Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03061:Car15'

409450

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Car15

Ensembl Gene

ENSMUSG00000090236

Gene Name

carbonic anhydrase 15

Synonyms

Cals2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL03061

Quality Score

Status

Chromosome

Chromosomal Location

17653140-17656050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17653249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 306 (C306Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012152] [ENSMUST00000066127] [ENSMUST00000117945] [ENSMUST00000118960] [ENSMUST00000150068]

AlphaFold

Q99N23

Predicted Effect

probably benign
Transcript: ENSMUST00000012152

SMART Domains

Protein: ENSMUSP00000012152
Gene: ENSMUSG00000003166

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	114	265	1.06e-14	SMART
VWC	270	331	1.42e-9	SMART
transmembrane domain	345	367	N/A	INTRINSIC
low complexity region	369	377	N/A	INTRINSIC
low complexity region	438	449	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066127

SMART Domains

Protein: ENSMUSP00000064603
Gene: ENSMUSG00000003166

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	111	262	1.06e-14	SMART
transmembrane domain	274	296	N/A	INTRINSIC
low complexity region	298	306	N/A	INTRINSIC
low complexity region	367	378	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117945

SMART Domains

Protein: ENSMUSP00000112783
Gene: ENSMUSG00000003166

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	111	262	1.06e-14	SMART
VWC	267	328	1.42e-9	SMART
transmembrane domain	342	364	N/A	INTRINSIC
low complexity region	366	374	N/A	INTRINSIC
low complexity region	435	446	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118960
AA Change: C306Y

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236
AA Change: C306Y

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Carb_anhydrase	25	293	2.31e-106	SMART
low complexity region	307	320	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135229

Predicted Effect

probably benign
Transcript: ENSMUST00000150068

SMART Domains

Protein: ENSMUSP00000115071
Gene: ENSMUSG00000092470

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	114	265	1.06e-14	SMART
VWC	270	331	1.42e-9	SMART
transmembrane domain	345	367	N/A	INTRINSIC
low complexity region	369	377	N/A	INTRINSIC
low complexity region	438	449	N/A	INTRINSIC
low complexity region	559	565	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232516

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	A	8: 46,961,374 (GRCm39)	N106K	probably damaging	Het
Ak8	T	C	2: 28,632,767 (GRCm39)		probably benign	Het
BC016579	C	T	16: 45,449,849 (GRCm39)	G190S	probably damaging	Het
C4bp	A	G	1: 130,564,454 (GRCm39)	V410A	probably damaging	Het
Cacna2d3	T	C	14: 28,780,388 (GRCm39)	T658A	probably damaging	Het
Cadps2	T	C	6: 23,287,659 (GRCm39)		probably null	Het
Car10	G	T	11: 93,381,351 (GRCm39)	V105F	probably damaging	Het
Casr	C	T	16: 36,316,250 (GRCm39)	A530T	probably benign	Het
Col5a3	A	G	9: 20,708,868 (GRCm39)		probably null	Het
Creld1	A	G	6: 113,465,058 (GRCm39)	E95G	probably damaging	Het
Dcstamp	T	A	15: 39,623,793 (GRCm39)	D366E	possibly damaging	Het
Dnah11	T	C	12: 117,866,856 (GRCm39)	Y4095C	probably damaging	Het
Eps8l2	A	G	7: 140,937,148 (GRCm39)		probably benign	Het
Gsn	T	C	2: 35,172,471 (GRCm39)		probably benign	Het
Ifi27l2a	T	C	12: 103,401,803 (GRCm39)	V30A	possibly damaging	Het
Ifit1bl2	C	T	19: 34,597,124 (GRCm39)	R164Q	probably benign	Het
Impg2	T	C	16: 56,088,779 (GRCm39)	S1102P	probably damaging	Het
Kif24	G	T	4: 41,394,323 (GRCm39)	P984Q	possibly damaging	Het
Krtap29-1	T	A	11: 99,869,455 (GRCm39)	Q142L	possibly damaging	Het
Lpar6	C	T	14: 73,476,510 (GRCm39)	T157I	probably benign	Het
Lrrc32	A	T	7: 98,148,629 (GRCm39)	T470S	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mroh9	A	T	1: 162,854,071 (GRCm39)	H776Q	probably damaging	Het
Myh7	T	C	14: 55,228,661 (GRCm39)		probably benign	Het
Myh7b	A	G	2: 155,462,031 (GRCm39)	N309S	possibly damaging	Het
Myo5b	A	T	18: 74,767,630 (GRCm39)	T313S	probably benign	Het
Myo5b	G	A	18: 74,713,615 (GRCm39)		probably benign	Het
Npas4	C	T	19: 5,036,365 (GRCm39)	V600M	probably damaging	Het
Nrxn3	T	A	12: 89,478,698 (GRCm39)	Y557*	probably null	Het
Or2aj4	T	C	16: 19,385,463 (GRCm39)	T57A	possibly damaging	Het
Or52k2	A	G	7: 102,253,946 (GRCm39)	I128M	probably damaging	Het
Or8g53	T	A	9: 39,683,458 (GRCm39)	T213S	probably benign	Het
Pcdh15	A	G	10: 74,152,843 (GRCm39)	I383V	probably damaging	Het
Pdzrn3	C	A	6: 101,128,816 (GRCm39)	D617Y	probably damaging	Het
Prodh2	A	T	7: 30,212,258 (GRCm39)	K408*	probably null	Het
Ptprs	T	C	17: 56,725,830 (GRCm39)	I1052V	probably damaging	Het
Rpl14	T	C	9: 120,401,193 (GRCm39)	V12A	probably damaging	Het
Sf3a1	C	T	11: 4,125,493 (GRCm39)	R428C	probably damaging	Het
Sgsm2	G	T	11: 74,741,962 (GRCm39)	N1009K	probably damaging	Het
Slc28a2	A	T	2: 122,284,980 (GRCm39)	I323F	probably damaging	Het
Snx19	T	A	9: 30,344,928 (GRCm39)	F676I	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tg	A	C	15: 66,543,254 (GRCm39)	D56A	probably damaging	Het
Tln1	G	T	4: 43,545,694 (GRCm39)	A928E	probably damaging	Het
Tmem94	T	C	11: 115,683,247 (GRCm39)	S677P	possibly damaging	Het
Ttc41	C	A	10: 86,572,721 (GRCm39)	H698N	possibly damaging	Het
Vcan	T	C	13: 89,851,394 (GRCm39)	T1189A	probably benign	Het
Vmn1r215	G	T	13: 23,260,088 (GRCm39)	V43F	probably damaging	Het
Vmn2r28	A	T	7: 5,487,015 (GRCm39)	N549K	probably damaging	Het
Zfp598	T	C	17: 24,898,566 (GRCm39)	V455A	probably benign	Het

Other mutations in Car15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Car15	APN	16	17,654,498 (GRCm39)	missense	probably damaging	1.00
IGL01292:Car15	APN	16	17,653,393 (GRCm39)	missense	probably damaging	1.00
IGL01361:Car15	APN	16	17,655,718 (GRCm39)	missense	probably damaging	1.00
R0383:Car15	UTSW	16	17,654,617 (GRCm39)	nonsense	probably null
R0544:Car15	UTSW	16	17,653,680 (GRCm39)	splice site	probably benign
R1771:Car15	UTSW	16	17,654,730 (GRCm39)	missense	probably damaging	0.97
R1951:Car15	UTSW	16	17,655,269 (GRCm39)	missense	possibly damaging	0.47
R2318:Car15	UTSW	16	17,654,463 (GRCm39)	missense	probably benign	0.02
R2910:Car15	UTSW	16	17,656,006 (GRCm39)	unclassified	probably benign
R4370:Car15	UTSW	16	17,653,299 (GRCm39)	missense	probably damaging	0.99
R4843:Car15	UTSW	16	17,654,472 (GRCm39)	missense	possibly damaging	0.60
R5110:Car15	UTSW	16	17,653,211 (GRCm39)	missense	possibly damaging	0.53
R6251:Car15	UTSW	16	17,655,227 (GRCm39)	missense	probably benign	0.09
R6360:Car15	UTSW	16	17,655,930 (GRCm39)	missense	probably benign	0.01
R6699:Car15	UTSW	16	17,654,438 (GRCm39)	missense	probably null	0.43
R7127:Car15	UTSW	16	17,656,060 (GRCm39)	unclassified	probably benign
R7567:Car15	UTSW	16	17,654,652 (GRCm39)	missense	probably damaging	1.00
R8289:Car15	UTSW	16	17,654,580 (GRCm39)	critical splice donor site	probably null
R8543:Car15	UTSW	16	17,654,713 (GRCm39)	missense	probably benign	0.00
R9252:Car15	UTSW	16	17,653,246 (GRCm39)	nonsense	probably null
X0026:Car15	UTSW	16	17,653,396 (GRCm39)	missense	probably benign	0.09

Posted On

2016-08-02