Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01452:Vmn2r4'

84659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r4

Ensembl Gene

ENSMUSG00000092049

Gene Name

vomeronasal 2, receptor 4

Synonyms

EG637053

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL01452

Quality Score

Status

Chromosome

Chromosomal Location

64388621-64415296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64406395 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 388 (N388K)

Ref Sequence

ENSEMBL: ENSMUSP00000135228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170280] [ENSMUST00000175724]

AlphaFold

K7N784

Predicted Effect

probably damaging
Transcript: ENSMUST00000170280
AA Change: N299K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: N299K

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	416	2.7e-72	PFAM
Pfam:Peripla_BP_6	61	240	1.9e-9	PFAM
Pfam:NCD3G	458	511	1.1e-17	PFAM
Pfam:7tm_3	542	779	1.8e-75	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000175724
AA Change: N388K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: N388K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	88	505	2.3e-75	PFAM
Pfam:NCD3G	547	600	4.7e-17	PFAM
Pfam:7tm_3	633	867	8.2e-47	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,996,308		probably benign	Het
AI314180	A	G	4: 58,836,181	S720P	probably damaging	Het
Carmil3	A	G	14: 55,496,058	N344D	probably damaging	Het
Cd300ld2	G	A	11: 115,012,602		probably benign	Het
Ddx19b	A	G	8: 111,020,988	S105P	probably damaging	Het
Dpf3	C	A	12: 83,269,489	R336L	probably benign	Het
Foxj3	T	C	4: 119,621,628	L427P	unknown	Het
Hdac11	A	G	6: 91,167,861	D157G	probably damaging	Het
Klk13	G	T	7: 43,726,636	R245L	possibly damaging	Het
Med25	C	T	7: 44,882,831	M367I	possibly damaging	Het
Mindy3	G	A	2: 12,355,272		probably benign	Het
Mtf2	C	T	5: 108,080,943	P42S	probably damaging	Het
Muc5ac	A	T	7: 141,817,555	L3269F	probably benign	Het
Olfr344	T	A	2: 36,568,742	L48H	probably damaging	Het
Pcnx2	A	G	8: 125,838,032	S1041P	probably damaging	Het
Pcnx4	G	T	12: 72,574,400	G998V	possibly damaging	Het
Ptprk	G	A	10: 28,574,917		probably null	Het
Scn9a	A	G	2: 66,527,072	F951L	probably damaging	Het
Sept11	A	C	5: 93,161,204	K248Q	possibly damaging	Het
Src	T	A	2: 157,462,983	Y151N	probably damaging	Het
Tbc1d32	A	T	10: 56,215,080	M119K	possibly damaging	Het
Tiparp	G	T	3: 65,552,609	G442*	probably null	Het
Ttn	A	G	2: 76,826,131		probably benign	Het

Other mutations in Vmn2r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Vmn2r4	APN	3	64409779	splice site	probably null
IGL01448:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01454:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01456:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01463:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01467:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01468:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01470:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01476:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01481:Vmn2r4	APN	3	64406395	missense	probably damaging	0.99
IGL01534:Vmn2r4	APN	3	64406423	missense	probably damaging	1.00
IGL01636:Vmn2r4	APN	3	64406236	missense	probably benign	0.21
IGL01879:Vmn2r4	APN	3	64391010	missense	probably damaging	1.00
IGL02147:Vmn2r4	APN	3	64398361	splice site	probably benign
IGL02276:Vmn2r4	APN	3	64406456	missense	possibly damaging	0.95
IGL02432:Vmn2r4	APN	3	64406400	missense	probably benign	0.38
IGL02533:Vmn2r4	APN	3	64398419	nonsense	probably null
IGL02655:Vmn2r4	APN	3	64398465	missense	probably damaging	0.97
IGL02666:Vmn2r4	APN	3	64389012	missense	probably benign	0.10
IGL02902:Vmn2r4	APN	3	64406916	missense	probably benign	0.22
IGL03189:Vmn2r4	APN	3	64389168	missense	possibly damaging	0.89
IGL03250:Vmn2r4	APN	3	64406642	missense	probably damaging	1.00
IGL03271:Vmn2r4	APN	3	64398429	missense	probably benign	0.01
R0310:Vmn2r4	UTSW	3	64389434	nonsense	probably null
R0504:Vmn2r4	UTSW	3	64389363	missense	probably damaging	1.00
R1546:Vmn2r4	UTSW	3	64406888	missense	probably damaging	1.00
R1562:Vmn2r4	UTSW	3	64389444	missense	probably damaging	0.98
R1863:Vmn2r4	UTSW	3	64406989	missense	probably benign	0.33
R1873:Vmn2r4	UTSW	3	64391058	missense	possibly damaging	0.93
R1939:Vmn2r4	UTSW	3	64398555	missense	probably benign	0.00
R2103:Vmn2r4	UTSW	3	64415283	missense	possibly damaging	0.48
R3083:Vmn2r4	UTSW	3	64389367	missense	probably damaging	1.00
R3687:Vmn2r4	UTSW	3	64389475	missense	possibly damaging	0.93
R3707:Vmn2r4	UTSW	3	64389474	missense	probably damaging	0.99
R3963:Vmn2r4	UTSW	3	64415151	missense	probably damaging	0.99
R4428:Vmn2r4	UTSW	3	64415169	missense	probably damaging	1.00
R4710:Vmn2r4	UTSW	3	64409780	critical splice donor site	probably null
R4737:Vmn2r4	UTSW	3	64409963	missense	probably damaging	1.00
R4767:Vmn2r4	UTSW	3	64390976	missense	probably damaging	0.99
R4776:Vmn2r4	UTSW	3	64388661	missense	probably damaging	0.96
R4834:Vmn2r4	UTSW	3	64410063	missense	probably benign	0.40
R4893:Vmn2r4	UTSW	3	64406255	missense	probably damaging	0.96
R4908:Vmn2r4	UTSW	3	64389055	missense	possibly damaging	0.59
R5049:Vmn2r4	UTSW	3	64398598	splice site	probably null
R5092:Vmn2r4	UTSW	3	64390952	missense	probably benign	0.01
R5234:Vmn2r4	UTSW	3	64398457	missense	possibly damaging	0.88
R5240:Vmn2r4	UTSW	3	64406937	missense	possibly damaging	0.53
R5704:Vmn2r4	UTSW	3	64409949	missense	probably benign	0.03
R5897:Vmn2r4	UTSW	3	64415266	nonsense	probably null
R5907:Vmn2r4	UTSW	3	64391066	missense	probably damaging	0.99
R5924:Vmn2r4	UTSW	3	64389264	missense	probably damaging	1.00
R6145:Vmn2r4	UTSW	3	64406943	missense	probably benign	0.00
R6191:Vmn2r4	UTSW	3	64415281	missense	probably benign	0.34
R6192:Vmn2r4	UTSW	3	64415278	missense	probably benign	0.00
R6207:Vmn2r4	UTSW	3	64406505	missense	probably damaging	1.00
R6457:Vmn2r4	UTSW	3	64409957	missense	probably damaging	1.00
R6533:Vmn2r4	UTSW	3	64415098	missense	probably benign
R6545:Vmn2r4	UTSW	3	64406356	missense	possibly damaging	0.50
R6594:Vmn2r4	UTSW	3	64389310	missense	probably damaging	1.00
R7049:Vmn2r4	UTSW	3	64389129	missense	probably benign	0.14
R7150:Vmn2r4	UTSW	3	64398477	missense	probably benign	0.01
R7187:Vmn2r4	UTSW	3	64415260	missense	probably benign	0.00
R7363:Vmn2r4	UTSW	3	64407011	missense	probably damaging	1.00
R7477:Vmn2r4	UTSW	3	64398429	missense	probably benign	0.01
R7675:Vmn2r4	UTSW	3	64415236	missense	probably benign	0.01
R7858:Vmn2r4	UTSW	3	64409805	missense	probably benign	0.00
R7888:Vmn2r4	UTSW	3	64406522	missense	probably damaging	0.99
R8678:Vmn2r4	UTSW	3	64406970	missense	probably benign
R8743:Vmn2r4	UTSW	3	64409826	missense	possibly damaging	0.95
R8841:Vmn2r4	UTSW	3	64406637	missense	probably damaging	0.97
R9671:Vmn2r4	UTSW	3	64409850	missense	probably benign	0.00
R9778:Vmn2r4	UTSW	3	64415076	missense	probably benign	0.15
X0019:Vmn2r4	UTSW	3	64406636	missense	probably damaging	0.99

Posted On

2013-11-11