Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Gucy2d'

730534

Institutional Source

Beutler Lab

Gene Symbol

Gucy2d

Ensembl Gene

ENSMUSG00000074003

Gene Name

guanylate cyclase 2d

Synonyms

guanylyl cyclase D

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98089623-98126685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98123868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 151 (K151R)

Ref Sequence

ENSEMBL: ENSMUSP00000145913 (fasta)

Gene Model

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

AlphaFold

A0A0U1RPR8

Predicted Effect

probably benign
Transcript: ENSMUST00000098274
AA Change: K1054R

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095875
Gene: ENSMUSG00000074003
AA Change: K1054R

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
AA Change: K151R

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000206435
AA Change: K1055R

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,668,900 (GRCm39)	N2552I	probably damaging	Het
Amph	G	T	13: 19,309,253 (GRCm39)	A444S	probably benign	Het
Ankrd52	A	G	10: 128,216,457 (GRCm39)	N157S	probably benign	Het
Arhgap29	T	C	3: 121,797,920 (GRCm39)	F537L	probably benign	Het
Asic1	A	C	15: 99,590,657 (GRCm39)	T136P	probably damaging	Het
Atg2b	T	C	12: 105,605,561 (GRCm39)	Y1468C	probably benign	Het
Atm	A	G	9: 53,427,817 (GRCm39)	L431P	probably damaging	Het
Atosb	T	C	4: 43,036,050 (GRCm39)	H227R	probably damaging	Het
Btaf1	A	G	19: 36,922,646 (GRCm39)	T17A	probably benign	Het
Car10	A	G	11: 93,195,367 (GRCm39)	N58S	probably benign	Het
Cd79b	A	T	11: 106,202,845 (GRCm39)	D252E	probably damaging	Het
Cdipt	C	T	7: 126,576,202 (GRCm39)		probably benign	Het
Cebpe	T	C	14: 54,949,165 (GRCm39)	D84G	probably damaging	Het
Cenpj	T	C	14: 56,790,453 (GRCm39)	E532G	probably benign	Het
Cherp	A	G	8: 73,216,920 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,071,109 (GRCm39)	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,374,603 (GRCm39)	T9I	probably benign	Het
Clspn	G	T	4: 126,458,756 (GRCm39)	A280S	possibly damaging	Het
Cts3	T	G	13: 61,712,799 (GRCm39)	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,556,493 (GRCm39)	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,582,447 (GRCm39)	R386H	probably damaging	Het
Dhx58	A	T	11: 100,592,133 (GRCm39)	M305K	probably benign	Het
Dlgap3	T	C	4: 127,129,287 (GRCm39)	L894P	probably damaging	Het
Dnah3	A	T	7: 119,574,299 (GRCm39)	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,608,044 (GRCm39)	N183S	probably benign	Het
Drd5	G	T	5: 38,478,090 (GRCm39)	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,135,622 (GRCm39)	E159G	probably damaging	Het
Exoc1	T	A	5: 76,711,079 (GRCm39)	S659R	probably benign	Het
Fbln7	T	C	2: 128,719,314 (GRCm39)	I37T	probably benign	Het
Fcgrt	T	G	7: 44,744,853 (GRCm39)	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,900,202 (GRCm39)	S304T	probably damaging	Het
Gbp9	C	A	5: 105,253,587 (GRCm39)	G43*	probably null	Het
Heatr4	T	A	12: 84,024,829 (GRCm39)	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,485,378 (GRCm39)	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,890,551 (GRCm39)	T156M	probably benign	Het
Hrnr	A	T	3: 93,227,987 (GRCm39)	E35V	probably damaging	Het
Idua	C	T	5: 108,818,037 (GRCm39)	Q70*	probably null	Het
Klf5	A	T	14: 99,539,189 (GRCm39)	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,701,164 (GRCm39)	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,158,395 (GRCm39)	D1721E		Het
Mdh1	T	A	11: 21,521,870 (GRCm39)		probably benign	Het
Mllt11	T	C	3: 95,127,521 (GRCm39)	H83R	probably benign	Het
Mrgprb4	A	C	7: 47,848,583 (GRCm39)	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,023,296 (GRCm39)	F319S	probably damaging	Het
Naif1	A	T	2: 32,344,907 (GRCm39)	M204L	probably benign	Het
Ncan	T	A	8: 70,554,628 (GRCm39)	D1063V	probably damaging	Het
Noto	A	T	6: 85,401,327 (GRCm39)	R119W	possibly damaging	Het
Or4c115	G	A	2: 88,927,573 (GRCm39)	L233F	probably benign	Het
Or51h7	A	T	7: 102,591,165 (GRCm39)	D206E	probably damaging	Het
Or6c69	T	A	10: 129,748,048 (GRCm39)	Y33F	probably damaging	Het
Or8b3	A	T	9: 38,314,841 (GRCm39)	I224F	probably damaging	Het
Ovch2	A	G	7: 107,393,584 (GRCm39)	W181R	probably damaging	Het
Palm	G	C	10: 79,655,117 (GRCm39)	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,205,787 (GRCm39)	L591*	probably null	Het
Pik3c2g	T	C	6: 139,841,910 (GRCm39)	S772P		Het
Prx	C	A	7: 27,217,411 (GRCm39)	D776E	probably benign	Het
Ptpra	A	G	2: 130,384,366 (GRCm39)	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,807,359 (GRCm39)	Y25C	probably damaging	Het
Reln	T	C	5: 22,136,427 (GRCm39)	T2534A	probably benign	Het
Rnf123	T	C	9: 107,954,963 (GRCm39)	S14G	probably benign	Het
Rock2	A	G	12: 17,015,602 (GRCm39)	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,111 (GRCm39)	V87A	possibly damaging	Het
S100b	G	A	10: 76,092,936 (GRCm39)	G23D	probably damaging	Het
Scn9a	T	A	2: 66,357,002 (GRCm39)	M1100L	probably benign	Het
Septin11	T	A	5: 93,296,266 (GRCm39)	S55T	possibly damaging	Het
Speer4a3	T	C	5: 26,154,829 (GRCm39)	E257G	probably damaging	Het
Sv2b	T	A	7: 74,769,676 (GRCm39)	Q622L	probably benign	Het
Taar7a	T	C	10: 23,868,799 (GRCm39)	D194G	probably benign	Het
Trappc3	T	C	4: 126,169,014 (GRCm39)	I168T	probably benign	Het
Trim27	T	C	13: 21,374,296 (GRCm39)		probably null	Het
Wdr49	G	A	3: 75,304,359 (GRCm39)	T109I	probably benign	Het
Wdr64	T	C	1: 175,544,854 (GRCm39)	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,247,049 (GRCm39)	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,593,829 (GRCm39)	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,312,332 (GRCm39)	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,539,334 (GRCm39)	A289T	probably benign	Het
Zscan5b	T	C	7: 6,234,525 (GRCm39)	S184P	possibly 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
R2351:Gucy2d	UTSW	7	98,113,226 (GRCm39)	missense	probably benign	0.02
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
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'- ACACAGTGCATGCATCAGG -3'
(R):5'- TTCCAGTAGTCAGGCCTTTG -3'

Sequencing Primer
(F):5'- GCATCAGGTTTTTAGCATCCCAGG -3'
(R):5'- CCAGTAGTCAGGCCTTTGATGATC -3'

Posted On

2022-10-06