Incidental Mutation 'R5078:Camkv'
ID386966
Institutional Source Beutler Lab
Gene Symbol Camkv
Ensembl Gene ENSMUSG00000032936
Gene NameCaM kinase-like vesicle-associated
Synonyms
MMRRC Submission 042667-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5078 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location107935674-107949691 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107945373 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 29 (V29A)
Ref Sequence ENSEMBL: ENSMUSP00000141444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035700] [ENSMUST00000193533] [ENSMUST00000194206] [ENSMUST00000195219]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035700
AA Change: V29A

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040430
Gene: ENSMUSG00000032936
AA Change: V29A

DomainStartEndE-ValueType
S_TKc 24 286 4.21e-81 SMART
low complexity region 332 385 N/A INTRINSIC
internal_repeat_1 392 425 3.43e-15 PROSPERO
internal_repeat_1 416 449 3.43e-15 PROSPERO
low complexity region 461 478 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192318
Predicted Effect unknown
Transcript: ENSMUST00000193533
AA Change: V29A
Predicted Effect probably damaging
Transcript: ENSMUST00000194206
AA Change: V29A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141444
Gene: ENSMUSG00000032936
AA Change: V29A

DomainStartEndE-ValueType
STYKc 24 258 2.3e-8 SMART
low complexity region 304 357 N/A INTRINSIC
internal_repeat_1 364 397 2.93e-15 PROSPERO
internal_repeat_1 388 421 2.93e-15 PROSPERO
low complexity region 433 450 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194538
Predicted Effect possibly damaging
Transcript: ENSMUST00000195219
AA Change: V29A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.124 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 T C 16: 4,323,907 S345G probably benign Het
Adgrf2 A T 17: 42,710,986 F316I probably damaging Het
Ank2 A G 3: 126,942,353 probably benign Het
Auts2 T C 5: 132,258,947 K66E possibly damaging Het
Bicra T C 7: 15,975,457 D1144G probably damaging Het
Cabin1 A G 10: 75,721,478 S1109P probably damaging Het
Ccdc178 A T 18: 22,067,628 probably null Het
Ccser1 G A 6: 61,311,366 R171H probably damaging Het
Cdk19 A G 10: 40,436,154 Y133C probably damaging Het
Cerkl T A 2: 79,393,008 D123V probably benign Het
Chd1 T C 17: 15,726,354 S121P possibly damaging Het
Col4a2 T C 8: 11,443,936 V1459A probably benign Het
Dlg1 T A 16: 31,856,469 Y704* probably null Het
Dsg2 T C 18: 20,596,083 probably null Het
Egln3 T C 12: 54,181,667 R218G probably damaging Het
Gm11568 T C 11: 99,858,355 C129R unknown Het
Gm13991 T C 2: 116,527,874 noncoding transcript Het
Gmnc C A 16: 26,965,582 V58L probably benign Het
Gpx5 A G 13: 21,288,711 F151S probably damaging Het
Helz G A 11: 107,656,096 G1079R probably damaging Het
Ice1 T C 13: 70,604,850 E1039G probably benign Het
Kif18a T C 2: 109,295,142 probably benign Het
Klhl29 T C 12: 5,093,530 T500A possibly damaging Het
Lrfn5 A C 12: 61,843,874 K650Q possibly damaging Het
Lrp2 T C 2: 69,501,530 D1627G possibly damaging Het
Nxn T C 11: 76,261,607 K354E probably damaging Het
Olfr1165-ps T A 2: 88,101,535 I151L probably benign Het
Pcnx2 T C 8: 125,752,156 T2118A probably benign Het
Phldb2 A G 16: 45,777,742 F861L possibly damaging Het
Piezo2 A G 18: 63,024,536 Y2368H probably damaging Het
Pnp T A 14: 50,951,506 L252* probably null Het
Prom2 T C 2: 127,531,837 Q641R probably benign Het
Prpf31 T C 7: 3,634,703 S180P possibly damaging Het
Prss27 C A 17: 24,044,440 Y142* probably null Het
Ripk1 T G 13: 34,017,099 M265R probably damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Ropn1 T A 16: 34,666,791 D32E probably damaging Het
Rps23 T C 13: 90,923,703 F41L probably benign Het
Sec24d A G 3: 123,290,552 I127V probably benign Het
Selenot C T 3: 58,585,271 R60W probably damaging Het
Tll1 T C 8: 64,093,887 K342E probably damaging Het
Tlx1 A T 19: 45,156,021 N61Y probably damaging Het
Vmn2r117 T A 17: 23,460,148 I701F probably damaging Het
Zmynd12 A G 4: 119,444,850 K229E probably damaging Het
Other mutations in Camkv
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0288:Camkv UTSW 9 107946356 missense probably damaging 1.00
R0834:Camkv UTSW 9 107945846 missense probably damaging 1.00
R1919:Camkv UTSW 9 107947088 missense possibly damaging 0.89
R1996:Camkv UTSW 9 107947121 missense probably damaging 1.00
R2165:Camkv UTSW 9 107945600 missense possibly damaging 0.48
R3943:Camkv UTSW 9 107947983 missense possibly damaging 0.70
R4006:Camkv UTSW 9 107946641 missense probably damaging 1.00
R4357:Camkv UTSW 9 107947946 missense probably benign 0.27
R4406:Camkv UTSW 9 107946219 critical splice donor site probably null
R4601:Camkv UTSW 9 107946096 missense probably damaging 0.99
R5175:Camkv UTSW 9 107947382 missense probably damaging 1.00
R5373:Camkv UTSW 9 107946889 missense probably benign 0.05
R5379:Camkv UTSW 9 107945346 missense probably damaging 0.99
R5480:Camkv UTSW 9 107946875 missense probably damaging 1.00
R5484:Camkv UTSW 9 107946146 missense probably damaging 1.00
R6335:Camkv UTSW 9 107946695 critical splice donor site probably null
R6730:Camkv UTSW 9 107948317 missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- AAGCAGTGTCGATCAGTATTTACC -3'
(R):5'- CTTACAGGTGTGCAGCTTGC -3'

Sequencing Primer
(F):5'- TGAGCTGAGTTTCCCAAAAGC -3'
(R):5'- GTGCAGCTTGCCCGTTGTC -3'
Posted On2016-06-06