Mutagenetix > Incidental Mutation

Incidental Mutation 'R4451:Vmn1r14'

328965

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r14

Ensembl Gene

ENSMUSG00000114982

Gene Name

vomeronasal 1 receptor 14

Synonyms

V1rc7

MMRRC Submission

041712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R4451 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57203140-57211335 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 57211213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 220 (Y220D)

Ref Sequence

ENSEMBL: ENSMUSP00000153807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000176376] [ENSMUST00000177435] [ENSMUST00000227209] [ENSMUST00000227574] [ENSMUST00000227768] [ENSMUST00000227884]

AlphaFold

H3BJ46

Predicted Effect

probably benign
Transcript: ENSMUST00000176376
AA Change: Y264D

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134841
Gene: ENSMUSG00000093692
AA Change: Y264D

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
Pfam:V1R	35	303	2e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177435
AA Change: Y264D

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135207
Gene: ENSMUSG00000114982
AA Change: Y264D

Domain	Start	End	E-Value	Type
Pfam:V1R	28	293	3.9e-57	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227209
AA Change: Y220D

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227574
AA Change: Y220D

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000227768
AA Change: Y264D

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000227884
AA Change: Y264D

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	A	C	5: 62,906,513 (GRCm39)	F169V	probably benign	Het
Baiap2l1	T	A	5: 144,215,362 (GRCm39)	Y381F	probably damaging	Het
Cdc27	A	T	11: 104,408,221 (GRCm39)	M563K	probably benign	Het
Cela3b	G	A	4: 137,148,355 (GRCm39)		probably benign	Het
Cyp2c29	A	T	19: 39,279,270 (GRCm39)	D50V	probably damaging	Het
Dbpht2	A	T	12: 74,345,806 (GRCm39)		noncoding transcript	Het
Dnah9	T	A	11: 65,772,467 (GRCm39)	Q3755L	probably benign	Het
Dnajc2	T	C	5: 21,962,792 (GRCm39)	T588A	possibly damaging	Het
Dync2h1	T	A	9: 6,983,477 (GRCm39)	R4022S	probably benign	Het
Gm20481	T	G	17: 35,191,109 (GRCm39)		probably benign	Het
Gm7347	A	G	5: 26,260,004 (GRCm39)	I182T	possibly damaging	Het
Gns	G	A	10: 121,212,601 (GRCm39)	G188S	probably damaging	Het
Grm5	T	G	7: 87,724,340 (GRCm39)		probably null	Het
Gstm4	T	C	3: 107,951,291 (GRCm39)		probably null	Het
Il7r	T	A	15: 9,513,034 (GRCm39)	K158N	probably benign	Het
Irs1	T	C	1: 82,266,749 (GRCm39)	Y489C	probably benign	Het
Kcns1	C	T	2: 164,010,598 (GRCm39)	E54K	possibly damaging	Het
Klra5	T	A	6: 129,885,797 (GRCm39)	R31*	probably null	Het
Krt13	T	C	11: 100,008,827 (GRCm39)	T409A	unknown	Het
Lce1e	C	T	3: 92,614,967 (GRCm39)	G127S	unknown	Het
Mfsd14a	T	C	3: 116,456,127 (GRCm39)	M1V	probably null	Het
Micall2	T	C	5: 139,692,852 (GRCm39)	E891G	probably damaging	Het
Mpeg1	A	T	19: 12,440,596 (GRCm39)	K685*	probably null	Het
Nbea	A	G	3: 55,899,753 (GRCm39)		probably null	Het
Nup155	A	G	15: 8,180,366 (GRCm39)	M1148V	probably benign	Het
Or51aa5	A	G	7: 103,167,184 (GRCm39)	S136P	probably damaging	Het
Or5m3b	T	C	2: 85,872,303 (GRCm39)	S215P	probably damaging	Het
Otof	T	A	5: 30,542,508 (GRCm39)	D695V	possibly damaging	Het
Ptf1a	G	T	2: 19,451,092 (GRCm39)	A141S	possibly damaging	Het
Pxmp2	A	T	5: 110,425,531 (GRCm39)	V168E	probably damaging	Het
Rab11fip1	T	C	8: 27,644,505 (GRCm39)	K427E	probably damaging	Het
Susd2	A	G	10: 75,475,232 (GRCm39)	V526A	probably damaging	Het
Tbx2	T	C	11: 85,731,643 (GRCm39)	S647P	probably damaging	Het
Tg	A	G	15: 66,637,996 (GRCm39)	T651A	probably benign	Het
Trim68	T	A	7: 102,333,680 (GRCm39)	M1L	probably damaging	Het
Ttn	A	C	2: 76,584,250 (GRCm39)	L20540*	probably null	Het
Usf3	A	T	16: 44,038,251 (GRCm39)	K910N	possibly damaging	Het
Vmn1r209	T	A	13: 22,990,668 (GRCm39)	K7N	probably benign	Het

Other mutations in Vmn1r14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1083:Vmn1r14	UTSW	6	57,211,184 (GRCm39)	missense	probably damaging	1.00
R1533:Vmn1r14	UTSW	6	57,211,286 (GRCm39)	missense	probably damaging	1.00
R1759:Vmn1r14	UTSW	6	57,211,297 (GRCm39)	missense	probably benign	0.00
R3945:Vmn1r14	UTSW	6	57,211,254 (GRCm39)	missense	probably benign	0.13
R4034:Vmn1r14	UTSW	6	57,211,310 (GRCm39)	missense	possibly damaging	0.63
R4273:Vmn1r14	UTSW	6	57,211,133 (GRCm39)	missense	probably damaging	1.00
R4342:Vmn1r14	UTSW	6	57,210,808 (GRCm39)	missense	probably benign	0.09
R5978:Vmn1r14	UTSW	6	57,210,929 (GRCm39)	missense	probably benign	0.06
R6378:Vmn1r14	UTSW	6	57,210,587 (GRCm39)	missense	probably benign	0.09
R6829:Vmn1r14	UTSW	6	57,210,536 (GRCm39)	missense	probably benign	0.06
R7153:Vmn1r14	UTSW	6	57,210,851 (GRCm39)	missense	probably benign	0.10
R8015:Vmn1r14	UTSW	6	57,211,015 (GRCm39)	missense	probably damaging	0.96
R8105:Vmn1r14	UTSW	6	57,211,245 (GRCm39)	missense	probably benign	0.00
R8830:Vmn1r14	UTSW	6	57,211,017 (GRCm39)	missense	probably damaging	0.98
R8831:Vmn1r14	UTSW	6	57,210,505 (GRCm39)	missense	probably benign	0.05
Z1177:Vmn1r14	UTSW	6	57,211,126 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATTATCTTGTGTAGACATCAGAGGC -3'
(R):5'- TGAGCACCAGGAATACAGCTATG -3'

Sequencing Primer
(F):5'- GGCAATGCAAGCATCTTCATAG -3'
(R):5'- GCACCAGGAATACAGCTATGCATAG -3'

Posted On

2015-07-21