Incidental Mutation 'R6564:Chn1'
ID 522299
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 044688-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R6564 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 73441004-73605690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73448385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 203 (I203F)
Ref Sequence ENSEMBL: ENSMUSP00000099738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070579] [ENSMUST00000102677] [ENSMUST00000112024] [ENSMUST00000166199] [ENSMUST00000180045] [ENSMUST00000229731]
AlphaFold Q91V57
Predicted Effect probably damaging
Transcript: ENSMUST00000070579
AA Change: I79F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070301
Gene: ENSMUSG00000056486
AA Change: I79F

DomainStartEndE-ValueType
RhoGAP 30 207 3.41e-74 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102677
AA Change: I203F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099738
Gene: ENSMUSG00000056486
AA Change: I203F

DomainStartEndE-ValueType
C1 81 130 5.6e-14 SMART
RhoGAP 154 331 3.41e-74 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112024
AA Change: I328F

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107655
Gene: ENSMUSG00000056486
AA Change: I328F

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 noncoding transcript
Transcript: ENSMUST00000147420
Predicted Effect probably damaging
Transcript: ENSMUST00000166199
AA Change: I270F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128847
Gene: ENSMUSG00000056486
AA Change: I270F

DomainStartEndE-ValueType
SH2 47 126 7.63e-15 SMART
RhoGAP 228 398 2.36e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000180045
AA Change: I79F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137106
Gene: ENSMUSG00000056486
AA Change: I79F

DomainStartEndE-ValueType
RhoGAP 30 207 3.41e-74 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000229731
AA Change: I79F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231013
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.9%
Validation Efficiency 98% (56/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,622,613 (GRCm39) probably null Het
4931429L15Rik C A 9: 46,218,202 (GRCm39) D179Y probably damaging Het
Abca1 A T 4: 53,034,031 (GRCm39) L2233Q possibly damaging Het
Abca12 T A 1: 71,349,009 (GRCm39) E834V possibly damaging Het
Abcc9 T C 6: 142,548,834 (GRCm39) Y1318C probably damaging Het
Adam15 C A 3: 89,254,519 (GRCm39) R121L possibly damaging Het
Afdn T A 17: 14,116,351 (GRCm39) M1588K probably benign Het
Akap9 T C 5: 4,078,491 (GRCm39) S1849P probably damaging Het
Aoc1l1 T C 6: 48,954,509 (GRCm39) V549A probably benign Het
Bag6 T C 17: 35,359,347 (GRCm39) S213P probably damaging Het
Bpifb9a T C 2: 154,102,098 (GRCm39) V65A probably benign Het
Crnkl1 T A 2: 145,770,165 (GRCm39) E226V possibly damaging Het
Cspg4 A G 9: 56,797,442 (GRCm39) E1302G probably benign Het
Dnah5 G T 15: 28,367,891 (GRCm39) A2759S probably benign Het
Dtx1 T A 5: 120,833,082 (GRCm39) T119S probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Ezr C T 17: 7,010,246 (GRCm39) V268M probably damaging Het
Fbxl15 T C 19: 46,317,777 (GRCm39) V153A probably damaging Het
Fkbpl C A 17: 34,865,240 (GRCm39) A336E probably benign Het
Gsg1l2 A G 11: 67,677,330 (GRCm39) T200A possibly damaging Het
H2ax T C 9: 44,246,209 (GRCm39) Y51H probably damaging Het
Ifi213 A C 1: 173,422,862 (GRCm39) M1R probably null Het
Kcnt1 A C 2: 25,801,063 (GRCm39) D1045A probably benign Het
Kdm4a C A 4: 118,034,636 (GRCm39) A32S probably benign Het
Klkb1 A T 8: 45,726,671 (GRCm39) V444E probably damaging Het
Mccc1 T C 3: 36,030,825 (GRCm39) T414A probably damaging Het
Miga1 A C 3: 151,990,959 (GRCm39) N367K probably damaging Het
Mmp7 A G 9: 7,695,185 (GRCm39) D49G probably benign Het
Nlrp1a A G 11: 71,014,398 (GRCm39) L284P probably damaging Het
Or7g33 G A 9: 19,448,506 (GRCm39) T240I possibly damaging Het
Or9s15 T C 1: 92,524,285 (GRCm39) S15P probably benign Het
Pbld1 T A 10: 62,907,806 (GRCm39) I224N possibly damaging Het
Pih1d1 A T 7: 44,809,243 (GRCm39) R276W probably damaging Het
Plekhg1 G T 10: 3,914,153 (GRCm39) V1292L probably damaging Het
Prex2 A G 1: 11,171,285 (GRCm39) probably null Het
Rbm6 T C 9: 107,710,697 (GRCm39) Y498C probably damaging Het
Reps1 T A 10: 17,998,140 (GRCm39) probably null Het
Ruvbl1 T A 6: 88,456,208 (GRCm39) I154N possibly damaging Het
Slc4a5 T G 6: 83,257,042 (GRCm39) F616V possibly damaging Het
Spag5 A T 11: 78,206,401 (GRCm39) T798S probably damaging Het
Spam1 T A 6: 24,796,355 (GRCm39) I102K possibly damaging Het
Sptbn2 C A 19: 4,782,052 (GRCm39) F430L probably damaging Het
Svs3a T A 2: 164,131,270 (GRCm39) I21K probably damaging Het
Tet3 T A 6: 83,363,052 (GRCm39) I842L possibly damaging Het
Tlr2 T A 3: 83,745,002 (GRCm39) K360N probably benign Het
Tmem45b C G 9: 31,339,301 (GRCm39) W138S probably damaging Het
Tpgs2 T C 18: 25,291,344 (GRCm39) E40G probably damaging Het
Traj40 T C 14: 54,415,399 (GRCm39) probably benign Het
Trpm5 A G 7: 142,626,507 (GRCm39) S125P probably damaging Het
Ttc3 G T 16: 94,243,470 (GRCm39) C1158F probably damaging Het
Tubg1 T C 11: 101,011,715 (GRCm39) I74T probably damaging Het
Vav2 A T 2: 27,169,197 (GRCm39) probably null Het
Wbp4 G T 14: 79,704,868 (GRCm39) H201N probably damaging Het
Wdhd1 A G 14: 47,485,499 (GRCm39) S821P probably benign Het
Wsb2 A T 5: 117,508,625 (GRCm39) probably null Het
Zic5 A G 14: 122,696,833 (GRCm39) L594P unknown Het
Other mutations in Chn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Chn1 APN 2 73,462,096 (GRCm39) missense probably damaging 1.00
P0043:Chn1 UTSW 2 73,454,509 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- AAGTGCTTGCAGATACACAGAGC -3'
(R):5'- GACTTGTCCAGTCCCAATCC -3'

Sequencing Primer
(F):5'- CTGCAGGGGATAGACTTAAAAACCAC -3'
(R):5'- CCTCACAAACTTCTGTACAGTTAG -3'
Posted On 2018-06-06