Incidental Mutation 'R4614:Chn2'
ID 344933
Institutional Source Beutler Lab
Gene Symbol Chn2
Ensembl Gene ENSMUSG00000004633
Gene Name chimerin 2
Synonyms 1700026N20Rik, 4930557O16Rik
MMRRC Submission 041825-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R4614 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 54016917-54278797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54267388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 292 (M292I)
Ref Sequence ENSEMBL: ENSMUSP00000035908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046856] [ENSMUST00000067741] [ENSMUST00000114401] [ENSMUST00000114402] [ENSMUST00000146114] [ENSMUST00000203091] [ENSMUST00000204115] [ENSMUST00000204921] [ENSMUST00000203941] [ENSMUST00000204746]
AlphaFold Q80XD1
Predicted Effect probably damaging
Transcript: ENSMUST00000046856
AA Change: M292I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633
AA Change: M292I

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 benign
Transcript: ENSMUST00000067741
AA Change: M156I

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633
AA Change: M156I

DomainStartEndE-ValueType
C1 79 128 1.88e-15 SMART
RhoGAP 152 329 2.73e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114401
AA Change: M101I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633
AA Change: M101I

DomainStartEndE-ValueType
C1 24 73 1.88e-15 SMART
RhoGAP 97 274 2.73e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114402
AA Change: M101I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000110044
Gene: ENSMUSG00000004633
AA Change: M101I

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: M106I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633
AA Change: M106I

DomainStartEndE-ValueType
C1 29 78 1.88e-15 SMART
RhoGAP 102 279 2.73e-73 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203091
AA Change: M156I

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145008
Gene: ENSMUSG00000004633
AA Change: M156I

DomainStartEndE-ValueType
C1 79 128 9.1e-18 SMART
Pfam:RhoGAP 155 196 5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204115
AA Change: M156I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145507
Gene: ENSMUSG00000004633
AA Change: M156I

DomainStartEndE-ValueType
C1 79 128 9.1e-18 SMART
RhoGAP 101 257 3.7e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204921
AA Change: M156I

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145231
Gene: ENSMUSG00000004633
AA Change: M156I

DomainStartEndE-ValueType
C1 79 128 9.1e-18 SMART
RhoGAP 152 283 4.9e-37 SMART
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 0.1098 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (95/97)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T G 13: 77,402,375 (GRCm39) probably null Het
4932414N04Rik C A 2: 68,575,804 (GRCm39) T701K probably benign Het
Abcb11 A T 2: 69,115,025 (GRCm39) H640Q possibly damaging Het
Ago2 C T 15: 73,002,816 (GRCm39) V139M probably damaging Het
Apol11a A T 15: 77,400,772 (GRCm39) K86N probably benign Het
Ass1 T C 2: 31,404,795 (GRCm39) Y359H probably damaging Het
Bpifa3 A T 2: 153,978,200 (GRCm39) N34I probably damaging Het
Brwd1 A T 16: 95,848,559 (GRCm39) L540H probably damaging Het
C3ar1 G A 6: 122,827,680 (GRCm39) S179F probably benign Het
Ccnb1ip1 T C 14: 51,029,652 (GRCm39) T137A probably benign Het
Cd5l A G 3: 87,275,926 (GRCm39) T299A probably benign Het
Cdk12 T A 11: 98,140,603 (GRCm39) probably benign Het
Cep290 T C 10: 100,344,602 (GRCm39) M480T probably benign Het
Cep290 G A 10: 100,395,549 (GRCm39) R2112K possibly damaging Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Cpeb1 A T 7: 81,086,018 (GRCm39) D41E possibly damaging Het
Csf2rb2 C G 15: 78,175,902 (GRCm39) C184S probably damaging Het
Ctsc G A 7: 87,927,583 (GRCm39) probably null Het
Cyp2c40 G A 19: 39,792,300 (GRCm39) S191L probably damaging Het
Dagla T C 19: 10,225,641 (GRCm39) E841G probably damaging Het
Dld A T 12: 31,383,944 (GRCm39) Y386* probably null Het
Dpp8 G A 9: 64,973,678 (GRCm39) S634N probably benign Het
Duox2 A T 2: 122,120,038 (GRCm39) V824E probably damaging Het
Dync2h1 A C 9: 7,011,290 (GRCm39) S3634R probably benign Het
Eef1d T C 15: 75,775,425 (GRCm39) N78S probably benign Het
Fcrl5 T A 3: 87,355,733 (GRCm39) I482N probably damaging Het
Fezf1 A T 6: 23,247,857 (GRCm39) C73S possibly damaging Het
Fgfr1 A G 8: 26,047,813 (GRCm39) D53G probably benign Het
Fmn1 T C 2: 113,195,494 (GRCm39) L398S unknown Het
Gm17175 T C 14: 51,809,042 (GRCm39) Q108R probably benign Het
Gm28042 G A 2: 119,871,639 (GRCm39) G669D probably damaging Het
Gm6185 A G 1: 161,050,669 (GRCm39) noncoding transcript Het
Gucy2g A T 19: 55,190,579 (GRCm39) C1018* probably null Het
H2-Q10 A T 17: 35,784,917 (GRCm39) probably benign Het
H2-T22 T G 17: 36,351,429 (GRCm39) Q267P probably benign Het
Hibadh A G 6: 52,523,915 (GRCm39) Y328H possibly damaging Het
Hsd3b3 T A 3: 98,649,396 (GRCm39) Y309F probably benign Het
Ighv1-37 C T 12: 114,859,863 (GRCm39) A116T probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Insyn1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,406,715 (GRCm39) probably benign Het
Iqch A G 9: 63,389,863 (GRCm39) M733T probably benign Het
Jakmip2 T A 18: 43,695,657 (GRCm39) D539V probably damaging Het
Lgi2 A G 5: 52,695,775 (GRCm39) S395P probably damaging Het
Lrrc40 A T 3: 157,760,271 (GRCm39) N344I probably damaging Het
Ltbp1 G A 17: 75,596,989 (GRCm39) probably benign Het
Metap1d C T 2: 71,355,292 (GRCm39) P332L probably benign Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mis18bp1 T A 12: 65,200,303 (GRCm39) probably benign Het
Mta2 T C 19: 8,925,492 (GRCm39) probably null Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Muc4 A G 16: 32,577,432 (GRCm39) K241E probably benign Het
Mup18 T A 4: 61,590,154 (GRCm39) I125F possibly damaging Het
Nfs1 A G 2: 155,985,970 (GRCm39) S31P probably benign Het
Or10g6 T A 9: 39,934,255 (GRCm39) C189S probably damaging Het
Or10z1 A G 1: 174,078,188 (GRCm39) F102L possibly damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Otogl A T 10: 107,727,985 (GRCm39) C245* probably null Het
Pcdhb16 G A 18: 37,613,398 (GRCm39) G786D probably benign Het
Pdcd5 C T 7: 35,346,472 (GRCm39) probably benign Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Piezo1 A T 8: 123,213,150 (GRCm39) I1871N probably benign Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Plxnd1 T C 6: 115,949,486 (GRCm39) T767A possibly damaging Het
Polr3c T G 3: 96,623,787 (GRCm39) I322L probably benign Het
Ppp1r26 C A 2: 28,340,860 (GRCm39) H163Q probably benign Het
Prox1 T G 1: 189,894,205 (GRCm39) Y80S probably damaging Het
Pygl T C 12: 70,257,753 (GRCm39) probably null Het
Rab23 T C 1: 33,778,466 (GRCm39) V236A probably benign Het
Setd2 T C 9: 110,398,881 (GRCm39) probably null Het
Slc5a7 A G 17: 54,583,587 (GRCm39) S568P probably benign Het
Smpd3 A G 8: 106,986,371 (GRCm39) L477P probably damaging Het
Spg21 A G 9: 65,387,671 (GRCm39) probably null Het
Spta1 A T 1: 174,020,543 (GRCm39) I551F probably damaging Het
Supt5 A T 7: 28,025,397 (GRCm39) I135N possibly damaging Het
Tacstd2 A G 6: 67,512,170 (GRCm39) F174S probably damaging Het
Tas1r2 A T 4: 139,387,098 (GRCm39) T186S probably damaging Het
Tie1 A G 4: 118,336,248 (GRCm39) Y673H probably damaging Het
Tom1l1 A T 11: 90,561,952 (GRCm39) N190K probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Tox4 C T 14: 52,524,924 (GRCm39) T249I probably damaging Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Vmn1r49 A G 6: 90,049,534 (GRCm39) V156A probably benign Het
Vmn2r13 A T 5: 109,323,065 (GRCm39) F75I probably benign Het
Washc2 T A 6: 116,215,135 (GRCm39) S502T possibly damaging Het
Wnk4 A T 11: 101,164,937 (GRCm39) E755D probably benign Het
Zfp207 T A 11: 80,286,016 (GRCm39) probably benign Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R 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
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
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
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'- GTAGTATGCACCTCTGGCAG -3'
(R):5'- CAAGCCATTGTCCTAAAGGGG -3'

Sequencing Primer
(F):5'- ACCTCTGGCAGCACATAGTTTG -3'
(R):5'- GGGCACTAAAATGAGTCAGTTTCCTC -3'
Posted On 2015-09-25