Incidental Mutation 'R1403:Arhgap29'
ID 188597
Institutional Source Beutler Lab
Gene Symbol Arhgap29
Ensembl Gene ENSMUSG00000039831
Gene Name Rho GTPase activating protein 29
Synonyms C76601, Parg1, B130017I01Rik, 6720461J18Rik
MMRRC Submission 039465-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1403 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 121746752-121810326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121767578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 7 (K7E)
Ref Sequence ENSEMBL: ENSMUSP00000044624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037958] [ENSMUST00000196479] [ENSMUST00000196904] [ENSMUST00000196984] [ENSMUST00000197155]
AlphaFold Q8CGF1
Predicted Effect probably damaging
Transcript: ENSMUST00000037958
AA Change: K7E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: K7E

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
PDB:3QWE|A 193 469 5e-41 PDB
Blast:RhoGAP 412 595 9e-84 BLAST
C1 613 659 2.48e-6 SMART
RhoGAP 684 885 1.92e-68 SMART
low complexity region 947 961 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196479
SMART Domains Protein: ENSMUSP00000142817
Gene: ENSMUSG00000039831

DomainStartEndE-ValueType
PDB:3QWE|A 129 271 1e-28 PDB
Blast:FCH 133 220 1e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000196904
Predicted Effect silent
Transcript: ENSMUST00000196984
Predicted Effect probably damaging
Transcript: ENSMUST00000197155
AA Change: K7E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831
AA Change: K7E

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
PDB:3QWE|A 193 469 8e-42 PDB
Blast:RhoGAP 412 595 2e-87 BLAST
C1 613 659 2.48e-6 SMART
RhoGAP 684 780 1.14e-6 SMART
Meta Mutation Damage Score 0.0623 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 94% (51/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,059,253 (GRCm39) probably benign Het
AC238840.3 T G 7: 38,567,345 (GRCm39) I28L probably benign Het
Acsf2 G T 11: 94,453,700 (GRCm39) N420K probably benign Het
Adam26a A T 8: 44,022,229 (GRCm39) C420* probably null Het
Afap1l1 T C 18: 61,874,909 (GRCm39) Y424C probably damaging Het
Agl A G 3: 116,576,246 (GRCm39) V553A probably benign Het
Akr7a5 T A 4: 139,045,434 (GRCm39) M325K probably damaging Het
Akt3 C T 1: 176,958,676 (GRCm39) probably benign Het
Aldh7a1 C A 18: 56,692,341 (GRCm39) E87* probably null Het
Brca2 T A 5: 150,466,114 (GRCm39) D1959E probably benign Het
Cdc42se2 A G 11: 54,611,192 (GRCm39) probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Chil5 G T 3: 105,925,409 (GRCm39) Q171K probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dhrs7c A T 11: 67,702,476 (GRCm39) I155F probably damaging Het
Dip2c A G 13: 9,603,300 (GRCm39) probably null Het
Ell T A 8: 71,044,138 (GRCm39) probably benign Het
Fam124b T C 1: 80,191,056 (GRCm39) Y109C possibly damaging Het
Gak T A 5: 108,739,011 (GRCm39) K156M probably damaging Het
Gm9797 C A 10: 11,485,294 (GRCm39) noncoding transcript Het
Got1l1 C G 8: 27,690,745 (GRCm39) probably null Het
Grm1 T C 10: 10,955,879 (GRCm39) D135G probably benign Het
Hrh3 T G 2: 179,744,547 (GRCm39) D131A probably damaging Het
Itpr1 A T 6: 108,366,514 (GRCm39) Q979L probably null Het
Kdm7a C A 6: 39,128,187 (GRCm39) probably benign Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Lingo2 A T 4: 35,709,420 (GRCm39) C187S possibly damaging Het
Lrp1 T A 10: 127,417,760 (GRCm39) probably null Het
Ltbp4 T C 7: 27,028,464 (GRCm39) N266S unknown Het
Mgam G A 6: 40,643,815 (GRCm39) S581N possibly damaging Het
Mrgpra9 T A 7: 46,885,386 (GRCm39) I94L probably benign Het
Msantd4 A T 9: 4,384,023 (GRCm39) I115F probably benign Het
Mterf3 A G 13: 67,077,944 (GRCm39) probably benign Het
Neurl1a C A 19: 47,242,150 (GRCm39) N414K probably damaging Het
Nfkbiz A G 16: 55,636,833 (GRCm39) probably benign Het
Nrxn1 A C 17: 90,950,481 (GRCm39) L566R probably benign Het
Nsmce1 A G 7: 125,067,027 (GRCm39) probably benign Het
Or5p59 T A 7: 107,702,822 (GRCm39) I102N probably benign Het
Prl7d1 A T 13: 27,893,180 (GRCm39) F243I possibly damaging Het
Rbm27 T C 18: 42,450,746 (GRCm39) S509P probably damaging Het
Rnf126 C T 10: 79,596,702 (GRCm39) A239T probably benign Het
Rnf44 C T 13: 54,829,821 (GRCm39) E306K probably damaging Het
Rp1 T C 1: 4,416,520 (GRCm39) R1531G possibly damaging Het
Sf3b4 A G 3: 96,080,953 (GRCm39) probably null Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Syt15 C A 14: 33,943,159 (GRCm39) probably benign Het
Vcan T A 13: 89,836,603 (GRCm39) E2980D probably benign Het
Vps13b A G 15: 35,709,268 (GRCm39) probably benign Het
Vwa2 C T 19: 56,869,570 (GRCm39) P2S unknown Het
Wdr77 G A 3: 105,874,573 (GRCm39) V322I possibly damaging Het
Zfp12 C A 5: 143,230,535 (GRCm39) Y287* probably null Het
Zfp937 T A 2: 150,080,868 (GRCm39) Y299* probably null Het
Other mutations in Arhgap29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Arhgap29 APN 3 121,796,961 (GRCm39) nonsense probably null
IGL01121:Arhgap29 APN 3 121,803,512 (GRCm39) missense probably damaging 1.00
IGL01622:Arhgap29 APN 3 121,767,773 (GRCm39) splice site probably benign
IGL01623:Arhgap29 APN 3 121,767,773 (GRCm39) splice site probably benign
IGL01995:Arhgap29 APN 3 121,807,977 (GRCm39) missense probably benign 0.00
IGL02120:Arhgap29 APN 3 121,797,906 (GRCm39) missense probably benign 0.05
IGL02554:Arhgap29 APN 3 121,786,173 (GRCm39) unclassified probably benign
IGL02931:Arhgap29 APN 3 121,786,509 (GRCm39) missense probably benign
IGL02937:Arhgap29 APN 3 121,767,698 (GRCm39) missense probably damaging 0.99
PIT4362001:Arhgap29 UTSW 3 121,796,861 (GRCm39) missense probably benign 0.42
R0022:Arhgap29 UTSW 3 121,782,586 (GRCm39) missense possibly damaging 0.61
R0574:Arhgap29 UTSW 3 121,801,274 (GRCm39) missense probably benign 0.01
R0601:Arhgap29 UTSW 3 121,784,759 (GRCm39) missense probably damaging 1.00
R0639:Arhgap29 UTSW 3 121,801,290 (GRCm39) missense probably damaging 1.00
R0881:Arhgap29 UTSW 3 121,808,328 (GRCm39) missense probably damaging 1.00
R1232:Arhgap29 UTSW 3 121,796,989 (GRCm39) missense probably damaging 1.00
R1295:Arhgap29 UTSW 3 121,786,044 (GRCm39) missense probably benign 0.27
R1296:Arhgap29 UTSW 3 121,786,044 (GRCm39) missense probably benign 0.27
R1403:Arhgap29 UTSW 3 121,767,578 (GRCm39) missense probably damaging 1.00
R1470:Arhgap29 UTSW 3 121,785,968 (GRCm39) unclassified probably benign
R1710:Arhgap29 UTSW 3 121,801,729 (GRCm39) missense probably damaging 1.00
R1878:Arhgap29 UTSW 3 121,805,020 (GRCm39) missense probably damaging 1.00
R2051:Arhgap29 UTSW 3 121,775,509 (GRCm39) missense probably benign 0.01
R2112:Arhgap29 UTSW 3 121,805,210 (GRCm39) missense probably benign 0.03
R2188:Arhgap29 UTSW 3 121,784,658 (GRCm39) missense probably damaging 1.00
R2240:Arhgap29 UTSW 3 121,805,102 (GRCm39) missense probably benign 0.12
R2420:Arhgap29 UTSW 3 121,767,629 (GRCm39) missense probably benign
R3618:Arhgap29 UTSW 3 121,782,176 (GRCm39) missense possibly damaging 0.62
R4673:Arhgap29 UTSW 3 121,808,620 (GRCm39) missense probably damaging 1.00
R4717:Arhgap29 UTSW 3 121,803,607 (GRCm39) missense possibly damaging 0.82
R5028:Arhgap29 UTSW 3 121,803,709 (GRCm39) critical splice donor site probably null
R5043:Arhgap29 UTSW 3 121,767,653 (GRCm39) missense probably benign 0.00
R5045:Arhgap29 UTSW 3 121,796,244 (GRCm39) missense probably benign 0.28
R5463:Arhgap29 UTSW 3 121,782,200 (GRCm39) missense possibly damaging 0.94
R5495:Arhgap29 UTSW 3 121,808,578 (GRCm39) missense probably damaging 1.00
R5743:Arhgap29 UTSW 3 121,775,560 (GRCm39) missense probably damaging 1.00
R5791:Arhgap29 UTSW 3 121,807,894 (GRCm39) missense probably damaging 0.98
R5896:Arhgap29 UTSW 3 121,805,736 (GRCm39) missense possibly damaging 0.78
R6083:Arhgap29 UTSW 3 121,786,397 (GRCm39) missense probably benign 0.00
R6355:Arhgap29 UTSW 3 121,804,907 (GRCm39) missense possibly damaging 0.46
R6451:Arhgap29 UTSW 3 121,787,230 (GRCm39) missense probably damaging 1.00
R6528:Arhgap29 UTSW 3 121,808,351 (GRCm39) missense probably benign 0.13
R7239:Arhgap29 UTSW 3 121,782,599 (GRCm39) missense probably benign 0.16
R7669:Arhgap29 UTSW 3 121,786,461 (GRCm39) missense probably damaging 1.00
R7807:Arhgap29 UTSW 3 121,807,981 (GRCm39) missense probably benign 0.01
R8045:Arhgap29 UTSW 3 121,801,211 (GRCm39) synonymous silent
R8048:Arhgap29 UTSW 3 121,786,550 (GRCm39) missense probably damaging 1.00
R8165:Arhgap29 UTSW 3 121,782,222 (GRCm39) missense probably damaging 0.98
R9001:Arhgap29 UTSW 3 121,775,523 (GRCm39) missense probably benign 0.03
R9032:Arhgap29 UTSW 3 121,808,249 (GRCm39) missense probably benign
R9060:Arhgap29 UTSW 3 121,783,973 (GRCm39) missense probably damaging 0.99
R9085:Arhgap29 UTSW 3 121,808,249 (GRCm39) missense probably benign
R9717:Arhgap29 UTSW 3 121,797,920 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGAAAGCTCAGGCTCTTTGCATTG -3'
(R):5'- TGCTCTTGTCATGGGACACACATTG -3'

Sequencing Primer
(F):5'- ATCATGGAGTTGTCAGACACTCG -3'
(R):5'- GTTGACAAACCTGAAAGAATAGCTTC -3'
Posted On 2014-05-09