Incidental Mutation 'R2027:Camsap1'
ID 220738
Institutional Source Beutler Lab
Gene Symbol Camsap1
Ensembl Gene ENSMUSG00000026933
Gene Name calmodulin regulated spectrin-associated protein 1
Synonyms 9530003A05Rik, PRO2405
MMRRC Submission 040035-MU
Accession Numbers

Genbank: NM_001115076; MGI: 3036242

Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # R2027 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25926838-25983282 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25938526 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1062 (V1062A)
Ref Sequence ENSEMBL: ENSMUSP00000109804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000183461]
AlphaFold A2AHC3
Predicted Effect probably benign
Transcript: ENSMUST00000091268
AA Change: V1062A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: V1062A

DomainStartEndE-ValueType
Pfam:CAMSAP_CH 228 311 3.3e-35 PFAM
low complexity region 732 747 N/A INTRINSIC
low complexity region 792 807 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
Pfam:CAMSAP_CC1 859 917 3.8e-29 PFAM
coiled coil region 1010 1037 N/A INTRINSIC
coiled coil region 1267 1336 N/A INTRINSIC
low complexity region 1341 1353 N/A INTRINSIC
low complexity region 1373 1390 N/A INTRINSIC
low complexity region 1429 1439 N/A INTRINSIC
CAMSAP_CKK 1442 1570 3.6e-85 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114167
AA Change: V1062A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: V1062A

DomainStartEndE-ValueType
Pfam:CH 185 330 5.4e-34 PFAM
Pfam:CAMSAP_CH 228 311 2.3e-34 PFAM
low complexity region 732 747 N/A INTRINSIC
low complexity region 792 807 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
coiled coil region 869 905 N/A INTRINSIC
coiled coil region 1010 1037 N/A INTRINSIC
coiled coil region 1267 1336 N/A INTRINSIC
low complexity region 1341 1353 N/A INTRINSIC
low complexity region 1373 1390 N/A INTRINSIC
low complexity region 1429 1439 N/A INTRINSIC
CAMSAP_CKK 1442 1570 3.6e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134882
SMART Domains Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933

DomainStartEndE-ValueType
Pfam:CH 185 350 1.3e-33 PFAM
Pfam:CAMSAP_CH 248 331 2.6e-34 PFAM
low complexity region 752 767 N/A INTRINSIC
low complexity region 812 827 N/A INTRINSIC
low complexity region 846 857 N/A INTRINSIC
coiled coil region 889 925 N/A INTRINSIC
coiled coil region 1030 1057 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134970
Predicted Effect probably benign
Transcript: ENSMUST00000143977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148146
Predicted Effect probably benign
Transcript: ENSMUST00000183461
AA Change: V1062A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: V1062A

DomainStartEndE-ValueType
Pfam:CH 185 330 5.4e-34 PFAM
Pfam:CAMSAP_CH 228 311 2.3e-34 PFAM
low complexity region 732 747 N/A INTRINSIC
low complexity region 792 807 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
coiled coil region 869 905 N/A INTRINSIC
coiled coil region 1010 1037 N/A INTRINSIC
coiled coil region 1267 1336 N/A INTRINSIC
low complexity region 1341 1353 N/A INTRINSIC
low complexity region 1373 1390 N/A INTRINSIC
low complexity region 1429 1439 N/A INTRINSIC
CAMSAP_CKK 1442 1570 3.6e-85 SMART
Meta Mutation Damage Score 0.0839 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 100% (70/70)
Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik A G 13: 59,742,587 M55T possibly damaging Het
4932438A13Rik T A 3: 37,047,961 probably benign Het
A4gnt T C 9: 99,620,201 V138A possibly damaging Het
Aatk A G 11: 120,009,317 S1291P probably damaging Het
Adgrv1 C T 13: 81,595,182 V67M probably damaging Het
Apoa4 G A 9: 46,243,000 V300M probably damaging Het
Bcl2a1d A T 9: 88,731,385 V112E possibly damaging Het
Cabp2 T A 19: 4,087,126 M166K probably damaging Het
Cap1 T G 4: 122,862,893 probably benign Het
Caprin2 A G 6: 148,877,887 Y141H probably damaging Het
Card11 T C 5: 140,906,767 Y181C probably damaging Het
Ccdc107 T C 4: 43,495,874 V259A probably benign Het
Chd9 A G 8: 90,907,991 probably benign Het
Col12a1 T C 9: 79,645,793 probably null Het
Cuzd1 T C 7: 131,320,091 T61A possibly damaging Het
Dbp C A 7: 45,708,276 D89E probably benign Het
Dhps A T 8: 85,072,611 N140Y probably damaging Het
Dido1 A T 2: 180,689,181 L158* probably null Het
Dnah9 T G 11: 65,955,338 N2958T probably benign Het
Dpp8 T A 9: 65,078,774 Y849N probably damaging Het
Dsg2 A G 18: 20,583,004 probably benign Het
Efemp1 A T 11: 28,914,696 Y250F possibly damaging Het
Fam92a T A 4: 12,171,216 D79V probably damaging Het
Faxc T C 4: 21,958,439 probably benign Het
Frem3 G T 8: 80,695,337 C2122F possibly damaging Het
Gan T C 8: 117,187,499 probably null Het
Gm11487 A G 4: 73,403,058 I154T possibly damaging Het
Gnl1 A G 17: 35,982,958 N274D probably benign Het
Hook3 T C 8: 26,038,098 E588G probably damaging Het
Itpr1 C A 6: 108,386,853 S812Y possibly damaging Het
Kbtbd3 C T 9: 4,317,075 probably benign Het
Macf1 C T 4: 123,371,918 A4821T probably damaging Het
Mepe T C 5: 104,327,091 S13P possibly damaging Het
Myh11 A G 16: 14,232,668 Y478H probably damaging Het
Myo7b A G 18: 31,984,960 V871A probably benign Het
Nckap1 A T 2: 80,535,518 M466K probably damaging Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr1025-ps1 A C 2: 85,918,770 S282R probably damaging Het
Olfr1107 T A 2: 87,071,553 N194Y possibly damaging Het
Olfr1413 A T 1: 92,573,767 T199S probably damaging Het
Olfr582 A T 7: 103,041,524 H15L probably benign Het
Olfr731 A G 14: 50,237,949 I312T probably benign Het
Olfr825 A G 10: 130,162,735 I197T probably benign Het
Otof T C 5: 30,421,014 T97A probably benign Het
Peli2 G A 14: 48,256,145 E275K probably benign Het
Pik3c2a T C 7: 116,350,822 Y1320C probably damaging Het
Pkn1 A G 8: 83,671,378 V795A probably damaging Het
Pramel5 A G 4: 144,271,704 L323P probably damaging Het
Prr5 A T 15: 84,701,379 R183W probably damaging Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Rabgef1 A G 5: 130,208,779 D231G possibly damaging Het
Rbp3 C T 14: 33,956,018 T641M probably damaging Het
Rc3h1 C T 1: 160,954,937 P662L probably benign Het
Rpl7a-ps5 G T 17: 57,839,095 Q47K probably benign Het
Sclt1 G A 3: 41,730,888 T45I probably benign Het
Slc22a17 A G 14: 54,908,086 I202T probably damaging Het
Slc25a13 A G 6: 6,073,487 L457S probably damaging Het
Slc44a3 T C 3: 121,463,410 probably benign Het
Slc7a9 G A 7: 35,454,137 V188M probably damaging Het
Tmem161a T A 8: 70,177,520 F119I probably damaging Het
Tmem240 A G 4: 155,735,435 D32G possibly damaging Het
Tmtc4 T C 14: 122,921,265 N682S probably benign Het
Uqcrc1 G A 9: 108,947,015 V262M probably benign Het
Vmn1r87 G A 7: 13,131,896 R155C probably damaging Het
Vmn2r100 A T 17: 19,522,072 Q236L probably benign Het
Vmn2r97 T A 17: 18,929,682 I444N unknown Het
Wisp1 A G 15: 66,917,409 E248G possibly damaging Het
Yif1a A T 19: 5,089,872 H115L probably damaging Het
Zfp280b T C 10: 76,038,494 L69S probably damaging Het
Zfp579 C A 7: 4,993,521 E464* probably null Het
Other mutations in Camsap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Camsap1 APN 2 25,933,623 (GRCm38) missense possibly damaging 0.95
IGL01555:Camsap1 APN 2 25,939,393 (GRCm38) missense possibly damaging 0.81
IGL01667:Camsap1 APN 2 25,945,281 (GRCm38) splice site probably benign
IGL02167:Camsap1 APN 2 25,934,300 (GRCm38) missense probably damaging 1.00
IGL02191:Camsap1 APN 2 25,929,880 (GRCm38) missense probably damaging 0.97
IGL02285:Camsap1 APN 2 25,929,802 (GRCm38) missense probably damaging 1.00
IGL02393:Camsap1 APN 2 25,938,322 (GRCm38) missense probably benign 0.10
3-1:Camsap1 UTSW 2 25,945,178 (GRCm38) missense probably damaging 1.00
R0631:Camsap1 UTSW 2 25,933,647 (GRCm38) missense probably damaging 0.98
R0828:Camsap1 UTSW 2 25,939,085 (GRCm38) missense probably damaging 1.00
R1434:Camsap1 UTSW 2 25,945,178 (GRCm38) missense probably damaging 1.00
R1687:Camsap1 UTSW 2 25,939,615 (GRCm38) missense probably damaging 1.00
R2048:Camsap1 UTSW 2 25,929,743 (GRCm38) missense probably benign 0.00
R3732:Camsap1 UTSW 2 25,938,344 (GRCm38) missense probably damaging 1.00
R4437:Camsap1 UTSW 2 25,938,646 (GRCm38) missense possibly damaging 0.89
R4494:Camsap1 UTSW 2 25,952,758 (GRCm38) missense probably damaging 1.00
R4888:Camsap1 UTSW 2 25,935,550 (GRCm38) missense probably benign 0.03
R5028:Camsap1 UTSW 2 25,944,556 (GRCm38) missense probably damaging 1.00
R5058:Camsap1 UTSW 2 25,939,363 (GRCm38) missense probably benign 0.01
R5105:Camsap1 UTSW 2 25,940,929 (GRCm38) missense probably damaging 1.00
R5121:Camsap1 UTSW 2 25,935,550 (GRCm38) missense probably benign 0.03
R5153:Camsap1 UTSW 2 25,933,618 (GRCm38) missense probably damaging 1.00
R5323:Camsap1 UTSW 2 25,965,811 (GRCm38) missense probably damaging 0.98
R6043:Camsap1 UTSW 2 25,929,925 (GRCm38) missense probably benign 0.00
R6479:Camsap1 UTSW 2 25,935,862 (GRCm38) missense possibly damaging 0.88
R6502:Camsap1 UTSW 2 25,956,308 (GRCm38) missense probably damaging 1.00
R6571:Camsap1 UTSW 2 25,939,500 (GRCm38) missense possibly damaging 0.89
R7046:Camsap1 UTSW 2 25,945,189 (GRCm38) missense probably damaging 0.99
R7251:Camsap1 UTSW 2 25,938,886 (GRCm38) missense probably damaging 0.99
R8026:Camsap1 UTSW 2 25,938,202 (GRCm38) missense probably benign 0.17
R8133:Camsap1 UTSW 2 25,934,297 (GRCm38) missense probably damaging 0.99
R8152:Camsap1 UTSW 2 25,940,241 (GRCm38) missense probably damaging 1.00
R8158:Camsap1 UTSW 2 25,944,428 (GRCm38) nonsense probably null
R8325:Camsap1 UTSW 2 25,939,363 (GRCm38) missense probably benign 0.01
R8339:Camsap1 UTSW 2 25,982,805 (GRCm38) missense possibly damaging 0.74
R9187:Camsap1 UTSW 2 25,930,016 (GRCm38) missense probably damaging 1.00
R9379:Camsap1 UTSW 2 25,956,306 (GRCm38) missense
R9419:Camsap1 UTSW 2 25,955,292 (GRCm38) missense
R9525:Camsap1 UTSW 2 25,953,950 (GRCm38) missense probably benign
R9526:Camsap1 UTSW 2 25,953,950 (GRCm38) missense probably benign
R9776:Camsap1 UTSW 2 25,938,154 (GRCm38) missense probably benign 0.00
Z1176:Camsap1 UTSW 2 25,940,881 (GRCm38) missense probably benign 0.01
Z1176:Camsap1 UTSW 2 25,936,639 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGACCTTGACTGTGGGAGTG -3'
(R):5'- AGAATGATTTCTACGGCCCTC -3'

Sequencing Primer
(F):5'- GTCTCCACACTGGGTGTTG -3'
(R):5'- GATTTCTACGGCCCTCCTCGAG -3'
Posted On 2014-08-25