Mutagenetix > Incidental Mutation

Incidental Mutation 'R7678:Or7d11'

592587

Institutional Source

Beutler Lab

Gene Symbol

Or7d11

Ensembl Gene

ENSMUSG00000044454

Gene Name

olfactory receptor family 7 subfamily D member 11

Synonyms

GA_x6K02T2PVTD-13795933-13794938, MOR143-2, Olfr867

MMRRC Submission

045745-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19965762-19966757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19965901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 168 (N168S)

Ref Sequence

ENSEMBL: ENSMUSP00000148667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060780] [ENSMUST00000212098] [ENSMUST00000216538]

AlphaFold

Q7TRF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060780
AA Change: N286S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057469
Gene: ENSMUSG00000044454
AA Change: N286S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.2e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	301	1.6e-6	PFAM
Pfam:7tm_1	41	290	1.1e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212098
AA Change: N168S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216538
AA Change: N286S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	A	5: 8,137,750 (GRCm39)		probably null	Het
Ank1	A	G	8: 23,607,074 (GRCm39)	D1325G	probably damaging	Het
Asxl1	T	C	2: 153,242,572 (GRCm39)	S1042P	probably damaging	Het
Bpifb1	C	T	2: 154,044,649 (GRCm39)	H39Y	possibly damaging	Het
Capn13	C	A	17: 73,622,300 (GRCm39)	M663I	probably damaging	Het
Cemip2	C	A	19: 21,775,480 (GRCm39)	T241K	probably damaging	Het
Clec2g	A	G	6: 128,956,400 (GRCm39)	E72G	probably damaging	Het
Col12a1	T	A	9: 79,558,768 (GRCm39)	Y1899F	probably damaging	Het
Ctbp2	A	G	7: 132,616,353 (GRCm39)	V194A	probably benign	Het
Cttnbp2	G	T	6: 18,382,809 (GRCm39)	L1320I	probably damaging	Het
E2f2	T	A	4: 135,920,137 (GRCm39)	L374*	probably null	Het
Echdc3	C	T	2: 6,217,687 (GRCm39)	G29S	probably benign	Het
Ecm1	A	G	3: 95,643,494 (GRCm39)	S269P	probably damaging	Het
Elmo2	G	A	2: 165,133,664 (GRCm39)	P775S	unknown	Het
Eno3	T	A	11: 70,549,993 (GRCm39)		probably null	Het
Faf1	G	A	4: 109,687,061 (GRCm39)	R267K	probably benign	Het
Fam162a	G	A	16: 35,870,307 (GRCm39)		probably benign	Het
Fam178b	T	A	1: 36,603,532 (GRCm39)	D473V	probably damaging	Het
Fat2	G	A	11: 55,173,156 (GRCm39)	T2519I	probably damaging	Het
Foxc2	A	G	8: 121,844,834 (GRCm39)	Y494C	probably damaging	Het
Gcnt2	C	A	13: 41,107,195 (GRCm39)	Q355K	probably benign	Het
Glg1	G	T	8: 111,905,497 (GRCm39)	H595N	probably benign	Het
Gm9913	A	T	2: 125,348,480 (GRCm39)	H97L	unknown	Het
Hbegf	T	A	18: 36,640,601 (GRCm39)	N152I	possibly damaging	Het
Hipk1	G	A	3: 103,667,866 (GRCm39)	T567I	probably damaging	Het
Idh3a	C	T	9: 54,502,453 (GRCm39)	P78S	probably damaging	Het
Igsf10	A	T	3: 59,226,761 (GRCm39)	M2304K	possibly damaging	Het
Inf2	A	G	12: 112,573,428 (GRCm39)	T723A	unknown	Het
Itpr2	A	T	6: 146,089,048 (GRCm39)	F2220Y	probably benign	Het
Kpnb1	C	T	11: 97,059,999 (GRCm39)	R557Q	probably damaging	Het
Lefty1	A	G	1: 180,764,325 (GRCm39)	D155G	probably damaging	Het
Lrp1	A	G	10: 127,409,922 (GRCm39)	C1554R	probably damaging	Het
Lrrc10	A	G	10: 116,881,662 (GRCm39)	D112G	probably benign	Het
Med12l	A	G	3: 58,984,141 (GRCm39)	E439G	probably damaging	Het
Ms4a7	A	T	19: 11,301,868 (GRCm39)	F185Y	probably benign	Het
Mtmr6	T	A	14: 60,527,101 (GRCm39)	M234K	probably damaging	Het
Myh7b	C	A	2: 155,459,698 (GRCm39)		probably null	Het
Myo1d	T	C	11: 80,567,719 (GRCm39)	M254V	possibly damaging	Het
Nbas	T	C	12: 13,465,662 (GRCm39)	V1368A	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Neb	A	G	2: 52,096,714 (GRCm39)	V4999A	probably damaging	Het
Npbwr1	G	T	1: 5,986,927 (GRCm39)	Q196K	probably benign	Het
Nsd3	A	T	8: 26,149,833 (GRCm39)	E339D	possibly damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or11g1	T	C	14: 50,651,471 (GRCm39)	F157L	probably damaging	Het
Or6c206	A	G	10: 129,096,937 (GRCm39)	S36G	probably damaging	Het
Plxna1	C	T	6: 89,308,882 (GRCm39)	V1199M	probably damaging	Het
Ppfibp2	T	A	7: 107,315,873 (GRCm39)	M285K	probably damaging	Het
Ppip5k1	A	G	2: 121,168,142 (GRCm39)	Y704H	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Sbspon	T	C	1: 15,929,282 (GRCm39)	M170V	probably benign	Het
Scfd2	A	C	5: 74,619,297 (GRCm39)	F440V	probably benign	Het
Slc22a19	T	A	19: 7,688,302 (GRCm39)	D86V	possibly damaging	Het
Smg5	A	G	3: 88,261,202 (GRCm39)	N685S	possibly damaging	Het
Spata46	A	G	1: 170,139,333 (GRCm39)	R111G	possibly damaging	Het
Sry	A	T	Y: 2,663,248 (GRCm39)	D137E	possibly damaging	Het
Tbkbp1	T	C	11: 97,040,309 (GRCm39)	D35G	probably damaging	Het
Tcf20	A	T	15: 82,735,766 (GRCm39)	V1895D	possibly damaging	Het
Tfap4	G	T	16: 4,369,630 (GRCm39)	Q112K	possibly damaging	Het
Trmt10c	T	A	16: 55,855,302 (GRCm39)	D111V	probably benign	Het
Unc80	T	C	1: 66,688,881 (GRCm39)	I2415T	probably benign	Het
Vmn2r107	A	T	17: 20,576,901 (GRCm39)	M300L	probably benign	Het
Vmn2r5	A	T	3: 64,416,943 (GRCm39)	F72I	probably benign	Het
Vmn2r53	T	A	7: 12,332,425 (GRCm39)	H408L	probably benign	Het
Zan	C	T	5: 137,461,802 (GRCm39)	V1126M	unknown	Het
Zfp493	A	T	13: 67,927,814 (GRCm39)		probably benign	Het
Zfp618	C	A	4: 63,004,858 (GRCm39)	A86E	probably benign	Het

Other mutations in Or7d11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02138:Or7d11	APN	9	19,966,196 (GRCm39)	missense	probably benign	0.01
IGL03130:Or7d11	APN	9	19,966,668 (GRCm39)	missense	probably benign	0.34
R1034:Or7d11	UTSW	9	19,966,661 (GRCm39)	missense	probably benign	0.02
R1238:Or7d11	UTSW	9	19,966,757 (GRCm39)	start codon destroyed	probably benign	0.12
R1412:Or7d11	UTSW	9	19,966,711 (GRCm39)	missense	possibly damaging	0.65
R1625:Or7d11	UTSW	9	19,966,678 (GRCm39)	missense	probably damaging	1.00
R1689:Or7d11	UTSW	9	19,966,422 (GRCm39)	missense	possibly damaging	0.94
R2060:Or7d11	UTSW	9	19,965,892 (GRCm39)	missense	probably damaging	1.00
R2204:Or7d11	UTSW	9	19,966,507 (GRCm39)	missense	possibly damaging	0.74
R2350:Or7d11	UTSW	9	19,966,384 (GRCm39)	missense	probably damaging	1.00
R3901:Or7d11	UTSW	9	19,966,169 (GRCm39)	missense	probably benign	0.00
R5637:Or7d11	UTSW	9	19,966,279 (GRCm39)	missense	possibly damaging	0.80
R6084:Or7d11	UTSW	9	19,966,179 (GRCm39)	missense	possibly damaging	0.71
R6150:Or7d11	UTSW	9	19,966,170 (GRCm39)	missense	probably benign	0.22
R6602:Or7d11	UTSW	9	19,966,342 (GRCm39)	missense	probably benign	0.01
R6902:Or7d11	UTSW	9	19,966,670 (GRCm39)	missense	possibly damaging	0.47
R6946:Or7d11	UTSW	9	19,966,670 (GRCm39)	missense	possibly damaging	0.47
R7085:Or7d11	UTSW	9	19,966,232 (GRCm39)	missense	probably benign	0.37
R8034:Or7d11	UTSW	9	19,966,301 (GRCm39)	missense	probably benign	0.01
R9194:Or7d11	UTSW	9	19,966,543 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTTTGAACACACGAGCC -3'
(R):5'- TCCTCTACTGTGAGTAAGTACAAAG -3'

Sequencing Primer
(F):5'- CTTTGAACACACGAGCCATAATTTC -3'
(R):5'- AAGTACAAAGCTTTTTCCACCTGCG -3'

Posted On

2019-11-12