Incidental Mutation 'R0107:Chn1'
ID 33301
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 038393-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R0107 (G1)
Quality Score 213
Status Validated (trace)
Chromosome 2
Chromosomal Location 73441004-73605690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73445028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 338 (Y338H)
Ref Sequence ENSEMBL: ENSMUSP00000128847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070579] [ENSMUST00000102677] [ENSMUST00000112024] [ENSMUST00000166199] [ENSMUST00000180045] [ENSMUST00000229731]
AlphaFold Q91V57
Predicted Effect possibly damaging
Transcript: ENSMUST00000070579
AA Change: Y147H

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070301
Gene: ENSMUSG00000056486
AA Change: Y147H

DomainStartEndE-ValueType
RhoGAP 30 207 3.41e-74 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102677
AA Change: Y271H

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099738
Gene: ENSMUSG00000056486
AA Change: Y271H

DomainStartEndE-ValueType
C1 81 130 5.6e-14 SMART
RhoGAP 154 331 3.41e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112024
AA Change: Y396H

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107655
Gene: ENSMUSG00000056486
AA Change: Y396H

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: Y338H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128847
Gene: ENSMUSG00000056486
AA Change: Y338H

DomainStartEndE-ValueType
SH2 47 126 7.63e-15 SMART
RhoGAP 228 398 2.36e-59 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000180045
AA Change: Y147H

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137106
Gene: ENSMUSG00000056486
AA Change: Y147H

DomainStartEndE-ValueType
RhoGAP 30 207 3.41e-74 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000229731
AA Change: Y147H

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231013
Meta Mutation Damage Score 0.6616 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 99% (71/72)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,737 (GRCm39) L397I possibly damaging Het
Abca1 A G 4: 53,080,834 (GRCm39) V825A probably benign Het
Adamts7 T C 9: 90,062,773 (GRCm39) I409T possibly damaging Het
Adck1 T C 12: 88,413,426 (GRCm39) W253R possibly damaging Het
Afg3l2 A G 18: 67,564,836 (GRCm39) F213L probably damaging Het
Ankle2 T C 5: 110,400,893 (GRCm39) V743A probably benign Het
Ankrd34c C T 9: 89,611,537 (GRCm39) R268H probably benign Het
Arb2a A G 13: 78,050,933 (GRCm39) D145G probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccdc7b T G 8: 129,904,678 (GRCm39) probably benign Het
Cd320 A T 17: 34,067,059 (GRCm39) M169L probably benign Het
Chuk T A 19: 44,085,358 (GRCm39) S263C probably damaging Het
Dennd4b C A 3: 90,180,043 (GRCm39) P663T possibly damaging Het
Dnajc24 T G 2: 105,832,259 (GRCm39) probably benign Het
Fbn2 A G 18: 58,189,275 (GRCm39) V1617A probably benign Het
Fermt2 T C 14: 45,702,279 (GRCm39) N502D probably damaging Het
Frrs1 A T 3: 116,690,365 (GRCm39) I3F probably damaging Het
Fut1 C A 7: 45,268,270 (GRCm39) Q20K possibly damaging Het
Gbf1 T C 19: 46,273,267 (GRCm39) V1709A probably benign Het
Gfra3 G T 18: 34,844,359 (GRCm39) H60Q probably benign Het
Gm10750 T A 2: 148,857,973 (GRCm39) M93L unknown Het
Hmcn1 T A 1: 150,462,766 (GRCm39) I5124L probably benign Het
Hps3 A C 3: 20,084,960 (GRCm39) L76R probably damaging Het
Ifrd1 T A 12: 40,264,080 (GRCm39) Q105L probably damaging Het
Irs2 A T 8: 11,054,691 (GRCm39) V1247E probably damaging Het
Itgal T C 7: 126,927,731 (GRCm39) probably benign Het
Ivns1abp A T 1: 151,237,321 (GRCm39) N495I probably damaging Het
Kank1 T A 19: 25,407,730 (GRCm39) probably benign Het
Mroh8 T C 2: 157,067,388 (GRCm39) Q657R probably benign Het
Mthfd1l T C 10: 3,991,838 (GRCm39) Y597H probably benign Het
Myom1 G A 17: 71,384,360 (GRCm39) V692I probably damaging Het
Or13a17 A T 7: 140,271,258 (GRCm39) M147L probably benign Het
Or1j18 T G 2: 36,624,730 (GRCm39) Y132* probably null Het
Or7g20 A G 9: 18,946,629 (GRCm39) D70G probably damaging Het
Palmd A T 3: 116,717,725 (GRCm39) H257Q probably damaging Het
Pcnx2 A T 8: 126,480,325 (GRCm39) V1994D probably benign Het
Phkb G A 8: 86,743,560 (GRCm39) G553S probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Ptprn A T 1: 75,232,356 (GRCm39) L453M probably damaging Het
Ptprz1 T A 6: 23,000,569 (GRCm39) D886E probably damaging Het
Rcn1 T A 2: 105,225,126 (GRCm39) I110F possibly damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Slc6a19 A G 13: 73,832,176 (GRCm39) Y467H possibly damaging Het
Slc9c1 T A 16: 45,395,783 (GRCm39) D611E probably benign Het
Slitrk6 T C 14: 110,989,395 (GRCm39) E104G possibly damaging Het
Spag17 A T 3: 99,958,103 (GRCm39) K920N possibly damaging Het
St3gal5 A G 6: 72,119,133 (GRCm39) S82G probably benign Het
Tlk1 T C 2: 70,544,333 (GRCm39) *767W probably null Het
Tln2 A G 9: 67,277,988 (GRCm39) V342A probably damaging Het
Tmem104 T A 11: 115,093,006 (GRCm39) M132K probably damaging Het
Tmem184c A G 8: 78,323,702 (GRCm39) S387P possibly damaging Het
Tmtc1 A G 6: 148,327,411 (GRCm39) V34A possibly damaging Het
Trim46 A G 3: 89,143,640 (GRCm39) F596S probably damaging Het
Unc79 T A 12: 103,100,784 (GRCm39) D1870E possibly damaging Het
Utp20 T C 10: 88,614,253 (GRCm39) T1234A probably benign Het
Vmn1r31 T A 6: 58,449,728 (GRCm39) T46S probably benign Het
Vps13a A T 19: 16,669,188 (GRCm39) L1341Q probably benign Het
Wdr72 A T 9: 74,117,715 (GRCm39) D821V probably damaging Het
Zfhx4 T C 3: 5,464,042 (GRCm39) L1400P probably damaging Het
Zfp217 T A 2: 169,956,794 (GRCm39) K735* probably null Het
Zfp235 A G 7: 23,836,541 (GRCm39) Q29R probably damaging Het
Zfp628 A G 7: 4,923,167 (GRCm39) Y463C probably damaging Het
Zkscan4 A G 13: 21,668,751 (GRCm39) T401A possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- AGCATCCTTTCCCAACTGGCAC -3'
(R):5'- CTGCATGTGATAGAGCTGCATACCC -3'

Sequencing Primer
(F):5'- GGCACAATTTCTCAAAAGACAGTG -3'
(R):5'- GAGCTGCATACCCAATATCTTGTG -3'
Posted On 2013-05-09