Incidental Mutation 'R7794:Car13'
ID600104
Institutional Source Beutler Lab
Gene Symbol Car13
Ensembl Gene ENSMUSG00000027555
Gene Namecarbonic anhydrase 13
Synonyms2310075C21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7794 (G1)
Quality Score225.009
Status Validated
Chromosome3
Chromosomal Location14641727-14663002 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 14654888 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 120 (H120R)
Ref Sequence ENSEMBL: ENSMUSP00000029071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029071]
Predicted Effect probably damaging
Transcript: ENSMUST00000029071
AA Change: H120R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029071
Gene: ENSMUSG00000027555
AA Change: H120R

DomainStartEndE-ValueType
Carb_anhydrase 6 261 1.91e-139 SMART
Meta Mutation Damage Score 0.9536 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,286,678 M542K possibly damaging Het
Abcc3 T A 11: 94,358,871 I1083F probably benign Het
Acsm5 A G 7: 119,538,129 probably benign Het
Acyp1 G T 12: 85,288,279 A22E probably benign Het
Afdn C A 17: 13,882,433 A1090E probably damaging Het
Ahdc1 T G 4: 133,063,978 D843E possibly damaging Het
Bahcc1 G T 11: 120,272,681 E602* probably null Het
Bora A G 14: 99,072,644 T470A possibly damaging Het
Bzw1 T A 1: 58,400,800 S166T probably benign Het
Cstf3 G A 2: 104,590,581 probably benign Het
Dip2a T C 10: 76,276,625 N1080D probably damaging Het
Dis3 A G 14: 99,098,797 L91P probably benign Het
E2f6 A G 12: 16,820,369 D174G possibly damaging Het
Emsy A T 7: 98,600,724 S785R probably benign Het
Fbxl17 A G 17: 63,356,811 I561T probably damaging Het
Gabra6 A T 11: 42,321,041 probably null Het
Gm47996 C G 1: 151,210,794 P209A possibly damaging Het
Gm8765 C G 13: 50,702,308 P661A probably damaging Het
Hcls1 A G 16: 36,962,064 E365G probably damaging Het
Hoxa6 T A 6: 52,206,568 T166S possibly damaging Het
Hydin A G 8: 110,509,083 Y1900C probably damaging Het
I0C0044D17Rik T C 4: 98,820,345 probably benign Het
Ifitm7 T C 16: 13,983,746 T50A probably benign Het
Igkv10-95 A G 6: 68,680,827 Q109R possibly damaging Het
Il1rap A T 16: 26,722,908 H633L probably benign Het
Ippk C T 13: 49,446,342 P226S Het
Kmt2e G A 5: 23,464,716 G67D probably damaging Het
Kpna6 T C 4: 129,648,051 T518A probably benign Het
March11 A G 15: 26,409,198 I328V probably benign Het
Mbtps1 A G 8: 119,538,884 I308T probably damaging Het
Mug1 A T 6: 121,856,288 D284V possibly damaging Het
Myo16 A G 8: 10,569,913 K1488R unknown Het
Myom2 G A 8: 15,083,259 G384R probably damaging Het
Naa16 A G 14: 79,377,494 Y189H probably damaging Het
Nav3 G A 10: 109,688,856 A2304V probably benign Het
Olfr1145 T A 2: 87,810,474 V218E probably damaging Het
Olfr126 A T 17: 37,850,787 Q65L probably benign Het
Olfr310 T A 7: 86,269,133 I219L probably damaging Het
Orc5 A T 5: 22,533,784 Y160N possibly damaging Het
Pan2 T C 10: 128,316,527 probably null Het
Pcdhb20 A G 18: 37,504,432 R4G probably benign Het
Poc1b A G 10: 99,129,598 S130G possibly damaging Het
Psme2b A G 11: 48,945,856 V88A probably benign Het
Ptpn13 C T 5: 103,492,224 T183M probably benign Het
Ptpn4 T C 1: 119,726,037 E275G probably damaging Het
Rab21 A T 10: 115,298,857 L119* probably null Het
Rep15 T A 6: 147,033,140 I159N probably damaging Het
Rps6kc1 T C 1: 190,783,628 E967G probably benign Het
Rptn G A 3: 93,395,729 R123K probably benign Het
Scn11a A T 9: 119,765,514 V1271D probably damaging Het
Scn5a A T 9: 119,529,087 I696N probably damaging Het
Slc25a12 T C 2: 71,311,508 E267G probably damaging Het
Slc5a4b A T 10: 76,062,299 M527K probably benign Het
Speg T A 1: 75,388,870 S632T probably benign Het
Stard9 G A 2: 120,704,430 G3723S probably benign Het
Synrg G T 11: 84,019,574 M933I probably benign Het
Tmem178b A T 6: 40,245,617 I89F probably damaging Het
Tyr C T 7: 87,483,820 probably null Het
Usp30 T A 5: 114,112,972 C237* probably null Het
Xpo6 G T 7: 126,160,863 T188K probably damaging Het
Zfp382 G A 7: 30,131,610 S108N possibly damaging Het
Zfp820 A C 17: 21,820,128 V73G probably damaging Het
Other mutations in Car13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Car13 APN 3 14656904 splice site probably benign
IGL01894:Car13 APN 3 14661465 missense probably damaging 1.00
IGL03124:Car13 APN 3 14656940 missense possibly damaging 0.75
R0374:Car13 UTSW 3 14656297 splice site probably benign
R0396:Car13 UTSW 3 14656239 missense probably benign
R1087:Car13 UTSW 3 14641825 nonsense probably null
R1143:Car13 UTSW 3 14656268 missense probably benign
R1566:Car13 UTSW 3 14650698 missense probably benign 0.03
R1769:Car13 UTSW 3 14650735 missense probably benign
R1896:Car13 UTSW 3 14645175 missense probably benign 0.00
R4757:Car13 UTSW 3 14661555 missense probably damaging 1.00
R5645:Car13 UTSW 3 14645120 missense possibly damaging 0.89
R5699:Car13 UTSW 3 14650689 missense probably damaging 1.00
R5810:Car13 UTSW 3 14641768 utr 5 prime probably null
R7161:Car13 UTSW 3 14645208 missense probably benign
RF002:Car13 UTSW 3 14654914 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGTATCTGAGTCACAGCGAC -3'
(R):5'- GTGTTCACTTCAAGGGGAAAG -3'

Sequencing Primer
(F):5'- GACTAGTAGCCCATAACCCTTCTGG -3'
(R):5'- CACTTCAAGGGGAAAGTACTATATTC -3'
Posted On2019-11-26