Mutagenetix > Incidental Mutation

Incidental Mutation 'R8968:Or2n1d'

682897

Institutional Source

Beutler Lab

Gene Symbol

Or2n1d

Ensembl Gene

ENSMUSG00000096840

Gene Name

olfactory receptor family 2 subfamily N member 1D

Synonyms

Olfr136, MOR256-7, GA_x6K02T2PSCP-2779375-2780313

MMRRC Submission

068802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R8968 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38646050-38646988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38646320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 91 (T91S)

Ref Sequence

ENSEMBL: ENSMUSP00000146828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077203] [ENSMUST00000208525] [ENSMUST00000208539] [ENSMUST00000214035] [ENSMUST00000216963]

AlphaFold

Q8VG72

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077203
AA Change: T91S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076443
Gene: ENSMUSG00000096840
AA Change: T91S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.6e-48	PFAM
Pfam:7tm_1	41	290	7.1e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208525
AA Change: T91S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208539
AA Change: T91S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214035
AA Change: T91S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216963
AA Change: T91S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,480,429 (GRCm39)	L1153*	probably null	Het
Adamts2	T	C	11: 50,683,550 (GRCm39)	I944T	possibly damaging	Het
Aqp9	A	T	9: 71,045,485 (GRCm39)	C67*	probably null	Het
Armt1	G	T	10: 4,404,150 (GRCm39)	G412W	probably damaging	Het
B4galt1	T	C	4: 40,807,243 (GRCm39)	D381G	probably benign	Het
Bmp5	A	T	9: 75,780,579 (GRCm39)	H292L	probably benign	Het
Brpf1	T	C	6: 113,299,510 (GRCm39)	F1181S	probably damaging	Het
Btbd7	C	A	12: 102,779,025 (GRCm39)	G414C	probably damaging	Het
Ccdc65	A	T	15: 98,616,723 (GRCm39)	K204*	probably null	Het
Cdk5	T	A	5: 24,627,379 (GRCm39)	K88M	probably damaging	Het
Cdrt4	T	A	11: 62,883,634 (GRCm39)	L112Q	probably damaging	Het
Cenpb	T	C	2: 131,020,547 (GRCm39)	E417G	unknown	Het
Cep135	T	C	5: 76,754,576 (GRCm39)	I351T	possibly damaging	Het
Ces1d	A	T	8: 93,914,383 (GRCm39)	S226R	probably damaging	Het
Cfap97	T	A	8: 46,623,114 (GRCm39)	V168E	possibly damaging	Het
CN725425	T	C	15: 91,130,090 (GRCm39)	C318R	possibly damaging	Het
Cnga3	T	A	1: 37,300,460 (GRCm39)	D393E	probably benign	Het
Cplane1	A	T	15: 8,230,765 (GRCm39)	H1014L	possibly damaging	Het
Cpsf1	G	A	15: 76,486,169 (GRCm39)	R358*	probably null	Het
Cyp2b23	G	A	7: 26,378,963 (GRCm39)	P167L	probably damaging	Het
Cyp2c70	A	T	19: 40,142,059 (GRCm39)	H477Q	probably benign	Het
D930020B18Rik	A	C	10: 121,490,721 (GRCm39)	Y107S	probably damaging	Het
Dhrs1	A	T	14: 55,978,192 (GRCm39)	F216I	probably benign	Het
Dmgdh	A	T	13: 93,845,767 (GRCm39)	K474*	probably null	Het
Dsp	T	C	13: 38,335,596 (GRCm39)	I11T	possibly damaging	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fmnl1	AGGCTCTGG	AGG	11: 103,077,444 (GRCm39)		probably benign	Het
Grid2	A	C	6: 64,643,139 (GRCm39)	H967P	probably benign	Het
Hc	A	G	2: 34,922,317 (GRCm39)	I503T	possibly damaging	Het
Herc3	T	C	6: 58,867,183 (GRCm39)	L824S	probably damaging	Het
Hfm1	T	C	5: 107,065,439 (GRCm39)	D80G	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hspa1l	A	G	17: 35,196,230 (GRCm39)	K90E	possibly damaging	Het
Impa2	G	A	18: 67,451,497 (GRCm39)	V264I	probably benign	Het
Ipmk	C	T	10: 71,199,333 (GRCm39)	R65W	probably damaging	Het
Klhl38	C	T	15: 58,185,500 (GRCm39)	V410I	probably benign	Het
Lcn4	A	G	2: 26,558,360 (GRCm39)	I175T	possibly damaging	Het
Lipo2	C	A	19: 33,726,917 (GRCm39)	W40L	probably damaging	Het
Mgam	A	T	6: 40,734,745 (GRCm39)		probably null	Het
Myo16	T	A	8: 10,619,700 (GRCm39)	I1417N	unknown	Het
Or4a66	T	A	2: 88,531,137 (GRCm39)	I179F	probably benign	Het
Or52e19b	A	T	7: 103,032,667 (GRCm39)	C181S	probably damaging	Het
Or5j3	G	A	2: 86,128,526 (GRCm39)	R122H	probably benign	Het
Pcdha11	A	G	18: 37,145,307 (GRCm39)	N466S	probably damaging	Het
Pif1	C	T	9: 65,499,076 (GRCm39)	T432M	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Pole	T	C	5: 110,459,949 (GRCm39)	S1118P	possibly damaging	Het
Ppp4r4	T	C	12: 103,566,706 (GRCm39)	M652T	probably benign	Het
Prex2	A	T	1: 11,180,562 (GRCm39)	K376*	probably null	Het
Prps1l1	A	T	12: 35,035,205 (GRCm39)	I107F	probably damaging	Het
Resf1	T	A	6: 149,228,664 (GRCm39)	V570D	probably damaging	Het
Rfc1	C	T	5: 65,432,778 (GRCm39)	V761I	probably benign	Het
Ripk4	T	C	16: 97,547,203 (GRCm39)	E353G	probably benign	Het
Robo2	C	A	16: 73,767,941 (GRCm39)		probably null	Het
Rrm1	C	T	7: 102,117,545 (GRCm39)	A745V	probably benign	Het
Sash1	A	T	10: 8,606,179 (GRCm39)	V737D	probably benign	Het
Sel1l2	T	C	2: 140,127,209 (GRCm39)	K101E	probably benign	Het
Selenbp2	A	T	3: 94,607,337 (GRCm39)	I253F	probably benign	Het
Setd1a	C	T	7: 127,385,279 (GRCm39)	P662L	possibly damaging	Het
Slc16a6	C	T	11: 109,345,776 (GRCm39)	V496I	possibly damaging	Het
Slc4a4	A	T	5: 89,232,512 (GRCm39)	M239L	probably benign	Het
Slc7a8	G	C	14: 55,018,750 (GRCm39)	A12G	probably benign	Het
Snx30	T	C	4: 59,886,517 (GRCm39)	S309P	possibly damaging	Het
Spen	T	C	4: 141,197,701 (GRCm39)	N3389S	probably benign	Het
Spg11	T	C	2: 121,922,687 (GRCm39)	T921A	probably damaging	Het
Tanc2	T	A	11: 105,758,400 (GRCm39)	D720E	possibly damaging	Het
Tmprss9	A	T	10: 80,730,163 (GRCm39)	I688F	possibly damaging	Het
Trap1	A	G	16: 3,862,490 (GRCm39)	V596A	possibly damaging	Het
Ttc32	G	T	12: 9,080,187 (GRCm39)	R44L	probably benign	Het
Tusc3	T	A	8: 39,597,898 (GRCm39)	N288K	probably benign	Het
Ush2a	G	A	1: 188,127,956 (GRCm39)	G656E	probably damaging	Het
Vill	T	C	9: 118,892,671 (GRCm39)		probably null	Het
Vmn1r5	A	T	6: 56,963,182 (GRCm39)	R286*	probably null	Het
Vmn2r14	T	C	5: 109,365,533 (GRCm39)	T514A	probably benign	Het
Vmn2r32	G	A	7: 7,477,204 (GRCm39)	H396Y	probably benign	Het
Vmn2r75	A	T	7: 85,820,765 (GRCm39)	Y56*	probably null	Het
Wdfy3	C	T	5: 102,011,983 (GRCm39)	S2668N	probably benign	Het
Wdr72	G	A	9: 74,059,729 (GRCm39)	D392N	probably benign	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het

Other mutations in Or2n1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Or2n1d	APN	17	38,646,848 (GRCm39)	missense	probably benign	0.00
IGL01787:Or2n1d	APN	17	38,646,470 (GRCm39)	missense	probably damaging	0.98
IGL02480:Or2n1d	APN	17	38,646,314 (GRCm39)	missense	probably benign	0.32
IGL02603:Or2n1d	APN	17	38,646,404 (GRCm39)	missense	probably damaging	1.00
IGL03122:Or2n1d	APN	17	38,646,192 (GRCm39)	missense	probably benign	0.01
BB009:Or2n1d	UTSW	17	38,646,146 (GRCm39)	missense	probably benign	0.01
BB019:Or2n1d	UTSW	17	38,646,146 (GRCm39)	missense	probably benign	0.01
R0295:Or2n1d	UTSW	17	38,646,182 (GRCm39)	missense	probably damaging	1.00
R0684:Or2n1d	UTSW	17	38,646,735 (GRCm39)	missense	probably benign	0.11
R1874:Or2n1d	UTSW	17	38,646,860 (GRCm39)	missense	probably damaging	1.00
R3436:Or2n1d	UTSW	17	38,646,323 (GRCm39)	missense	probably damaging	1.00
R3437:Or2n1d	UTSW	17	38,646,323 (GRCm39)	missense	probably damaging	1.00
R4714:Or2n1d	UTSW	17	38,646,731 (GRCm39)	missense	possibly damaging	0.65
R4715:Or2n1d	UTSW	17	38,646,731 (GRCm39)	missense	possibly damaging	0.65
R4716:Or2n1d	UTSW	17	38,646,731 (GRCm39)	missense	possibly damaging	0.65
R4878:Or2n1d	UTSW	17	38,646,518 (GRCm39)	missense	probably benign
R5296:Or2n1d	UTSW	17	38,646,347 (GRCm39)	nonsense	probably null
R5370:Or2n1d	UTSW	17	38,646,335 (GRCm39)	nonsense	probably null
R5413:Or2n1d	UTSW	17	38,646,515 (GRCm39)	missense	probably benign	0.03
R5988:Or2n1d	UTSW	17	38,646,911 (GRCm39)	missense	probably damaging	1.00
R6156:Or2n1d	UTSW	17	38,646,064 (GRCm39)	missense	probably damaging	0.99
R6550:Or2n1d	UTSW	17	38,646,896 (GRCm39)	missense	possibly damaging	0.65
R7395:Or2n1d	UTSW	17	38,646,755 (GRCm39)	nonsense	probably null
R7417:Or2n1d	UTSW	17	38,646,183 (GRCm39)	missense	probably damaging	1.00
R7746:Or2n1d	UTSW	17	38,646,285 (GRCm39)	missense	probably benign	0.16
R7747:Or2n1d	UTSW	17	38,646,285 (GRCm39)	missense	probably benign	0.16
R7821:Or2n1d	UTSW	17	38,646,855 (GRCm39)	missense	probably benign	0.13
R7932:Or2n1d	UTSW	17	38,646,146 (GRCm39)	missense	probably benign	0.01
R8409:Or2n1d	UTSW	17	38,646,197 (GRCm39)	missense	probably benign	0.09
R8911:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R8912:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R8913:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R8914:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9006:Or2n1d	UTSW	17	38,646,723 (GRCm39)	missense	possibly damaging	0.84
R9044:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9110:Or2n1d	UTSW	17	38,646,434 (GRCm39)	missense	probably damaging	1.00
R9155:Or2n1d	UTSW	17	38,646,224 (GRCm39)	missense	probably damaging	0.99
R9279:Or2n1d	UTSW	17	38,646,414 (GRCm39)	missense	probably damaging	0.99
R9289:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9295:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9317:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9318:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9348:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9409:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9410:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9411:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9412:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9413:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9512:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9522:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
R9524:Or2n1d	UTSW	17	38,646,540 (GRCm39)	nonsense	probably null
R9547:Or2n1d	UTSW	17	38,646,341 (GRCm39)	missense	possibly damaging	0.80
R9580:Or2n1d	UTSW	17	38,646,320 (GRCm39)	missense	possibly damaging	0.94
V5088:Or2n1d	UTSW	17	38,646,050 (GRCm39)	start codon destroyed	probably null	0.99
Z1176:Or2n1d	UTSW	17	38,646,243 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTTGCTAACCATCCTTG -3'
(R):5'- GCAAAGATCACGCCAGTCAG -3'

Sequencing Primer
(F):5'- ACTCTTCTGATAACATATCCCATGG -3'
(R):5'- CGCCAGTCAGCCACATAATAG -3'

Posted On

2021-10-11