Mutagenetix > Incidental Mutation

Incidental Mutation 'R5959:Srr'

471363

Institutional Source

Beutler Lab

Gene Symbol

Srr

Ensembl Gene

ENSMUSG00000001323

Gene Name

serine racemase

Synonyms

Rgsc34, M100034

MMRRC Submission

044146-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R5959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74797185-74816774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74801891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 126 (V126A)

Ref Sequence

ENSEMBL: ENSMUSP00000118485 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000065211
AA Change: V126A

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067552
Gene: ENSMUSG00000001323
AA Change: V126A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104449

Predicted Effect

probably benign
Transcript: ENSMUST00000108447
AA Change: V126A

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104086
Gene: ENSMUSG00000001323
AA Change: V126A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108448
AA Change: V126A

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104087
Gene: ENSMUSG00000001323
AA Change: V126A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121738
AA Change: V126A

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113372
Gene: ENSMUSG00000001323
AA Change: V126A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123855
AA Change: V126A

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118485
Gene: ENSMUSG00000001323
AA Change: V126A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128556
AA Change: V126A

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120012
Gene: ENSMUSG00000001323
AA Change: V126A

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: ENSMUST00000127499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135587

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

probably benign
Transcript: ENSMUST00000153316

Predicted Effect

probably benign
Transcript: ENSMUST00000138612

SMART Domains

Protein: ENSMUSP00000119256
Gene: ENSMUSG00000001323

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

Meta Mutation Damage Score

0.8459

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,106,792 (GRCm39)	N164Y	probably damaging	Het
Acp6	A	G	3: 97,073,888 (GRCm39)	E164G	probably damaging	Het
Adcy5	A	T	16: 35,118,780 (GRCm39)	I1044F	probably damaging	Het
Ahcyl2	A	G	6: 29,886,173 (GRCm39)	D363G	probably damaging	Het
Ankrd28	T	C	14: 31,451,879 (GRCm39)	T273A	probably benign	Het
Cc2d1a	A	T	8: 84,860,132 (GRCm39)	Y862*	probably null	Het
Cfap221	T	A	1: 119,860,511 (GRCm39)	H705L	probably damaging	Het
Cfap61	C	T	2: 145,789,053 (GRCm39)	T19M	probably benign	Het
Chga	T	C	12: 102,528,114 (GRCm39)	S202P	probably benign	Het
Cnmd	T	C	14: 79,894,109 (GRCm39)	I93V	probably damaging	Het
Cpne1	G	A	2: 155,920,143 (GRCm39)	S188L	probably benign	Het
Dchs2	G	A	3: 83,232,725 (GRCm39)	V2237I	probably benign	Het
Dguok	C	T	6: 83,467,574 (GRCm39)	R91H	probably benign	Het
Eed	A	G	7: 89,618,835 (GRCm39)	I193T	probably damaging	Het
Fasn	C	T	11: 120,699,390 (GRCm39)	E2353K	probably damaging	Het
Fpr-rs7	G	A	17: 20,334,011 (GRCm39)	H160Y	probably benign	Het
Gramd4	T	A	15: 86,011,758 (GRCm39)	M272K	probably damaging	Het
Hfm1	A	G	5: 107,022,783 (GRCm39)	S940P	probably damaging	Het
Ifnlr1	T	A	4: 135,432,652 (GRCm39)	S363T	possibly damaging	Het
Jak3	A	G	8: 72,134,715 (GRCm39)	N481D	probably damaging	Het
Kcnj3	A	G	2: 55,327,330 (GRCm39)	K40E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Lpcat4	T	A	2: 112,070,380 (GRCm39)	L31H	possibly damaging	Het
Myo1c	A	G	11: 75,548,345 (GRCm39)	T38A	probably benign	Het
Myt1l	T	C	12: 29,970,039 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,338,802 (GRCm39)	V214A	probably damaging	Het
Neb	C	A	2: 52,046,389 (GRCm39)	R6537L	probably benign	Het
Nwd2	T	A	5: 63,965,413 (GRCm39)	F1666I	probably benign	Het
Or52z1	T	A	7: 103,436,723 (GRCm39)	I254F	probably damaging	Het
Or8b1	A	G	9: 38,400,207 (GRCm39)	N294S	probably damaging	Het
Prmt8	C	A	6: 127,706,381 (GRCm39)	V137L	probably damaging	Het
Ptpn21	A	T	12: 98,675,148 (GRCm39)		probably null	Het
Rab15	A	G	12: 76,869,043 (GRCm39)	S17P	probably damaging	Het
Rbm5	T	G	9: 107,629,339 (GRCm39)	I338L	probably benign	Het
Rragc	G	A	4: 123,817,767 (GRCm39)	S218N	probably damaging	Het
Sacs	T	C	14: 61,449,849 (GRCm39)	M3965T	probably damaging	Het
Sgo2b	T	A	8: 64,380,322 (GRCm39)	I837F	probably benign	Het
Sorcs3	T	G	19: 48,737,835 (GRCm39)	C751G	probably damaging	Het
Sowahc	A	G	10: 59,058,920 (GRCm39)	D352G	probably benign	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Spata31f1e	T	A	4: 42,793,492 (GRCm39)	K213N	probably damaging	Het
Tenm3	T	A	8: 49,099,482 (GRCm39)	R108*	probably null	Het
Traf3ip2	A	T	10: 39,517,337 (GRCm39)	M403L	probably benign	Het
Trappc11	T	C	8: 47,954,593 (GRCm39)	D949G	probably damaging	Het
Ttn	A	G	2: 76,544,960 (GRCm39)	I32714T	probably damaging	Het
Ttn	T	A	2: 76,693,849 (GRCm39)	T218S	possibly damaging	Het
Uaca	A	T	9: 60,778,052 (GRCm39)	H811L	probably damaging	Het
Ugt2b1	T	C	5: 87,073,813 (GRCm39)	E182G	probably benign	Het
Vmn1r49	T	C	6: 90,049,786 (GRCm39)	D72G	probably damaging	Het
Vmn2r80	A	T	10: 79,005,313 (GRCm39)	M317L	probably benign	Het
Vwa2	T	C	19: 56,869,604 (GRCm39)	L13P	possibly damaging	Het
Zc3hav1	G	A	6: 38,284,379 (GRCm39)	T912I	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfp948	A	G	17: 21,807,776 (GRCm39)	K323E	probably benign	Het
Zfyve27	T	G	19: 42,167,887 (GRCm39)	V143G	unknown	Het

Other mutations in Srr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02949:Srr	APN	11	74,799,563 (GRCm39)	missense	probably benign	0.00
IGL03268:Srr	APN	11	74,803,943 (GRCm39)	missense	probably benign	0.06
PIT4382001:Srr	UTSW	11	74,801,134 (GRCm39)	missense	probably benign	0.42
R0718:Srr	UTSW	11	74,801,891 (GRCm39)	missense	possibly damaging	0.74
R1588:Srr	UTSW	11	74,799,629 (GRCm39)	missense	possibly damaging	0.93
R1960:Srr	UTSW	11	74,799,542 (GRCm39)	missense	probably damaging	1.00
R1986:Srr	UTSW	11	74,799,545 (GRCm39)	missense	probably damaging	1.00
R4043:Srr	UTSW	11	74,799,947 (GRCm39)	missense	probably benign	0.08
R4112:Srr	UTSW	11	74,803,898 (GRCm39)	missense	probably benign
R4877:Srr	UTSW	11	74,798,606 (GRCm39)	unclassified	probably benign
R5856:Srr	UTSW	11	74,803,838 (GRCm39)	missense	possibly damaging	0.92
R6362:Srr	UTSW	11	74,801,028 (GRCm39)	missense	probably damaging	1.00
R7163:Srr	UTSW	11	74,803,828 (GRCm39)	missense	probably damaging	0.96
R7706:Srr	UTSW	11	74,803,961 (GRCm39)	critical splice acceptor site	probably null
R7817:Srr	UTSW	11	74,799,524 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGGAATGGCTAGTTCATCTAGG -3'
(R):5'- GTAGTACAGAGCTGCCCGTTTG -3'

Sequencing Primer
(F):5'- CCTGAGTGCTAGAATAGGCATGTCC -3'
(R):5'- TGCCCGTTTGAGTGTAAGCAAAATG -3'

Posted On

2017-03-31