Incidental Mutation 'R9128:Als2'
ID 693374
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 068927-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.767) question?
Stock # R9128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 59202085-59276390 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59219709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1202 (M1202T)
Ref Sequence ENSEMBL: ENSMUSP00000027178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027178] [ENSMUST00000163058]
AlphaFold Q920R0
Predicted Effect probably benign
Transcript: ENSMUST00000027178
AA Change: M1202T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027178
Gene: ENSMUSG00000026024
AA Change: M1202T

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: M1202T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125753
Gene: ENSMUSG00000026024
AA Change: M1202T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,838,352 (GRCm39) V542A possibly damaging Het
Abhd8 G T 8: 71,914,389 (GRCm39) R80S probably benign Het
Actc1 T C 2: 113,880,946 (GRCm39) Y93C possibly damaging Het
Actn4 G T 7: 28,593,929 (GRCm39) D859E possibly damaging Het
Adcy2 C T 13: 68,773,927 (GRCm39) G1039R probably damaging Het
Aste1 T A 9: 105,273,908 (GRCm39) Y49* probably null Het
Atp8b4 T C 2: 126,234,750 (GRCm39) D422G probably benign Het
Bag6 T A 17: 35,363,688 (GRCm39) S791T probably damaging Het
Bivm T A 1: 44,167,949 (GRCm39) W222R probably null Het
Bod1l A C 5: 41,946,266 (GRCm39) V3003G probably benign Het
Bsn T C 9: 107,993,349 (GRCm39) D801G probably benign Het
Ccdc14 G A 16: 34,527,159 (GRCm39) D403N probably damaging Het
Cenpj T A 14: 56,780,319 (GRCm39) E964V probably damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Clca3a1 G A 3: 144,463,795 (GRCm39) R161W probably damaging Het
Dcxr A T 11: 120,617,372 (GRCm39) V57E Het
Dnah17 T G 11: 117,937,004 (GRCm39) N3400T possibly damaging Het
Dnaja3 C T 16: 4,520,164 (GRCm39) T444I possibly damaging Het
Dop1a T C 9: 86,395,208 (GRCm39) S772P probably benign Het
Ednrb T C 14: 104,080,528 (GRCm39) N129D probably damaging Het
Ep300 T A 15: 81,533,946 (GRCm39) M2001K unknown Het
Fam3b A G 16: 97,302,200 (GRCm39) I8T probably benign Het
Fam98c A T 7: 28,854,115 (GRCm39) S85T Het
Fat1 G A 8: 45,462,878 (GRCm39) V1232I probably benign Het
Fzd3 T A 14: 65,449,626 (GRCm39) Y484F probably damaging Het
H3f3a T C 1: 180,630,660 (GRCm39) I131M possibly damaging Het
Ifi206 A T 1: 173,299,022 (GRCm39) D861E unknown Het
Ihh T C 1: 74,985,498 (GRCm39) Y329C probably damaging Het
Jak2 A G 19: 29,278,462 (GRCm39) N909D probably damaging Het
Krtap12-1 C A 10: 77,556,623 (GRCm39) C55* probably null Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Mreg T C 1: 72,231,216 (GRCm39) T81A probably benign Het
Muc16 T C 9: 18,558,878 (GRCm39) T2472A unknown Het
Nanos3 A T 8: 84,903,080 (GRCm39) D27E probably benign Het
Nox3 T G 17: 3,720,136 (GRCm39) S350R probably damaging Het
Or4m1 A G 14: 50,558,214 (GRCm39) V26A probably benign Het
Or8k18 T A 2: 86,086,022 (GRCm39) N5I probably damaging Het
Pafah2 C T 4: 134,147,281 (GRCm39) T310M probably damaging Het
Pals1 A G 12: 78,843,832 (GRCm39) E12G probably benign Het
Pianp A G 6: 124,977,658 (GRCm39) I185V probably benign Het
Pja2 T C 17: 64,616,470 (GRCm39) T142A probably benign Het
Poln G A 5: 34,171,658 (GRCm39) P747L probably damaging Het
Pramel25 T A 4: 143,520,178 (GRCm39) S141T probably benign Het
Rdx T A 9: 51,976,179 (GRCm39) L39* probably null Het
Rnf146 A G 10: 29,223,539 (GRCm39) W116R probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Sec24d A G 3: 123,087,810 (GRCm39) T224A probably benign Het
Serpinb9 T A 13: 33,190,686 (GRCm39) I54K possibly damaging Het
Slc25a13 A T 6: 6,109,987 (GRCm39) L324Q probably null Het
Slc9c1 T C 16: 45,400,490 (GRCm39) L700P probably benign Het
Snta1 T C 2: 154,222,856 (GRCm39) K289R probably benign Het
Sppl2a A G 2: 126,765,393 (GRCm39) F243S probably damaging Het
Syne1 T C 10: 5,058,556 (GRCm39) E7319G probably benign Het
Taf5l G A 8: 124,730,014 (GRCm39) P225L probably benign Het
Tet2 A T 3: 133,175,374 (GRCm39) N1324K possibly damaging Het
Usp5 A T 6: 124,800,414 (GRCm39) probably null Het
Vmn2r124 G T 17: 18,294,439 (GRCm39) R842L probably benign Het
Vps16 A G 2: 130,266,319 (GRCm39) D2G possibly damaging Het
Vwf T C 6: 125,619,693 (GRCm39) L1457P Het
Xpo1 A G 11: 23,235,058 (GRCm39) T576A probably damaging Het
Zdhhc6 A T 19: 55,301,680 (GRCm39) Y100* probably null Het
Zfp534 T A 4: 147,760,082 (GRCm39) R196* probably null Het
Zfp710 C T 7: 79,731,122 (GRCm39) R100W probably damaging Het
Zfp750 T C 11: 121,404,674 (GRCm39) K67R probably benign Het
Zmynd10 T C 9: 107,426,326 (GRCm39) S158P Het
Zmynd8 A T 2: 165,700,058 (GRCm39) M1K probably null 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
R3808:Als2 UTSW 1 59,209,609 (GRCm39) missense probably benign 0.08
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
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'- CCCACCATCTGCAAAGTAGG -3'
(R):5'- ATGCAGGTCCCTGTAAGAGGAG -3'

Sequencing Primer
(F):5'- TTCCATGAGTTCCAAGCCAGGTAG -3'
(R):5'- GTCCCTGTAAGAGGAGTTTTTCTCAC -3'
Posted On 2022-01-20