Mutagenetix > Incidental Mutation

Incidental Mutation 'R0622:Or2t44'

58741

Institutional Source

Beutler Lab

Gene Symbol

Or2t44

Ensembl Gene

ENSMUSG00000059504

Gene Name

olfactory receptor family 2 subfamily T member 44

Synonyms

MOR278-2, Olfr314, GA_x6K02T2NKPP-622179-621244

MMRRC Submission

038811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0622 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

58676965-58678095 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58677167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 36 (S36P)

Ref Sequence

ENSEMBL: ENSMUSP00000145387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076393] [ENSMUST00000205189]

AlphaFold

Q7TRZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076393
AA Change: S36P

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

SMART Domains

Protein: ENSMUSP00000075729
Gene: ENSMUSG00000059504
AA Change: S36P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	26	306	2.8e-50	PFAM
Pfam:7TM_GPCR_Srsx	33	249	2.1e-6	PFAM
Pfam:7tm_1	39	288	2.3e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205189
AA Change: S36P

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

SMART Domains

Protein: ENSMUSP00000145387
Gene: ENSMUSG00000059504
AA Change: S36P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	26	259	8.9e-42	PFAM
Pfam:7TM_GPCR_Srsx	33	246	9.4e-6	PFAM
Pfam:7tm_1	39	259	1.1e-25	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	T	A	13: 30,565,664 (GRCm39)	M243K	probably benign	Het
Ap1b1	A	G	11: 4,987,707 (GRCm39)	M744V	probably damaging	Het
Ccdc152	T	C	15: 3,327,660 (GRCm39)	N39S	probably damaging	Het
Cd163	G	A	6: 124,294,311 (GRCm39)	V490M	probably damaging	Het
Col6a5	G	T	9: 105,803,051 (GRCm39)	H1305N	unknown	Het
Cpb1	C	A	3: 20,303,982 (GRCm39)	D361Y	probably damaging	Het
Dchs1	T	A	7: 105,412,656 (GRCm39)	Y1248F	probably damaging	Het
Dhdds	G	C	4: 133,721,547 (GRCm39)	F83L	probably damaging	Het
Dsg4	T	A	18: 20,582,845 (GRCm39)	V161E	possibly damaging	Het
Exosc4	A	G	15: 76,211,736 (GRCm39)	D15G	probably damaging	Het
F3	A	T	3: 121,518,668 (GRCm39)	D44V	probably damaging	Het
Fat2	A	T	11: 55,173,954 (GRCm39)	F2253Y	probably damaging	Het
Fbn1	T	C	2: 125,220,944 (GRCm39)	D650G	possibly damaging	Het
Gramd4	T	A	15: 85,975,590 (GRCm39)	F36I	probably damaging	Het
Grm7	G	A	6: 111,335,457 (GRCm39)	A623T	probably damaging	Het
Gys1	A	T	7: 45,089,419 (GRCm39)	T193S	probably damaging	Het
Hectd4	A	G	5: 121,486,688 (GRCm39)	T3228A	possibly damaging	Het
Itpk1	G	T	12: 102,540,239 (GRCm39)	D281E	probably damaging	Het
Kcnh7	A	C	2: 62,667,633 (GRCm39)		probably null	Het
Klhl29	A	G	12: 5,131,224 (GRCm39)	L852P	probably damaging	Het
Lrch1	T	C	14: 75,033,491 (GRCm39)	Y509C	probably benign	Het
Lrp1b	A	G	2: 41,618,563 (GRCm39)		probably null	Het
Mcpt4	C	A	14: 56,298,119 (GRCm39)	R144L	probably benign	Het
Mia2	C	T	12: 59,178,364 (GRCm39)	R12W	probably damaging	Het
Mrps5	A	G	2: 127,436,451 (GRCm39)	K116R	probably benign	Het
Myrf	G	A	19: 10,200,816 (GRCm39)	P286S	probably damaging	Het
Nanp	A	G	2: 150,881,164 (GRCm39)	M28T	probably benign	Het
Neb	T	C	2: 52,102,963 (GRCm39)	I4472V	probably benign	Het
Nfix	A	C	8: 85,453,111 (GRCm39)	N314K	probably damaging	Het
Nlrc3	C	T	16: 3,771,832 (GRCm39)	R849Q	probably benign	Het
Nup210l	G	A	3: 90,075,047 (GRCm39)	V786M	probably damaging	Het
Or52ad1	A	G	7: 102,996,064 (GRCm39)	S24P	probably damaging	Het
Or6z5	T	C	7: 6,477,598 (GRCm39)	I163T	possibly damaging	Het
Or8c20	A	G	9: 38,260,667 (GRCm39)	N96S	possibly damaging	Het
Pdia4	A	T	6: 47,783,452 (GRCm39)	F197Y	probably damaging	Het
Phldb1	T	C	9: 44,627,149 (GRCm39)	D432G	probably damaging	Het
Pik3ca	A	G	3: 32,490,701 (GRCm39)	E116G	probably damaging	Het
Polq	T	C	16: 36,881,355 (GRCm39)	V1173A	probably benign	Het
Pou2f3	C	T	9: 43,036,414 (GRCm39)	R423H	probably damaging	Het
Pramel29	T	C	4: 143,939,583 (GRCm39)		probably benign	Het
Prkag2	T	C	5: 25,074,247 (GRCm39)	N246S	probably damaging	Het
Proser1	A	G	3: 53,385,281 (GRCm39)	S388G	probably benign	Het
Ralgps1	G	A	2: 33,064,459 (GRCm39)	R238*	probably null	Het
Rfx2	T	C	17: 57,084,071 (GRCm39)	D657G	probably damaging	Het
Ryr3	A	G	2: 112,492,900 (GRCm39)	F3724S	probably damaging	Het
Sh2d5	T	C	4: 137,986,539 (GRCm39)	S421P	probably damaging	Het
Slc34a1	C	A	13: 23,996,594 (GRCm39)	T33K	probably damaging	Het
St8sia5	A	G	18: 77,333,809 (GRCm39)	T156A	probably damaging	Het
Stk32c	T	C	7: 138,768,026 (GRCm39)	D85G	probably benign	Het
Tnks	A	G	8: 35,407,976 (GRCm39)	S251P	probably damaging	Het
Tnxb	T	A	17: 34,937,703 (GRCm39)	L3864Q	probably damaging	Het
Trim9	A	G	12: 70,393,378 (GRCm39)	Y189H	probably damaging	Het
Vmn1r77	T	G	7: 11,775,315 (GRCm39)	F30L	probably benign	Het
Wasf3	A	G	5: 146,403,602 (GRCm39)		probably null	Het
Wdr90	C	T	17: 26,074,632 (GRCm39)	C603Y	probably damaging	Het
Zdhhc25	T	C	15: 88,485,310 (GRCm39)	L215P	probably damaging	Het
Zeb1	C	T	18: 5,759,123 (GRCm39)	Q140*	probably null	Het
Zfp677	C	T	17: 21,617,962 (GRCm39)	L340F	probably benign	Het

Other mutations in Or2t44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02036:Or2t44	APN	11	58,677,923 (GRCm39)	missense	probably damaging	1.00
IGL02268:Or2t44	APN	11	58,677,551 (GRCm39)	missense	probably benign	0.39
IGL02743:Or2t44	APN	11	58,677,606 (GRCm39)	nonsense	probably null
R0157:Or2t44	UTSW	11	58,677,885 (GRCm39)	missense	probably damaging	1.00
R0926:Or2t44	UTSW	11	58,677,935 (GRCm39)	missense	probably damaging	1.00
R1985:Or2t44	UTSW	11	58,677,210 (GRCm39)	missense	probably damaging	0.99
R2273:Or2t44	UTSW	11	58,677,492 (GRCm39)	missense	probably benign	0.00
R2274:Or2t44	UTSW	11	58,677,492 (GRCm39)	missense	probably benign	0.00
R5642:Or2t44	UTSW	11	58,677,654 (GRCm39)	missense	probably damaging	1.00
R5770:Or2t44	UTSW	11	58,677,420 (GRCm39)	missense	probably benign	0.39
R6292:Or2t44	UTSW	11	58,677,063 (GRCm39)	start codon destroyed	probably null	0.94
R6813:Or2t44	UTSW	11	58,677,472 (GRCm39)	missense	probably benign	0.06
R7285:Or2t44	UTSW	11	58,677,310 (GRCm39)	nonsense	probably null
R8944:Or2t44	UTSW	11	58,677,519 (GRCm39)	missense	probably damaging	1.00
R9076:Or2t44	UTSW	11	58,677,559 (GRCm39)	missense	possibly damaging	0.90
R9656:Or2t44	UTSW	11	58,677,635 (GRCm39)	missense	possibly damaging	0.79
Z1186:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1187:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1188:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1189:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1190:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1191:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1192:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGTACTTCACACAGCATCACAG -3'
(R):5'- TGCTAAGAGGAAGCACTCTCCACC -3'

Sequencing Primer
(F):5'- AGGTGAGGAAACTCCTCTGTC -3'
(R):5'- GATCTGGAAGCCACAGCC -3'

Posted On

2013-07-11