Incidental Mutation 'R3808:Als2'
ID 275009
Institutional Source Beutler Lab
Gene Symbol Als2
Ensembl Gene ENSMUSG00000026024
Gene Name alsin Rho guanine nucleotide exchange factor
Synonyms Als2cr6, 3222402C23Rik, Alsin, 9430073A21Rik
MMRRC Submission 040765-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.767) question?
Stock # R3808 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 59202085-59276390 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59209609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1458 (S1458P)
Ref Sequence ENSEMBL: ENSMUSP00000125753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027178] [ENSMUST00000163058]
AlphaFold Q920R0
Predicted Effect probably benign
Transcript: ENSMUST00000027178
AA Change: S1458P

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027178
Gene: ENSMUSG00000026024
AA Change: S1458P

DomainStartEndE-ValueType
Pfam:RCC1_2 93 122 1.1e-9 PFAM
Pfam:RCC1 109 165 9.5e-11 PFAM
Pfam:RCC1 170 216 6.6e-11 PFAM
low complexity region 268 282 N/A INTRINSIC
low complexity region 465 483 N/A INTRINSIC
Pfam:RCC1 521 568 5.4e-13 PFAM
Pfam:RCC1_2 555 584 8.3e-12 PFAM
Pfam:RCC1 571 619 3.4e-11 PFAM
Pfam:RhoGEF 688 877 6.5e-10 PFAM
PH 895 1001 2.17e0 SMART
MORN 1041 1062 1.34e-5 SMART
MORN 1064 1085 1.95e-1 SMART
MORN 1092 1113 6.68e-6 SMART
MORN 1115 1136 9.39e0 SMART
MORN 1143 1164 1.49e1 SMART
MORN 1167 1188 1.13e1 SMART
MORN 1190 1211 2.28e0 SMART
MORN 1213 1235 5.95e1 SMART
low complexity region 1470 1483 N/A INTRINSIC
Pfam:VPS9 1546 1650 8.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163058
AA Change: S1458P

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125753
Gene: ENSMUSG00000026024
AA Change: S1458P

DomainStartEndE-ValueType
Pfam:RCC1_2 93 122 9.9e-10 PFAM
Pfam:RCC1 109 165 9.5e-12 PFAM
Pfam:RCC1 170 216 4.9e-12 PFAM
low complexity region 268 282 N/A INTRINSIC
low complexity region 465 483 N/A INTRINSIC
Pfam:RCC1 521 568 4.6e-14 PFAM
Pfam:RCC1_2 555 584 1.2e-11 PFAM
Pfam:RCC1 571 619 8.6e-11 PFAM
Pfam:RhoGEF 688 877 2.6e-10 PFAM
PH 895 1001 2.17e0 SMART
MORN 1041 1062 1.34e-5 SMART
MORN 1064 1085 1.95e-1 SMART
MORN 1092 1113 6.68e-6 SMART
MORN 1115 1136 9.39e0 SMART
MORN 1143 1164 1.49e1 SMART
MORN 1167 1188 1.13e1 SMART
MORN 1190 1211 2.28e0 SMART
MORN 1213 1235 5.95e1 SMART
low complexity region 1470 1483 N/A INTRINSIC
Pfam:VPS9 1546 1650 1e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190598
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency
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 an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired axonal transport, and mild neurolopathogical deficits including axonal degeneration in the corticospinal tract. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aldh3a2 G T 11: 61,149,623 (GRCm39) L248M probably damaging Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Arhgap5 A G 12: 52,613,970 (GRCm39) E192G possibly damaging Het
Atg2a A G 19: 6,302,846 (GRCm39) K1019R possibly damaging Het
Atp2b1 A G 10: 98,839,010 (GRCm39) K613E possibly damaging Het
Carm1 T C 9: 21,498,258 (GRCm39) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm39) Y417F probably damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Clptm1l A C 13: 73,760,573 (GRCm39) M319L probably benign Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Creb3l2 A G 6: 37,332,625 (GRCm39) S290P probably damaging Het
Dock4 T G 12: 40,722,809 (GRCm39) V305G probably damaging Het
Dtl A C 1: 191,280,466 (GRCm39) L356R probably damaging Het
Eftud2 A T 11: 102,732,289 (GRCm39) probably null Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Fat4 T G 3: 39,036,587 (GRCm39) V3413G possibly damaging Het
Fgfr2 T C 7: 129,801,578 (GRCm39) M218V probably benign Het
Grin2b A G 6: 135,900,269 (GRCm39) L204P probably damaging Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Lrp4 T A 2: 91,307,047 (GRCm39) D389E probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Nbea T C 3: 55,625,269 (GRCm39) N2274S probably benign Het
Nr3c2 G A 8: 77,635,343 (GRCm39) G148D probably damaging Het
Or10s1 A T 9: 39,985,605 (GRCm39) M5L probably benign Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Plin3 C A 17: 56,593,275 (GRCm39) A96S probably damaging Het
Pnck T A X: 72,700,550 (GRCm39) I288F probably damaging Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Prss43 A T 9: 110,656,840 (GRCm39) R115S probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rdh16f1 T A 10: 127,624,568 (GRCm39) D135E probably benign Het
Rdh16f1 G A 10: 127,624,569 (GRCm39) V136M probably damaging Het
Rgs12 A G 5: 35,189,698 (GRCm39) E702G probably damaging Het
Rnf213 A G 11: 119,370,384 (GRCm39) K4728E probably damaging Het
Ros1 T G 10: 51,996,944 (GRCm39) T1243P probably benign Het
Sall1 G A 8: 89,758,101 (GRCm39) Q668* probably null Het
Sbf2 C A 7: 110,088,487 (GRCm39) *45L probably null Het
Serpina3j A T 12: 104,286,086 (GRCm39) I414F probably benign Het
Sh2d3c T C 2: 32,636,108 (GRCm39) Y159H probably damaging Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc22a13 T C 9: 119,025,143 (GRCm39) T178A probably benign Het
Smchd1 A T 17: 71,736,536 (GRCm39) L588H probably damaging Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Vil1 T C 1: 74,466,772 (GRCm39) V654A probably benign Het
Vmn1r202 T C 13: 22,686,070 (GRCm39) T116A possibly damaging Het
Zfp267 T G 3: 36,219,792 (GRCm39) probably null Het
Zfp607a G A 7: 27,578,826 (GRCm39) R632H probably benign Het
Other mutations in Als2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Als2 APN 1 59,209,055 (GRCm39) nonsense probably null
IGL00924:Als2 APN 1 59,255,021 (GRCm39) missense probably benign 0.03
IGL00949:Als2 APN 1 59,254,731 (GRCm39) missense probably damaging 1.00
IGL00950:Als2 APN 1 59,254,541 (GRCm39) missense probably benign 0.01
IGL01090:Als2 APN 1 59,254,775 (GRCm39) missense possibly damaging 0.81
IGL01116:Als2 APN 1 59,225,163 (GRCm39) splice site probably benign
IGL02001:Als2 APN 1 59,219,347 (GRCm39) splice site probably benign
IGL02075:Als2 APN 1 59,246,945 (GRCm39) missense probably damaging 1.00
IGL02441:Als2 APN 1 59,254,631 (GRCm39) missense probably damaging 0.98
IGL02728:Als2 APN 1 59,235,506 (GRCm39) missense probably benign 0.00
IGL02740:Als2 APN 1 59,209,078 (GRCm39) missense probably benign 0.01
IGL02885:Als2 APN 1 59,206,650 (GRCm39) missense probably benign 0.30
IGL02896:Als2 APN 1 59,222,946 (GRCm39) missense probably benign 0.17
IGL02978:Als2 APN 1 59,254,324 (GRCm39) missense probably benign 0.32
IGL03032:Als2 APN 1 59,255,189 (GRCm39) splice site probably benign
IGL03065:Als2 APN 1 59,255,031 (GRCm39) missense probably benign
IGL03212:Als2 APN 1 59,242,085 (GRCm39) missense probably benign 0.00
IGL03226:Als2 APN 1 59,225,679 (GRCm39) missense probably benign 0.43
R0014:Als2 UTSW 1 59,250,547 (GRCm39) missense possibly damaging 0.53
R0243:Als2 UTSW 1 59,254,546 (GRCm39) missense probably benign
R0326:Als2 UTSW 1 59,219,742 (GRCm39) missense probably damaging 1.00
R0376:Als2 UTSW 1 59,254,724 (GRCm39) missense probably benign 0.00
R0605:Als2 UTSW 1 59,207,573 (GRCm39) missense probably benign 0.02
R1607:Als2 UTSW 1 59,219,306 (GRCm39) missense probably damaging 1.00
R1631:Als2 UTSW 1 59,257,226 (GRCm39) missense probably benign 0.00
R1657:Als2 UTSW 1 59,219,760 (GRCm39) missense probably damaging 1.00
R1763:Als2 UTSW 1 59,214,150 (GRCm39) missense probably benign
R1950:Als2 UTSW 1 59,224,760 (GRCm39) critical splice acceptor site probably null
R1970:Als2 UTSW 1 59,254,328 (GRCm39) missense probably benign 0.34
R2151:Als2 UTSW 1 59,246,948 (GRCm39) missense probably damaging 1.00
R2292:Als2 UTSW 1 59,226,544 (GRCm39) missense probably damaging 1.00
R2513:Als2 UTSW 1 59,254,276 (GRCm39) missense probably benign 0.00
R2849:Als2 UTSW 1 59,245,697 (GRCm39) missense probably damaging 0.97
R2869:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2869:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2870:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2870:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2872:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2872:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2873:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R3054:Als2 UTSW 1 59,254,653 (GRCm39) missense probably damaging 1.00
R3081:Als2 UTSW 1 59,226,508 (GRCm39) missense probably damaging 1.00
R3176:Als2 UTSW 1 59,209,167 (GRCm39) missense possibly damaging 0.88
R3276:Als2 UTSW 1 59,209,167 (GRCm39) missense possibly damaging 0.88
R3801:Als2 UTSW 1 59,206,358 (GRCm39) missense probably damaging 1.00
R3803:Als2 UTSW 1 59,206,358 (GRCm39) missense probably damaging 1.00
R3884:Als2 UTSW 1 59,224,727 (GRCm39) missense probably damaging 0.99
R4012:Als2 UTSW 1 59,226,575 (GRCm39) missense probably benign 0.09
R4033:Als2 UTSW 1 59,235,400 (GRCm39) missense probably benign
R4201:Als2 UTSW 1 59,219,313 (GRCm39) missense possibly damaging 0.77
R4321:Als2 UTSW 1 59,206,613 (GRCm39) splice site probably benign
R4707:Als2 UTSW 1 59,254,472 (GRCm39) missense probably benign
R4784:Als2 UTSW 1 59,254,472 (GRCm39) missense probably benign
R4785:Als2 UTSW 1 59,254,472 (GRCm39) missense probably benign
R4991:Als2 UTSW 1 59,246,927 (GRCm39) missense probably benign 0.10
R5068:Als2 UTSW 1 59,250,433 (GRCm39) missense probably benign 0.13
R5110:Als2 UTSW 1 59,224,600 (GRCm39) missense probably damaging 0.98
R5141:Als2 UTSW 1 59,209,611 (GRCm39) missense possibly damaging 0.80
R5394:Als2 UTSW 1 59,214,105 (GRCm39) missense probably benign 0.06
R5621:Als2 UTSW 1 59,231,049 (GRCm39) missense probably benign 0.33
R5685:Als2 UTSW 1 59,218,250 (GRCm39) missense possibly damaging 0.73
R5987:Als2 UTSW 1 59,245,746 (GRCm39) missense probably damaging 1.00
R6012:Als2 UTSW 1 59,224,374 (GRCm39) missense probably damaging 1.00
R6118:Als2 UTSW 1 59,242,228 (GRCm39) missense possibly damaging 0.62
R6222:Als2 UTSW 1 59,219,284 (GRCm39) missense probably benign 0.04
R6367:Als2 UTSW 1 59,238,299 (GRCm39) missense probably benign 0.04
R6394:Als2 UTSW 1 59,206,356 (GRCm39) missense probably damaging 0.99
R6866:Als2 UTSW 1 59,250,292 (GRCm39) missense probably damaging 1.00
R6965:Als2 UTSW 1 59,209,716 (GRCm39) missense possibly damaging 0.70
R7038:Als2 UTSW 1 59,206,673 (GRCm39) missense possibly damaging 0.94
R7178:Als2 UTSW 1 59,246,971 (GRCm39) missense probably damaging 0.96
R7494:Als2 UTSW 1 59,222,325 (GRCm39) splice site probably null
R7541:Als2 UTSW 1 59,206,775 (GRCm39) splice site probably null
R7601:Als2 UTSW 1 59,209,161 (GRCm39) missense probably benign 0.17
R8380:Als2 UTSW 1 59,250,467 (GRCm39) missense probably benign
R8478:Als2 UTSW 1 59,225,175 (GRCm39) missense probably damaging 0.96
R8492:Als2 UTSW 1 59,250,503 (GRCm39) missense probably damaging 0.98
R9048:Als2 UTSW 1 59,225,670 (GRCm39) missense possibly damaging 0.81
R9090:Als2 UTSW 1 59,242,189 (GRCm39) missense probably benign 0.01
R9128:Als2 UTSW 1 59,219,709 (GRCm39) missense probably benign 0.00
R9206:Als2 UTSW 1 59,224,406 (GRCm39) missense probably damaging 1.00
R9271:Als2 UTSW 1 59,242,189 (GRCm39) missense probably benign 0.01
R9430:Als2 UTSW 1 59,231,198 (GRCm39) missense probably benign 0.00
R9455:Als2 UTSW 1 59,219,296 (GRCm39) missense probably damaging 1.00
R9482:Als2 UTSW 1 59,231,109 (GRCm39) missense probably damaging 1.00
R9494:Als2 UTSW 1 59,206,664 (GRCm39) missense probably damaging 1.00
R9544:Als2 UTSW 1 59,250,468 (GRCm39) missense probably benign 0.00
R9796:Als2 UTSW 1 59,209,601 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GTGGCTACTCCCTCCCTGAC -3'
(R):5'- GTTTGGAAACATTGTATGTCATCATT -3'

Sequencing Primer
(F):5'- TGACAGCAGCTAGTACCACGAG -3'
(R):5'- AGGGGTCCTGATCCTCCTATAG -3'
Posted On 2015-04-02