scaf11 T C 15: 96,316,123 (GRCm39) E1147G possibly damaging Het
Selenoo T C 15: 88,983,881 (GRCm39) Y595H probably damaging Het
Slc2a5 G T 4: 150,205,199 (GRCm39) E3* probably null Het
Snw1 A G 12: 87,499,428 (GRCm39) V391A probably benign Het
Sorbs2 A G 8: 46,249,254 (GRCm39) K755R probably benign Het
Sorbs3 G T 14: 70,424,394 (GRCm39) P513T probably damaging Het
Sowaha T A 11: 53,370,337 (GRCm39) E133V possibly damaging Het
Srsf5 T C 12: 80,994,075 (GRCm39) probably benign Het
St8sia5 T A 18: 77,342,478 (GRCm39) M396K possibly damaging Het
Tcp11l1 T C 2: 104,512,130 (GRCm39) I501V probably benign Het
Tert A G 13: 73,796,508 (GRCm39) K1080E possibly damaging Het
Tescl T A 7: 24,033,323 (GRCm39) M1L possibly damaging Het
Thop1 T A 10: 80,909,201 (GRCm39) probably null Het
Tmtc4 T C 14: 123,210,618 (GRCm39) H80R probably damaging Het
Toe1 C T 4: 116,661,729 (GRCm39) S480N probably damaging Het
Trap1 C A 16: 3,863,352 (GRCm39) V557F probably benign Het
Trim30d T C 7: 104,132,564 (GRCm39) E91G probably benign Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Ttll8 C A 15: 88,798,368 (GRCm39) G789V probably damaging Het
Ulk4 A G 9: 121,087,798 (GRCm39) F298S probably benign Het
Wwc1 C T 11: 35,780,227 (GRCm39) A243T probably benign Het
Zfp248 A C 6: 118,406,787 (GRCm39) H267Q possibly damaging Het
Zfyve26 T A 12: 79,321,785 (GRCm39) M945L probably benign Het
Zup1 T C 10: 33,825,434 (GRCm39) D16G probably damaging Het
Other mutations in Arfip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02105:Arfip2 APN 7 105,288,590 (GRCm39) missense probably damaging 1.00
IGL03192:Arfip2 APN 7 105,287,150 (GRCm39) missense probably damaging 1.00
IGL03299:Arfip2 APN 7 105,287,150 (GRCm39) missense probably damaging 1.00
R0096:Arfip2 UTSW 7 105,287,437 (GRCm39) missense probably damaging 1.00
R0121:Arfip2 UTSW 7 105,285,578 (GRCm39) missense probably damaging 1.00
R0130:Arfip2 UTSW 7 105,288,205 (GRCm39) unclassified probably benign
R0152:Arfip2 UTSW 7 105,286,430 (GRCm39) missense probably damaging 1.00
R0317:Arfip2 UTSW 7 105,286,430 (GRCm39) missense probably damaging 1.00
R2172:Arfip2 UTSW 7 105,287,195 (GRCm39) missense probably damaging 1.00
R4419:Arfip2 UTSW 7 105,288,270 (GRCm39) missense probably damaging 1.00
R5394:Arfip2 UTSW 7 105,286,183 (GRCm39) nonsense probably null
R5637:Arfip2 UTSW 7 105,286,370 (GRCm39) missense probably damaging 1.00
R8967:Arfip2 UTSW 7 105,286,341 (GRCm39) missense probably damaging 1.00
R9562:Arfip2 UTSW 7 105,286,079 (GRCm39) missense possibly damaging 0.68
Z1088:Arfip2 UTSW 7 105,286,449 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAACCCTTAGGCTGCCTC -3'
(R):5'- CTTTGCTATGACTAAGAGAACGGG -3'

Sequencing Primer
(F):5'- CCTCCATAGGTGAGTGATGC -3'
(R):5'- ATCAGAGAGATTTGGCCG -3'
Posted On 2016-04-15