Incidental Mutation 'R3769:Chn2'
ID 273163
Institutional Source Beutler Lab
Gene Symbol Chn2
Ensembl Gene ENSMUSG00000004633
Gene Name chimerin 2
Synonyms 1700026N20Rik, 4930557O16Rik
MMRRC Submission 040746-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R3769 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 54016917-54278797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54267396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 159 (D159G)
Ref Sequence ENSEMBL: ENSMUSP00000145008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046856] [ENSMUST00000067741] [ENSMUST00000114401] [ENSMUST00000114402] [ENSMUST00000146114] [ENSMUST00000204115] [ENSMUST00000204921] [ENSMUST00000203091] [ENSMUST00000203941] [ENSMUST00000204746]
AlphaFold Q80XD1
Predicted Effect probably damaging
Transcript: ENSMUST00000046856
AA Change: D295G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633
AA Change: D295G

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: D159G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633
AA Change: D159G

DomainStartEndE-ValueType
C1 79 128 1.88e-15 SMART
RhoGAP 152 329 2.73e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114401
AA Change: D104G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633
AA Change: D104G

DomainStartEndE-ValueType
C1 24 73 1.88e-15 SMART
RhoGAP 97 274 2.73e-73 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114402
AA Change: D104G

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110044
Gene: ENSMUSG00000004633
AA Change: D104G

DomainStartEndE-ValueType
C1 24 73 1.88e-15 SMART
RhoGAP 97 224 2.07e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145111
Predicted Effect probably benign
Transcript: ENSMUST00000146114
AA Change: D109G

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633
AA Change: D109G

DomainStartEndE-ValueType
C1 29 78 1.88e-15 SMART
RhoGAP 102 279 2.73e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204115
AA Change: D159G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145507
Gene: ENSMUSG00000004633
AA Change: D159G

DomainStartEndE-ValueType
C1 79 128 9.1e-18 SMART
RhoGAP 101 257 3.7e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204921
AA Change: D159G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145231
Gene: ENSMUSG00000004633
AA Change: D159G

DomainStartEndE-ValueType
C1 79 128 9.1e-18 SMART
RhoGAP 152 283 4.9e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203091
AA Change: D159G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145008
Gene: ENSMUSG00000004633
AA Change: D159G

DomainStartEndE-ValueType
C1 79 128 9.1e-18 SMART
Pfam:RhoGAP 155 196 5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203941
SMART Domains Protein: ENSMUSP00000145314
Gene: ENSMUSG00000004633

DomainStartEndE-ValueType
RhoGAP 101 225 1.2e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204746
SMART Domains Protein: ENSMUSP00000144983
Gene: ENSMUSG00000004633

DomainStartEndE-ValueType
RhoGAP 101 271 4.7e-61 SMART
Meta Mutation Damage Score 0.8481 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (47/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Ccer1 G A 10: 97,530,414 (GRCm39) G359E probably damaging Het
Cdkal1 T C 13: 29,736,386 (GRCm39) probably null Het
Celf1 T C 2: 90,828,993 (GRCm39) V20A probably damaging Het
Cep350 G A 1: 155,828,950 (GRCm39) T318I probably damaging Het
Chst5 T A 8: 112,616,513 (GRCm39) D369V possibly damaging Het
Cmya5 A T 13: 93,233,201 (GRCm39) I629K possibly damaging Het
Cplx4 T C 18: 66,102,998 (GRCm39) T41A probably benign Het
Ddx3x T C X: 13,156,808 (GRCm39) probably benign Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Dpy19l4 T C 4: 11,276,868 (GRCm39) probably null Het
Fgf10 G T 13: 118,918,083 (GRCm39) V124F probably damaging Het
Gm6356 C A 14: 6,971,774 (GRCm38) M120I probably benign Het
Gm7964 T A 7: 83,405,338 (GRCm39) V76D probably damaging Het
Gm826 A G 2: 160,169,165 (GRCm39) V48A unknown Het
Hoxb5 A G 11: 96,194,795 (GRCm39) D119G possibly damaging Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Itgb2 T C 10: 77,385,802 (GRCm39) V255A possibly damaging Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Pdia6 T C 12: 17,320,457 (GRCm39) V32A probably damaging Het
Pex6 G T 17: 47,035,311 (GRCm39) probably null Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Polr2c G A 8: 95,586,928 (GRCm39) A65T probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Scn5a G A 9: 119,381,142 (GRCm39) probably benign Het
Sh3rf3 A G 10: 58,820,013 (GRCm39) T275A probably benign Het
Slc27a2 A G 2: 126,409,718 (GRCm39) D300G possibly damaging Het
Slc35e1 A T 8: 73,245,714 (GRCm39) I155N possibly damaging Het
Slco1a4 A G 6: 141,785,357 (GRCm39) Y78H probably damaging Het
Snx15 T A 19: 6,173,984 (GRCm39) probably benign Het
Top1 A T 2: 160,563,442 (GRCm39) I758F probably damaging Het
U2surp A G 9: 95,375,750 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ulk4 A G 9: 121,092,766 (GRCm39) V157A probably benign Het
Urgcp T C 11: 5,667,000 (GRCm39) Y446C probably damaging Het
Vps51 T C 19: 6,126,378 (GRCm39) T125A possibly damaging Het
Ypel1 T C 16: 16,927,532 (GRCm39) H20R probably benign Het
Zfp458 T A 13: 67,405,546 (GRCm39) I298F probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) probably benign 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
R3946:Chn2 UTSW 6 54,246,411 (GRCm39) unclassified probably benign
R4125:Chn2 UTSW 6 54,249,963 (GRCm39) missense probably damaging 1.00
R4127: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'- CTCTGGCAGCACATAGTTTGTC -3'
(R):5'- GTGTGTATGCAAGCCATTGTCC -3'

Sequencing Primer
(F):5'- GGACCCAGTGACGCTAATGTG -3'
(R):5'- TGCAAGCCATTGTCCTAAAGG -3'
Posted On 2015-03-25