Incidental Mutation 'R7765:Chn2'
ID 598178
Institutional Source Beutler Lab
Gene Symbol Chn2
Ensembl Gene ENSMUSG00000004633
Gene Name chimerin 2
Synonyms 1700026N20Rik, 4930557O16Rik
MMRRC Submission 045821-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R7765 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 54016917-54278797 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 54275137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046856] [ENSMUST00000067741] [ENSMUST00000114401] [ENSMUST00000114402] [ENSMUST00000146114] [ENSMUST00000203091] [ENSMUST00000203941] [ENSMUST00000204115] [ENSMUST00000204746] [ENSMUST00000204921]
AlphaFold Q80XD1
Predicted Effect probably null
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 null
Transcript: ENSMUST00000067741
SMART Domains Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633

DomainStartEndE-ValueType
C1 79 128 1.88e-15 SMART
RhoGAP 152 329 2.73e-73 SMART
Predicted Effect probably null
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 null
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 probably null
Transcript: ENSMUST00000146114
SMART Domains Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633

DomainStartEndE-ValueType
C1 29 78 1.88e-15 SMART
RhoGAP 102 279 2.73e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203091
SMART Domains Protein: ENSMUSP00000145008
Gene: ENSMUSG00000004633

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

DomainStartEndE-ValueType
RhoGAP 101 225 1.2e-22 SMART
Predicted Effect probably null
Transcript: ENSMUST00000204115
SMART Domains Protein: ENSMUSP00000145507
Gene: ENSMUSG00000004633

DomainStartEndE-ValueType
C1 79 128 9.1e-18 SMART
RhoGAP 101 257 3.7e-14 SMART
Predicted Effect probably null
Transcript: ENSMUST00000204746
SMART Domains Protein: ENSMUSP00000144983
Gene: ENSMUSG00000004633

DomainStartEndE-ValueType
RhoGAP 101 271 4.7e-61 SMART
Predicted Effect probably null
Transcript: ENSMUST00000204921
SMART Domains Protein: ENSMUSP00000145231
Gene: ENSMUSG00000004633

DomainStartEndE-ValueType
C1 79 128 9.1e-18 SMART
RhoGAP 152 283 4.9e-37 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 T C 14: 66,297,345 (GRCm39) E187G probably damaging Het
Adam28 C T 14: 68,846,555 (GRCm39) probably null Het
Ap2a1 G A 7: 44,559,160 (GRCm39) T189M probably damaging Het
Apaf1 A G 10: 90,859,644 (GRCm39) Y845H probably benign Het
Asb14 G T 14: 26,619,718 (GRCm39) V55F probably benign Het
Brap A T 5: 121,800,192 (GRCm39) D71V probably damaging Het
Ccdc93 T G 1: 121,427,042 (GRCm39) F610V probably damaging Het
Cfap46 T G 7: 139,231,480 (GRCm39) D911A Het
Cib3 A G 8: 72,958,269 (GRCm39) F156S probably damaging Het
Csnk2a1-ps3 G A 1: 156,352,354 (GRCm39) G185D possibly damaging Het
Ctif A T 18: 75,738,715 (GRCm39) V164D probably damaging Het
Ddx27 T A 2: 166,869,879 (GRCm39) F405I probably damaging Het
Dnttip2 A G 3: 122,069,594 (GRCm39) T270A probably benign Het
Dst T A 1: 34,314,775 (GRCm39) S4455T probably damaging Het
Efcab8 A G 2: 153,685,110 (GRCm39) K47R Het
Efhd2 T C 4: 141,601,886 (GRCm39) E98G probably damaging Het
Fcmr T A 1: 130,802,025 (GRCm39) L93Q probably damaging Het
Fhdc1 T A 3: 84,351,906 (GRCm39) E1106D probably benign Het
Gcnt1 C T 19: 17,306,723 (GRCm39) G334D probably damaging Het
Hltf T C 3: 20,145,647 (GRCm39) F488L probably benign Het
Hmgxb4 C A 8: 75,727,436 (GRCm39) H140N probably damaging Het
Ifi214 A T 1: 173,352,402 (GRCm39) F342L probably damaging Het
Ip6k1 A G 9: 107,909,288 (GRCm39) D105G possibly damaging Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Kif18a G A 2: 109,137,285 (GRCm39) D506N probably benign Het
Klf17 T A 4: 117,617,812 (GRCm39) M182L probably benign Het
Kmt2d A G 15: 98,750,215 (GRCm39) F2493L unknown Het
Lefty1 A G 1: 180,764,112 (GRCm39) E84G probably damaging Het
Lyst T G 13: 13,884,117 (GRCm39) L2975R possibly damaging Het
Magea5 G A X: 153,837,174 (GRCm39) P73S possibly damaging Het
Mctp2 T C 7: 71,740,079 (GRCm39) probably null Het
Mprip C T 11: 59,649,047 (GRCm39) T917M possibly damaging Het
Myh8 T A 11: 67,194,481 (GRCm39) I1564N probably benign Het
Npc1 A T 18: 12,328,105 (GRCm39) M1068K probably benign Het
Nr2e1 A G 10: 42,450,433 (GRCm39) C60R probably benign Het
Nrxn3 A G 12: 89,780,254 (GRCm39) I29V probably benign Het
Ntsr1 T A 2: 180,180,610 (GRCm39) H305Q probably damaging Het
Or2y1e A G 11: 49,218,571 (GRCm39) E111G probably damaging Het
Or8g35 A G 9: 39,381,612 (GRCm39) S137P probably benign Het
Or8h10 T A 2: 86,808,538 (GRCm39) I201F probably damaging Het
Pate2 A C 9: 35,581,197 (GRCm39) E22D probably benign Het
Pcdhb22 A G 18: 37,652,158 (GRCm39) T209A probably damaging Het
Pdss2 C T 10: 43,340,628 (GRCm39) S352F probably benign Het
Pfn3 T A 13: 55,562,900 (GRCm39) D27V probably damaging Het
Pigg T G 5: 108,461,920 (GRCm39) S84A probably benign Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Prss22 C T 17: 24,213,592 (GRCm39) G233E probably damaging Het
Rad51b T C 12: 79,850,044 (GRCm39) probably null Het
Scn10a A G 9: 119,438,970 (GRCm39) V1632A possibly damaging Het
Serpinb3d T G 1: 107,007,512 (GRCm39) D158A probably damaging Het
Sh3yl1 T C 12: 31,008,868 (GRCm39) L266P probably damaging Het
Sidt2 A T 9: 45,852,873 (GRCm39) probably null Het
Stox1 C T 10: 62,501,778 (GRCm39) V261M probably benign Het
Taf7l2 T A 10: 115,949,158 (GRCm39) K123* probably null Het
Tll1 A G 8: 64,504,483 (GRCm39) Y638H probably damaging Het
Tst A T 15: 78,289,816 (GRCm39) M73K possibly damaging Het
Tuba4a C T 1: 75,193,003 (GRCm39) V232M probably benign Het
Unk T A 11: 115,943,908 (GRCm39) V343D probably benign Het
Usf3 T C 16: 44,039,426 (GRCm39) V1302A probably benign Het
Usp32 A T 11: 84,885,234 (GRCm39) L1271H probably damaging Het
Vwa5b2 C T 16: 20,413,361 (GRCm39) P192L probably benign Het
Zfp995 A G 17: 22,100,984 (GRCm39) Y38H probably damaging 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
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
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'- GCTCCTTCTGGAATGAGATGGG -3'
(R):5'- TTGGAGTCTCCTTTAAAGGGAAAG -3'

Sequencing Primer
(F):5'- GTAAGATGCCCCTTTTGCAACAAAG -3'
(R):5'- GGAAAGAATATTCCCTTCCTTGGC -3'
Posted On 2019-11-26