Incidental Mutation 'R0107:Chn1'
ID33301
Institutional Source Beutler Lab
Gene Symbol Chn1
Ensembl Gene ENSMUSG00000056486
Gene Namechimerin 1
Synonymsalpha2 chimaerin, 0610007I19Rik, 2900046J01Rik, 1700112L09Rik, 0710001E19Rik, alpha1 chimaerin, ARHGAP2
MMRRC Submission 038393-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.465) question?
Stock #R0107 (G1)
Quality Score213
Status Validated (trace)
Chromosome2
Chromosomal Location73610660-73775346 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73614684 bp
ZygosityHeterozygous
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]
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
Abca1 A G 4: 53,080,834 V825A probably benign Het
Adamts7 T C 9: 90,180,720 I409T possibly damaging Het
Adck1 T C 12: 88,446,656 W253R possibly damaging Het
Afg3l2 A G 18: 67,431,766 F213L probably damaging Het
Ankle2 T C 5: 110,253,027 V743A probably benign Het
Ankrd34c C T 9: 89,729,484 R268H probably benign Het
Bcl2 G A 1: 106,712,562 R107C probably damaging Het
Ccdc7b T G 8: 129,178,197 probably benign Het
Cd320 A T 17: 33,848,085 M169L probably benign Het
Chuk T A 19: 44,096,919 S263C probably damaging Het
Dennd4b C A 3: 90,272,736 P663T possibly damaging Het
Dnajc24 T G 2: 106,001,914 probably benign Het
Fam172a A G 13: 77,902,814 D145G probably damaging Het
Fbn2 A G 18: 58,056,203 V1617A probably benign Het
Fermt2 T C 14: 45,464,822 N502D probably damaging Het
Frrs1 A T 3: 116,896,716 I3F probably damaging Het
Fut1 C A 7: 45,618,846 Q20K possibly damaging Het
Gbf1 T C 19: 46,284,828 V1709A probably benign Het
Gfra3 G T 18: 34,711,306 H60Q probably benign Het
Gm10750 T A 2: 149,016,053 M93L unknown Het
Gm5538 T A 3: 59,752,316 L397I possibly damaging Het
Hmcn1 T A 1: 150,587,015 I5124L probably benign Het
Hps3 A C 3: 20,030,796 L76R probably damaging Het
Ifrd1 T A 12: 40,214,081 Q105L probably damaging Het
Irs2 A T 8: 11,004,691 V1247E probably damaging Het
Itgal T C 7: 127,328,559 probably benign Het
Ivns1abp A T 1: 151,361,570 N495I probably damaging Het
Kank1 T A 19: 25,430,366 probably benign Het
Mroh8 T C 2: 157,225,468 Q657R probably benign Het
Mthfd1l T C 10: 4,041,838 Y597H probably benign Het
Myom1 G A 17: 71,077,365 V692I probably damaging Het
Olfr347 T G 2: 36,734,718 Y132* probably null Het
Olfr45 A T 7: 140,691,345 M147L probably benign Het
Olfr835 A G 9: 19,035,333 D70G probably damaging Het
Palmd A T 3: 116,924,076 H257Q probably damaging Het
Pcnx2 A T 8: 125,753,586 V1994D probably benign Het
Phkb G A 8: 86,016,931 G553S probably benign Het
Plekha5 G A 6: 140,591,747 R646K possibly damaging Het
Ptprn A T 1: 75,255,712 L453M probably damaging Het
Ptprz1 T A 6: 23,000,570 D886E probably damaging Het
Rcn1 T A 2: 105,394,781 I110F possibly damaging Het
Scn1a T A 2: 66,324,633 T661S probably benign Het
Slc6a19 A G 13: 73,684,057 Y467H possibly damaging Het
Slc9c1 T A 16: 45,575,420 D611E probably benign Het
Slitrk6 T C 14: 110,751,963 E104G possibly damaging Het
Spag17 A T 3: 100,050,787 K920N possibly damaging Het
St3gal5 A G 6: 72,142,149 S82G probably benign Het
Tlk1 T C 2: 70,713,989 *767W probably null Het
Tln2 A G 9: 67,370,706 V342A probably damaging Het
Tmem104 T A 11: 115,202,180 M132K probably damaging Het
Tmem184c A G 8: 77,597,073 S387P possibly damaging Het
Tmtc1 A G 6: 148,425,913 V34A possibly damaging Het
Trim46 A G 3: 89,236,333 F596S probably damaging Het
Unc79 T A 12: 103,134,525 D1870E possibly damaging Het
Utp20 T C 10: 88,778,391 T1234A probably benign Het
Vmn1r31 T A 6: 58,472,743 T46S probably benign Het
Vps13a A T 19: 16,691,824 L1341Q probably benign Het
Wdr72 A T 9: 74,210,433 D821V probably damaging Het
Zfhx4 T C 3: 5,398,982 L1400P probably damaging Het
Zfp217 T A 2: 170,114,874 K735* probably null Het
Zfp235 A G 7: 24,137,116 Q29R probably damaging Het
Zfp628 A G 7: 4,920,168 Y463C probably damaging Het
Zkscan4 A G 13: 21,484,581 T401A possibly damaging Het
Other mutations in Chn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Chn1 APN 2 73631752 missense probably damaging 1.00
P0043:Chn1 UTSW 2 73624165 missense probably damaging 0.98
R0410:Chn1 UTSW 2 73631750 nonsense probably null
R1496:Chn1 UTSW 2 73679607 splice site probably benign
R1935:Chn1 UTSW 2 73624901 missense probably damaging 1.00
R1939:Chn1 UTSW 2 73624901 missense probably damaging 1.00
R1940:Chn1 UTSW 2 73624901 missense probably damaging 1.00
R4457:Chn1 UTSW 2 73613083 missense probably damaging 0.96
R5005:Chn1 UTSW 2 73659786 missense possibly damaging 0.63
R5843:Chn1 UTSW 2 73679748 missense probably benign 0.40
R6247:Chn1 UTSW 2 73707006 missense possibly damaging 0.95
R6564:Chn1 UTSW 2 73618041 missense probably damaging 1.00
R7371:Chn1 UTSW 2 73679890 missense probably damaging 1.00
R8046:Chn1 UTSW 2 73618019 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCATCCTTTCCCAACTGGCAC -3'
(R):5'- CTGCATGTGATAGAGCTGCATACCC -3'

Sequencing Primer
(F):5'- GGCACAATTTCTCAAAAGACAGTG -3'
(R):5'- GAGCTGCATACCCAATATCTTGTG -3'
Posted On2013-05-09