Incidental Mutation 'R5227:Camsap2'
ID 402653
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 042800-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.671) question?
Stock # R5227 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 136195861-136273842 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 136202629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048309] [ENSMUST00000192001] [ENSMUST00000192314]
AlphaFold Q8C1B1
Predicted Effect probably benign
Transcript: ENSMUST00000048309
SMART Domains Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570

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 noncoding transcript
Transcript: ENSMUST00000181385
Predicted Effect probably benign
Transcript: ENSMUST00000192001
SMART Domains Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570

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
SMART Domains Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570

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: I604T
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 84,999,249 (GRCm39) L115P probably damaging Het
Adgrb3 A C 1: 25,133,033 (GRCm39) M481R possibly damaging Het
Adgrd1 C A 5: 129,199,647 (GRCm39) N161K probably benign Het
Alx4 T A 2: 93,507,725 (GRCm39) V340D probably damaging Het
Arid1a A G 4: 133,407,716 (GRCm39) S2264P unknown Het
Azi2 A T 9: 117,876,526 (GRCm39) H14L probably damaging Het
Ccpg1 T A 9: 72,919,354 (GRCm39) L323* probably null Het
Cpsf1 A T 15: 76,483,148 (GRCm39) I943N probably damaging Het
Crebrf T A 17: 26,978,739 (GRCm39) Y476N probably damaging Het
Defb10 T A 8: 22,351,894 (GRCm39) Y46* probably null Het
Dock3 A G 9: 106,863,269 (GRCm39) L703P probably damaging Het
Ebf2 A T 14: 67,484,518 (GRCm39) I181F probably damaging Het
Eif3e T A 15: 43,114,917 (GRCm39) M420L probably benign Het
Emilin3 T A 2: 160,751,185 (GRCm39) Q188L probably damaging Het
Fbxl4 C T 4: 22,376,840 (GRCm39) T92M probably damaging Het
Fer1l6 C T 15: 58,453,752 (GRCm39) Q687* probably null Het
Fkrp T C 7: 16,544,635 (GRCm39) E409G possibly damaging Het
Fzd9 T C 5: 135,278,460 (GRCm39) D475G probably benign Het
Gabbr1 C T 17: 37,380,958 (GRCm39) T767I possibly damaging Het
Gdf2 G A 14: 33,663,451 (GRCm39) probably null Het
Gpatch1 T C 7: 35,008,776 (GRCm39) N82D probably benign Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Ireb2 T A 9: 54,803,885 (GRCm39) probably null Het
Kansl1 T G 11: 104,247,640 (GRCm39) H570P probably benign Het
Kcna10 T G 3: 107,101,744 (GRCm39) M125R probably damaging Het
Lrp1b T G 2: 40,741,805 (GRCm39) I3041L possibly damaging Het
Mbtd1 T C 11: 93,815,474 (GRCm39) F354S possibly damaging Het
Mideas A T 12: 84,199,661 (GRCm39) F1020I probably benign Het
Mov10 T C 3: 104,709,894 (GRCm39) T331A probably benign Het
Ms4a8a A T 19: 11,045,780 (GRCm39) S243T probably damaging Het
Ndufa11 T C 17: 57,024,867 (GRCm39) S10P probably benign Het
Olfml3 A G 3: 103,643,737 (GRCm39) Y215H possibly damaging Het
Or2t45 T A 11: 58,669,705 (GRCm39) F251I possibly damaging Het
Or56b2j A G 7: 104,353,529 (GRCm39) I252V possibly damaging Het
Pclo T C 5: 14,763,574 (GRCm39) S4016P probably benign Het
Pcyox1 G C 6: 86,368,726 (GRCm39) A264G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pnisr A G 4: 21,874,587 (GRCm39) probably benign Het
Prc1 T C 7: 79,962,927 (GRCm39) S574P probably damaging Het
Ranbp3l T A 15: 9,037,186 (GRCm39) V16D probably damaging Het
Rfx1 T C 8: 84,800,687 (GRCm39) V96A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfmbt1 T C 14: 30,537,211 (GRCm39) probably null Het
Siglecf T C 7: 43,001,364 (GRCm39) Y111H probably damaging Het
Snx14 G A 9: 88,280,347 (GRCm39) T536I possibly damaging Het
Spindoc A G 19: 7,351,512 (GRCm39) V204A probably benign Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Swt1 G A 1: 151,278,727 (GRCm39) Q227* probably null Het
Tg A G 15: 66,631,416 (GRCm39) I562V possibly damaging Het
Trip11 T A 12: 101,851,179 (GRCm39) I677F probably damaging Het
Vmn1r49 G A 6: 90,049,753 (GRCm39) T83I probably benign Het
Vmn1r90 T C 7: 14,295,601 (GRCm39) K166E possibly damaging Het
Vmn2r124 T C 17: 18,269,819 (GRCm39) I25T possibly damaging Het
Vps13d A T 4: 144,907,777 (GRCm39) probably null Het
Zfp106 T C 2: 120,354,449 (GRCm39) I170V 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
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
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'- ACAGTAAGTCTTAAATCAGCAAAGC -3'
(R):5'- ACAGGAAGTTAGTTTTATTGTTGCC -3'

Sequencing Primer
(F):5'- TCAGCAAAGCTAAAAATTTGTGATG -3'
(R):5'- TGTTGCCTAAAACTTGGTTCTTAG -3'
Posted On 2016-07-22