Mutagenetix > Incidental Mutation

Incidental Mutation 'R6373:Carns1'

513649

Institutional Source

Beutler Lab

Gene Symbol

Carns1

Ensembl Gene

ENSMUSG00000075289

Gene Name

carnosine synthase 1

Synonyms

Atpgd1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4164324-4175479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4166516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 556 (Q556K)

Ref Sequence

ENSEMBL: ENSMUSP00000131624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025749] [ENSMUST00000118483] [ENSMUST00000127605] [ENSMUST00000130469] [ENSMUST00000137431] [ENSMUST00000167055]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025749

SMART Domains

Protein: ENSMUSP00000025749
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	328	2.56e-103	SMART
S_TK_X	329	391	2.6e-26	SMART
low complexity region	406	421	N/A	INTRINSIC
low complexity region	428	485	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118483

SMART Domains

Protein: ENSMUSP00000112512
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	328	2.56e-103	SMART
S_TK_X	329	384	1.69e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125057

Predicted Effect

probably benign
Transcript: ENSMUST00000127605

SMART Domains

Protein: ENSMUSP00000123376
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	304	1.6e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130469

SMART Domains

Protein: ENSMUSP00000117446
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:Pkinase	67	153	2.7e-14	PFAM
Pfam:Pkinase_Tyr	67	153	9.8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135911

Predicted Effect

probably benign
Transcript: ENSMUST00000137431

SMART Domains

Protein: ENSMUSP00000116744
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:Pkinase_Tyr	67	277	4.6e-31	PFAM
Pfam:Pkinase	67	278	2.2e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155303

Predicted Effect

probably benign
Transcript: ENSMUST00000167055
AA Change: Q556K

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131624
Gene: ENSMUSG00000075289
AA Change: Q556K

Domain	Start	End	E-Value	Type
low complexity region	206	217	N/A	INTRINSIC
low complexity region	312	328	N/A	INTRINSIC
low complexity region	332	348	N/A	INTRINSIC
low complexity region	399	410	N/A	INTRINSIC
low complexity region	414	433	N/A	INTRINSIC
low complexity region	490	496	N/A	INTRINSIC
Pfam:ATP-grasp_4	620	819	4.1e-46	PFAM
low complexity region	862	875	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181211

Meta Mutation Damage Score

0.0996

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

95% (37/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 9,988,240	L279P	probably damaging	Het
Aldh16a1	C	G	7: 45,146,271	V373L	probably benign	Het
Btn2a2	T	C	13: 23,481,829	K278E	probably benign	Het
Chd1	A	T	17: 15,738,636	E650V	probably damaging	Het
Cobl	A	G	11: 12,253,118	S1195P	probably damaging	Het
Ddx58	A	G	4: 40,216,487	Y504H	possibly damaging	Het
Deup1	T	C	9: 15,561,342	H464R	probably damaging	Het
Eva1a	T	C	6: 82,091,866	L58S	probably damaging	Het
Fign	A	C	2: 63,979,645	M427R	probably benign	Het
Gm6309	A	T	5: 146,170,275	I87N	probably damaging	Het
Gm7879	A	G	5: 43,913,551	T127A	probably damaging	Het
Helz	A	G	11: 107,595,184	T140A	probably benign	Het
Helz2	C	T	2: 181,233,467	E1745K	probably damaging	Het
Hist1h2ad	A	G	13: 23,574,853	K128R	probably benign	Het
Kif16b	A	T	2: 142,699,698	H1227Q	possibly damaging	Het
Mab21l1	A	T	3: 55,783,084	I31F	possibly damaging	Het
Mex3c	T	C	18: 73,589,994	M386T	probably benign	Het
Myh11	T	A	16: 14,205,130	I1644F	possibly damaging	Het
Nav2	C	T	7: 49,453,175	P513S	probably damaging	Het
Ncoa3	C	T	2: 166,059,347	S953F	possibly damaging	Het
Nmt2	A	G	2: 3,324,951	T462A	probably benign	Het
Nrxn2	T	C	19: 6,509,830	I163T	probably damaging	Het
Nrxn3	G	C	12: 89,976,469	G122R	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,845	I47M	possibly damaging	Het
Olfr385	A	G	11: 73,588,898	V280A	probably benign	Het
Parg	T	G	14: 32,209,497		probably null	Het
Pcdhb7	T	A	18: 37,342,211	C133*	probably null	Het
Rpe	T	C	1: 66,715,980	F174L	probably benign	Het
Rxrb	A	G	17: 34,033,559	N40S	probably benign	Het
Ryr3	C	A	2: 112,656,544	G3840W	probably damaging	Het
Smurf2	A	G	11: 106,833,769	L529P	probably damaging	Het
Sntg2	C	T	12: 30,258,041	R215H	probably benign	Het
Spata20	A	G	11: 94,483,400	V348A	probably benign	Het
Spink5	A	G	18: 43,990,672	E342G	probably damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Syce1l	T	A	8: 113,649,511	M31K	probably benign	Het
Ttn	C	T	2: 76,788,616	V14394I	probably damaging	Het
Twnk	G	A	19: 45,009,381	V450M	probably damaging	Het
Vangl1	T	C	3: 102,158,448	K407R	probably benign	Het
Vmn1r19	T	C	6: 57,405,332	I290T	unknown	Het

Other mutations in Carns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Carns1	APN	19	4166499	splice site	probably null
IGL02246:Carns1	APN	19	4166432	missense	possibly damaging	0.87
IGL02658:Carns1	APN	19	4173084	missense	probably benign	0.01
IGL02800:Carns1	APN	19	4166570	splice site	probably benign
R1750:Carns1	UTSW	19	4173157	missense	possibly damaging	0.63
R1902:Carns1	UTSW	19	4166338	missense	probably damaging	1.00
R1935:Carns1	UTSW	19	4165474	missense	probably damaging	1.00
R2434:Carns1	UTSW	19	4165449	missense	probably damaging	1.00
R2437:Carns1	UTSW	19	4165783	missense	possibly damaging	0.69
R3772:Carns1	UTSW	19	4170916	splice site	probably benign
R4091:Carns1	UTSW	19	4171683	missense	probably damaging	0.96
R4518:Carns1	UTSW	19	4170070	missense	probably benign	0.05
R4668:Carns1	UTSW	19	4165476	nonsense	probably null
R4737:Carns1	UTSW	19	4170928	intron	probably benign
R4751:Carns1	UTSW	19	4166418	missense	probably damaging	1.00
R5384:Carns1	UTSW	19	4171901	critical splice acceptor site	probably null
R6077:Carns1	UTSW	19	4170876	missense	probably benign	0.01
R6411:Carns1	UTSW	19	4166464	missense	probably damaging	1.00
R6470:Carns1	UTSW	19	4171783	missense	possibly damaging	0.85
R6486:Carns1	UTSW	19	4169980	missense	probably benign	0.04
R6915:Carns1	UTSW	19	4169913	missense	probably benign	0.34
R6981:Carns1	UTSW	19	4170082	missense	probably benign	0.00
R7936:Carns1	UTSW	19	4166153	missense	probably benign
R8025:Carns1	UTSW	19	4166506	missense	probably damaging	1.00
R9279:Carns1	UTSW	19	4166257	missense	possibly damaging	0.51
R9711:Carns1	UTSW	19	4166008	missense	possibly damaging	0.94
R9725:Carns1	UTSW	19	4166549	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCGCAACAGATGTAGCTG -3'
(R):5'- GGCTGAAGTAGGTGTCTCAC -3'

Sequencing Primer
(F):5'- ACAGATGTAGCTGTGTGCG -3'
(R):5'- GAAACCCATCCTGTATCG -3'

Posted On

2018-04-27