Incidental Mutation 'R5587:Cluap1'
ID438845
Institutional Source Beutler Lab
Gene Symbol Cluap1
Ensembl Gene ENSMUSG00000014232
Gene Nameclusterin associated protein 1
Synonyms
MMRRC Submission 043141-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5587 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location3908801-3941147 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 3915484 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 199 (V199E)
Ref Sequence ENSEMBL: ENSMUSP00000135826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040881] [ENSMUST00000124849] [ENSMUST00000139294] [ENSMUST00000145150] [ENSMUST00000176233]
Predicted Effect probably damaging
Transcript: ENSMUST00000040881
AA Change: V94E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043397
Gene: ENSMUSG00000014232
AA Change: V94E

DomainStartEndE-ValueType
Pfam:Cluap1 14 283 2.5e-121 PFAM
low complexity region 297 307 N/A INTRINSIC
low complexity region 310 330 N/A INTRINSIC
low complexity region 360 388 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000124849
AA Change: V83E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119490
Gene: ENSMUSG00000014232
AA Change: V83E

DomainStartEndE-ValueType
Pfam:Cluap1 3 206 8.7e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137745
Predicted Effect probably benign
Transcript: ENSMUST00000139294
Predicted Effect probably damaging
Transcript: ENSMUST00000145150
AA Change: V83E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116855
Gene: ENSMUSG00000014232
AA Change: V83E

DomainStartEndE-ValueType
Pfam:Cluap1 3 188 9.9e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146935
Predicted Effect probably damaging
Transcript: ENSMUST00000176233
AA Change: V199E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135826
Gene: ENSMUSG00000093575
AA Change: V199E

DomainStartEndE-ValueType
Pfam:Cluap1 119 282 2.8e-76 PFAM
Meta Mutation Damage Score 0.9463 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 96% (78/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mutant mice exhibit mid-gestation lethality, failure of embryonic turning, enlarged pericardial sacs, neural tube defects and lack primary cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,065,409 R120G probably benign Het
4930548H24Rik G T 5: 31,486,084 G53W probably benign Het
Acad11 A G 9: 104,063,767 T3A probably benign Het
Adamts18 G A 8: 113,775,360 Q290* probably null Het
Ahnak A G 19: 9,009,476 D2708G possibly damaging Het
Asxl3 T A 18: 22,525,247 C2105S probably benign Het
Atp8b1 A T 18: 64,539,210 F1028I probably damaging Het
Axdnd1 C G 1: 156,351,412 W615C probably damaging Het
Bcl3 A T 7: 19,809,634 Y10* probably null Het
Bmp2 T A 2: 133,554,646 V74E possibly damaging Het
Ccdc109b A C 3: 129,916,970 V271G probably benign Het
Ccdc78 C A 17: 25,786,677 P21Q probably benign Het
Cntnap3 T C 13: 64,746,738 E1120G probably damaging Het
Col1a2 T A 6: 4,540,531 W1330R unknown Het
Coq4 A G 2: 29,795,514 probably null Het
Cwf19l1 G A 19: 44,120,877 T346I possibly damaging Het
Cyct T C 2: 76,354,203 Y68C probably damaging Het
Dnah10 T C 5: 124,793,913 L2368P probably benign Het
Dnah2 A T 11: 69,437,242 F3346I probably damaging Het
Dpp3 A T 19: 4,918,267 V259E probably damaging Het
Dpyd A C 3: 119,064,951 S605R probably damaging Het
Emc1 A G 4: 139,362,148 E209G probably damaging Het
Esrra A G 19: 6,920,207 S61P probably benign Het
Fam71d C A 12: 78,715,075 P171H probably damaging Het
Gbx2 T A 1: 89,933,122 probably benign Het
Hepacam A G 9: 37,384,684 H377R probably damaging Het
Igkv12-46 T C 6: 69,764,550 Y107C probably damaging Het
Intu A G 3: 40,675,308 D356G probably damaging Het
Izumo4 A T 10: 80,703,220 N113Y probably damaging Het
Krt86 G A 15: 101,473,593 A15T probably benign Het
Lhx8 A T 3: 154,311,679 S275R probably damaging Het
Lingo3 A T 10: 80,835,530 S189T probably damaging Het
Llgl1 T A 11: 60,710,342 M702K probably benign Het
Lpin1 T C 12: 16,573,714 Y223C probably damaging Het
Lrit3 G T 3: 129,788,898 A359E probably benign Het
Lrp2 T C 2: 69,499,263 E1720G probably benign Het
Nktr C T 9: 121,748,489 probably benign Het
Olfr1342 T A 4: 118,689,870 D194V probably damaging Het
Olfr1502 G A 19: 13,862,576 R261H probably damaging Het
Olfr347 A T 2: 36,734,621 Q100L probably damaging Het
Olfr617 T A 7: 103,584,531 Y170N probably benign Het
Olfr979 A T 9: 40,000,621 I202N possibly damaging Het
Olfr984 A T 9: 40,101,244 L82Q probably damaging Het
Pcdha4 T C 18: 36,954,822 V686A probably benign Het
Pelo A G 13: 115,089,873 V16A possibly damaging Het
Plcd1 A G 9: 119,073,832 S539P probably benign Het
Prss1 A G 6: 41,463,265 I179V possibly damaging Het
Ptgs2 T C 1: 150,105,555 Y530H probably damaging Het
Rai1 T C 11: 60,189,859 V1583A probably damaging Het
Raph1 T G 1: 60,498,473 D508A probably damaging Het
Rmnd5a A G 6: 71,394,619 probably benign Het
Rsf1 T C 7: 97,662,121 L686P probably benign Het
Samd9l T C 6: 3,373,291 I1323M possibly damaging Het
Scn1a T C 2: 66,273,081 N1934S probably benign Het
Sec23ip C T 7: 128,750,427 H176Y probably benign Het
Sh3glb2 A G 2: 30,354,851 probably null Het
Sis A G 3: 72,914,576 I1384T possibly damaging Het
Spata31d1a A C 13: 59,702,618 C565W probably damaging Het
Srbd1 T A 17: 86,127,801 Q278L probably damaging Het
Sry T C Y: 2,662,625 H345R unknown Het
Suox A T 10: 128,671,825 D111E probably damaging Het
Taar7a A T 10: 23,992,828 F218L probably benign Het
Tfcp2l1 C A 1: 118,664,762 N288K possibly damaging Het
Tmem128 G T 5: 38,260,421 R7L possibly damaging Het
Tmem266 A G 9: 55,437,566 N494S probably damaging Het
Tmprss3 T A 17: 31,193,992 H80L probably benign Het
Tnrc6c C T 11: 117,749,271 Q1211* probably null Het
Tns1 T A 1: 73,920,596 D1671V possibly damaging Het
Trmt1l T A 1: 151,435,704 probably benign Het
Tshz2 A T 2: 169,884,342 D286V probably damaging Het
Ttyh2 A G 11: 114,675,659 E39G probably benign Het
Vmn2r125 G A 4: 156,350,138 C73Y probably damaging Het
Vmn2r5 T C 3: 64,504,076 D357G probably damaging Het
Vmn2r61 T C 7: 42,300,487 F777S probably damaging Het
Vmn2r9 T C 5: 108,847,561 E407G probably damaging Het
Vwa3a A G 7: 120,780,235 N521S probably damaging Het
Zan C G 5: 137,391,762 S4816T unknown Het
Zc3h7b T C 15: 81,771,858 Y136H possibly damaging Het
Zfp101 T C 17: 33,381,321 K487R possibly damaging Het
Other mutations in Cluap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0304:Cluap1 UTSW 16 3929918 unclassified probably benign
R0545:Cluap1 UTSW 16 3933772 missense probably damaging 0.96
R1459:Cluap1 UTSW 16 3937589 missense probably damaging 1.00
R1511:Cluap1 UTSW 16 3919558 missense probably benign
R2136:Cluap1 UTSW 16 3933772 missense probably damaging 0.96
R3027:Cluap1 UTSW 16 3911532 nonsense probably null
R3926:Cluap1 UTSW 16 3911534 missense probably damaging 0.99
R4386:Cluap1 UTSW 16 3933722 missense possibly damaging 0.70
R4587:Cluap1 UTSW 16 3933816 critical splice donor site probably null
R6010:Cluap1 UTSW 16 3937573 missense possibly damaging 0.91
R6169:Cluap1 UTSW 16 3928561 missense possibly damaging 0.50
R6181:Cluap1 UTSW 16 3933744 missense probably benign
R6194:Cluap1 UTSW 16 3929906 missense probably benign
R6492:Cluap1 UTSW 16 3928612 missense probably benign 0.03
R7091:Cluap1 UTSW 16 3940806 missense probably benign 0.01
R7131:Cluap1 UTSW 16 3940775 missense probably benign 0.00
R7248:Cluap1 UTSW 16 3919500 missense possibly damaging 0.76
R7421:Cluap1 UTSW 16 3940793 missense probably damaging 0.99
R7719:Cluap1 UTSW 16 3909603 intron probably null
R8280:Cluap1 UTSW 16 3911153 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GACATTCTCAAATTCCCTGCATG -3'
(R):5'- GCCACGTTTGAGACACAGAC -3'

Sequencing Primer
(F):5'- CTTCAGGGTATGCTTCAGATTACAG -3'
(R):5'- GACATCTGCTAGCCACAGACTTC -3'
Posted On2016-10-26