Incidental Mutation 'R7808:Caprin2'
ID600931
Institutional Source Beutler Lab
Gene Symbol Caprin2
Ensembl Gene ENSMUSG00000030309
Gene Namecaprin family member 2
SynonymsC1qdc1, Eeg1, RNG140
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7808 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location148842492-148896237 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 148843030 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 966 (V966F)
Ref Sequence ENSEMBL: ENSMUSP00000107195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072324] [ENSMUST00000111569]
Predicted Effect probably damaging
Transcript: ENSMUST00000072324
AA Change: V747F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072165
Gene: ENSMUSG00000030309
AA Change: V747F

DomainStartEndE-ValueType
coiled coil region 48 125 N/A INTRINSIC
coiled coil region 239 264 N/A INTRINSIC
Pfam:Caprin-1_C 317 618 1.2e-32 PFAM
C1Q 676 812 1.27e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111569
AA Change: V966F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107195
Gene: ENSMUSG00000030309
AA Change: V966F

DomainStartEndE-ValueType
coiled coil region 48 125 N/A INTRINSIC
coiled coil region 239 264 N/A INTRINSIC
low complexity region 330 344 N/A INTRINSIC
Pfam:Caprin-1_C 536 836 2.9e-106 PFAM
C1Q 895 1031 1.27e-35 SMART
Predicted Effect
Meta Mutation Damage Score 0.2086 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (86/87)
MGI Phenotype FUNCTION: This gene encodes a member of the caprin family. The encoded protein may function as an RNA-binding protein that induces the formation of RNA granules and plays an important role in brain function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110051M20Rik T C 2: 91,444,594 probably benign Het
1700113H08Rik T C 10: 87,121,435 V11A probably benign Het
Abca12 A T 1: 71,274,634 probably null Het
Abcc12 T A 8: 86,507,939 M1232L probably benign Het
Adamts1 T C 16: 85,800,229 Y314C probably damaging Het
Adgb A G 10: 10,378,659 probably null Het
Ankrd12 T A 17: 65,985,653 K928N possibly damaging Het
Ano5 A T 7: 51,587,795 K789I possibly damaging Het
Cacna1d G T 14: 30,111,069 N938K probably damaging Het
Camk1g T C 1: 193,350,285 R273G possibly damaging Het
Card6 T C 15: 5,099,472 H814R probably benign Het
Ccdc84 T C 9: 44,412,918 Q228R probably null Het
Cflar A G 1: 58,711,581 probably benign Het
Cftr T A 6: 18,204,205 N66K probably benign Het
Clasrp C T 7: 19,588,746 probably null Het
Clec4a4 T C 6: 122,990,380 I5T probably damaging Het
Cmtr2 T C 8: 110,221,619 I187T possibly damaging Het
Cnga1 A T 5: 72,604,273 F633I possibly damaging Het
Col16a1 C T 4: 130,073,264 P909S unknown Het
Csf1 C A 3: 107,760,045 A7S possibly damaging Het
Dhx30 A T 9: 110,086,202 V833D probably benign Het
Dlg2 T G 7: 92,431,055 I712M probably benign Het
Dmxl1 T A 18: 49,878,315 F1180I probably benign Het
Dnah9 T A 11: 66,005,805 K2398* probably null Het
Dus1l C T 11: 120,789,436 G471D possibly damaging Het
Dync1h1 A T 12: 110,655,459 N3412I possibly damaging Het
Dync1i2 T A 2: 71,250,834 probably null Het
Dysf T C 6: 84,070,929 S333P possibly damaging Het
Eed A T 7: 89,956,333 N349K probably benign Het
Eipr1 A T 12: 28,766,770 probably null Het
Fam160a2 G A 7: 105,384,525 R509C probably damaging Het
Fbxw16 A C 9: 109,448,154 V40G probably damaging Het
Fgfr4 A C 13: 55,161,156 R363S possibly damaging Het
Fgl2 A T 5: 21,373,231 N172I possibly damaging Het
Gabbr2 T A 4: 46,875,744 H126L possibly damaging Het
Gcnt2 A T 13: 40,860,862 N170Y possibly damaging Het
Gpt A G 15: 76,698,893 probably null Het
Igsf10 A G 3: 59,328,068 I1564T probably benign Het
Il22ra1 C A 4: 135,750,796 Q393K possibly damaging Het
Inpp5d A T 1: 87,683,845 K340* probably null Het
Jcad A G 18: 4,673,113 K292E probably damaging Het
Krt5 T A 15: 101,709,018 T427S probably benign Het
Krt76 T C 15: 101,890,494 D252G probably damaging Het
Krtap26-1 A G 16: 88,647,310 V141A not run Het
Lce6a A T 3: 92,620,335 V55D probably benign Het
Lpxn C T 19: 12,824,821 S170F possibly damaging Het
Magi2 T C 5: 20,465,840 V394A probably benign Het
Mbnl1 G A 3: 60,614,821 probably null Het
Med16 T A 10: 79,898,418 K554M probably damaging Het
Mettl14 T C 3: 123,372,585 D276G possibly damaging Het
Mphosph9 T C 5: 124,260,946 D1002G probably damaging Het
Mroh9 T C 1: 163,039,109 E686G probably damaging Het
Nav1 T C 1: 135,452,248 Y1512C unknown Het
Neb T C 2: 52,192,023 Y5712C probably damaging Het
Nek7 T A 1: 138,561,771 probably benign Het
Nptx1 T A 11: 119,544,636 I285F probably damaging Het
Oas1d G T 5: 120,914,971 E30* probably null Het
Olfr404-ps1 A T 11: 74,239,899 I112F probably damaging Het
Olfr429 C A 1: 174,089,851 Y270* probably null Het
Olfr577 A G 7: 102,973,110 V294A possibly damaging Het
Parp4 T G 14: 56,635,748 S1150A possibly damaging Het
Pinx1 A T 14: 63,919,292 K223* probably null Het
Plekha5 T C 6: 140,583,914 L1034S probably damaging Het
Ppp4r3a A G 12: 101,053,496 V400A possibly damaging Het
Prtg A T 9: 72,842,697 I128F possibly damaging Het
Rars T C 11: 35,828,707 E96G probably benign Het
Rhpn1 T A 15: 75,713,450 S551T probably benign Het
Selenow C T 7: 15,922,251 probably null Het
Serpina9 A T 12: 104,001,225 probably null Het
Shank3 A T 15: 89,548,880 D1276V probably damaging Het
Slc17a2 A C 13: 23,819,334 H285P probably damaging Het
Slc27a6 A G 18: 58,609,195 T494A probably damaging Het
Slc6a21 A C 7: 45,282,936 T54P Het
Syne2 A G 12: 75,983,727 probably null Het
Tal1 T C 4: 115,068,292 V186A probably benign Het
Tarsl2 A G 7: 65,652,261 K178E probably benign Het
Tex10 T A 4: 48,459,984 I456L probably benign Het
Tfcp2 A G 15: 100,522,429 F175S probably damaging Het
Timp2 C T 11: 118,303,800 A188T probably damaging Het
Tmc5 T A 7: 118,669,217 I836N probably damaging Het
Tmem100 T A 11: 90,035,476 M43K probably benign Het
Ulk2 A G 11: 61,854,552 Y9H probably damaging Het
Usp7 T C 16: 8,705,163 K311E probably damaging Het
Vmn1r238 G A 18: 3,123,033 T127I probably benign Het
Vmn2r28 T C 7: 5,493,679 Y58C probably damaging Het
Wdr55 G A 18: 36,760,416 G44S probably benign Het
Zfp677 C A 17: 21,397,385 H235N probably damaging Het
Zfp869 T A 8: 69,706,986 R312S probably damaging Het
Other mutations in Caprin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Caprin2 APN 6 148843071 missense probably damaging 1.00
IGL01364:Caprin2 APN 6 148873028 missense probably benign 0.00
IGL02738:Caprin2 APN 6 148842862 missense probably damaging 1.00
IGL02819:Caprin2 APN 6 148848258 missense probably damaging 0.99
IGL03117:Caprin2 APN 6 148862466 missense possibly damaging 0.91
IGL03123:Caprin2 APN 6 148895007 missense probably damaging 1.00
IGL03378:Caprin2 APN 6 148877854 missense probably benign 0.23
R0242:Caprin2 UTSW 6 148842954 missense probably damaging 1.00
R0242:Caprin2 UTSW 6 148842954 missense probably damaging 1.00
R0621:Caprin2 UTSW 6 148858678 missense possibly damaging 0.94
R0930:Caprin2 UTSW 6 148883511 splice site probably null
R1540:Caprin2 UTSW 6 148876471 missense probably benign 0.01
R1591:Caprin2 UTSW 6 148873108 missense possibly damaging 0.94
R1763:Caprin2 UTSW 6 148843121 missense probably damaging 1.00
R1885:Caprin2 UTSW 6 148877885 splice site probably null
R2027:Caprin2 UTSW 6 148877887 missense probably damaging 0.98
R2867:Caprin2 UTSW 6 148846240 synonymous silent
R4856:Caprin2 UTSW 6 148873011 missense probably benign 0.19
R5580:Caprin2 UTSW 6 148858734 missense possibly damaging 0.79
R5696:Caprin2 UTSW 6 148877818 missense possibly damaging 0.49
R5765:Caprin2 UTSW 6 148843168 missense probably damaging 1.00
R5778:Caprin2 UTSW 6 148869322 missense probably benign
R5961:Caprin2 UTSW 6 148863540 missense probably damaging 1.00
R6255:Caprin2 UTSW 6 148877892 missense probably benign 0.28
R6440:Caprin2 UTSW 6 148869645 missense probably damaging 1.00
R6997:Caprin2 UTSW 6 148877976 missense probably damaging 1.00
R7034:Caprin2 UTSW 6 148848205 missense possibly damaging 0.64
R7344:Caprin2 UTSW 6 148873067 missense probably benign 0.02
R7632:Caprin2 UTSW 6 148883456 missense probably damaging 1.00
R8075:Caprin2 UTSW 6 148869092 missense probably benign 0.03
R8083:Caprin2 UTSW 6 148842848 nonsense probably null
R8128:Caprin2 UTSW 6 148883442 splice site probably null
R8393:Caprin2 UTSW 6 148869152 missense probably benign 0.01
R8839:Caprin2 UTSW 6 148873027 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTTTTCCTTAGATCCACTAGTGAG -3'
(R):5'- ATCCAATCTGGCTCCTGGAAC -3'

Sequencing Primer
(F):5'- CCTTAGATCCACTAGTGAGAACTTC -3'
(R):5'- AATCTGGCTCCTGGAACTTTAGAC -3'
Posted On2019-11-26