Incidental Mutation 'R1295:Arhgap29'
ID 158048
Institutional Source Beutler Lab
Gene Symbol Arhgap29
Ensembl Gene ENSMUSG00000039831
Gene Name Rho GTPase activating protein 29
Synonyms C76601, Parg1, B130017I01Rik, 6720461J18Rik
MMRRC Submission 039361-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1295 (G1)
Quality Score 207
Status Validated
Chromosome 3
Chromosomal Location 121746752-121810326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121786044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 275 (H275R)
Ref Sequence ENSEMBL: ENSMUSP00000142945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037958] [ENSMUST00000196479] [ENSMUST00000196904] [ENSMUST00000197155]
AlphaFold Q8CGF1
Predicted Effect probably benign
Transcript: ENSMUST00000037958
AA Change: H275R

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: H275R

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
AA Change: H211R

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000142817
Gene: ENSMUSG00000039831
AA Change: H211R

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 probably benign
Transcript: ENSMUST00000197155
AA Change: H275R

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831
AA Change: H275R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198594
Predicted Effect probably benign
Transcript: ENSMUST00000198914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199081
Meta Mutation Damage Score 0.0610 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 93.1%
  • 20x: 82.0%
Validation Efficiency 98% (81/83)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 A G 9: 121,737,783 (GRCm39) S53G possibly damaging Het
Adgrb1 T A 15: 74,421,888 (GRCm39) L886Q probably damaging Het
Adprhl1 G A 8: 13,298,624 (GRCm39) T102M probably damaging Het
Akap6 A C 12: 52,933,812 (GRCm39) K435Q probably damaging Het
Aldh7a1 T C 18: 56,680,022 (GRCm39) probably null Het
Amfr T C 8: 94,701,432 (GRCm39) R507G probably benign Het
Ap1m1 T A 8: 73,005,719 (GRCm39) probably null Het
Arhgef17 C A 7: 100,530,476 (GRCm39) E428* probably null Het
Atm A T 9: 53,367,830 (GRCm39) V2431E probably damaging Het
Atn1 G T 6: 124,724,750 (GRCm39) P161Q unknown Het
Atp13a2 T C 4: 140,721,113 (GRCm39) S99P probably damaging Het
Ccar1 C A 10: 62,619,661 (GRCm39) probably null Het
Cdk18 T C 1: 132,047,698 (GRCm39) probably benign Het
Cep85 A G 4: 133,894,711 (GRCm39) W32R probably damaging Het
Col5a3 A G 9: 20,719,714 (GRCm39) F215S unknown Het
Decr1 T C 4: 15,919,207 (GRCm39) N312S possibly damaging Het
Diaph3 A T 14: 87,244,835 (GRCm39) W178R probably damaging Het
Dync2h1 A G 9: 7,075,752 (GRCm39) probably benign Het
Ehd3 C A 17: 74,135,181 (GRCm39) D352E probably damaging Het
Enpp6 T G 8: 47,518,535 (GRCm39) I221S probably benign Het
Fam186a T C 15: 99,837,670 (GRCm39) probably benign Het
Gm5435 G T 12: 82,542,558 (GRCm39) noncoding transcript Het
Gpr22 A C 12: 31,759,513 (GRCm39) I203S probably benign Het
Gpr61 A G 3: 108,057,797 (GRCm39) V288A possibly damaging Het
Grik3 G A 4: 125,598,357 (GRCm39) probably benign Het
Gstcd T C 3: 132,711,389 (GRCm39) N431D probably damaging Het
H1f5 T C 13: 21,964,169 (GRCm39) S186G probably benign Het
Haao T A 17: 84,146,267 (GRCm39) Q69L probably benign Het
Ift140 G T 17: 25,307,907 (GRCm39) probably null Het
Ikbke A G 1: 131,197,963 (GRCm39) V381A probably benign Het
Ing1 A C 8: 11,611,501 (GRCm39) I38L probably benign Het
Ing1 T A 8: 11,611,502 (GRCm39) I38N probably damaging Het
Itga4 A G 2: 79,153,033 (GRCm39) M907V possibly damaging Het
Kcnk12 C T 17: 88,053,801 (GRCm39) G287D probably damaging Het
Kmt2e A C 5: 23,707,402 (GRCm39) H1655P probably damaging Het
Mbtd1 A G 11: 93,801,185 (GRCm39) Y122C probably damaging Het
Mif-ps9 T A 19: 56,743,766 (GRCm39) noncoding transcript Het
Mslnl T C 17: 25,962,214 (GRCm39) L204P probably damaging Het
Muc6 T C 7: 141,238,144 (GRCm39) E112G probably benign Het
Nav3 T A 10: 109,527,963 (GRCm39) D2240V probably damaging Het
Ndufaf3 T C 9: 108,443,892 (GRCm39) T9A probably damaging Het
Numb C A 12: 83,842,935 (GRCm39) probably benign Het
Prodh2 T C 7: 30,193,514 (GRCm39) V79A probably damaging Het
Psmb2 A G 4: 126,580,825 (GRCm39) Y73C probably damaging Het
Rmnd5a G A 6: 71,375,439 (GRCm39) L80F probably benign Het
Rnf19a G T 15: 36,244,247 (GRCm39) Y604* probably null Het
Ros1 T A 10: 51,964,028 (GRCm39) E1744V possibly damaging Het
Rpusd2 T C 2: 118,867,408 (GRCm39) F219L probably benign Het
Sall2 T C 14: 52,551,182 (GRCm39) N671S probably damaging Het
Sele T A 1: 163,878,379 (GRCm39) S239R probably damaging Het
Serpina3b T C 12: 104,097,138 (GRCm39) F140L probably damaging Het
Stxbp1 A T 2: 32,684,648 (GRCm39) S594T probably benign Het
Sufu G A 19: 46,443,159 (GRCm39) probably benign Het
Tbx2 A G 11: 85,725,592 (GRCm39) E181G probably damaging Het
Thumpd2 A G 17: 81,363,317 (GRCm39) V50A probably damaging Het
Tlcd4 A G 3: 121,000,940 (GRCm39) V231A probably benign Het
Ttn C A 2: 76,573,589 (GRCm39) R17441L probably damaging Het
Usp34 A G 11: 23,334,477 (GRCm39) Y1157C probably damaging Het
Vmn1r9 T C 6: 57,048,522 (GRCm39) V199A probably damaging Het
Vmn2r6 A G 3: 64,445,694 (GRCm39) F677S probably damaging Het
Vmn2r84 C T 10: 130,225,008 (GRCm39) A501T probably benign Het
Wapl C T 14: 34,446,726 (GRCm39) P605S probably damaging Het
Zfp598 A G 17: 24,898,623 (GRCm39) N474S probably benign Het
Zfyve26 A G 12: 79,321,694 (GRCm39) L975P probably damaging Het
Zp3r C T 1: 130,519,181 (GRCm39) G255D probably damaging 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
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
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'- GACTTCCCAGTCCATTCACAGGAAAG -3'
(R):5'- TTGGATAAACAGGCCAGTGGCG -3'

Sequencing Primer
(F):5'- CACAGGAAAGAACATAATTGTTGACC -3'
(R):5'- CTGTTGCTGCTTCCAAAGG -3'
Posted On 2014-02-18