Mutagenetix > Incidental Mutation

Incidental Mutation 'R6090:Or2d2b'

486144

Institutional Source

Beutler Lab

Gene Symbol

Or2d2b

Ensembl Gene

ENSMUSG00000062987

Gene Name

olfactory receptor family 2 subfamily D member 2B

Synonyms

EG384732, Olfr715b, Gm10081

MMRRC Submission

044247-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R6090 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106705119-106706066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106705456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 204 (V204A)

Ref Sequence

ENSEMBL: ENSMUSP00000149136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081044] [ENSMUST00000215713]

AlphaFold

E9Q725

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081044
AA Change: V204A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079834
Gene: ENSMUSG00000062987
AA Change: V204A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	7e-57	PFAM
Pfam:7TM_GPCR_Srsx	35	282	1.8e-7	PFAM
Pfam:7tm_1	41	288	2.5e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215713
AA Change: V204A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,624,972 (GRCm39)	A450V	probably benign	Het
Abca8a	T	C	11: 109,954,048 (GRCm39)		probably null	Het
Adgrl3	A	T	5: 81,660,173 (GRCm39)	N246I	probably damaging	Het
Bmal2	T	A	6: 146,731,194 (GRCm39)	S500T	possibly damaging	Het
Cdipt	A	T	7: 126,576,131 (GRCm39)	M29L	possibly damaging	Het
Chml	G	T	1: 175,514,624 (GRCm39)	Y432*	probably null	Het
Clasp2	G	T	9: 113,681,803 (GRCm39)	V320L	probably benign	Het
Col12a1	G	A	9: 79,599,675 (GRCm39)	T826M	probably damaging	Het
Cpsf3	A	G	12: 21,345,194 (GRCm39)	I169V	probably damaging	Het
Dhx36	G	A	3: 62,404,241 (GRCm39)	T234M	probably damaging	Het
Dhx57	A	G	17: 80,571,375 (GRCm39)		probably null	Het
Dnah1	A	T	14: 30,991,382 (GRCm39)	I3132N	possibly damaging	Het
Fbxw20	G	T	9: 109,052,431 (GRCm39)	Q231K	probably benign	Het
Gfod1	G	T	13: 43,354,437 (GRCm39)	Y179*	probably null	Het
Glg1	T	A	8: 111,907,667 (GRCm39)	I510F	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,494,151 (GRCm39)		probably benign	Het
Gse1	C	A	8: 121,297,908 (GRCm39)		probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Klrd1	T	C	6: 129,572,499 (GRCm39)	L97P	probably damaging	Het
Lgmn	A	T	12: 102,366,413 (GRCm39)	M240K	probably damaging	Het
Lrp1b	A	G	2: 41,075,880 (GRCm39)		probably null	Het
Notch2	A	T	3: 98,042,693 (GRCm39)	R1353*	probably null	Het
Or5t18	A	C	2: 86,636,701 (GRCm39)	V214G	possibly damaging	Het
Pcdhb14	G	A	18: 37,581,659 (GRCm39)	S255N	probably benign	Het
Pcgf2	C	T	11: 97,581,817 (GRCm39)	M25I	possibly damaging	Het
Poll	G	T	19: 45,544,436 (GRCm39)	D328E	probably benign	Het
Pomgnt2	A	T	9: 121,811,863 (GRCm39)	L306Q	probably damaging	Het
Proser1	A	T	3: 53,386,088 (GRCm39)	M657L	probably benign	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Rdh11	G	T	12: 79,235,838 (GRCm39)	P37T	probably benign	Het
Rsph10b	A	T	5: 143,913,946 (GRCm39)	I286L	probably benign	Het
Septin4	G	A	11: 87,480,343 (GRCm39)	R238K	possibly damaging	Het
Sptan1	C	T	2: 29,883,899 (GRCm39)	R580C	probably damaging	Het
Stard9	T	A	2: 120,524,135 (GRCm39)	W777R	probably damaging	Het
Timd2	T	C	11: 46,578,063 (GRCm39)	T23A	probably benign	Het
Tmc4	A	G	7: 3,674,052 (GRCm39)	Y376H	probably damaging	Het
Tmem143	A	G	7: 45,558,950 (GRCm39)	I297M	probably benign	Het
Togaram1	A	G	12: 65,014,575 (GRCm39)	T609A	probably benign	Het
Tyw3	T	C	3: 154,302,704 (GRCm39)	H10R	probably benign	Het
Unc13b	C	A	4: 43,239,306 (GRCm39)	H3456Q	probably damaging	Het
Zfp131	A	T	13: 120,237,532 (GRCm39)	H275Q	probably damaging	Het

Other mutations in Or2d2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Or2d2b	APN	7	106,705,269 (GRCm39)	missense	probably benign	0.00
IGL00981:Or2d2b	APN	7	106,705,268 (GRCm39)	nonsense	probably null
IGL01642:Or2d2b	APN	7	106,706,029 (GRCm39)	missense	possibly damaging	0.55
IGL03174:Or2d2b	APN	7	106,705,477 (GRCm39)	missense	probably benign	0.05
R1724:Or2d2b	UTSW	7	106,705,409 (GRCm39)	missense	probably benign	0.00
R2029:Or2d2b	UTSW	7	106,705,643 (GRCm39)	missense	probably benign
R2860:Or2d2b	UTSW	7	106,705,675 (GRCm39)	missense	probably benign	0.10
R2861:Or2d2b	UTSW	7	106,705,675 (GRCm39)	missense	probably benign	0.10
R2862:Or2d2b	UTSW	7	106,705,675 (GRCm39)	missense	probably benign	0.10
R3807:Or2d2b	UTSW	7	106,705,670 (GRCm39)	missense	probably benign	0.01
R4797:Or2d2b	UTSW	7	106,705,234 (GRCm39)	missense	probably benign	0.26
R5008:Or2d2b	UTSW	7	106,705,288 (GRCm39)	missense	probably damaging	0.99
R5918:Or2d2b	UTSW	7	106,705,828 (GRCm39)	missense	probably damaging	1.00
R6174:Or2d2b	UTSW	7	106,705,714 (GRCm39)	missense	probably damaging	1.00
R6253:Or2d2b	UTSW	7	106,705,145 (GRCm39)	missense	probably benign	0.00
R7408:Or2d2b	UTSW	7	106,705,274 (GRCm39)	missense	probably benign	0.05
R7483:Or2d2b	UTSW	7	106,705,982 (GRCm39)	missense	probably benign	0.00
R7750:Or2d2b	UTSW	7	106,705,740 (GRCm39)	nonsense	probably null
R8260:Or2d2b	UTSW	7	106,706,062 (GRCm39)	missense	probably benign
R8374:Or2d2b	UTSW	7	106,706,033 (GRCm39)	missense	probably damaging	1.00
R8975:Or2d2b	UTSW	7	106,705,664 (GRCm39)	missense	probably benign	0.01
R9431:Or2d2b	UTSW	7	106,705,336 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGACACCAGTTTCTCCTG -3'
(R):5'- TGTGTATCCAGCTGGCTACAG -3'

Sequencing Primer
(F):5'- AGTTTCTCCTGTTCTTTGGAAGAC -3'
(R):5'- ATCCAGCTGGCTACAGTGTCATG -3'

Posted On

2017-08-16