Mutagenetix > Incidental Mutation

Incidental Mutation 'R6753:Comt'

530927

Institutional Source

Beutler Lab

Gene Symbol

Comt

Ensembl Gene

ENSMUSG00000000326

Gene Name

catechol-O-methyltransferase

Synonyms

D16Wsu103e, Comt1, D330014B15Rik

MMRRC Submission

044870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18225636-18245602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18226771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 205 (K205R)

Ref Sequence

ENSEMBL: ENSMUSP00000130077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000335] [ENSMUST00000090103] [ENSMUST00000115609] [ENSMUST00000115610] [ENSMUST00000115612] [ENSMUST00000115613] [ENSMUST00000115614] [ENSMUST00000165430] [ENSMUST00000150253] [ENSMUST00000232241] [ENSMUST00000232025] [ENSMUST00000147720]

AlphaFold

O88587

Predicted Effect

probably benign
Transcript: ENSMUST00000000335
AA Change: K205R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000000335
Gene: ENSMUSG00000000326
AA Change: K205R

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Methyltransf_3	63	224	3.5e-24	PFAM
Pfam:Methyltransf_26	102	224	3.3e-9	PFAM
Pfam:Methyltransf_24	106	214	1.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090103

SMART Domains

Protein: ENSMUSP00000087562
Gene: ENSMUSG00000000325

Domain	Start	End	E-Value	Type
coiled coil region	11	46	N/A	INTRINSIC
low complexity region	89	99	N/A	INTRINSIC
low complexity region	117	138	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	208	227	N/A	INTRINSIC
ARM	391	431	4.48e-7	SMART
ARM	434	475	3.31e-10	SMART
Blast:ARM	476	533	2e-20	BLAST
ARM	536	582	2.1e1	SMART
ARM	652	693	9.55e1	SMART
ARM	699	739	4.05e-5	SMART
ARM	790	832	3.03e0	SMART
low complexity region	927	945	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115609
AA Change: K205R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000111272
Gene: ENSMUSG00000000326
AA Change: K205R

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Methyltransf_3	63	224	3.5e-24	PFAM
Pfam:Methyltransf_26	102	224	3.3e-9	PFAM
Pfam:Methyltransf_24	106	214	1.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115610

SMART Domains

Protein: ENSMUSP00000111273
Gene: ENSMUSG00000000325

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	53	74	N/A	INTRINSIC
low complexity region	77	93	N/A	INTRINSIC
low complexity region	144	163	N/A	INTRINSIC
ARM	327	367	4.48e-7	SMART
ARM	370	411	3.31e-10	SMART
Blast:ARM	412	469	1e-20	BLAST
ARM	472	518	2.1e1	SMART
low complexity region	555	563	N/A	INTRINSIC
ARM	582	623	9.55e1	SMART
ARM	629	669	4.05e-5	SMART
ARM	720	762	3.03e0	SMART
low complexity region	857	875	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115612

SMART Domains

Protein: ENSMUSP00000111275
Gene: ENSMUSG00000000325

Domain	Start	End	E-Value	Type
coiled coil region	11	46	N/A	INTRINSIC
low complexity region	89	99	N/A	INTRINSIC
low complexity region	117	138	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	208	227	N/A	INTRINSIC
ARM	391	431	4.48e-7	SMART
ARM	434	475	3.31e-10	SMART
Blast:ARM	476	533	2e-20	BLAST
ARM	536	582	2.1e1	SMART
low complexity region	619	627	N/A	INTRINSIC
ARM	646	687	9.55e1	SMART
ARM	693	733	4.05e-5	SMART
ARM	784	826	3.03e0	SMART
low complexity region	921	939	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115613

SMART Domains

Protein: ENSMUSP00000111276
Gene: ENSMUSG00000000325

Domain	Start	End	E-Value	Type
coiled coil region	11	46	N/A	INTRINSIC
low complexity region	89	99	N/A	INTRINSIC
low complexity region	117	138	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	208	227	N/A	INTRINSIC
ARM	391	431	4.48e-7	SMART
ARM	434	475	3.31e-10	SMART
Blast:ARM	476	533	2e-20	BLAST
ARM	536	582	2.1e1	SMART
ARM	652	693	9.55e1	SMART
ARM	699	739	4.05e-5	SMART
ARM	790	832	3.03e0	SMART
low complexity region	927	945	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115614

SMART Domains

Protein: ENSMUSP00000111278
Gene: ENSMUSG00000000325

Domain	Start	End	E-Value	Type
coiled coil region	11	46	N/A	INTRINSIC
low complexity region	89	99	N/A	INTRINSIC
low complexity region	117	138	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	208	227	N/A	INTRINSIC
ARM	391	431	4.48e-7	SMART
ARM	434	475	3.31e-10	SMART
Blast:ARM	476	533	2e-20	BLAST
ARM	536	582	2.1e1	SMART
low complexity region	619	627	N/A	INTRINSIC
ARM	646	687	9.55e1	SMART
ARM	693	733	4.05e-5	SMART
ARM	784	826	3.03e0	SMART
low complexity region	921	939	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165430
AA Change: K205R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000130077
Gene: ENSMUSG00000000326
AA Change: K205R

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Methyltransf_3	57	221	1.1e-22	PFAM
Pfam:Methyltransf_24	106	214	6.2e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152132

Predicted Effect

probably benign
Transcript: ENSMUST00000150253

Predicted Effect

probably benign
Transcript: ENSMUST00000232241

Predicted Effect

probably benign
Transcript: ENSMUST00000232025

Predicted Effect

probably benign
Transcript: ENSMUST00000147720

SMART Domains

Protein: ENSMUSP00000121810
Gene: ENSMUSG00000000326

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Methyltransf_3	62	171	4.1e-18	PFAM
Pfam:Methyltransf_24	106	171	4.4e-9	PFAM

Meta Mutation Damage Score

0.2892

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for disruption of this gene are viable, fertile, and show no gross or histological abnormalities. However dopamine levels in the frontal cortex of males are increased. Also, males show increased aggression and females show increased anxiety. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 119,900,977 (GRCm39)	P1083S	probably benign	Het
Abcb5	T	A	12: 118,908,641 (GRCm39)	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,312,624 (GRCm39)	V67A	possibly damaging	Het
Agk	T	A	6: 40,345,504 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,777,603 (GRCm39)	M586K	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Armc1	A	G	3: 19,198,562 (GRCm39)	F133L	possibly damaging	Het
Bank1	T	C	3: 135,799,069 (GRCm39)	E424G	probably damaging	Het
Cacna1a	A	G	8: 85,306,834 (GRCm39)	E1363G	probably damaging	Het
Cacna1d	C	A	14: 29,764,743 (GRCm39)	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,821,869 (GRCm39)	L606*	probably null	Het
Ccdc8	C	T	7: 16,730,562 (GRCm39)	Q684*	probably null	Het
Ces1b	T	A	8: 93,793,648 (GRCm39)	K314*	probably null	Het
Ces1e	T	A	8: 93,941,756 (GRCm39)	N238I	probably damaging	Het
Chd4	A	G	6: 125,091,263 (GRCm39)	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,949,611 (GRCm39)	D640E	probably damaging	Het
Col7a1	C	T	9: 108,787,196 (GRCm39)	T559I	unknown	Het
Dbp	A	T	7: 45,357,828 (GRCm39)	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,276,493 (GRCm39)	T470A	possibly damaging	Het
Eml6	T	A	11: 29,704,987 (GRCm39)	D1519V	probably damaging	Het
Evpl	T	A	11: 116,128,732 (GRCm39)	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,711,186 (GRCm39)	I86N	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,889,503 (GRCm39)	S301P	probably benign	Het
Gas2l1	C	T	11: 5,014,254 (GRCm39)	V69I	probably damaging	Het
Gm2042	T	A	12: 87,924,854 (GRCm39)	I107K	probably damaging	Het
Gucy1b1	T	C	3: 81,947,054 (GRCm39)	D385G	probably null	Het
Ints1	T	A	5: 139,750,930 (GRCm39)	E824D	probably damaging	Het
Itfg1	T	C	8: 86,561,707 (GRCm39)	D142G	probably benign	Het
Jaml	A	G	9: 45,018,677 (GRCm39)	N359D	probably benign	Het
Kcnh7	T	A	2: 62,680,721 (GRCm39)	I289L	probably benign	Het
Klf12	G	A	14: 100,347,212 (GRCm39)	Q40*	probably null	Het
Mcm4	A	C	16: 15,447,226 (GRCm39)	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,917,358 (GRCm39)	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,764,208 (GRCm39)	V86M	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Narf	T	A	11: 121,133,452 (GRCm39)	H84Q	probably benign	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otog	A	C	7: 45,898,495 (GRCm39)	E204D	probably benign	Het
Parp8	G	A	13: 117,031,651 (GRCm39)	H354Y	possibly damaging	Het
Pcnx1	C	A	12: 82,011,254 (GRCm39)	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 110,351,081 (GRCm39)	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,453,059 (GRCm39)	E3995K	probably benign	Het
Prdm9	A	T	17: 15,765,218 (GRCm39)	Y521N	probably benign	Het
Prex2	A	G	1: 11,254,680 (GRCm39)	S1105G	probably damaging	Het
Prss35	T	A	9: 86,638,153 (GRCm39)	F308I	probably damaging	Het
Rab22a	C	T	2: 173,542,848 (GRCm39)	A167V	probably benign	Het
Rims2	A	G	15: 39,430,369 (GRCm39)	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,934,611 (GRCm39)	M253K	probably benign	Het
Ryr3	T	C	2: 112,482,955 (GRCm39)	D4269G	probably damaging	Het
Snx11	T	C	11: 96,660,732 (GRCm39)		probably benign	Het
Son	A	G	16: 91,454,076 (GRCm39)	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,797,813 (GRCm39)	R1880L	probably benign	Het
Sun1	G	A	5: 139,201,014 (GRCm39)		probably null	Het
Tprn	A	G	2: 25,154,050 (GRCm39)	R451G	probably benign	Het
Trbv30	T	A	6: 41,258,311 (GRCm39)	M1K	probably null	Het
Ttn	C	A	2: 76,568,565 (GRCm39)	G25697W	probably damaging	Het
Ubb	T	G	11: 62,442,353 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,331 (GRCm39)	R1038C	probably damaging	Het
Usp7	T	C	16: 8,514,775 (GRCm39)	M687V	probably benign	Het
Zfp160	G	A	17: 21,240,996 (GRCm39)	M21I	probably benign	Het
Zfp868	T	C	8: 70,064,747 (GRCm39)	N196S	probably benign	Het
Zup1	A	T	10: 33,804,025 (GRCm39)	I483N	probably damaging	Het

Other mutations in Comt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02363:Comt	APN	16	18,229,881 (GRCm39)	missense	probably benign	0.21
IGL02568:Comt	APN	16	18,230,454 (GRCm39)	missense	probably damaging	0.99
IGL03286:Comt	APN	16	18,230,490 (GRCm39)	missense	probably damaging	1.00
R0845:Comt	UTSW	16	18,226,711 (GRCm39)	missense	probably damaging	1.00
R1318:Comt	UTSW	16	18,226,641 (GRCm39)	missense	probably damaging	1.00
R1541:Comt	UTSW	16	18,230,565 (GRCm39)	missense	probably benign	0.20
R4496:Comt	UTSW	16	18,230,437 (GRCm39)	splice site	probably null
R5619:Comt	UTSW	16	18,230,469 (GRCm39)	missense	probably damaging	1.00
R7286:Comt	UTSW	16	18,229,440 (GRCm39)	missense	probably damaging	1.00
R8061:Comt	UTSW	16	18,230,040 (GRCm39)	missense	probably benign	0.00
R8419:Comt	UTSW	16	18,230,637 (GRCm39)	nonsense	probably null
R8872:Comt	UTSW	16	18,245,239 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGTCATCGTGCAGAAGGG -3'
(R):5'- TCACTGTGTGGCCTACATGC -3'

Sequencing Primer
(F):5'- AAGCTCATCAGGCTGAGTGGTC -3'
(R):5'- TACATGCTCCTCTAGGGCTGG -3'

Posted On

2018-08-01