Mutagenetix > Incidental Mutation

Incidental Mutation 'R1592:Vmn1r223'

175686

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r223

Ensembl Gene

ENSMUSG00000069280

Gene Name

vomeronasal 1 receptor 223

Synonyms

Gm11330

MMRRC Submission

039629-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R1592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23433408-23434493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23433837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 144 (T144S)

Ref Sequence

ENSEMBL: ENSMUSP00000089312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091719]

AlphaFold

Q5SSA0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091719
AA Change: T144S

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000089312
Gene: ENSMUSG00000069280
AA Change: T144S

Domain	Start	End	E-Value	Type
low complexity region	46	59	N/A	INTRINSIC
Pfam:TAS2R	63	355	6.6e-10	PFAM
Pfam:V1R	94	357	2.1e-39	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	C	5: 121,783,444 (GRCm39)	E327G	probably damaging	Het
Acp5	A	T	9: 22,039,147 (GRCm39)	W189R	probably damaging	Het
Adamts8	T	C	9: 30,854,472 (GRCm39)	S114P	probably damaging	Het
Alkbh3	A	C	2: 93,838,769 (GRCm39)		probably null	Het
Ankrd13d	T	C	19: 4,332,919 (GRCm39)	H27R	probably benign	Het
Aox1	A	G	1: 58,339,853 (GRCm39)	N382S	probably benign	Het
Aspg	G	A	12: 112,086,406 (GRCm39)	R220Q	probably benign	Het
Atg16l2	C	A	7: 100,941,193 (GRCm39)	G403V	probably damaging	Het
Bcat1	G	T	6: 144,955,784 (GRCm39)	Q299K	probably benign	Het
Cc2d1b	C	T	4: 108,483,868 (GRCm39)		probably benign	Het
Cdh26	T	C	2: 178,091,684 (GRCm39)	F81S	probably damaging	Het
Cnbd2	A	G	2: 156,177,322 (GRCm39)	I222M	probably benign	Het
Ephb3	T	C	16: 21,040,450 (GRCm39)	V562A	probably damaging	Het
Fam186a	T	C	15: 99,838,199 (GRCm39)	T2682A	probably benign	Het
Fat2	T	C	11: 55,182,696 (GRCm39)		probably null	Het
Fat4	A	T	3: 39,061,326 (GRCm39)	D4303V	probably damaging	Het
Fbln1	T	A	15: 85,115,665 (GRCm39)	S234T	probably benign	Het
Gldc	G	A	19: 30,138,077 (GRCm39)		probably benign	Het
Gli1	A	C	10: 127,167,198 (GRCm39)	V685G	probably damaging	Het
H2-T22	T	C	17: 36,352,469 (GRCm39)	N152S	probably damaging	Het
Inpp5d	A	T	1: 87,593,254 (GRCm39)	D118V	possibly damaging	Het
Ints10	A	G	8: 69,255,555 (GRCm39)	I182V	possibly damaging	Het
Ipcef1	C	T	10: 6,885,182 (GRCm39)		probably null	Het
Kcnj3	G	T	2: 55,327,898 (GRCm39)	R229L	probably damaging	Het
Klf11	C	A	12: 24,703,737 (GRCm39)	D57E	probably damaging	Het
Krt73	G	T	15: 101,710,674 (GRCm39)	S20*	probably null	Het
Lactbl1	A	G	4: 136,363,187 (GRCm39)		probably null	Het
Mapk10	T	C	5: 103,186,487 (GRCm39)	D45G	possibly damaging	Het
Mfrp	G	A	9: 44,014,519 (GRCm39)	C222Y	probably damaging	Het
Mga	A	T	2: 119,795,147 (GRCm39)	I2944F	possibly damaging	Het
Msh2	A	G	17: 87,987,441 (GRCm39)		probably null	Het
Nckap1l	T	A	15: 103,390,607 (GRCm39)		probably null	Het
Or5m9	A	G	2: 85,877,333 (GRCm39)	N169S	probably benign	Het
Pitpnm1	T	A	19: 4,156,964 (GRCm39)		probably null	Het
Sik2	C	T	9: 50,906,971 (GRCm39)	V85I	probably damaging	Het
Slc26a7	T	A	4: 14,552,470 (GRCm39)	E229V	probably benign	Het
Spty2d1	A	T	7: 46,648,637 (GRCm39)	D97E	possibly damaging	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tdrd3	T	A	14: 87,743,322 (GRCm39)	N417K	probably damaging	Het
Uggt1	C	A	1: 36,241,939 (GRCm39)	A332S	probably benign	Het
Usp53	A	T	3: 122,727,699 (GRCm39)	L961*	probably null	Het
Wdfy1	G	A	1: 79,683,972 (GRCm39)	R388C	probably damaging	Het
Zfp995	T	A	17: 22,106,321 (GRCm39)	M1L	probably damaging	Het

Other mutations in Vmn1r223

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Vmn1r223	APN	13	23,434,254 (GRCm39)	missense	probably damaging	1.00
IGL01016:Vmn1r223	APN	13	23,434,237 (GRCm39)	missense	probably damaging	1.00
IGL01353:Vmn1r223	APN	13	23,433,426 (GRCm39)	missense	unknown
IGL01941:Vmn1r223	APN	13	23,434,407 (GRCm39)	missense	possibly damaging	0.94
IGL02976:Vmn1r223	APN	13	23,434,165 (GRCm39)	missense	probably damaging	1.00
IGL03064:Vmn1r223	APN	13	23,434,153 (GRCm39)	missense	probably damaging	1.00
IGL03136:Vmn1r223	APN	13	23,433,933 (GRCm39)	missense	possibly damaging	0.81
PIT4812001:Vmn1r223	UTSW	13	23,434,060 (GRCm39)	missense	probably damaging	0.99
R1468:Vmn1r223	UTSW	13	23,434,038 (GRCm39)	missense	possibly damaging	0.81
R1468:Vmn1r223	UTSW	13	23,434,038 (GRCm39)	missense	possibly damaging	0.81
R1640:Vmn1r223	UTSW	13	23,434,348 (GRCm39)	missense	probably damaging	1.00
R2116:Vmn1r223	UTSW	13	23,433,832 (GRCm39)	missense	probably damaging	1.00
R3076:Vmn1r223	UTSW	13	23,434,335 (GRCm39)	missense	probably benign	0.15
R4229:Vmn1r223	UTSW	13	23,433,585 (GRCm39)	missense	probably benign	0.08
R4230:Vmn1r223	UTSW	13	23,433,585 (GRCm39)	missense	probably benign	0.08
R5420:Vmn1r223	UTSW	13	23,433,675 (GRCm39)	missense	probably benign	0.02
R6412:Vmn1r223	UTSW	13	23,433,825 (GRCm39)	missense	probably benign	0.05
R6424:Vmn1r223	UTSW	13	23,434,345 (GRCm39)	missense	probably damaging	1.00
R6607:Vmn1r223	UTSW	13	23,433,919 (GRCm39)	missense	probably damaging	1.00
R6944:Vmn1r223	UTSW	13	23,433,483 (GRCm39)	missense	unknown
R7256:Vmn1r223	UTSW	13	23,434,036 (GRCm39)	missense	probably damaging	1.00
R8241:Vmn1r223	UTSW	13	23,433,982 (GRCm39)	missense	probably benign	0.38
R8315:Vmn1r223	UTSW	13	23,434,339 (GRCm39)	missense	probably damaging	1.00
R8347:Vmn1r223	UTSW	13	23,434,020 (GRCm39)	missense	probably damaging	1.00
R8975:Vmn1r223	UTSW	13	23,434,248 (GRCm39)	missense	possibly damaging	0.84
R9075:Vmn1r223	UTSW	13	23,433,600 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CTCCTGTGAAGGTTGAGAAGGCATC -3'
(R):5'- AGCCACTTAACTGTGTGCCTGG -3'

Sequencing Primer
(F):5'- TACACTGTTCATTCCACGGAAG -3'
(R):5'- TGCCTGGATGGTAGCATATAAC -3'

Posted On

2014-04-24