Incidental Mutation 'R0048:Raph1'
ID 16220
Institutional Source Beutler Lab
Gene Symbol Raph1
Ensembl Gene ENSMUSG00000026014
Gene Name Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
Synonyms C730009O10Rik, lamellipodin, 9430025M21Rik, Lpd
MMRRC Submission 038342-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R0048 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 60521451-60606263 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60539764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 423 (K423E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027168] [ENSMUST00000090293] [ENSMUST00000140485]
AlphaFold F2Z3U3
Predicted Effect probably benign
Transcript: ENSMUST00000027168
AA Change: K423E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000027168
Gene: ENSMUSG00000026014
AA Change: K423E

DomainStartEndE-ValueType
low complexity region 201 218 N/A INTRINSIC
low complexity region 294 308 N/A INTRINSIC
RA 322 408 1.63e-13 SMART
PH 450 560 3.38e-11 SMART
low complexity region 581 604 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090293
AA Change: K423E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000087763
Gene: ENSMUSG00000026014
AA Change: K423E

DomainStartEndE-ValueType
low complexity region 201 218 N/A INTRINSIC
low complexity region 294 308 N/A INTRINSIC
RA 322 408 1.63e-13 SMART
PH 450 560 3.38e-11 SMART
low complexity region 581 604 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127573
AA Change: K423E

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000114596
Gene: ENSMUSG00000026014
AA Change: K423E

DomainStartEndE-ValueType
low complexity region 201 218 N/A INTRINSIC
coiled coil region 295 320 N/A INTRINSIC
RA 322 408 1e-15 SMART
PH 450 560 1.6e-13 SMART
low complexity region 581 604 N/A INTRINSIC
low complexity region 656 661 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000140485
AA Change: K371E
SMART Domains Protein: ENSMUSP00000121023
Gene: ENSMUSG00000026014
AA Change: K371E

DomainStartEndE-ValueType
low complexity region 201 218 N/A INTRINSIC
low complexity region 245 256 N/A INTRINSIC
RA 270 356 1.63e-13 SMART
PH 398 508 3.38e-11 SMART
low complexity region 529 552 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189383
Meta Mutation Damage Score 0.0618 question?
Coding Region Coverage
  • 1x: 90.1%
  • 3x: 87.7%
  • 10x: 82.5%
  • 20x: 75.5%
Validation Efficiency 94% (92/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a conditional allele activated in all cells exhibit background sensitive neonatal or postnatal lethality, decreased body size, belly spotting and decreased melanocyte numbers in the trunk. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,140,563 (GRCm39) I299T probably benign Het
Ankrd12 A G 17: 66,291,798 (GRCm39) S1212P probably damaging Het
Ankrd50 A G 3: 38,537,198 (GRCm39) S52P probably benign Het
Aox1 A G 1: 58,112,371 (GRCm39) E715G probably damaging Het
Arid1b T C 17: 5,364,309 (GRCm39) probably null Het
Brca1 A G 11: 101,415,803 (GRCm39) V777A possibly damaging Het
Btaf1 G T 19: 36,980,924 (GRCm39) A1582S probably benign Het
Cblif G A 19: 11,727,120 (GRCm39) V110M possibly damaging Het
Ccdc184 G A 15: 98,066,341 (GRCm39) A49T probably damaging Het
Cd109 A C 9: 78,587,303 (GRCm39) Y657S possibly damaging Het
Cfap53 A T 18: 74,432,244 (GRCm39) Y44F probably benign Het
Cped1 T A 6: 22,119,601 (GRCm39) N353K probably benign Het
Dcaf10 T G 4: 45,374,262 (GRCm39) Y562* probably null Het
Eno4 T C 19: 58,952,970 (GRCm39) M328T possibly damaging Het
Etv3l T C 3: 87,462,275 (GRCm39) noncoding transcript Het
Eya2 T A 2: 165,557,931 (GRCm39) Y176N probably damaging Het
Fat2 G T 11: 55,200,865 (GRCm39) H736Q probably benign Het
Fgfr2 A T 7: 129,782,218 (GRCm39) probably benign Het
Grhl1 A T 12: 24,662,150 (GRCm39) probably benign Het
H60b T A 10: 22,163,130 (GRCm39) M235K probably benign Het
Hal T A 10: 93,334,853 (GRCm39) Y395N probably damaging Het
Hmcn2 T C 2: 31,318,249 (GRCm39) S3865P possibly damaging Het
Inpp5j A G 11: 3,451,417 (GRCm39) V463A probably damaging Het
Iqgap3 A T 3: 88,023,256 (GRCm39) T516S probably benign Het
Itpr2 T C 6: 146,133,789 (GRCm39) probably null Het
Jmjd4 C A 11: 59,344,778 (GRCm39) H244N probably benign Het
Klkb1 G A 8: 45,742,233 (GRCm39) probably benign Het
Loxhd1 A T 18: 77,496,474 (GRCm39) Y1578F probably damaging Het
Lrp2 A T 2: 69,295,971 (GRCm39) D3379E probably damaging Het
Lrrfip1 C T 1: 91,021,369 (GRCm39) probably benign Het
Mblac1 A G 5: 138,192,727 (GRCm39) Y23C probably damaging Het
Mfsd12 G A 10: 81,198,648 (GRCm39) V380I possibly damaging Het
Mroh9 G A 1: 162,890,056 (GRCm39) T227M probably damaging Het
Mtor C T 4: 148,623,338 (GRCm39) Q2063* probably null Het
Ncstn A G 1: 171,897,528 (GRCm39) probably benign Het
Nek9 T C 12: 85,348,673 (GRCm39) T954A probably benign Het
Nlrc5 A T 8: 95,201,284 (GRCm39) Y126F possibly damaging Het
Nr1d1 A G 11: 98,661,304 (GRCm39) S321P probably benign Het
Or13c3 C A 4: 52,856,196 (GRCm39) A106S probably damaging Het
Pkn2 T C 3: 142,516,588 (GRCm39) I513V probably damaging Het
Pls1 T C 9: 95,669,116 (GRCm39) E35G probably damaging Het
Polr3a A G 14: 24,519,323 (GRCm39) probably benign Het
Ptgfr A G 3: 151,540,728 (GRCm39) V260A possibly damaging Het
Rabgap1l A G 1: 160,454,939 (GRCm39) probably benign Het
Rbm27 A G 18: 42,431,529 (GRCm39) D112G probably benign Het
Rbm46 A T 3: 82,771,537 (GRCm39) S359R probably damaging Het
Rhobtb3 A T 13: 76,050,364 (GRCm39) *100R probably null Het
Ryr2 T C 13: 11,610,670 (GRCm39) E4052G probably damaging Het
Sart3 G T 5: 113,893,458 (GRCm39) D346E possibly damaging Het
Sgsm1 A G 5: 113,416,616 (GRCm39) F629S probably damaging Het
Siglec1 T C 2: 130,915,317 (GRCm39) T1425A possibly damaging Het
Slc12a2 A T 18: 58,048,594 (GRCm39) probably benign Het
Slc38a10 G T 11: 120,001,138 (GRCm39) P561T probably benign Het
Slc45a4 A G 15: 73,477,285 (GRCm39) probably benign Het
Snx25 A T 8: 46,558,146 (GRCm39) probably benign Het
Son T A 16: 91,455,865 (GRCm39) H1537Q possibly damaging Het
Synpo2l A T 14: 20,716,340 (GRCm39) probably benign Het
Tarbp1 A G 8: 127,174,269 (GRCm39) Y846H probably damaging Het
Tgfb1 T A 7: 25,393,779 (GRCm39) probably benign Het
Tigd2 C A 6: 59,188,369 (GRCm39) T412K possibly damaging Het
Umodl1 A T 17: 31,187,451 (GRCm39) N172Y probably damaging Het
Urah C T 7: 140,416,665 (GRCm39) T46I probably damaging Het
Usp8 C T 2: 126,579,809 (GRCm39) P353L probably damaging Het
Vamp2 A G 11: 68,980,585 (GRCm39) D51G possibly damaging Het
Vps13a A T 19: 16,653,504 (GRCm39) V1959E probably damaging Het
Wdr76 C T 2: 121,365,900 (GRCm39) probably benign Het
Zbtb38 C T 9: 96,569,729 (GRCm39) V452M probably damaging Het
Zbtb41 A G 1: 139,369,572 (GRCm39) K650E probably damaging Het
Zfp532 A G 18: 65,777,404 (GRCm39) Y887C probably damaging Het
Other mutations in Raph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02300:Raph1 APN 1 60,565,106 (GRCm39) missense possibly damaging 0.76
IGL02900:Raph1 APN 1 60,542,022 (GRCm39) missense probably damaging 1.00
FR4976:Raph1 UTSW 1 60,528,426 (GRCm39) intron probably benign
R0048:Raph1 UTSW 1 60,539,764 (GRCm39) missense probably benign 0.03
R0049:Raph1 UTSW 1 60,565,058 (GRCm39) missense probably benign 0.03
R0049:Raph1 UTSW 1 60,565,058 (GRCm39) missense probably benign 0.03
R0227:Raph1 UTSW 1 60,565,136 (GRCm39) missense probably benign 0.00
R0387:Raph1 UTSW 1 60,549,655 (GRCm39) intron probably benign
R0607:Raph1 UTSW 1 60,565,028 (GRCm39) missense probably damaging 1.00
R1740:Raph1 UTSW 1 60,558,183 (GRCm39) nonsense probably null
R2274:Raph1 UTSW 1 60,537,659 (GRCm39) missense probably damaging 1.00
R3108:Raph1 UTSW 1 60,532,545 (GRCm39) missense probably benign 0.01
R3977:Raph1 UTSW 1 60,537,682 (GRCm39) missense probably benign 0.39
R4260:Raph1 UTSW 1 60,542,124 (GRCm39) missense possibly damaging 0.94
R4487:Raph1 UTSW 1 60,542,028 (GRCm39) missense possibly damaging 0.68
R4721:Raph1 UTSW 1 60,542,160 (GRCm39) unclassified probably benign
R4782:Raph1 UTSW 1 60,528,273 (GRCm39) missense probably damaging 1.00
R5027:Raph1 UTSW 1 60,535,436 (GRCm39) missense probably damaging 1.00
R5037:Raph1 UTSW 1 60,535,381 (GRCm39) splice site probably null
R5106:Raph1 UTSW 1 60,572,459 (GRCm39) missense probably damaging 1.00
R5506:Raph1 UTSW 1 60,532,657 (GRCm39) intron probably benign
R5510:Raph1 UTSW 1 60,562,105 (GRCm39) unclassified probably benign
R5587:Raph1 UTSW 1 60,537,632 (GRCm39) missense probably damaging 1.00
R5591:Raph1 UTSW 1 60,540,905 (GRCm39) unclassified probably benign
R5619:Raph1 UTSW 1 60,529,414 (GRCm39) intron probably benign
R5776:Raph1 UTSW 1 60,529,315 (GRCm39) intron probably benign
R5802:Raph1 UTSW 1 60,527,832 (GRCm39) missense possibly damaging 0.81
R6742:Raph1 UTSW 1 60,564,879 (GRCm39) missense probably damaging 0.97
R7122:Raph1 UTSW 1 60,565,136 (GRCm39) missense probably benign 0.10
R7219:Raph1 UTSW 1 60,542,032 (GRCm39) missense unknown
R7251:Raph1 UTSW 1 60,529,027 (GRCm39) missense unknown
R7254:Raph1 UTSW 1 60,538,767 (GRCm39) missense unknown
R7732:Raph1 UTSW 1 60,572,447 (GRCm39) missense possibly damaging 0.82
R7979:Raph1 UTSW 1 60,565,148 (GRCm39) missense probably benign 0.00
R7986:Raph1 UTSW 1 60,535,445 (GRCm39) missense
R8167:Raph1 UTSW 1 60,529,270 (GRCm39) missense unknown
R8168:Raph1 UTSW 1 60,538,779 (GRCm39) missense unknown
R8399:Raph1 UTSW 1 60,528,477 (GRCm39) missense unknown
R9036:Raph1 UTSW 1 60,542,124 (GRCm39) missense unknown
R9146:Raph1 UTSW 1 60,558,137 (GRCm39) critical splice donor site probably null
R9338:Raph1 UTSW 1 60,529,300 (GRCm39) missense unknown
R9381:Raph1 UTSW 1 60,540,959 (GRCm39) missense unknown
R9383:Raph1 UTSW 1 60,564,829 (GRCm39) missense unknown
R9399:Raph1 UTSW 1 60,565,154 (GRCm39) missense probably benign
R9454:Raph1 UTSW 1 60,528,753 (GRCm39) missense unknown
R9561:Raph1 UTSW 1 60,564,887 (GRCm39) missense possibly damaging 0.49
RF018:Raph1 UTSW 1 60,528,426 (GRCm39) intron probably benign
RF022:Raph1 UTSW 1 60,528,426 (GRCm39) intron probably benign
Posted On 2013-01-08