Incidental Mutation 'R5834:Camsap2'
ID 449436
Institutional Source Beutler Lab
Gene Symbol Camsap2
Ensembl Gene ENSMUSG00000041570
Gene Name calmodulin regulated spectrin-associated protein family, member 2
Synonyms 1600013L13Rik, 4930541M15Rik, Camsap1l1
MMRRC Submission 044055-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.671) question?
Stock # R5834 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 136195861-136273842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136208126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1122 (V1122A)
Ref Sequence ENSEMBL: ENSMUSP00000142299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048309] [ENSMUST00000192001] [ENSMUST00000192314]
AlphaFold Q8C1B1
Predicted Effect probably benign
Transcript: ENSMUST00000048309
AA Change: V1128A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: V1128A

DomainStartEndE-ValueType
Pfam:CAMSAP_CH 239 322 3.6e-37 PFAM
low complexity region 379 388 N/A INTRINSIC
low complexity region 397 410 N/A INTRINSIC
low complexity region 483 491 N/A INTRINSIC
low complexity region 671 690 N/A INTRINSIC
low complexity region 706 711 N/A INTRINSIC
Pfam:CAMSAP_CC1 738 795 7.3e-28 PFAM
coiled coil region 878 916 N/A INTRINSIC
low complexity region 922 929 N/A INTRINSIC
low complexity region 943 956 N/A INTRINSIC
low complexity region 1028 1043 N/A INTRINSIC
low complexity region 1093 1107 N/A INTRINSIC
coiled coil region 1155 1227 N/A INTRINSIC
low complexity region 1242 1256 N/A INTRINSIC
CAMSAP_CKK 1337 1466 1.59e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192001
AA Change: V1111A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: V1111A

DomainStartEndE-ValueType
Pfam:CH 178 324 1.1e-37 PFAM
Pfam:CAMSAP_CH 222 305 2.7e-36 PFAM
low complexity region 362 371 N/A INTRINSIC
low complexity region 380 393 N/A INTRINSIC
low complexity region 466 474 N/A INTRINSIC
low complexity region 654 673 N/A INTRINSIC
low complexity region 689 694 N/A INTRINSIC
coiled coil region 729 767 N/A INTRINSIC
coiled coil region 861 899 N/A INTRINSIC
low complexity region 905 912 N/A INTRINSIC
low complexity region 926 939 N/A INTRINSIC
low complexity region 1011 1026 N/A INTRINSIC
low complexity region 1076 1090 N/A INTRINSIC
coiled coil region 1138 1210 N/A INTRINSIC
low complexity region 1225 1239 N/A INTRINSIC
CAMSAP_CKK 1320 1449 1.59e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192314
AA Change: V1122A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: V1122A

DomainStartEndE-ValueType
Pfam:CH 178 335 1.2e-35 PFAM
Pfam:CAMSAP_CH 233 316 3.2e-34 PFAM
low complexity region 373 382 N/A INTRINSIC
low complexity region 391 404 N/A INTRINSIC
low complexity region 477 485 N/A INTRINSIC
low complexity region 665 684 N/A INTRINSIC
low complexity region 700 705 N/A INTRINSIC
coiled coil region 740 778 N/A INTRINSIC
coiled coil region 872 910 N/A INTRINSIC
low complexity region 916 923 N/A INTRINSIC
low complexity region 937 950 N/A INTRINSIC
low complexity region 1022 1037 N/A INTRINSIC
low complexity region 1087 1101 N/A INTRINSIC
coiled coil region 1149 1221 N/A INTRINSIC
low complexity region 1236 1250 N/A INTRINSIC
CAMSAP_CKK 1331 1460 1.2e-90 SMART
Predicted Effect unknown
Transcript: ENSMUST00000194808
AA Change: V454A
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,227,974 (GRCm39) probably null Het
Adamts20 A C 15: 94,251,465 (GRCm39) S441A probably damaging Het
Aen T A 7: 78,557,049 (GRCm39) M299K probably damaging Het
Akap3 T C 6: 126,842,796 (GRCm39) S472P probably benign Het
Ank3 T G 10: 69,658,087 (GRCm39) V158G probably damaging Het
Arfgap1 A G 2: 180,622,955 (GRCm39) D324G probably benign Het
Aste1 A T 9: 105,280,614 (GRCm39) R448S probably benign Het
Atp10a T A 7: 58,308,366 (GRCm39) L55Q probably benign Het
C1qtnf9 G A 14: 61,016,899 (GRCm39) G143D probably damaging Het
Cbl T C 9: 44,145,076 (GRCm39) H37R probably damaging Het
Cfap61 A C 2: 145,971,069 (GRCm39) D893A probably benign Het
Chd2 T A 7: 73,128,463 (GRCm39) I841F probably damaging Het
Chd9 A G 8: 91,723,792 (GRCm39) T622A probably damaging Het
Cntnap3 A G 13: 64,896,391 (GRCm39) Y1028H probably benign Het
Crybg2 A G 4: 133,801,434 (GRCm39) T865A probably benign Het
Cyp2c55 A G 19: 39,030,511 (GRCm39) I448V probably benign Het
Cyth1 T A 11: 118,083,289 (GRCm39) probably null Het
Dcaf13 C T 15: 39,007,037 (GRCm39) R324* probably null Het
Dhx37 C A 5: 125,502,794 (GRCm39) R42L probably damaging Het
Dock1 T A 7: 134,365,662 (GRCm39) V450E probably damaging Het
Ednrb A G 14: 104,058,313 (GRCm39) L330P probably damaging Het
Eml4 T A 17: 83,785,170 (GRCm39) H778Q probably damaging Het
Evx1 T A 6: 52,292,975 (GRCm39) I227N probably damaging Het
G3bp1 T A 11: 55,388,766 (GRCm39) V326E probably benign Het
Gata2 T C 6: 88,177,729 (GRCm39) V253A probably benign Het
Gbp2 A G 3: 142,339,138 (GRCm39) N397D probably damaging Het
Gm14401 C A 2: 176,778,696 (GRCm39) H261N probably benign Het
Hacd4 A T 4: 88,316,389 (GRCm39) H243Q probably benign Het
Hsd3b1 C A 3: 98,760,255 (GRCm39) K245N possibly damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ift27 A T 15: 78,049,443 (GRCm39) C86S probably damaging Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Irs3 T A 5: 137,642,821 (GRCm39) S206C probably damaging Het
Lefty2 C T 1: 180,720,716 (GRCm39) probably benign Het
Mark3 A G 12: 111,590,921 (GRCm39) I162V probably damaging Het
Matcap1 G A 8: 106,008,755 (GRCm39) Q421* probably null Het
Mefv A C 16: 3,533,910 (GRCm39) D120E probably damaging Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mre11a A G 9: 14,710,953 (GRCm39) I45V probably benign Het
Mtor A G 4: 148,620,993 (GRCm39) N1797S possibly damaging Het
Nav1 A C 1: 135,460,144 (GRCm39) M393R probably benign Het
Nod2 T C 8: 89,391,267 (GRCm39) S510P possibly damaging Het
Nos2 C T 11: 78,819,405 (GRCm39) T39I probably benign Het
Or2h1b A T 17: 37,462,690 (GRCm39) Y58N probably damaging Het
Or5p54 T A 7: 107,554,113 (GRCm39) H88Q probably benign Het
Pcdh7 A G 5: 57,878,970 (GRCm39) S842G possibly damaging Het
Pcdha11 T C 18: 37,145,676 (GRCm39) V589A probably damaging Het
Plaa A C 4: 94,471,706 (GRCm39) V10G probably damaging Het
Pprc1 T A 19: 46,053,659 (GRCm39) probably benign Het
Ptprt T C 2: 161,402,189 (GRCm39) Y994C probably damaging Het
Ripply2 T A 9: 86,897,943 (GRCm39) W37R probably damaging Het
Rpgrip1 A G 14: 52,395,839 (GRCm39) D1227G probably damaging Het
Scoc C T 8: 84,164,260 (GRCm39) D10N possibly damaging Het
Sdk2 A T 11: 113,745,099 (GRCm39) I732N probably damaging Het
Six2 T C 17: 85,995,092 (GRCm39) K97E probably damaging Het
Slit2 A C 5: 48,416,989 (GRCm39) N1014H probably damaging Het
Smc1b A C 15: 84,973,866 (GRCm39) L930R probably damaging Het
Spag16 T A 1: 69,962,873 (GRCm39) M340K probably benign Het
Spata31 C T 13: 65,070,480 (GRCm39) S876L probably benign Het
Spen A G 4: 141,199,154 (GRCm39) Y3135H possibly damaging Het
Spta1 A T 1: 174,012,363 (GRCm39) probably null Het
Stk3 G A 15: 34,959,164 (GRCm39) T336I probably damaging Het
Tas2r118 T A 6: 23,969,876 (GRCm39) T62S probably benign Het
Tmprss11d A G 5: 86,454,169 (GRCm39) M212T probably damaging Het
Trpc7 A G 13: 56,923,971 (GRCm39) L738P probably damaging Het
Ttll8 A G 15: 88,801,449 (GRCm39) V413A possibly damaging Het
Usb1 G A 8: 96,060,161 (GRCm39) probably benign Het
Vmn1r238 T C 18: 3,123,168 (GRCm39) E82G probably benign Het
Vmn2r114 T C 17: 23,529,599 (GRCm39) T168A possibly damaging Het
Vmn2r60 C A 7: 41,765,932 (GRCm39) P13H probably benign Het
Wdr26 A G 1: 181,030,712 (GRCm39) L194P probably damaging Het
Zfhx2 G A 14: 55,310,787 (GRCm39) Q636* probably null Het
Zfyve26 A G 12: 79,313,311 (GRCm39) Y25H probably benign Het
Other mutations in Camsap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Camsap2 APN 1 136,225,528 (GRCm39) missense probably benign 0.23
IGL02727:Camsap2 APN 1 136,232,050 (GRCm39) missense probably benign
IGL02803:Camsap2 APN 1 136,208,861 (GRCm39) missense probably damaging 1.00
IGL03037:Camsap2 APN 1 136,202,595 (GRCm39) missense probably damaging 1.00
IGL03124:Camsap2 APN 1 136,202,537 (GRCm39) critical splice donor site probably null
IGL03189:Camsap2 APN 1 136,209,400 (GRCm39) missense probably damaging 1.00
IGL03297:Camsap2 APN 1 136,225,539 (GRCm39) missense probably benign
IGL03347:Camsap2 APN 1 136,208,724 (GRCm39) missense possibly damaging 0.52
ANU23:Camsap2 UTSW 1 136,225,528 (GRCm39) missense probably benign 0.23
PIT4366001:Camsap2 UTSW 1 136,208,055 (GRCm39) missense
R0001:Camsap2 UTSW 1 136,210,626 (GRCm39) unclassified probably benign
R0037:Camsap2 UTSW 1 136,209,630 (GRCm39) missense probably damaging 1.00
R0140:Camsap2 UTSW 1 136,208,120 (GRCm39) missense probably benign
R0194:Camsap2 UTSW 1 136,220,686 (GRCm39) nonsense probably null
R0206:Camsap2 UTSW 1 136,208,738 (GRCm39) missense probably damaging 1.00
R0208:Camsap2 UTSW 1 136,208,738 (GRCm39) missense probably damaging 1.00
R0517:Camsap2 UTSW 1 136,221,126 (GRCm39) missense possibly damaging 0.95
R0648:Camsap2 UTSW 1 136,232,057 (GRCm39) missense probably damaging 0.96
R0735:Camsap2 UTSW 1 136,220,626 (GRCm39) missense probably damaging 1.00
R0790:Camsap2 UTSW 1 136,201,475 (GRCm39) splice site probably benign
R0880:Camsap2 UTSW 1 136,208,708 (GRCm39) missense probably benign 0.08
R1559:Camsap2 UTSW 1 136,209,832 (GRCm39) missense probably benign 0.02
R1728:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1729:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1730:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1739:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1762:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1783:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1784:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1785:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1823:Camsap2 UTSW 1 136,201,521 (GRCm39) missense possibly damaging 0.65
R1824:Camsap2 UTSW 1 136,201,521 (GRCm39) missense possibly damaging 0.65
R1997:Camsap2 UTSW 1 136,199,283 (GRCm39) missense probably damaging 1.00
R2010:Camsap2 UTSW 1 136,202,606 (GRCm39) missense probably damaging 1.00
R2237:Camsap2 UTSW 1 136,273,069 (GRCm39) missense probably damaging 1.00
R2923:Camsap2 UTSW 1 136,208,547 (GRCm39) missense possibly damaging 0.95
R4275:Camsap2 UTSW 1 136,198,614 (GRCm39) missense probably benign 0.01
R4371:Camsap2 UTSW 1 136,215,701 (GRCm39) missense probably damaging 1.00
R4976:Camsap2 UTSW 1 136,232,124 (GRCm39) missense probably damaging 1.00
R5227:Camsap2 UTSW 1 136,202,629 (GRCm39) intron probably benign
R5513:Camsap2 UTSW 1 136,208,601 (GRCm39) missense probably benign 0.23
R5755:Camsap2 UTSW 1 136,210,065 (GRCm39) missense probably damaging 1.00
R5966:Camsap2 UTSW 1 136,204,330 (GRCm39) missense probably damaging 1.00
R6031:Camsap2 UTSW 1 136,208,176 (GRCm39) missense possibly damaging 0.46
R6031:Camsap2 UTSW 1 136,208,176 (GRCm39) missense possibly damaging 0.46
R6111:Camsap2 UTSW 1 136,209,036 (GRCm39) missense probably benign
R6147:Camsap2 UTSW 1 136,273,138 (GRCm39) missense probably damaging 1.00
R6284:Camsap2 UTSW 1 136,232,175 (GRCm39) missense possibly damaging 0.63
R6293:Camsap2 UTSW 1 136,215,658 (GRCm39) missense probably damaging 1.00
R6306:Camsap2 UTSW 1 136,208,937 (GRCm39) missense probably benign
R6403:Camsap2 UTSW 1 136,208,538 (GRCm39) nonsense probably null
R6410:Camsap2 UTSW 1 136,273,182 (GRCm39) start gained probably benign
R6943:Camsap2 UTSW 1 136,232,187 (GRCm39) missense probably damaging 1.00
R7268:Camsap2 UTSW 1 136,201,483 (GRCm39) splice site probably null
R7448:Camsap2 UTSW 1 136,198,644 (GRCm39) missense
R7472:Camsap2 UTSW 1 136,209,131 (GRCm39) missense probably damaging 0.96
R7478:Camsap2 UTSW 1 136,198,678 (GRCm39) missense
R7515:Camsap2 UTSW 1 136,273,108 (GRCm39) missense probably damaging 0.99
R7691:Camsap2 UTSW 1 136,220,742 (GRCm39) missense probably damaging 0.99
R7800:Camsap2 UTSW 1 136,209,639 (GRCm39) missense probably damaging 0.99
R8040:Camsap2 UTSW 1 136,208,985 (GRCm39) missense
R8188:Camsap2 UTSW 1 136,225,132 (GRCm39) splice site probably null
R8238:Camsap2 UTSW 1 136,221,764 (GRCm39) missense probably benign 0.03
R8258:Camsap2 UTSW 1 136,208,077 (GRCm39) missense probably benign 0.00
R8259:Camsap2 UTSW 1 136,208,077 (GRCm39) missense probably benign 0.00
R8537:Camsap2 UTSW 1 136,204,943 (GRCm39) missense probably damaging 0.99
R8782:Camsap2 UTSW 1 136,204,957 (GRCm39) missense
R9301:Camsap2 UTSW 1 136,202,640 (GRCm39) critical splice acceptor site probably null
R9600:Camsap2 UTSW 1 136,204,936 (GRCm39) missense
X0018:Camsap2 UTSW 1 136,204,313 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAAGGTCTGGTTTGCCTAGAC -3'
(R):5'- GGTGTTGTCACAGCCTATCACAG -3'

Sequencing Primer
(F):5'- GGTTTGCCTAGACACATTTCAGGAC -3'
(R):5'- TTGTCACAGCCTATCACAGAGACTG -3'
Posted On 2016-12-20