Mutagenetix > Incidental Mutation

Incidental Mutation 'R7124:Vmn2r30'

552202

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r30

Ensembl Gene

ENSMUSG00000070847

Gene Name

vomeronasal 2, receptor 30

Synonyms

V2r15

MMRRC Submission

045212-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R7124 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7311333-7337609 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7334184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 151 (S151N)

Ref Sequence

ENSEMBL: ENSMUSP00000134223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072475] [ENSMUST00000174368] [ENSMUST00000210877]

AlphaFold

K7N5W1

Predicted Effect

probably benign
Transcript: ENSMUST00000072475
AA Change: S151N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000072296
Gene: ENSMUSG00000070847
AA Change: S151N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	160	469	2.1e-25	PFAM
Pfam:NCD3G	512	565	8.1e-21	PFAM
Pfam:7tm_3	598	833	2.1e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174368
AA Change: S151N

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134223
Gene: ENSMUSG00000070847
AA Change: S151N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	155	468	1.5e-27	PFAM
Pfam:NCD3G	512	564	7.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210877

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	C	3: 124,414,393 (GRCm38)	S212R	probably benign	Het
4930562C15Rik	T	C	16: 4,864,332 (GRCm38)	S170P	probably benign	Het
9330182O14Rik	G	A	15: 40,144,907 (GRCm38)	C59Y	unknown	Het
AA986860	A	G	1: 130,742,887 (GRCm38)	E282G	possibly damaging	Het
Adam1a	G	T	5: 121,519,334 (GRCm38)	T632K	probably benign	Het
Aspg	G	T	12: 112,122,983 (GRCm38)	A402S	probably damaging	Het
Capn7	C	T	14: 31,336,685 (GRCm38)		probably benign	Het
Card9	C	T	2: 26,356,884 (GRCm38)		probably null	Het
Cdh13	T	C	8: 118,968,173 (GRCm38)	V254A	probably damaging	Het
Colec10	T	C	15: 54,462,371 (GRCm38)	V199A	probably damaging	Het
Copb2	T	C	9: 98,577,053 (GRCm38)	S283P	probably damaging	Het
Csmd1	G	T	8: 15,903,202 (GRCm38)	S3426R	probably damaging	Het
Cyp4f14	A	G	17: 32,914,588 (GRCm38)	V98A	probably benign	Het
Disp1	C	A	1: 183,087,466 (GRCm38)	R1130L	probably damaging	Het
Dysf	A	G	6: 84,190,901 (GRCm38)		probably null	Het
Eif4ebp1	T	C	8: 27,273,419 (GRCm38)	V80A	probably damaging	Het
Eloa	T	A	4: 136,009,141 (GRCm38)	I565F	probably damaging	Het
Espn	G	T	4: 152,131,264 (GRCm38)	H513N	probably benign	Het
Fam83c	C	T	2: 155,829,571 (GRCm38)	S648N	probably benign	Het
Fdxr	C	T	11: 115,269,577 (GRCm38)	V351M	probably benign	Het
Fras1	A	T	5: 96,714,401 (GRCm38)	D2213V	probably damaging	Het
Gbp4	T	A	5: 105,119,959 (GRCm38)	I474F	possibly damaging	Het
Gm11639	T	C	11: 104,738,274 (GRCm38)	F926S	probably benign	Het
Golgb1	T	C	16: 36,913,673 (GRCm38)	V1135A	probably benign	Het
Gpt2	G	A	8: 85,518,052 (GRCm38)	E325K	probably benign	Het
Hipk2	A	T	6: 38,818,478 (GRCm38)	Y285*	probably null	Het
Ifi27l2b	T	C	12: 103,451,320 (GRCm38)	I203V	probably damaging	Het
Itga10	T	A	3: 96,651,765 (GRCm38)	M390K	probably damaging	Het
Itgb8	G	T	12: 119,202,424 (GRCm38)	S124*	probably null	Het
Klhdc10	T	A	6: 30,441,827 (GRCm38)	F173I	probably damaging	Het
Kng2	T	G	16: 23,012,055 (GRCm38)	N168T	probably damaging	Het
Krtap24-1	T	C	16: 88,611,546 (GRCm38)	T231A	probably damaging	Het
Lbx2	A	T	6: 83,088,064 (GRCm38)	D194V	probably damaging	Het
Lrrc39	C	A	3: 116,565,913 (GRCm38)	Q36K	probably benign	Het
Madd	T	C	2: 91,162,048 (GRCm38)	E1093G	possibly damaging	Het
Mfap3l	A	G	8: 60,671,269 (GRCm38)	T182A	probably damaging	Het
Myo9b	T	A	8: 71,333,701 (GRCm38)	Y670*	probably null	Het
Nbea	A	G	3: 55,992,444 (GRCm38)	L1428P	probably damaging	Het
Nkx2-3	T	C	19: 43,614,806 (GRCm38)	Y284H	possibly damaging	Het
Nphp4	A	G	4: 152,555,684 (GRCm38)	D1009G	probably benign	Het
Npy2r	G	A	3: 82,541,183 (GRCm38)	A95V	probably damaging	Het
Nuggc	A	G	14: 65,608,802 (GRCm38)	E70G	probably damaging	Het
Or5ap2	T	C	2: 85,849,910 (GRCm38)	S153P	probably benign	Het
Or5m11	T	A	2: 85,951,473 (GRCm38)	S137T	possibly damaging	Het
Palld	A	T	8: 61,516,645 (GRCm38)	V1215D	unknown	Het
Pard6g	T	C	18: 80,117,125 (GRCm38)	I151T	possibly damaging	Het
Parp12	T	C	6: 39,111,736 (GRCm38)	I189V	probably benign	Het
Parp4	A	G	14: 56,602,799 (GRCm38)	I554V	probably benign	Het
Pcnx2	G	A	8: 125,753,617 (GRCm38)	P1984S	probably damaging	Het
Piwil4	T	C	9: 14,736,900 (GRCm38)	M128V	probably benign	Het
Polr2a	C	A	11: 69,737,462 (GRCm38)	E1302*	probably null	Het
Psg17	C	G	7: 18,814,497 (GRCm38)	G450R	probably damaging	Het
Psg17	C	A	7: 18,814,496 (GRCm38)	G450V	probably damaging	Het
Rag1	T	C	2: 101,643,783 (GRCm38)	E338G	probably damaging	Het
Rev3l	A	T	10: 39,822,167 (GRCm38)	K887*	probably null	Het
Rragd	T	C	4: 32,996,027 (GRCm38)	F124S	possibly damaging	Het
Scube1	A	T	15: 83,629,511 (GRCm38)		probably null	Het
Sfpq	A	T	4: 127,025,932 (GRCm38)	D490V	possibly damaging	Het
Smc1b	G	T	15: 85,071,597 (GRCm38)	Q1034K	probably damaging	Het
Smg7	T	C	1: 152,878,080 (GRCm38)	N5S	probably benign	Het
Spata31d1a	A	C	13: 59,702,487 (GRCm38)	L609R	probably damaging	Het
Ssh2	A	G	11: 77,454,338 (GRCm38)	K1050E	probably benign	Het
Stab1	G	A	14: 31,160,867 (GRCm38)	T393I	possibly damaging	Het
Sult2a4	C	T	7: 13,988,395 (GRCm38)	W49*	probably null	Het
Thrap3	A	T	4: 126,180,438 (GRCm38)	S172T	unknown	Het
Tmem130	A	G	5: 144,750,911 (GRCm38)	V205A	probably damaging	Het
Ube2d2b	A	G	5: 107,830,851 (GRCm38)	I123V	probably benign	Het
Unc79	G	T	12: 103,061,393 (GRCm38)	L414F	probably damaging	Het
Vmn2r54	T	A	7: 12,622,151 (GRCm38)	T443S	probably benign	Het
Zfp229	T	A	17: 21,742,616 (GRCm38)	S51T	probably damaging	Het
Zfp617	T	C	8: 71,932,540 (GRCm38)	L238P	probably damaging	Het
Zfp707	T	A	15: 75,973,549 (GRCm38)	C87*	probably null	Het
Zfp853	T	C	5: 143,289,607 (GRCm38)	K101R	unknown	Het

Other mutations in Vmn2r30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01797:Vmn2r30	APN	7	7,334,196 (GRCm38)	missense	probably benign
IGL02114:Vmn2r30	APN	7	7,337,409 (GRCm38)	missense	possibly damaging	0.62
IGL02429:Vmn2r30	APN	7	7,334,244 (GRCm38)	missense	possibly damaging	0.95
IGL03214:Vmn2r30	APN	7	7,334,260 (GRCm38)	missense	probably benign	0.00
R1723:Vmn2r30	UTSW	7	7,334,260 (GRCm38)	missense	probably benign	0.00
R4472:Vmn2r30	UTSW	7	7,317,092 (GRCm38)	missense	probably damaging	1.00
R5409:Vmn2r30	UTSW	7	7,312,548 (GRCm38)	missense	probably damaging	1.00
R5979:Vmn2r30	UTSW	7	7,312,335 (GRCm38)	missense	probably damaging	0.99
R6035:Vmn2r30	UTSW	7	7,334,351 (GRCm38)	missense	probably benign	0.34
R6035:Vmn2r30	UTSW	7	7,334,351 (GRCm38)	missense	probably benign	0.34
R6336:Vmn2r30	UTSW	7	7,334,308 (GRCm38)	missense	probably benign	0.03
R6904:Vmn2r30	UTSW	7	7,312,548 (GRCm38)	missense	probably damaging	1.00
R8415:Vmn2r30	UTSW	7	7,312,360 (GRCm38)	missense	probably damaging	0.98
R8558:Vmn2r30	UTSW	7	7,312,656 (GRCm38)	missense	possibly damaging	0.61
R9267:Vmn2r30	UTSW	7	7,337,433 (GRCm38)	missense	possibly damaging	0.83
R9744:Vmn2r30	UTSW	7	7,312,285 (GRCm38)	missense	possibly damaging	0.91
V8831:Vmn2r30	UTSW	7	7,334,149 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGGTAGCCTCTAGCAGAAGTC -3'
(R):5'- GGTGTTTGCAATGGATGAAATCAAC -3'

Sequencing Primer
(F):5'- GCCTCTAGCAGAAGTCCTATCATG -3'
(R):5'- GGATGAAATCAACAGAAATCCTGATC -3'

Posted On

2019-05-15