Incidental Mutation 'R9644:Chn1'
ID 726119
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R9644 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 73441004-73605690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73490184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 31 (I31K)
Ref Sequence ENSEMBL: ENSMUSP00000099738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102677] [ENSMUST00000112024] [ENSMUST00000136953] [ENSMUST00000139252] [ENSMUST00000154258] [ENSMUST00000180045] [ENSMUST00000166199]
AlphaFold Q91V57
Predicted Effect probably benign
Transcript: ENSMUST00000102677
AA Change: I31K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099738
Gene: ENSMUSG00000056486
AA Change: I31K

DomainStartEndE-ValueType
C1 81 130 5.6e-14 SMART
RhoGAP 154 331 3.41e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112024
SMART Domains Protein: ENSMUSP00000107655
Gene: ENSMUSG00000056486

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 noncoding transcript
Transcript: ENSMUST00000123613
Predicted Effect probably benign
Transcript: ENSMUST00000124450
Predicted Effect probably benign
Transcript: ENSMUST00000136953
SMART Domains Protein: ENSMUSP00000123551
Gene: ENSMUSG00000056486

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 benign
Transcript: ENSMUST00000154258
SMART Domains Protein: ENSMUSP00000116417
Gene: ENSMUSG00000056486

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
SMART Domains Protein: ENSMUSP00000137106
Gene: ENSMUSG00000056486

DomainStartEndE-ValueType
RhoGAP 30 207 3.41e-74 SMART
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot7 C A 4: 152,270,752 (GRCm39) S32* probably null Het
Adam34 T A 8: 44,104,766 (GRCm39) H293L probably damaging Het
Adgrl3 A G 5: 81,872,036 (GRCm39) N910S probably damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Ankrd36 A G 11: 5,593,835 (GRCm39) D480G possibly damaging Het
Aox4 T A 1: 58,267,278 (GRCm39) D185E probably benign Het
Apol8 C A 15: 77,633,695 (GRCm39) V294L probably damaging Het
Arsk G A 13: 76,220,227 (GRCm39) A289V probably damaging Het
Atg101 A G 15: 101,188,447 (GRCm39) D184G probably benign Het
Atp10b C T 11: 43,042,659 (GRCm39) T73I probably damaging Het
Ccn4 T G 15: 66,784,785 (GRCm39) C153G Het
Ccser2 A T 14: 36,601,150 (GRCm39) N411K possibly damaging Het
Cct5 A G 15: 31,601,845 (GRCm39) S3P probably benign Het
Clec2e T A 6: 129,070,443 (GRCm39) I193L probably benign Het
Crim1 G A 17: 78,587,497 (GRCm39) G201R probably damaging Het
Ctrc A G 4: 141,572,336 (GRCm39) V68A probably damaging Het
Dennd4c T A 4: 86,713,363 (GRCm39) I438N probably damaging Het
Dnah5 T A 15: 28,230,650 (GRCm39) W183R probably damaging Het
Dnali1 T A 4: 124,950,402 (GRCm39) I253F probably damaging Het
Dyrk1b T C 7: 27,881,790 (GRCm39) L83P probably damaging Het
Emx2 T C 19: 59,452,427 (GRCm39) I237T probably benign Het
Enpp3 C T 10: 24,685,801 (GRCm39) R198K probably damaging Het
Epb41l1 C T 2: 156,367,165 (GRCm39) P678L possibly damaging Het
Epm2aip1 C T 9: 111,102,137 (GRCm39) T370I probably damaging Het
Fam184a T G 10: 53,573,342 (GRCm39) Q346P probably damaging Het
Foxi2 A C 7: 135,013,727 (GRCm39) H319P possibly damaging Het
Gatad1 A G 5: 3,691,442 (GRCm39) V250A possibly damaging Het
Gmeb1 T C 4: 131,959,440 (GRCm39) I205V probably benign Het
Gucy2g C G 19: 55,219,537 (GRCm39) V362L probably benign Het
Hace1 T C 10: 45,526,001 (GRCm39) S281P probably benign Het
Helz C A 11: 107,563,687 (GRCm39) A1709D unknown Het
Igf2bp2 T A 16: 21,902,735 (GRCm39) N115Y probably damaging Het
Igkv4-86 C T 6: 68,887,593 (GRCm39) V49I probably benign Het
Kdm2b A T 5: 123,120,842 (GRCm39) V101E probably damaging Het
Kidins220 A G 12: 25,061,018 (GRCm39) D790G probably damaging Het
Kif18a A G 2: 109,171,517 (GRCm39) T865A probably benign Het
Kif1b A G 4: 149,375,836 (GRCm39) V10A probably damaging Het
Kmt2d A T 15: 98,743,385 (GRCm39) M3925K unknown Het
Mcee G T 7: 64,061,730 (GRCm39) A178S possibly damaging Het
Megf10 A T 18: 57,375,773 (GRCm39) H233L probably benign Het
Meox1 T A 11: 101,769,482 (GRCm39) E238V probably benign Het
Myo5a G A 9: 75,043,631 (GRCm39) G207R probably damaging Het
Nemf T A 12: 69,359,436 (GRCm39) N966I possibly damaging Het
Or10q3 T C 19: 11,848,574 (GRCm39) E2G probably benign Het
Or1j14 A T 2: 36,417,777 (GRCm39) M118L probably damaging Het
Or5b123 G T 19: 13,597,344 (GRCm39) A230S probably benign Het
Or6c204 A G 10: 129,022,738 (GRCm39) I184T possibly damaging Het
Pfas T C 11: 68,883,542 (GRCm39) Q662R probably benign Het
Phf2 G T 13: 49,024,218 (GRCm39) C8* probably null Het
Pkhd1 T A 1: 20,617,690 (GRCm39) N965I probably benign Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Prb1b T A 6: 132,289,218 (GRCm39) Q202L unknown Het
Prdm8 A T 5: 98,333,638 (GRCm39) T402S probably benign Het
Proz T A 8: 13,116,854 (GRCm39) D135E probably benign Het
Prtg T A 9: 72,813,493 (GRCm39) I951K probably damaging Het
Rasgef1b A T 5: 99,380,014 (GRCm39) Y288* probably null Het
Sacs T A 14: 61,443,428 (GRCm39) C1825S probably benign Het
Slc22a12 G C 19: 6,587,673 (GRCm39) P427R probably damaging Het
Slfn3 A G 11: 83,105,728 (GRCm39) Y575C probably damaging Het
St18 C T 1: 6,929,276 (GRCm39) T56I Het
Synrg T C 11: 83,910,696 (GRCm39) L876S probably damaging Het
Tchh T C 3: 93,354,666 (GRCm39) C1369R unknown Het
Tet2 G A 3: 133,193,064 (GRCm39) Q457* probably null Het
Thap12 T C 7: 98,364,495 (GRCm39) V221A probably damaging Het
Tor3a T A 1: 156,501,126 (GRCm39) D104V probably damaging Het
Trpc2 T C 7: 101,744,439 (GRCm39) V737A possibly damaging Het
Trpc4 A G 3: 54,129,699 (GRCm39) Y155C probably damaging Het
Tspyl1 T C 10: 34,159,135 (GRCm39) S287P possibly damaging Het
Ube2u TAGAAGAAGAAGAAGAAGAAGAAGAAGA TAGAAGAAGAAGAAGAAGAAGAAGA 4: 100,406,943 (GRCm39) probably benign Het
Ubr2 A G 17: 47,266,706 (GRCm39) probably null Het
Vmn1r238 T A 18: 3,122,635 (GRCm39) T260S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GCCTGTAACACTGCACACTC -3'
(R):5'- TGAGTAGAGTTCACCGGCAGTC -3'

Sequencing Primer
(F):5'- CTGAGCATTCTTTATGAGAAAAGGCC -3'
(R):5'- AGTCGCAGGCTGACACAG -3'
Posted On 2022-09-12