Mutagenetix > Incidental Mutation

Incidental Mutation 'R5856:Srr'

454921

Institutional Source

Beutler Lab

Gene Symbol

Srr

Ensembl Gene

ENSMUSG00000001323

Gene Name

serine racemase

Synonyms

MMRRC Submission

043230-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R5856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74906359-74925948 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74913012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 40 (R40C)

Ref Sequence

ENSEMBL: ENSMUSP00000120012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000065211] [ENSMUST00000108447] [ENSMUST00000108448] [ENSMUST00000121738] [ENSMUST00000123855] [ENSMUST00000128230] [ENSMUST00000128556] [ENSMUST00000138612] [ENSMUST00000153316]

AlphaFold

Q9QZX7

Predicted Effect

probably benign
Transcript: ENSMUST00000045807

SMART Domains

Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335

Domain	Start	End	E-Value	Type
low complexity region	16	25	N/A	INTRINSIC
AARP2CN	228	309	1.14e-28	SMART
low complexity region	373	383	N/A	INTRINSIC
low complexity region	407	421	N/A	INTRINSIC
low complexity region	429	452	N/A	INTRINSIC
coiled coil region	453	478	N/A	INTRINSIC
DUF663	486	772	2.6e-179	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065211
AA Change: R40C

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067552
Gene: ENSMUSG00000001323
AA Change: R40C

Domain	Start	End	E-Value	Type
Pfam:PALP	19	314	3.3e-75	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108447
AA Change: R40C

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104086
Gene: ENSMUSG00000001323
AA Change: R40C

Domain	Start	End	E-Value	Type
Pfam:PALP	19	179	1.8e-41	PFAM
Pfam:PALP	173	289	4.2e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108448
AA Change: R40C

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104087
Gene: ENSMUSG00000001323
AA Change: R40C

Domain	Start	End	E-Value	Type
Pfam:PALP	19	314	2.1e-75	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121738
AA Change: R40C

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113372
Gene: ENSMUSG00000001323
AA Change: R40C

Domain	Start	End	E-Value	Type
Pfam:PALP	19	314	3.3e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123855
AA Change: R40C

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000118485
Gene: ENSMUSG00000001323
AA Change: R40C

Domain	Start	End	E-Value	Type
Pfam:PALP	19	166	1.5e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127499

Predicted Effect

probably benign
Transcript: ENSMUST00000128230

SMART Domains

Protein: ENSMUSP00000121384
Gene: ENSMUSG00000038335

Domain	Start	End	E-Value	Type
low complexity region	16	25	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128556
AA Change: R40C

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120012
Gene: ENSMUSG00000001323
AA Change: R40C

Domain	Start	End	E-Value	Type
Pfam:PALP	19	182	2.6e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135587

Predicted Effect

probably benign
Transcript: ENSMUST00000138612
AA Change: R40C

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119256
Gene: ENSMUSG00000001323
AA Change: R40C

Domain	Start	End	E-Value	Type
Pfam:PALP	19	112	4.1e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147817

Predicted Effect

probably benign
Transcript: ENSMUST00000153316

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit decreased D-serine levels in the cerebral cortex and hippocampus, and neuronal damage associated with NMDA excitotoxicity and beta-amyloid peptide 1-42 exposure is decreased. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,868,359	I7M	unknown	Het
Adgrf5	A	G	17: 43,446,120	T497A	probably benign	Het
Ano5	T	C	7: 51,585,326	I669T	probably benign	Het
Arhgap11a	A	T	2: 113,833,771	N722K	possibly damaging	Het
Atm	A	T	9: 53,495,955	I1161K	possibly damaging	Het
Atp13a4	T	C	16: 29,433,987	T714A	possibly damaging	Het
BC051665	T	A	13: 60,784,500	M92L	probably benign	Het
Car3	G	A	3: 14,871,641	V255M	probably damaging	Het
Cnot11	C	A	1: 39,537,453	F179L	probably benign	Het
Dctn1	A	G	6: 83,197,865	Y1013C	probably damaging	Het
Gm19965	A	G	1: 116,821,849	D420G	probably benign	Het
Gm5444	A	G	13: 4,771,684		noncoding transcript	Het
Hydin	A	T	8: 110,541,842	D2946V	probably damaging	Het
Hyou1	C	T	9: 44,381,344	R119C	probably damaging	Het
Ighm	A	T	12: 113,421,602	L246Q	unknown	Het
Itpr3	A	G	17: 27,106,405	E1324G	probably damaging	Het
Loxl4	G	T	19: 42,595,366	Q749K	possibly damaging	Het
Muc2	C	A	7: 141,745,644		probably benign	Het
Myh11	T	C	16: 14,205,976	T1505A	probably benign	Het
Nsmce2	A	G	15: 59,378,943	E21G	probably damaging	Het
Olfr1220	T	A	2: 89,097,910	I6F	probably benign	Het
Olfr273	T	A	4: 52,856,516		probably benign	Het
Plaa	A	G	4: 94,583,487	I375T	probably benign	Het
Pou2f1	C	T	1: 165,915,130	A65T	probably benign	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Rxfp1	T	A	3: 79,663,313	N271Y	possibly damaging	Het
Sema5b	T	G	16: 35,646,386	Y219*	probably null	Het
Slc35f3	G	T	8: 126,321,080	R53L	probably benign	Het
Slc44a5	T	C	3: 154,258,392	V465A	possibly damaging	Het
Slc9a5	A	G	8: 105,357,165	I446V	possibly damaging	Het
Slf1	A	T	13: 77,106,087	D204E	possibly damaging	Het
Sox5	T	A	6: 144,209,362	T3S	probably damaging	Het
Tas2r115	T	A	6: 132,737,538	H150L	possibly damaging	Het
Tet2	A	G	3: 133,486,640	S678P	probably benign	Het
Tmem11	T	C	11: 60,864,858	K183E	probably damaging	Het
Upf1	T	C	8: 70,334,762		probably null	Het
Xpo6	A	T	7: 126,149,502		probably benign	Het
Zfp638	C	T	6: 83,977,065	S1384L	probably damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het

Other mutations in Srr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02949:Srr	APN	11	74908737	missense	probably benign	0.00
IGL03268:Srr	APN	11	74913117	missense	probably benign	0.06
PIT4382001:Srr	UTSW	11	74910308	missense	probably benign	0.42
R0718:Srr	UTSW	11	74911065	missense	possibly damaging	0.74
R1588:Srr	UTSW	11	74908803	missense	possibly damaging	0.93
R1960:Srr	UTSW	11	74908716	missense	probably damaging	1.00
R1986:Srr	UTSW	11	74908719	missense	probably damaging	1.00
R4043:Srr	UTSW	11	74909121	missense	probably benign	0.08
R4112:Srr	UTSW	11	74913072	missense	probably benign
R4877:Srr	UTSW	11	74907780	unclassified	probably benign
R5959:Srr	UTSW	11	74911065	missense	possibly damaging	0.74
R6362:Srr	UTSW	11	74910202	missense	probably damaging	1.00
R7163:Srr	UTSW	11	74913002	missense	probably damaging	0.96
R7706:Srr	UTSW	11	74913135	critical splice acceptor site	probably null
R7817:Srr	UTSW	11	74908698	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCATAGCAATGTTGTAAACCTGG -3'
(R):5'- GCCATTGTCCTGTTTCAGCG -3'

Sequencing Primer
(F):5'- GGTACCCTCATCTTCAAAATTGTG -3'
(R):5'- CATTGTCCTGTTTCAGCGTTTTAAAG -3'

Posted On

2017-02-10