Mutagenetix > Incidental Mutation

Incidental Mutation 'R2351:Gucy2d'

246134

Institutional Source

Beutler Lab

Gene Symbol

Gucy2d

Ensembl Gene

ENSMUSG00000074003

Gene Name

guanylate cyclase 2d

Synonyms

guanylyl cyclase D

MMRRC Submission

040333-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R2351 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98089623-98126685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98113226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 840 (D840G)

Ref Sequence

ENSEMBL: ENSMUSP00000146093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098274] [ENSMUST00000205350] [ENSMUST00000206435]

AlphaFold

A0A0U1RPR8

Predicted Effect

probably benign
Transcript: ENSMUST00000098274
AA Change: D839G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000095875
Gene: ENSMUSG00000074003
AA Change: D839G

Domain	Start	End	E-Value	Type
low complexity region	39	65	N/A	INTRINSIC
Pfam:ANF_receptor	88	421	6.7e-49	PFAM
transmembrane domain	479	501	N/A	INTRINSIC
Pfam:Pkinase_Tyr	562	811	1.4e-33	PFAM
Pfam:Pkinase	575	811	1.3e-28	PFAM
CYCc	850	1045	8.67e-102	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205350

Predicted Effect

probably benign
Transcript: ENSMUST00000206435
AA Change: D840G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206635

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozugous for a null allele lack olfactory response to uroguanylin and guanylin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,846 (GRCm39)	Y135*	probably null	Het
Aadacl4fm1	A	T	4: 144,255,348 (GRCm39)	Y256F	probably damaging	Het
Acad10	A	T	5: 121,767,990 (GRCm39)	I820K	probably benign	Het
Arl8b	A	T	6: 108,798,484 (GRCm39)	I178F	possibly damaging	Het
Asap1	A	T	15: 64,007,653 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,766,718 (GRCm39)	I552N	possibly damaging	Het
C130074G19Rik	G	T	1: 184,615,060 (GRCm39)	D43E	probably benign	Het
Ccdc162	C	A	10: 41,431,968 (GRCm39)		probably null	Het
Ccdc186	T	G	19: 56,787,129 (GRCm39)	K613T	possibly damaging	Het
Cggbp1	T	A	16: 64,676,046 (GRCm39)	D37E	possibly damaging	Het
Cntn3	A	T	6: 102,314,344 (GRCm39)	N123K	possibly damaging	Het
Col18a1	C	T	10: 76,948,538 (GRCm39)	G325S	probably benign	Het
Cwc25	G	T	11: 97,638,218 (GRCm39)	T405K	probably damaging	Het
Cyp4a31	T	C	4: 115,428,510 (GRCm39)	V370A	possibly damaging	Het
Cyp4f13	T	G	17: 33,144,570 (GRCm39)	I309L	probably benign	Het
Dap3	A	T	3: 88,840,870 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,403,301 (GRCm39)	D3080E	probably benign	Het
Ern2	A	G	7: 121,770,731 (GRCm39)	V762A	probably damaging	Het
Fgr	C	T	4: 132,724,548 (GRCm39)	R255C	probably damaging	Het
Gcm2	A	T	13: 41,257,094 (GRCm39)	D218E	probably benign	Het
Gfi1	A	G	5: 107,869,640 (GRCm39)	S131P	probably damaging	Het
Grm8	A	T	6: 28,126,118 (GRCm39)	C3S	possibly damaging	Het
H3f3a	T	C	1: 180,637,723 (GRCm39)	T81A	probably benign	Het
Igsf23	C	T	7: 19,678,723 (GRCm39)	W22*	probably null	Het
Il12rb2	G	A	6: 67,338,928 (GRCm39)	Q3*	probably null	Het
Ino80d	A	T	1: 63,124,994 (GRCm39)	L156H	probably benign	Het
Kdm2a	G	A	19: 4,379,154 (GRCm39)	P554S	probably benign	Het
Lefty1	T	A	1: 180,764,807 (GRCm39)	L244H	possibly damaging	Het
Mdn1	T	A	4: 32,750,010 (GRCm39)	S4398T	probably benign	Het
Myh10	A	G	11: 68,683,965 (GRCm39)	D1126G	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myom1	A	T	17: 71,341,574 (GRCm39)	D111V	probably damaging	Het
Naip6	T	A	13: 100,420,169 (GRCm39)	D1367V	probably damaging	Het
Nbeal1	A	T	1: 60,276,257 (GRCm39)	H666L	possibly damaging	Het
Nsmaf	T	A	4: 6,437,921 (GRCm39)	I77F	probably damaging	Het
Nvl	T	C	1: 180,958,357 (GRCm39)	T231A	probably benign	Het
Obscn	T	C	11: 59,003,438 (GRCm39)	R1287G	probably damaging	Het
Opn3	T	C	1: 175,520,077 (GRCm39)	D9G	probably benign	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or4c114	C	T	2: 88,904,743 (GRCm39)	G231S	possibly damaging	Het
Or6a2	A	T	7: 106,600,883 (GRCm39)	Y61*	probably null	Het
Or6c8b	A	G	10: 128,882,797 (GRCm39)	V45A	probably benign	Het
Or6k2	T	A	1: 173,986,486 (GRCm39)	V49D	probably damaging	Het
Or8k24	C	T	2: 86,216,471 (GRCm39)	C97Y	probably damaging	Het
Parp10	A	T	15: 76,127,056 (GRCm39)	S101R	probably benign	Het
Pdhx	T	A	2: 102,854,562 (GRCm39)	K399*	probably null	Het
Pdia4	A	T	6: 47,773,848 (GRCm39)		probably null	Het
Pla2g4f	T	C	2: 120,130,923 (GRCm39)	D844G	probably benign	Het
Prtg	C	A	9: 72,764,106 (GRCm39)	D526E	probably damaging	Het
Rassf6	T	C	5: 90,779,418 (GRCm39)	D5G	probably benign	Het
Riok3	C	T	18: 12,282,724 (GRCm39)	Q388*	probably null	Het
Robo4	T	A	9: 37,322,956 (GRCm39)	F825L	probably benign	Het
Rpl13a-ps1	C	T	19: 50,018,868 (GRCm39)	E103K	probably benign	Het
Rpl18a	A	T	8: 71,348,864 (GRCm39)	H37Q	probably benign	Het
Ryr1	A	T	7: 28,774,718 (GRCm39)	S2301T	probably benign	Het
Slc39a9	T	A	12: 80,691,660 (GRCm39)	D2E	possibly damaging	Het
Slco5a1	C	T	1: 13,060,158 (GRCm39)	V188I	probably benign	Het
Son	T	A	16: 91,454,547 (GRCm39)	M1098K	probably damaging	Het
Spag9	A	G	11: 93,983,726 (GRCm39)	D701G	probably damaging	Het
Ssmem1	T	C	6: 30,512,495 (GRCm39)	F46S	possibly damaging	Het
Sspo	C	T	6: 48,441,803 (GRCm39)	R1938W	probably damaging	Het
Sstr3	T	C	15: 78,424,121 (GRCm39)	I209V	probably benign	Het
Tlk2	A	G	11: 105,100,656 (GRCm39)	Y87C	probably damaging	Het
Traf4	G	A	11: 78,051,002 (GRCm39)	R385W	probably damaging	Het
Triobp	G	A	15: 78,888,780 (GRCm39)	V1962M	probably benign	Het
Tspan12	T	G	6: 21,835,506 (GRCm39)	I56L	probably benign	Het
Upp2	T	A	2: 58,653,674 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,869,457 (GRCm39)	W2654R	probably damaging	Het
Zc3h18	C	T	8: 123,129,926 (GRCm39)	R435*	probably null	Het
Zfta	T	C	19: 7,399,609 (GRCm39)	I247T	probably damaging	Het

Other mutations in Gucy2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01145:Gucy2d	APN	7	98,099,170 (GRCm39)	missense	probably benign	0.03
IGL02093:Gucy2d	APN	7	98,092,755 (GRCm39)	nonsense	probably null
IGL02839:Gucy2d	APN	7	98,093,196 (GRCm39)	missense	possibly damaging	0.81
IGL02904:Gucy2d	APN	7	98,111,396 (GRCm39)	splice site	probably null
IGL03253:Gucy2d	APN	7	98,100,871 (GRCm39)	missense	probably benign	0.03
IGL03349:Gucy2d	APN	7	98,099,048 (GRCm39)	missense	possibly damaging	0.75
R0025:Gucy2d	UTSW	7	98,116,959 (GRCm39)	missense	probably benign
R0362:Gucy2d	UTSW	7	98,092,892 (GRCm39)	missense	probably damaging	1.00
R0379:Gucy2d	UTSW	7	98,108,209 (GRCm39)	splice site	probably null
R0381:Gucy2d	UTSW	7	98,108,209 (GRCm39)	splice site	probably null
R0507:Gucy2d	UTSW	7	98,108,209 (GRCm39)	splice site	probably null
R0890:Gucy2d	UTSW	7	98,122,472 (GRCm39)	missense	probably benign	0.43
R1720:Gucy2d	UTSW	7	98,126,437 (GRCm39)	missense	probably benign	0.28
R1721:Gucy2d	UTSW	7	98,103,268 (GRCm39)	missense	probably damaging	0.99
R1867:Gucy2d	UTSW	7	98,103,268 (GRCm39)	missense	probably damaging	0.99
R1868:Gucy2d	UTSW	7	98,103,268 (GRCm39)	missense	probably damaging	0.99
R1884:Gucy2d	UTSW	7	98,100,815 (GRCm39)	missense	probably benign	0.00
R1913:Gucy2d	UTSW	7	98,093,054 (GRCm39)	missense	probably benign	0.14
R4683:Gucy2d	UTSW	7	98,102,650 (GRCm39)	missense	probably benign	0.33
R5079:Gucy2d	UTSW	7	98,107,475 (GRCm39)	critical splice acceptor site	probably null
R5285:Gucy2d	UTSW	7	98,107,474 (GRCm39)	splice site	probably null
R5433:Gucy2d	UTSW	7	98,098,982 (GRCm39)	missense	probably damaging	1.00
R5859:Gucy2d	UTSW	7	98,101,090 (GRCm39)	missense	probably benign
R6148:Gucy2d	UTSW	7	98,093,030 (GRCm39)	missense	probably benign
R6468:Gucy2d	UTSW	7	98,099,168 (GRCm39)	missense	probably benign	0.00
R6909:Gucy2d	UTSW	7	98,116,832 (GRCm39)	missense	probably damaging	0.99
R7400:Gucy2d	UTSW	7	98,092,847 (GRCm39)	missense	possibly damaging	0.95
R7483:Gucy2d	UTSW	7	98,098,964 (GRCm39)	missense	probably damaging	1.00
R7707:Gucy2d	UTSW	7	98,100,876 (GRCm39)	missense	possibly damaging	0.75
R7903:Gucy2d	UTSW	7	98,108,272 (GRCm39)	missense	probably damaging	1.00
R8277:Gucy2d	UTSW	7	98,092,682 (GRCm39)	missense	probably benign
R8412:Gucy2d	UTSW	7	98,093,046 (GRCm39)	missense	possibly damaging	0.84
R8466:Gucy2d	UTSW	7	98,099,237 (GRCm39)	missense	probably damaging	0.98
R8520:Gucy2d	UTSW	7	98,121,513 (GRCm39)	missense	probably null	1.00
R8715:Gucy2d	UTSW	7	98,093,319 (GRCm39)	missense	probably benign	0.05
R8765:Gucy2d	UTSW	7	98,108,347 (GRCm39)	missense	probably benign	0.13
R8824:Gucy2d	UTSW	7	98,092,676 (GRCm39)	missense	possibly damaging	0.59
R9165:Gucy2d	UTSW	7	98,103,271 (GRCm39)	missense	probably benign	0.00
R9252:Gucy2d	UTSW	7	98,116,979 (GRCm39)	critical splice donor site	probably null
R9502:Gucy2d	UTSW	7	98,107,942 (GRCm39)	missense	probably benign
R9660:Gucy2d	UTSW	7	98,099,064 (GRCm39)	missense	probably damaging	1.00
R9699:Gucy2d	UTSW	7	98,108,290 (GRCm39)	missense	probably damaging	1.00
R9717:Gucy2d	UTSW	7	98,123,868 (GRCm39)	missense	probably benign	0.24
R9736:Gucy2d	UTSW	7	98,092,683 (GRCm39)	nonsense	probably null
R9773:Gucy2d	UTSW	7	98,099,048 (GRCm39)	missense	possibly damaging	0.75
RF030:Gucy2d	UTSW	7	98,108,241 (GRCm39)	small insertion	probably benign
RF055:Gucy2d	UTSW	7	98,108,248 (GRCm39)	small insertion	probably benign
RF064:Gucy2d	UTSW	7	98,108,250 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCCCACATAGAGGTTCCCC -3'
(R):5'- CACAGTGTGTAGGAATGAATTACTG -3'

Sequencing Primer
(F):5'- TAGAGGTTCCCCCACATCC -3'
(R):5'- GAATTACTGAACAAGCTCATCGAG -3'

Posted On

2014-10-30