Incidental Mutation 'R9600:Camsap2'
ID 723644
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.671) question?
Stock # R9600 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 136195861-136273842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136204936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 526 (T526A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048309] [ENSMUST00000192001] [ENSMUST00000192314]
AlphaFold Q8C1B1
Predicted Effect probably benign
Transcript: ENSMUST00000048309
AA Change: T1200A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: T1200A

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: T1183A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: T1183A

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: T1194A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: T1194A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A G 11: 80,261,197 (GRCm39) V210A probably damaging Het
Abcc9 G A 6: 142,536,102 (GRCm39) A1544V possibly damaging Het
Akap6 A G 12: 52,933,341 (GRCm39) T278A probably benign Het
Arfgef1 T A 1: 10,233,977 (GRCm39) I1106F probably benign Het
Armc7 T C 11: 115,367,038 (GRCm39) L61S probably damaging Het
Atp1a3 G A 7: 24,700,027 (GRCm39) T111M probably benign Het
Bltp1 A T 3: 37,095,565 (GRCm39) K1103* probably null Het
Cacna2d4 T A 6: 119,322,023 (GRCm39) S962R probably benign Het
Casq2 A T 3: 102,052,622 (GRCm39) D378V unknown Het
Chst8 C T 7: 34,374,646 (GRCm39) D398N possibly damaging Het
Cmya5 C T 13: 93,226,604 (GRCm39) G2828D probably damaging Het
Cntnap2 T A 6: 45,969,009 (GRCm39) N250K probably damaging Het
Cpne5 T C 17: 29,380,520 (GRCm39) N401D probably damaging Het
Cse1l A G 2: 166,757,119 (GRCm39) N7S probably damaging Het
Cyp4f39 G A 17: 32,705,920 (GRCm39) G337D probably damaging Het
Dera C T 6: 137,814,135 (GRCm39) R308C probably benign Het
Drd5 T A 5: 38,478,174 (GRCm39) I389N possibly damaging Het
F830016B08Rik A G 18: 60,433,237 (GRCm39) T107A probably damaging Het
Fbxw22 C A 9: 109,212,986 (GRCm39) L320F probably damaging Het
Fndc3b G T 3: 27,552,941 (GRCm39) T352K probably damaging Het
Gm36864 T A 7: 43,886,275 (GRCm39) I169K unknown Het
Hdac4 A T 1: 91,889,277 (GRCm39) D749E probably damaging Het
Herc1 C T 9: 66,304,594 (GRCm39) A805V possibly damaging Het
Hrh1 A G 6: 114,457,453 (GRCm39) K245E probably benign Het
Khdc1a A G 1: 21,421,204 (GRCm39) T130A probably benign Het
Lrp5 C G 19: 3,641,712 (GRCm39) A1417P probably benign Het
Macf1 T C 4: 123,365,002 (GRCm39) Q3253R possibly damaging Het
Mdn1 T A 4: 32,684,723 (GRCm39) L811* probably null Het
Mettl8 T C 2: 70,812,383 (GRCm39) D84G possibly damaging Het
Miga1 T G 3: 151,993,186 (GRCm39) T412P probably benign Het
Mtor G T 4: 148,632,092 (GRCm39) R2322L possibly damaging Het
Muc16 T C 9: 18,567,147 (GRCm39) N1791D unknown Het
Myo9b C G 8: 71,743,075 (GRCm39) S45R possibly damaging Het
Nup50l A T 6: 96,142,156 (GRCm39) L296Q possibly damaging Het
Olfm4 T C 14: 80,243,747 (GRCm39) F105S probably damaging Het
Or5af2 A T 11: 58,708,370 (GRCm39) I179F possibly damaging Het
Osbpl1a T C 18: 13,015,277 (GRCm39) I384V probably benign Het
Pcnx1 T C 12: 82,030,435 (GRCm39) L1131P Het
Pex6 T A 17: 47,035,322 (GRCm39) V827E probably damaging Het
Plek A C 11: 16,940,119 (GRCm39) S197A probably benign Het
Pmpca T C 2: 26,282,598 (GRCm39) Y269H probably benign Het
Pop1 T C 15: 34,512,881 (GRCm39) I493T probably benign Het
Rap1gap2 T C 11: 74,283,954 (GRCm39) N615D probably benign Het
Rtp3 T C 9: 110,815,198 (GRCm39) Y389C unknown Het
Rusf1 T A 7: 127,875,676 (GRCm39) D253V possibly damaging Het
Sardh T C 2: 27,120,513 (GRCm39) Q423R probably benign Het
Slc11a1 T C 1: 74,422,688 (GRCm39) probably null Het
Slc5a4b T C 10: 75,896,239 (GRCm39) D572G probably damaging Het
Slco1a8 T G 6: 141,949,234 (GRCm39) probably null Het
Slfn14 A G 11: 83,170,048 (GRCm39) V532A probably benign Het
Spmip10 T C 18: 56,725,450 (GRCm39) W37R probably benign Het
Stxbp1 T C 2: 32,701,120 (GRCm39) Y264C possibly damaging Het
Syce1l T C 8: 114,381,750 (GRCm39) I230T unknown Het
Taf5l T C 8: 124,730,173 (GRCm39) Y172C Het
Trpc4 A T 3: 54,102,248 (GRCm39) K49* probably null Het
Ttc13 A G 8: 125,415,284 (GRCm39) V285A probably benign Het
Ttc17 A T 2: 94,204,890 (GRCm39) L344Q probably damaging Het
Unc79 A G 12: 103,135,972 (GRCm39) H2469R probably benign Het
Xkr7 A G 2: 152,896,393 (GRCm39) I416V probably benign Het
Zeb2 C A 2: 44,987,180 (GRCm39) D35Y unknown Het
Zfp28 A G 7: 6,397,917 (GRCm39) H784R probably benign Het
Zfp644 A C 5: 106,783,909 (GRCm39) S848R probably benign Het
Zfp809 G A 9: 22,150,384 (GRCm39) E294K possibly damaging Het
Zfp820 A G 17: 22,038,861 (GRCm39) Y156H 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
R5834:Camsap2 UTSW 1 136,208,126 (GRCm39) missense probably benign
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
X0018:Camsap2 UTSW 1 136,204,313 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGCCCCTAGTCAACAATGG -3'
(R):5'- CCACATTTGGTAGGGTTGTAATTAG -3'

Sequencing Primer
(F):5'- AGTCAACAATGGTCTCGCTC -3'
(R):5'- AGGGTTGTAATTAGTTCAGATTTCAG -3'
Posted On 2022-09-12