Incidental Mutation 'R1940:Chn1'
ID 213884
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 039958-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R1940 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 73441004-73605690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73455245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 39 (C39R)
Ref Sequence ENSEMBL: ENSMUSP00000155037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070579] [ENSMUST00000102677] [ENSMUST00000112024] [ENSMUST00000136953] [ENSMUST00000139252] [ENSMUST00000154258] [ENSMUST00000180045] [ENSMUST00000229731] [ENSMUST00000166199]
AlphaFold Q91V57
Predicted Effect probably damaging
Transcript: ENSMUST00000070579
AA Change: C39R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070301
Gene: ENSMUSG00000056486
AA Change: C39R

DomainStartEndE-ValueType
RhoGAP 30 207 3.41e-74 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102677
AA Change: C163R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099738
Gene: ENSMUSG00000056486
AA Change: C163R

DomainStartEndE-ValueType
C1 81 130 5.6e-14 SMART
RhoGAP 154 331 3.41e-74 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112024
AA Change: C288R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107655
Gene: ENSMUSG00000056486
AA Change: C288R

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 damaging
Transcript: ENSMUST00000136953
AA Change: C63R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123551
Gene: ENSMUSG00000056486
AA Change: C63R

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: ENSMUST00000154258
AA Change: C63R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116417
Gene: ENSMUSG00000056486
AA Change: C63R

DomainStartEndE-ValueType
Pfam:C1_1 1 33 6.6e-10 PFAM
Pfam:RhoGAP 57 95 1.8e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180045
AA Change: C39R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137106
Gene: ENSMUSG00000056486
AA Change: C39R

DomainStartEndE-ValueType
RhoGAP 30 207 3.41e-74 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000229731
AA Change: C39R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231013
Predicted Effect probably benign
Transcript: ENSMUST00000166199
SMART Domains Protein: ENSMUSP00000128847
Gene: ENSMUSG00000056486

DomainStartEndE-ValueType
SH2 47 126 7.63e-15 SMART
RhoGAP 228 398 2.36e-59 SMART
Meta Mutation Damage Score 0.9680 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.7%
Validation Efficiency 98% (108/110)
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,032,832 (GRCm39) probably benign Het
Ace2 A T X: 162,939,524 (GRCm39) M123L possibly damaging Het
Acvr1c A T 2: 58,173,517 (GRCm39) N248K probably damaging Het
Adam24 A T 8: 41,134,400 (GRCm39) R623* probably null Het
Agbl2 T A 2: 90,641,626 (GRCm39) L752Q probably damaging Het
Ankrd26 A T 6: 118,488,654 (GRCm39) F1335Y probably damaging Het
Ankrd34a A G 3: 96,505,992 (GRCm39) S399G probably benign Het
Aoc1l3 A T 6: 48,967,007 (GRCm39) K652* probably null Het
Ap3d1 G A 10: 80,545,607 (GRCm39) P1041S probably benign Het
Arid3b A T 9: 57,703,431 (GRCm39) M466K possibly damaging Het
Arsj T C 3: 126,231,995 (GRCm39) I247T probably damaging Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Azin2 C T 4: 128,844,577 (GRCm39) probably null Het
Bcat2 T C 7: 45,237,792 (GRCm39) Y313H possibly damaging Het
Cables2 A G 2: 179,901,873 (GRCm39) V465A probably damaging Het
Ccdc60 G A 5: 116,264,224 (GRCm39) H517Y probably damaging Het
Cd55b A T 1: 130,345,843 (GRCm39) probably null Het
Cdc40 G A 10: 40,759,067 (GRCm39) probably benign Het
Cdh20 G A 1: 109,976,754 (GRCm39) V140I probably benign Het
Cdhr18 A T 14: 13,828,582 (GRCm38) M726K probably null Het
Cfi T C 3: 129,652,477 (GRCm39) probably benign Het
Chit1 G A 1: 134,073,156 (GRCm39) probably null Het
Ciao1 A G 2: 127,088,380 (GRCm39) S148P possibly damaging Het
Clmn G A 12: 104,756,361 (GRCm39) T163I probably damaging Het
Cngb1 C A 8: 96,026,320 (GRCm39) G154W probably damaging Het
Col19a1 A T 1: 24,303,831 (GRCm39) C1117* probably null Het
Cplane1 T A 15: 8,263,336 (GRCm39) S2496R probably damaging Het
Cyp2d10 T A 15: 82,289,495 (GRCm39) I206F probably benign Het
Ddrgk1 G T 2: 130,505,480 (GRCm39) probably benign Het
Ddx18 A T 1: 121,482,953 (GRCm39) V611D probably damaging Het
Dnah8 A T 17: 30,950,181 (GRCm39) H2000L probably damaging Het
Duox1 T C 2: 122,156,465 (GRCm39) V464A probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eif4enif1 A G 11: 3,193,279 (GRCm39) H857R probably damaging Het
Elmo2 A G 2: 165,133,970 (GRCm39) probably benign Het
Fam171b CCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGC 2: 83,643,218 (GRCm39) probably benign Het
Glrx A G 13: 75,988,256 (GRCm39) I57V probably benign Het
Golm1 A T 13: 59,790,051 (GRCm39) probably benign Het
Grm3 G A 5: 9,561,682 (GRCm39) R723W probably damaging Het
Gsta3 G A 1: 21,327,601 (GRCm39) R45Q probably benign Het
Gtf3c3 A C 1: 54,468,117 (GRCm39) probably benign Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Hoxa10 C A 6: 52,211,350 (GRCm39) G189C possibly damaging Het
Hs3st3b1 T C 11: 63,780,569 (GRCm39) D186G probably benign Het
Hscb G T 5: 110,983,926 (GRCm39) H63N probably benign Het
Itpr3 A G 17: 27,330,191 (GRCm39) E1603G probably damaging Het
Ivl T A 3: 92,480,056 (GRCm39) H3L probably benign Het
Klhl26 C A 8: 70,904,911 (GRCm39) R252L probably damaging Het
Krt31 T A 11: 99,939,069 (GRCm39) T251S probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lhx3 T C 2: 26,093,974 (GRCm39) D83G probably benign Het
Lss C A 10: 76,381,296 (GRCm39) N427K possibly damaging Het
Mettl24 G A 10: 40,613,722 (GRCm39) A154T probably benign Het
Mgat4a A T 1: 37,575,118 (GRCm39) probably null Het
Moxd2 C T 6: 40,860,466 (GRCm39) R326Q probably damaging Het
Mpdz G A 4: 81,279,680 (GRCm39) A669V probably benign Het
Msra G A 14: 64,522,505 (GRCm39) probably benign Het
Muc13 A T 16: 33,628,281 (GRCm39) T344S probably benign Het
Myo3b T C 2: 70,088,419 (GRCm39) I866T probably benign Het
Nbea T C 3: 55,860,521 (GRCm39) S1852G possibly damaging Het
Ncf2 A G 1: 152,709,815 (GRCm39) probably benign Het
Nfyc C A 4: 120,630,861 (GRCm39) probably benign Het
Nop2 T C 6: 125,111,597 (GRCm39) V110A probably benign Het
Nrg2 C A 18: 36,329,897 (GRCm39) probably benign Het
Nrl A G 14: 55,759,892 (GRCm39) Y12H probably damaging Het
Nrxn3 T C 12: 89,227,151 (GRCm39) V635A probably damaging Het
Or4d11 A C 19: 12,013,275 (GRCm39) V277G probably benign Het
Or6b2b T A 1: 92,419,457 (GRCm39) T7S probably benign Het
Or8k41 T A 2: 86,313,703 (GRCm39) K128* probably null Het
Or9g8 T A 2: 85,607,515 (GRCm39) S196T probably benign Het
Papolg A T 11: 23,817,279 (GRCm39) N639K probably benign Het
Paqr4 T C 17: 23,956,638 (GRCm39) I242V probably damaging Het
Pramel6 A T 2: 87,339,076 (GRCm39) K92M probably damaging Het
Prg4 T C 1: 150,331,774 (GRCm39) T300A possibly damaging Het
Ptprb A T 10: 116,155,515 (GRCm39) probably benign Het
Rab28 A T 5: 41,783,133 (GRCm39) S216T probably benign Het
Rrp1b A T 17: 32,275,819 (GRCm39) R455S possibly damaging Het
Sash1 A T 10: 8,605,696 (GRCm39) M898K probably benign Het
Scn8a C T 15: 100,868,085 (GRCm39) T310I probably benign Het
Secisbp2l C A 2: 125,582,259 (GRCm39) D1066Y probably damaging Het
Sipa1l2 A G 8: 126,206,887 (GRCm39) probably benign Het
Slc12a1 A G 2: 125,036,113 (GRCm39) T662A probably benign Het
Slc12a4 T C 8: 106,672,669 (GRCm39) I749V probably benign Het
Slc22a27 A G 19: 7,887,092 (GRCm39) S266P probably damaging Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slit1 T A 19: 41,619,215 (GRCm39) N762I probably damaging Het
Spata31d1b C A 13: 59,865,835 (GRCm39) D994E possibly damaging Het
Sphk1 A G 11: 116,426,676 (GRCm39) I204V probably benign Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tet2 T C 3: 133,194,399 (GRCm39) T12A possibly damaging Het
Tgfbi A T 13: 56,762,127 (GRCm39) Q70L possibly damaging Het
Tlr9 T C 9: 106,101,846 (GRCm39) L379P probably damaging Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Tra2b A G 16: 22,073,795 (GRCm39) probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trnau1ap A G 4: 132,049,114 (GRCm39) Y30H probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Ush2a A G 1: 188,683,758 (GRCm39) D4979G probably null Het
Usp50 C T 2: 126,619,943 (GRCm39) R123Q probably benign Het
Vmn2r117 A T 17: 23,696,454 (GRCm39) Y318N probably damaging Het
Whamm C T 7: 81,228,047 (GRCm39) T304I probably null Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Ythdf3 A G 3: 16,259,256 (GRCm39) N468D possibly damaging Het
Zbtb17 T C 4: 141,192,859 (GRCm39) I486T possibly damaging Het
Zfp3 T C 11: 70,662,202 (GRCm39) S54P probably benign Het
Zscan10 A T 17: 23,828,826 (GRCm39) H379L probably 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
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
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'- GCAGACACCATCCATTAATGTATC -3'
(R):5'- CCAGGCTGGAAATAGTCACG -3'

Sequencing Primer
(F):5'- CCATCACCAGTTAAATGTTCCTTG -3'
(R):5'- GGCTGGAAATAGTCACGACTTTTCC -3'
Posted On 2014-07-14