Incidental Mutation 'R5587:Cluap1'
ID 438845
Institutional Source Beutler Lab
Gene Symbol Cluap1
Ensembl Gene ENSMUSG00000014232
Gene Name clusterin associated protein 1
Synonyms 2310030D15Rik, 2610111M03Rik
MMRRC Submission 043141-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5587 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 3726665-3759011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3733348 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8R3P7
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: 137,771,170 (GRCm39) R120G probably benign Het
Acad11 A G 9: 103,940,966 (GRCm39) T3A probably benign Het
Adamts18 G A 8: 114,501,992 (GRCm39) Q290* probably null Het
Ahnak A G 19: 8,986,840 (GRCm39) D2708G possibly damaging Het
Asxl3 T A 18: 22,658,304 (GRCm39) C2105S probably benign Het
Atp8b1 A T 18: 64,672,281 (GRCm39) F1028I probably damaging Het
Axdnd1 C G 1: 156,178,982 (GRCm39) W615C probably damaging Het
Bcl3 A T 7: 19,543,559 (GRCm39) Y10* probably null Het
Bmp2 T A 2: 133,396,566 (GRCm39) V74E possibly damaging Het
Ccdc121 G T 5: 31,643,428 (GRCm39) G53W probably benign Het
Ccdc78 C A 17: 26,005,651 (GRCm39) P21Q probably benign Het
Cntnap3 T C 13: 64,894,552 (GRCm39) E1120G probably damaging Het
Col1a2 T A 6: 4,540,531 (GRCm39) W1330R unknown Het
Coq4 A G 2: 29,685,526 (GRCm39) probably null Het
Cwf19l1 G A 19: 44,109,316 (GRCm39) T346I possibly damaging Het
Cyct T C 2: 76,184,547 (GRCm39) Y68C probably damaging Het
Dnah10 T C 5: 124,870,977 (GRCm39) L2368P probably benign Het
Dnah2 A T 11: 69,328,068 (GRCm39) F3346I probably damaging Het
Dpp3 A T 19: 4,968,295 (GRCm39) V259E probably damaging Het
Dpyd A C 3: 118,858,600 (GRCm39) S605R probably damaging Het
Emc1 A G 4: 139,089,459 (GRCm39) E209G probably damaging Het
Esrra A G 19: 6,897,575 (GRCm39) S61P probably benign Het
Garin2 C A 12: 78,761,849 (GRCm39) P171H probably damaging Het
Gbx2 T A 1: 89,860,844 (GRCm39) probably benign Het
Hepacam A G 9: 37,295,980 (GRCm39) H377R probably damaging Het
Igkv12-46 T C 6: 69,741,534 (GRCm39) Y107C probably damaging Het
Intu A G 3: 40,629,738 (GRCm39) D356G probably damaging Het
Izumo4 A T 10: 80,539,054 (GRCm39) N113Y probably damaging Het
Krt86 G A 15: 101,371,474 (GRCm39) A15T probably benign Het
Lhx8 A T 3: 154,017,316 (GRCm39) S275R probably damaging Het
Lingo3 A T 10: 80,671,364 (GRCm39) S189T probably damaging Het
Llgl1 T A 11: 60,601,168 (GRCm39) M702K probably benign Het
Lpin1 T C 12: 16,623,715 (GRCm39) Y223C Het
Lrit3 G T 3: 129,582,547 (GRCm39) A359E probably benign Het
Lrp2 T C 2: 69,329,607 (GRCm39) E1720G probably benign Het
Mcub A C 3: 129,710,619 (GRCm39) V271G probably benign Het
Nktr C T 9: 121,577,555 (GRCm39) probably benign Het
Or10g9 A T 9: 39,911,917 (GRCm39) I202N possibly damaging Het
Or13p4 T A 4: 118,547,067 (GRCm39) D194V probably damaging Het
Or1j18 A T 2: 36,624,633 (GRCm39) Q100L probably damaging Het
Or4d5 A T 9: 40,012,540 (GRCm39) L82Q probably damaging Het
Or52z12 T A 7: 103,233,738 (GRCm39) Y170N probably benign Het
Or9i1 G A 19: 13,839,940 (GRCm39) R261H probably damaging Het
Pcdha4 T C 18: 37,087,875 (GRCm39) V686A probably benign Het
Pelo A G 13: 115,226,409 (GRCm39) V16A possibly damaging Het
Plcd1 A G 9: 118,902,900 (GRCm39) S539P probably benign Het
Prss1 A G 6: 41,440,199 (GRCm39) I179V possibly damaging Het
Ptgs2 T C 1: 149,981,306 (GRCm39) Y530H probably damaging Het
Rai1 T C 11: 60,080,685 (GRCm39) V1583A probably damaging Het
Raph1 T G 1: 60,537,632 (GRCm39) D508A probably damaging Het
Rmnd5a A G 6: 71,371,603 (GRCm39) probably benign Het
Rsf1 T C 7: 97,311,328 (GRCm39) L686P probably benign Het
Samd9l T C 6: 3,373,291 (GRCm39) I1323M possibly damaging Het
Scn1a T C 2: 66,103,425 (GRCm39) N1934S probably benign Het
Sec23ip C T 7: 128,352,151 (GRCm39) H176Y probably benign Het
Sh3glb2 A G 2: 30,244,863 (GRCm39) probably null Het
Sis A G 3: 72,821,909 (GRCm39) I1384T possibly damaging Het
Spata31d1a A C 13: 59,850,432 (GRCm39) C565W probably damaging Het
Srbd1 T A 17: 86,435,229 (GRCm39) Q278L probably damaging Het
Sry T C Y: 2,662,625 (GRCm39) H345R unknown Het
Suox A T 10: 128,507,694 (GRCm39) D111E probably damaging Het
Taar7a A T 10: 23,868,726 (GRCm39) F218L probably benign Het
Tfcp2l1 C A 1: 118,592,492 (GRCm39) N288K possibly damaging Het
Tmem128 G T 5: 38,417,765 (GRCm39) R7L possibly damaging Het
Tmem266 A G 9: 55,344,850 (GRCm39) N494S probably damaging Het
Tmprss3 T A 17: 31,412,966 (GRCm39) H80L probably benign Het
Tnrc6c C T 11: 117,640,097 (GRCm39) Q1211* probably null Het
Tns1 T A 1: 73,959,755 (GRCm39) D1671V possibly damaging Het
Trmt1l T A 1: 151,311,455 (GRCm39) probably benign Het
Tshz2 A T 2: 169,726,262 (GRCm39) D286V probably damaging Het
Ttyh2 A G 11: 114,566,485 (GRCm39) E39G probably benign Het
Vmn2r125 G A 4: 156,702,433 (GRCm39) C73Y probably damaging Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vmn2r61 T C 7: 41,949,911 (GRCm39) F777S probably damaging Het
Vmn2r9 T C 5: 108,995,427 (GRCm39) E407G probably damaging Het
Vwa3a A G 7: 120,379,458 (GRCm39) N521S probably damaging Het
Zan C G 5: 137,390,024 (GRCm39) S4816T unknown Het
Zc3h7b T C 15: 81,656,059 (GRCm39) Y136H possibly damaging Het
Zfp101 T C 17: 33,600,295 (GRCm39) K487R possibly damaging Het
Other mutations in Cluap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0304:Cluap1 UTSW 16 3,747,782 (GRCm39) unclassified probably benign
R0545:Cluap1 UTSW 16 3,751,636 (GRCm39) missense probably damaging 0.96
R1459:Cluap1 UTSW 16 3,755,453 (GRCm39) missense probably damaging 1.00
R1511:Cluap1 UTSW 16 3,737,422 (GRCm39) missense probably benign
R2136:Cluap1 UTSW 16 3,751,636 (GRCm39) missense probably damaging 0.96
R3027:Cluap1 UTSW 16 3,729,396 (GRCm39) nonsense probably null
R3926:Cluap1 UTSW 16 3,729,398 (GRCm39) missense probably damaging 0.99
R4386:Cluap1 UTSW 16 3,751,586 (GRCm39) missense possibly damaging 0.70
R4587:Cluap1 UTSW 16 3,751,680 (GRCm39) critical splice donor site probably null
R6010:Cluap1 UTSW 16 3,755,437 (GRCm39) missense possibly damaging 0.91
R6169:Cluap1 UTSW 16 3,746,425 (GRCm39) missense possibly damaging 0.50
R6181:Cluap1 UTSW 16 3,751,608 (GRCm39) missense probably benign
R6194:Cluap1 UTSW 16 3,747,770 (GRCm39) missense probably benign
R6492:Cluap1 UTSW 16 3,746,476 (GRCm39) missense probably benign 0.03
R7091:Cluap1 UTSW 16 3,758,670 (GRCm39) missense probably benign 0.01
R7131:Cluap1 UTSW 16 3,758,639 (GRCm39) missense probably benign 0.00
R7248:Cluap1 UTSW 16 3,737,364 (GRCm39) missense possibly damaging 0.76
R7421:Cluap1 UTSW 16 3,758,657 (GRCm39) missense probably damaging 0.99
R7719:Cluap1 UTSW 16 3,727,467 (GRCm39) splice site probably null
R7991:Cluap1 UTSW 16 3,746,485 (GRCm39) missense probably damaging 0.98
R8280:Cluap1 UTSW 16 3,729,017 (GRCm39) unclassified probably benign
R8459:Cluap1 UTSW 16 3,755,453 (GRCm39) missense probably damaging 1.00
R8790:Cluap1 UTSW 16 3,735,787 (GRCm39) critical splice donor site probably benign
R8964:Cluap1 UTSW 16 3,729,334 (GRCm39) unclassified probably benign
R9491:Cluap1 UTSW 16 3,758,732 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GACATTCTCAAATTCCCTGCATG -3'
(R):5'- GCCACGTTTGAGACACAGAC -3'

Sequencing Primer
(F):5'- CTTCAGGGTATGCTTCAGATTACAG -3'
(R):5'- GACATCTGCTAGCCACAGACTTC -3'
Posted On 2016-10-26