Mutagenetix > Incidental Mutation

Incidental Mutation 'R6902:Or7d11'

538601

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

045032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R6902 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19965762-19966757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19966670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 30 (L30M)

Ref Sequence

ENSEMBL: ENSMUSP00000150378 (fasta)

Gene Model

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

AlphaFold

Q7TRF3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060780
AA Change: L30M

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000057469
Gene: ENSMUSG00000044454
AA Change: L30M

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 benign
Transcript: ENSMUST00000212098

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216538
AA Change: L30M

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

98% (50/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	G	13: 119,624,680 (GRCm39)		probably benign	Het
Abcc9	T	A	6: 142,624,953 (GRCm39)	S481C	probably damaging	Het
Adgrl3	C	A	5: 81,837,434 (GRCm39)	S773R	probably damaging	Het
Alkbh5	G	A	11: 60,429,381 (GRCm39)	A45T	probably benign	Het
Ankrd6	C	A	4: 32,806,419 (GRCm39)	Q576H	probably damaging	Het
Ankrd6	T	A	4: 32,806,420 (GRCm39)	Q576L	probably damaging	Het
Carmil1	T	C	13: 24,299,528 (GRCm39)	N332S	possibly damaging	Het
Cc2d2b	A	G	19: 40,804,733 (GRCm39)	Q1250R	possibly damaging	Het
Chd9	A	C	8: 91,769,579 (GRCm39)	N2539T	probably damaging	Het
Clec4b2	C	T	6: 123,177,987 (GRCm39)	Q101*	probably null	Het
Clstn2	A	T	9: 97,351,875 (GRCm39)	F517I	probably damaging	Het
Cog2	A	G	8: 125,273,430 (GRCm39)	K590E	probably damaging	Het
Coq9	G	A	8: 95,577,180 (GRCm39)	E182K	probably benign	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Focad	C	T	4: 88,148,713 (GRCm39)	R477C	unknown	Het
Gja10	G	T	4: 32,601,905 (GRCm39)	H160N	probably damaging	Het
Gpr132	T	A	12: 112,815,830 (GRCm39)	Y332F	probably benign	Het
Herc2	A	G	7: 55,785,234 (GRCm39)	T1495A	probably benign	Het
Hivep3	T	A	4: 119,953,192 (GRCm39)	S503T	possibly damaging	Het
Ifi44	A	T	3: 151,451,536 (GRCm39)	I190N	possibly damaging	Het
Igf1r	T	A	7: 67,653,911 (GRCm39)	C150S	probably damaging	Het
Ighv1-42	T	A	12: 114,901,155 (GRCm39)	N4Y	possibly damaging	Het
Klra9	T	A	6: 130,156,003 (GRCm39)	I251F	probably benign	Het
Krt79	T	C	15: 101,840,314 (GRCm39)	N294S	probably benign	Het
Lama2	T	G	10: 26,857,625 (GRCm39)	T3075P	probably damaging	Het
Lrfn1	T	G	7: 28,159,238 (GRCm39)	C386G	probably benign	Het
Lrp2	T	C	2: 69,289,847 (GRCm39)	D3664G	probably damaging	Het
Mfsd3	T	A	15: 76,587,349 (GRCm39)	M344K	probably damaging	Het
Mier2	C	A	10: 79,376,673 (GRCm39)		probably benign	Het
Mmp2	G	A	8: 93,563,545 (GRCm39)	V340M	probably damaging	Het
Mrgprb3	T	A	7: 48,293,447 (GRCm39)	I35F	probably benign	Het
Myo5b	A	T	18: 74,809,756 (GRCm39)	I613F	possibly damaging	Het
Nicol1	G	A	5: 34,140,923 (GRCm39)		probably benign	Het
Or14c43	T	A	7: 86,114,995 (GRCm39)	C125*	probably null	Het
Or51f1e	A	T	7: 102,747,562 (GRCm39)	I205F	probably benign	Het
Or8g30	C	A	9: 39,230,315 (GRCm39)	L198F	probably damaging	Het
Pan2	A	G	10: 128,151,506 (GRCm39)	T867A	probably benign	Het
Papolb	T	A	5: 142,513,906 (GRCm39)	H579L	probably benign	Het
Pcf11	C	A	7: 92,307,507 (GRCm39)	G887V	probably damaging	Het
Pdzd8	A	G	19: 59,289,829 (GRCm39)	S524P	possibly damaging	Het
Pole3	T	C	4: 62,442,300 (GRCm39)		probably benign	Het
Prdm14	C	T	1: 13,192,645 (GRCm39)	V365I	probably benign	Het
Shank1	T	A	7: 44,006,239 (GRCm39)	F1985L	probably benign	Het
Slc13a1	T	C	6: 24,097,665 (GRCm39)	I421V	possibly damaging	Het
Slc2a6	C	T	2: 26,913,172 (GRCm39)	V374M	probably benign	Het
Spata1	A	T	3: 146,181,078 (GRCm39)	N293K	possibly damaging	Het
Stk40	T	A	4: 126,031,605 (GRCm39)	D366E	probably benign	Het
Tas2r117	T	C	6: 132,780,288 (GRCm39)	L142S	probably damaging	Het
Tomm70a	T	C	16: 56,958,444 (GRCm39)	S266P	probably damaging	Het
Trgv1	T	C	13: 19,524,190 (GRCm39)	L2P	probably benign	Het
Vipr2	A	T	12: 116,102,819 (GRCm39)	T310S	possibly damaging	Het
Vti1a	A	T	19: 55,487,673 (GRCm39)		probably null	Het
Zfp961	A	G	8: 72,722,522 (GRCm39)	K345R	probably damaging	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
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
R7678:Or7d11	UTSW	9	19,965,901 (GRCm39)	missense	probably damaging	1.00
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'- TGACTGCATGTTCACTAGCATCTTTG -3'
(R):5'- CTACACACATTTAAGAATGGTCAGG -3'

Sequencing Primer
(F):5'- CACTAGCATCTTTGGTATTGTCG -3'
(R):5'- GGGTAAATGAGTGGTAATCATTGTC -3'

Posted On

2018-11-06