Incidental Mutation 'P0043:Chn1'
ID 7814
Institutional Source Beutler Lab
Gene Symbol Chn1
Ensembl Gene ENSMUSG00000056486
Gene Name chimerin 1
Synonyms ARHGAP2, 2900046J01Rik, 1700112L09Rik, alpha2 chimaerin, alpha1 chimaerin, 0710001E19Rik, 0610007I19Rik
MMRRC Submission 038291-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # P0043 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 73441004-73605690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73454509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 247 (V247E)
Ref Sequence ENSEMBL: ENSMUSP00000128847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070579] [ENSMUST00000102677] [ENSMUST00000112024] [ENSMUST00000136953] [ENSMUST00000139252] [ENSMUST00000166199] [ENSMUST00000154258] [ENSMUST00000180045] [ENSMUST00000229731]
AlphaFold Q91V57
Predicted Effect probably benign
Transcript: ENSMUST00000070579
AA Change: V56E

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000070301
Gene: ENSMUSG00000056486
AA Change: V56E

DomainStartEndE-ValueType
RhoGAP 30 207 3.41e-74 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102677
AA Change: V180E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099738
Gene: ENSMUSG00000056486
AA Change: V180E

DomainStartEndE-ValueType
C1 81 130 5.6e-14 SMART
RhoGAP 154 331 3.41e-74 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112024
AA Change: V305E

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107655
Gene: ENSMUSG00000056486
AA Change: V305E

DomainStartEndE-ValueType
SH2 47 126 7.63e-15 SMART
C1 206 255 5.6e-14 SMART
RhoGAP 279 456 3.41e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124450
Predicted Effect probably benign
Transcript: ENSMUST00000136953
AA Change: V80E

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000123551
Gene: ENSMUSG00000056486
AA Change: V80E

DomainStartEndE-ValueType
Pfam:C1_1 1 33 7.3e-10 PFAM
Pfam:RhoGAP 57 81 2.9e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139252
SMART Domains Protein: ENSMUSP00000123312
Gene: ENSMUSG00000056486

DomainStartEndE-ValueType
Pfam:SH2 49 87 1.6e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166199
AA Change: V247E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128847
Gene: ENSMUSG00000056486
AA Change: V247E

DomainStartEndE-ValueType
SH2 47 126 7.63e-15 SMART
RhoGAP 228 398 2.36e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154258
AA Change: V80E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000116417
Gene: ENSMUSG00000056486
AA Change: V80E

DomainStartEndE-ValueType
Pfam:C1_1 1 33 6.6e-10 PFAM
Pfam:RhoGAP 57 95 1.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180045
AA Change: V56E

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137106
Gene: ENSMUSG00000056486
AA Change: V56E

DomainStartEndE-ValueType
RhoGAP 30 207 3.41e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229731
AA Change: V56E

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231013
Meta Mutation Damage Score 0.5621 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 74.1%
  • 10x: 50.1%
  • 20x: 26.7%
Validation Efficiency 74% (145/195)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homologous for a null allele exhibit transient postnatal size reduction, abnormal gait and abnormal innervation of the spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Col28a1 T A 6: 8,168,152 (GRCm39) probably benign Het
Cxcl5 A G 5: 90,907,826 (GRCm39) I85M probably damaging Het
Fnip1 A G 11: 54,394,051 (GRCm39) E829G probably benign Het
Kctd18 G A 1: 58,006,722 (GRCm39) R43C probably damaging Het
Kidins220 T A 12: 25,058,155 (GRCm39) F629I probably damaging Het
Lamb1 T C 12: 31,328,620 (GRCm39) S195P probably damaging Het
Lrrc74b A T 16: 17,376,023 (GRCm39) probably benign Het
Mrpl30 A G 1: 37,937,259 (GRCm39) T133A probably benign Het
Mrps27 A G 13: 99,548,754 (GRCm39) T297A probably benign Het
Per1 G T 11: 68,992,869 (GRCm39) probably benign Het
Ptprq C A 10: 107,416,086 (GRCm39) M1737I probably benign Het
Ropn1l A C 15: 31,457,447 (GRCm39) probably benign Het
Sfrp4 A G 13: 19,807,765 (GRCm39) I55V probably benign Het
Spata31 G A 13: 65,068,820 (GRCm39) probably null Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Ttn A G 2: 76,628,358 (GRCm39) S12855P probably damaging Het
Zscan10 C T 17: 23,828,594 (GRCm39) R302* probably null Het
Other mutations in Chn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Chn1 APN 2 73,462,096 (GRCm39) missense probably damaging 1.00
R0107:Chn1 UTSW 2 73,445,028 (GRCm39) missense probably damaging 1.00
R0410:Chn1 UTSW 2 73,462,094 (GRCm39) nonsense probably null
R1496:Chn1 UTSW 2 73,509,951 (GRCm39) splice site probably benign
R1935:Chn1 UTSW 2 73,455,245 (GRCm39) missense probably damaging 1.00
R1939:Chn1 UTSW 2 73,455,245 (GRCm39) missense probably damaging 1.00
R1940:Chn1 UTSW 2 73,455,245 (GRCm39) missense probably damaging 1.00
R4457:Chn1 UTSW 2 73,443,427 (GRCm39) missense probably damaging 0.96
R5005:Chn1 UTSW 2 73,490,130 (GRCm39) missense possibly damaging 0.63
R5843:Chn1 UTSW 2 73,510,092 (GRCm39) missense probably benign 0.40
R6247:Chn1 UTSW 2 73,537,350 (GRCm39) missense possibly damaging 0.95
R6564:Chn1 UTSW 2 73,448,385 (GRCm39) missense probably damaging 1.00
R7371:Chn1 UTSW 2 73,510,234 (GRCm39) missense probably damaging 1.00
R8046:Chn1 UTSW 2 73,448,363 (GRCm39) missense probably damaging 1.00
R9072:Chn1 UTSW 2 73,443,430 (GRCm39) missense probably benign 0.38
R9222:Chn1 UTSW 2 73,443,499 (GRCm39) missense probably damaging 1.00
R9644:Chn1 UTSW 2 73,490,184 (GRCm39) missense probably benign 0.02
Posted On 2012-10-29