Incidental Mutation 'R4127:Chn2'
ID 315435
Institutional Source Beutler Lab
Gene Symbol Chn2
Ensembl Gene ENSMUSG00000004633
Gene Name chimerin 2
Synonyms 1700026N20Rik, 4930557O16Rik
MMRRC Submission 040860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R4127 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 54016917-54278797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 54249963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Methionine at position 24 (R24M)
Ref Sequence ENSEMBL: ENSMUSP00000145507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046856] [ENSMUST00000067741] [ENSMUST00000114401] [ENSMUST00000114402] [ENSMUST00000203091] [ENSMUST00000204746] [ENSMUST00000203941] [ENSMUST00000204115] [ENSMUST00000204921] [ENSMUST00000146114]
AlphaFold Q80XD1
Predicted Effect probably benign
Transcript: ENSMUST00000046856
SMART Domains Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
SH2 57 136 7.23e-16 SMART
C1 215 264 1.88e-15 SMART
RhoGAP 288 465 2.73e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000067741
AA Change: R24M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633
AA Change: R24M

DomainStartEndE-ValueType
C1 79 128 1.88e-15 SMART
RhoGAP 152 329 2.73e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114401
SMART Domains Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633

DomainStartEndE-ValueType
C1 24 73 1.88e-15 SMART
RhoGAP 97 274 2.73e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114402
SMART Domains Protein: ENSMUSP00000110044
Gene: ENSMUSG00000004633

DomainStartEndE-ValueType
C1 24 73 1.88e-15 SMART
RhoGAP 97 224 2.07e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144094
Predicted Effect probably damaging
Transcript: ENSMUST00000203091
AA Change: R24M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145008
Gene: ENSMUSG00000004633
AA Change: R24M

DomainStartEndE-ValueType
C1 79 128 9.1e-18 SMART
Pfam:RhoGAP 155 196 5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204746
AA Change: R24M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144983
Gene: ENSMUSG00000004633
AA Change: R24M

DomainStartEndE-ValueType
RhoGAP 101 271 4.7e-61 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203941
AA Change: R24M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145314
Gene: ENSMUSG00000004633
AA Change: R24M

DomainStartEndE-ValueType
RhoGAP 101 225 1.2e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204115
AA Change: R24M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145507
Gene: ENSMUSG00000004633
AA Change: R24M

DomainStartEndE-ValueType
C1 79 128 9.1e-18 SMART
RhoGAP 101 257 3.7e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204921
AA Change: R24M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145231
Gene: ENSMUSG00000004633
AA Change: R24M

DomainStartEndE-ValueType
C1 79 128 9.1e-18 SMART
RhoGAP 152 283 4.9e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145111
Predicted Effect probably benign
Transcript: ENSMUST00000146114
SMART Domains Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633

DomainStartEndE-ValueType
C1 29 78 1.88e-15 SMART
RhoGAP 102 279 2.73e-73 SMART
Meta Mutation Damage Score 0.0968 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired infrapyramidal tract neuron prunning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,141,973 (GRCm39) H3R probably benign Het
Actg2 A T 6: 83,499,866 (GRCm39) F128Y possibly damaging Het
Ankrd6 G A 4: 32,822,241 (GRCm39) T176M probably damaging Het
Atp6ap1l T C 13: 91,046,826 (GRCm39) D117G probably damaging Het
Cd209b A G 8: 3,968,714 (GRCm39) I284T probably damaging Het
Cfl2 C T 12: 54,908,143 (GRCm39) A123T probably benign Het
Cgnl1 T C 9: 71,631,822 (GRCm39) T510A probably benign Het
Cyfip2 T C 11: 46,161,474 (GRCm39) I339V probably benign Het
Etl4 C T 2: 20,748,886 (GRCm39) P539L possibly damaging Het
Fras1 A G 5: 96,918,512 (GRCm39) D3516G probably benign Het
Frem2 T C 3: 53,433,317 (GRCm39) Y2669C probably damaging Het
Gga2 G T 7: 121,601,943 (GRCm39) H205N probably damaging Het
Gm5592 G A 7: 40,938,491 (GRCm39) G591D probably benign Het
Gtf3c1 A T 7: 125,246,622 (GRCm39) C1562* probably null Het
Heatr3 T A 8: 88,864,939 (GRCm39) C59S probably damaging Het
Heatr5b A G 17: 79,060,603 (GRCm39) M2024T possibly damaging Het
Jarid2 T C 13: 45,055,732 (GRCm39) S313P probably damaging Het
Lzts3 A G 2: 130,477,285 (GRCm39) S502P probably damaging Het
Or5d36 A G 2: 87,901,579 (GRCm39) V49A probably benign Het
Pcdhb2 A T 18: 37,428,594 (GRCm39) D189V probably damaging Het
Pias3 G T 3: 96,606,982 (GRCm39) G82C probably damaging Het
Polg T C 7: 79,105,285 (GRCm39) E753G probably damaging Het
Pus10 T C 11: 23,668,654 (GRCm39) probably null Het
Pxn A G 5: 115,684,966 (GRCm39) R264G probably damaging Het
Rag1 A G 2: 101,472,416 (GRCm39) Y909H probably damaging Het
Rell2 A G 18: 38,091,267 (GRCm39) H144R probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 C T 13: 11,602,323 (GRCm39) V4520I possibly damaging Het
Scp2 A G 4: 107,921,181 (GRCm39) F10L probably benign Het
Slc9b2 T C 3: 135,035,598 (GRCm39) Y356H probably benign Het
Sorcs1 T C 19: 50,210,597 (GRCm39) D756G probably benign Het
Stra6 T A 9: 58,058,501 (GRCm39) V454E probably damaging Het
Tbc1d8 T C 1: 39,411,512 (GRCm39) N1108S probably benign Het
Tep1 C T 14: 51,081,191 (GRCm39) R1349Q possibly damaging Het
Tmem132d T C 5: 128,345,884 (GRCm39) R213G probably benign Het
Ubash3a T C 17: 31,456,249 (GRCm39) Y506H probably damaging Het
Xcr1 A C 9: 123,685,561 (GRCm39) V67G probably damaging Het
Zranb2 C A 3: 157,243,227 (GRCm39) C74* probably null Het
Other mutations in Chn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Chn2 APN 6 54,272,907 (GRCm39) critical splice donor site probably null
IGL02158:Chn2 APN 6 54,277,230 (GRCm39) unclassified probably benign
IGL02618:Chn2 APN 6 54,197,422 (GRCm39) missense probably damaging 1.00
IGL02807:Chn2 APN 6 54,272,898 (GRCm39) missense possibly damaging 0.80
IGL03357:Chn2 APN 6 54,171,062 (GRCm39) missense probably benign 0.02
R0002:Chn2 UTSW 6 54,250,098 (GRCm39) missense probably benign 0.08
R0123:Chn2 UTSW 6 54,267,436 (GRCm39) splice site probably benign
R0225:Chn2 UTSW 6 54,267,436 (GRCm39) splice site probably benign
R1478:Chn2 UTSW 6 54,270,065 (GRCm39) missense probably damaging 1.00
R1905:Chn2 UTSW 6 54,263,106 (GRCm39) missense probably damaging 1.00
R3769:Chn2 UTSW 6 54,267,396 (GRCm39) missense probably damaging 1.00
R3946:Chn2 UTSW 6 54,246,411 (GRCm39) unclassified probably benign
R4125:Chn2 UTSW 6 54,249,963 (GRCm39) missense probably damaging 1.00
R4128:Chn2 UTSW 6 54,249,963 (GRCm39) missense probably damaging 1.00
R4614:Chn2 UTSW 6 54,267,388 (GRCm39) missense probably damaging 1.00
R4616:Chn2 UTSW 6 54,267,388 (GRCm39) missense probably damaging 1.00
R5063:Chn2 UTSW 6 54,267,272 (GRCm39) nonsense probably null
R5121:Chn2 UTSW 6 54,195,546 (GRCm39) missense possibly damaging 0.57
R5208:Chn2 UTSW 6 54,272,786 (GRCm39) missense probably damaging 0.97
R5240:Chn2 UTSW 6 54,197,680 (GRCm39) missense probably benign
R5348:Chn2 UTSW 6 54,277,203 (GRCm39) missense probably damaging 0.99
R5861:Chn2 UTSW 6 54,267,359 (GRCm39) missense probably damaging 1.00
R6539:Chn2 UTSW 6 54,150,446 (GRCm39) splice site probably null
R6824:Chn2 UTSW 6 54,249,938 (GRCm39) missense probably benign 0.00
R7194:Chn2 UTSW 6 54,263,162 (GRCm39) splice site probably null
R7740:Chn2 UTSW 6 54,277,156 (GRCm39) missense probably benign 0.18
R7765:Chn2 UTSW 6 54,275,137 (GRCm39) critical splice donor site probably null
R7997:Chn2 UTSW 6 54,267,270 (GRCm39) missense probably damaging 1.00
R8477:Chn2 UTSW 6 54,246,467 (GRCm39) splice site probably null
R8804:Chn2 UTSW 6 54,250,061 (GRCm39) missense probably benign 0.01
R9297:Chn2 UTSW 6 54,272,840 (GRCm39) missense probably damaging 1.00
R9318:Chn2 UTSW 6 54,272,840 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCCCTTCCAGGTCACATG -3'
(R):5'- GACTCTTACCTTGAAGTTGTGTGTC -3'

Sequencing Primer
(F):5'- AGAACACAGCTGCCTCAAGTCTG -3'
(R):5'- ACCTTGAAGTTGTGTGTCTTCTC -3'
Posted On 2015-05-14