Mutagenetix > Incidental Mutation

Incidental Mutation 'R2422:Or10d5'

249379

Institutional Source

Beutler Lab

Gene Symbol

Or10d5

Ensembl Gene

ENSMUSG00000043331

Gene Name

olfactory receptor family 10 subfamily D member 5

Synonyms

MOR224-2, GA_x6K02T2PVTD-33651220-33650288, Olfr975

MMRRC Submission

040384-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39861133-39862065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39861824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 81 (L81P)

Ref Sequence

ENSEMBL: ENSMUSP00000150664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054067] [ENSMUST00000169307] [ENSMUST00000213171] [ENSMUST00000216647] [ENSMUST00000217630]

AlphaFold

Q8VG91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054067
AA Change: L81P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059776
Gene: ENSMUSG00000043331
AA Change: L81P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	1.9e-51	PFAM
Pfam:7TM_GPCR_Srsx	33	249	1.8e-7	PFAM
Pfam:7tm_1	39	286	3.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169307

SMART Domains

Protein: ENSMUSP00000133083
Gene: ENSMUSG00000047352

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	318	1.5e-48	PFAM
Pfam:7TM_GPCR_Srsx	47	271	1.1e-5	PFAM
Pfam:7tm_1	53	300	2.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213171

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216647
AA Change: L81P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000217630

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,421,864 (GRCm39)	N47I	probably benign	Het
Actr5	T	C	2: 158,478,001 (GRCm39)	F457S	probably damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Adck2	C	T	6: 39,560,932 (GRCm39)	A440V	possibly damaging	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Ccdc121rt3	A	T	5: 112,502,984 (GRCm39)	V240D	probably damaging	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,316,120 (GRCm39)	C186R	probably benign	Het
Cdk12	T	G	11: 98,109,900 (GRCm39)	S640R	probably benign	Het
Cdv3	T	C	9: 103,242,317 (GRCm39)		probably benign	Het
Celf2	G	A	2: 6,558,700 (GRCm39)	T364I	probably damaging	Het
Cmtr2	C	A	8: 110,949,413 (GRCm39)	S574R	probably benign	Het
Col14a1	T	C	15: 55,313,318 (GRCm39)	L56P	unknown	Het
Cracdl	C	A	1: 37,652,556 (GRCm39)	V1084L	probably benign	Het
Dctn1	C	T	6: 83,176,782 (GRCm39)	L1241F	possibly damaging	Het
Depdc5	T	C	5: 33,148,379 (GRCm39)	F1505S	probably damaging	Het
Dhcr24	G	T	4: 106,418,291 (GRCm39)		probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Entpd7	A	T	19: 43,716,527 (GRCm39)	Y507F	possibly damaging	Het
Fbp1	T	C	13: 63,019,120 (GRCm39)	K24E	probably benign	Het
Galr1	A	T	18: 82,424,048 (GRCm39)	N76K	probably damaging	Het
Glrb	A	G	3: 80,767,542 (GRCm39)	I226T	probably damaging	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm4950	T	A	18: 51,998,856 (GRCm39)	Q33L	probably benign	Het
Gnat2	A	T	3: 108,002,855 (GRCm39)	M88L	probably damaging	Het
Gpr183	A	G	14: 122,191,589 (GRCm39)	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Hipk3	C	T	2: 104,301,830 (GRCm39)	G121R	probably benign	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Homez	C	A	14: 55,095,031 (GRCm39)	V226F	probably benign	Het
Inf2	C	A	12: 112,577,258 (GRCm39)	A1034D	unknown	Het
Kcnc4	G	T	3: 107,352,863 (GRCm39)	P572T	probably benign	Het
Kmt2d	T	C	15: 98,760,147 (GRCm39)	E1037G	unknown	Het
Krt78	T	C	15: 101,855,699 (GRCm39)	E704G	probably damaging	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,852 (GRCm39)	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Mettl22	T	C	16: 8,305,225 (GRCm39)	F293L	probably damaging	Het
Mib1	T	C	18: 10,751,906 (GRCm39)	S263P	probably damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Nek1	T	C	8: 61,472,935 (GRCm39)	V152A	probably damaging	Het
Nlrp4d	T	A	7: 10,096,872 (GRCm39)	D876V	probably benign	Het
Or11g7	T	C	14: 50,690,893 (GRCm39)	L128P	probably damaging	Het
Or5an11	A	T	19: 12,246,283 (GRCm39)	T230S	probably damaging	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Pcdha11	G	T	18: 37,140,325 (GRCm39)	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Plxnb1	G	A	9: 108,937,506 (GRCm39)	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,008,912 (GRCm39)		probably benign	Het
Pum2	A	T	12: 8,798,931 (GRCm39)	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,112,792 (GRCm39)	E67G	probably damaging	Het
Rgs9	C	A	11: 109,116,603 (GRCm39)		probably null	Het
Semp2l1	C	T	1: 32,584,942 (GRCm39)	A323T	possibly damaging	Het
Sipa1	A	T	19: 5,702,140 (GRCm39)	D923E	possibly damaging	Het
Smc1a	A	G	X: 150,830,971 (GRCm39)		probably benign	Het
Snx33	C	A	9: 56,825,822 (GRCm39)	M546I	probably benign	Het
Spag17	T	A	3: 99,934,935 (GRCm39)	W714R	probably benign	Het
Spata2	C	T	2: 167,326,126 (GRCm39)	R231Q	probably damaging	Het
Stard9	C	T	2: 120,530,765 (GRCm39)	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,832,557 (GRCm39)	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,600,349 (GRCm39)	E110G	probably damaging	Het
Tmem102	T	A	11: 69,695,363 (GRCm39)	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Tyw5	A	G	1: 57,435,907 (GRCm39)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Wdr77	A	T	3: 105,867,337 (GRCm39)	K62*	probably null	Het
Zfhx4	C	A	3: 5,455,465 (GRCm39)	A1153E	probably benign	Het
Zfp266	C	A	9: 20,410,558 (GRCm39)	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,943,421 (GRCm39)		probably benign	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,963,143 (GRCm39)	T141I	probably benign	Het

Other mutations in Or10d5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01480:Or10d5	APN	9	39,861,284 (GRCm39)	missense	probably benign	0.01
IGL01537:Or10d5	APN	9	39,861,921 (GRCm39)	missense	probably benign	0.00
IGL01963:Or10d5	APN	9	39,861,536 (GRCm39)	missense	probably damaging	1.00
IGL02400:Or10d5	APN	9	39,861,635 (GRCm39)	missense	probably benign
IGL03115:Or10d5	APN	9	39,862,040 (GRCm39)	missense	probably damaging	0.98
IGL03226:Or10d5	APN	9	39,861,719 (GRCm39)	splice site	probably null
R0088:Or10d5	UTSW	9	39,861,671 (GRCm39)	missense	probably benign	0.03
R0212:Or10d5	UTSW	9	39,861,236 (GRCm39)	missense	probably benign	0.44
R1668:Or10d5	UTSW	9	39,861,465 (GRCm39)	missense	possibly damaging	0.94
R1878:Or10d5	UTSW	9	39,862,053 (GRCm39)	missense	probably benign	0.35
R2225:Or10d5	UTSW	9	39,861,833 (GRCm39)	missense	possibly damaging	0.84
R2291:Or10d5	UTSW	9	39,861,630 (GRCm39)	missense	probably benign	0.19
R2420:Or10d5	UTSW	9	39,861,824 (GRCm39)	missense	possibly damaging	0.47
R2421:Or10d5	UTSW	9	39,861,824 (GRCm39)	missense	possibly damaging	0.47
R2425:Or10d5	UTSW	9	39,861,137 (GRCm39)	missense	probably null	0.25
R2918:Or10d5	UTSW	9	39,861,660 (GRCm39)	missense	probably benign
R4536:Or10d5	UTSW	9	39,861,731 (GRCm39)	missense	probably damaging	1.00
R4709:Or10d5	UTSW	9	39,861,165 (GRCm39)	missense	probably damaging	0.97
R4831:Or10d5	UTSW	9	39,861,408 (GRCm39)	missense	probably benign	0.01
R4921:Or10d5	UTSW	9	39,861,521 (GRCm39)	missense	probably damaging	0.98
R5113:Or10d5	UTSW	9	39,861,221 (GRCm39)	missense	probably damaging	0.99
R5141:Or10d5	UTSW	9	39,861,170 (GRCm39)	missense	probably benign	0.07
R5195:Or10d5	UTSW	9	39,861,975 (GRCm39)	missense	probably benign
R5213:Or10d5	UTSW	9	39,861,389 (GRCm39)	missense	probably damaging	0.99
R5568:Or10d5	UTSW	9	39,861,983 (GRCm39)	missense	probably benign	0.05
R6993:Or10d5	UTSW	9	39,861,933 (GRCm39)	missense	probably benign
R7080:Or10d5	UTSW	9	39,861,444 (GRCm39)	missense	probably damaging	1.00
R7436:Or10d5	UTSW	9	39,861,349 (GRCm39)	nonsense	probably null
R8178:Or10d5	UTSW	9	39,861,708 (GRCm39)	missense	probably benign	0.05
R8179:Or10d5	UTSW	9	39,861,708 (GRCm39)	missense	probably benign	0.05
R8382:Or10d5	UTSW	9	39,861,455 (GRCm39)	missense	probably benign	0.21
R8402:Or10d5	UTSW	9	39,861,713 (GRCm39)	missense	probably benign	0.39
R8511:Or10d5	UTSW	9	39,861,455 (GRCm39)	missense	probably benign	0.21
R8798:Or10d5	UTSW	9	39,862,013 (GRCm39)	missense	probably benign	0.40
R9068:Or10d5	UTSW	9	39,862,087 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTGAGGACAGATGCGTGC -3'
(R):5'- CTGGAAAGGATGCTCTTTGTCCTC -3'

Sequencing Primer
(F):5'- AGATGCGTGCAGACAGCTC -3'
(R):5'- AAAGGATGCTCTTTGTCCTCTTTTTG -3'

Posted On

2014-11-12