Mutagenetix > Incidental Mutation

Incidental Mutation 'R7985:Pycr1'

651444

Institutional Source

Beutler Lab

Gene Symbol

Pycr1

Ensembl Gene

ENSMUSG00000025140

Gene Name

pyrroline-5-carboxylate reductase 1

Synonyms

MMRRC Submission

046026-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120527591-120534602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120533746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 37 (M37K)

Ref Sequence

ENSEMBL: ENSMUSP00000026133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026133] [ENSMUST00000026134] [ENSMUST00000139706] [ENSMUST00000141254] [ENSMUST00000151876] [ENSMUST00000170556]

AlphaFold

Q922W5

Predicted Effect

probably benign
Transcript: ENSMUST00000026133
AA Change: M37K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026133
Gene: ENSMUSG00000025140
AA Change: M37K

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	5e-23	PFAM
Pfam:NAD_Gly3P_dh_N	2	144	9e-9	PFAM
Pfam:P5CR_dimer	162	268	2e-42	PFAM
low complexity region	292	303	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026134

SMART Domains

Protein: ENSMUSP00000026134
Gene: ENSMUSG00000025141

Domain	Start	End	E-Value	Type
Pfam:MARVEL	17	149	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139706
AA Change: M37K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117737
Gene: ENSMUSG00000025140
AA Change: M37K

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	8.9e-25	PFAM
Pfam:NAD_Gly3P_dh_N	2	145	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141254
AA Change: M37K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114863
Gene: ENSMUSG00000025140
AA Change: M37K

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	2.5e-24	PFAM
Pfam:NAD_Gly3P_dh_N	2	145	3.5e-9	PFAM
Pfam:P5CR_dimer	162	238	6.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151876
AA Change: M7K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120558
Gene: ENSMUSG00000025140
AA Change: M7K

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	1	68	5.7e-13	PFAM
Pfam:NAD_Gly3P_dh_N	13	119	3e-8	PFAM
Pfam:P5CR_dimer	132	164	2.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170556
AA Change: M37K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131199
Gene: ENSMUSG00000025140
AA Change: M37K

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	8.4e-24	PFAM
Pfam:P5CR_dimer	163	267	2.3e-40	PFAM
low complexity region	292	303	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,494,693 (GRCm39)	S77R	unknown	Het
Adamts1	T	C	16: 85,595,002 (GRCm39)	Y582C	probably damaging	Het
Ahnak2	A	T	12: 112,745,398 (GRCm39)	V683E		Het
Allc	T	G	12: 28,603,971 (GRCm39)	T371P	probably damaging	Het
Ankrd12	A	G	17: 66,291,191 (GRCm39)	I1414T	probably benign	Het
Bahcc1	A	G	11: 120,163,717 (GRCm39)	K672E	probably damaging	Het
C3ar1	A	T	6: 122,826,964 (GRCm39)	S418T	probably damaging	Het
Calca	A	G	7: 114,234,413 (GRCm39)	V12A	possibly damaging	Het
Carmil3	A	G	14: 55,734,409 (GRCm39)	E410G	probably benign	Het
Cfh	A	G	1: 140,036,564 (GRCm39)	F680S	probably damaging	Het
Cracd	T	C	5: 76,805,897 (GRCm39)	V123A	unknown	Het
Csf3	G	A	11: 98,593,273 (GRCm39)	G130D	probably damaging	Het
Cuedc1	A	T	11: 88,073,342 (GRCm39)	Q169L	probably benign	Het
Cyp2c66	T	A	19: 39,102,430 (GRCm39)	W20R	probably null	Het
Dguok	C	T	6: 83,457,914 (GRCm39)	E240K	probably damaging	Het
Dlg1	T	G	16: 31,606,923 (GRCm39)	Y220*	probably null	Het
Dnah7a	T	C	1: 53,557,886 (GRCm39)	Y2176C	probably damaging	Het
Dnai1	T	C	4: 41,630,055 (GRCm39)	I488T	probably benign	Het
Dock1	G	T	7: 134,348,683 (GRCm39)	C299F	possibly damaging	Het
Ebi3	C	T	17: 56,260,997 (GRCm39)	T59M	probably benign	Het
Esrp1	G	A	4: 11,367,153 (GRCm39)	S160F	probably benign	Het
Evi5l	A	G	8: 4,253,536 (GRCm39)	D471G	probably benign	Het
Farp2	T	C	1: 93,504,246 (GRCm39)	F341S	probably damaging	Het
Fbn1	A	G	2: 125,143,798 (GRCm39)	V2777A	probably benign	Het
Glcci1	T	C	6: 8,573,186 (GRCm39)	I225T	probably damaging	Het
Gm3336	A	G	8: 71,173,176 (GRCm39)	T63A	unknown	Het
Gm9767	A	G	10: 25,954,681 (GRCm39)	T78A	unknown	Het
H2-T5	T	G	17: 36,478,445 (GRCm39)	T168P	probably damaging	Het
Habp4	T	A	13: 64,323,860 (GRCm39)	M261K	probably benign	Het
Herc2	A	G	7: 55,814,992 (GRCm39)	T2744A	probably benign	Het
Hlx	A	G	1: 184,464,223 (GRCm39)	V39A	probably benign	Het
Ifi204	G	A	1: 173,587,772 (GRCm39)	T129I	possibly damaging	Het
Itfg1	A	G	8: 86,452,197 (GRCm39)	I534T	probably damaging	Het
Klhl33	A	T	14: 51,128,962 (GRCm39)	C496S	probably benign	Het
Lamb1	T	A	12: 31,350,214 (GRCm39)	V713D	possibly damaging	Het
Mon2	G	T	10: 122,852,213 (GRCm39)	H1052Q	probably damaging	Het
Ndst2	T	C	14: 20,778,478 (GRCm39)		probably null	Het
Nphp1	A	T	2: 127,587,829 (GRCm39)	M582K	probably damaging	Het
Nt5el	C	T	13: 105,256,482 (GRCm39)	T517I	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or2w3b	A	G	11: 58,623,532 (GRCm39)	V153A	possibly damaging	Het
Or8b47	T	A	9: 38,435,239 (GRCm39)	D70E	probably damaging	Het
Padi2	A	T	4: 140,659,403 (GRCm39)	H236L	probably benign	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Psenen	T	C	7: 30,261,503 (GRCm39)	I75V	probably benign	Het
Rpl4	T	A	9: 64,085,212 (GRCm39)	N317K	probably damaging	Het
Scart2	T	A	7: 139,876,806 (GRCm39)	D732E	probably damaging	Het
Scn8a	T	A	15: 100,914,843 (GRCm39)		probably null	Het
Sdk1	A	G	5: 142,113,602 (GRCm39)	T1550A	probably damaging	Het
Shisa6	G	T	11: 66,265,990 (GRCm39)	T246K		Het
Sis	A	T	3: 72,844,294 (GRCm39)		probably null	Het
Slc22a14	A	C	9: 118,999,704 (GRCm39)	S496A	probably benign	Het
Slc8a3	G	A	12: 81,361,767 (GRCm39)	R351C	probably damaging	Het
Surf2	A	G	2: 26,809,288 (GRCm39)	K202R	probably benign	Het
Tnxb	T	A	17: 34,935,984 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,239,983 (GRCm39)	N134I	probably damaging	Het
Wdr97	T	C	15: 76,245,687 (GRCm39)	V1308A		Het
Xpr1	G	A	1: 155,188,641 (GRCm39)	A333V	possibly damaging	Het
Zfp408	A	T	2: 91,476,776 (GRCm39)	M126K	probably benign	Het
Zfy2	T	C	Y: 2,116,263 (GRCm39)	Q259R	probably benign	Het

Other mutations in Pycr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01811:Pycr1	APN	11	120,532,092 (GRCm39)	missense	probably benign	0.00
R0285:Pycr1	UTSW	11	120,531,142 (GRCm39)	missense	probably benign	0.01
R0400:Pycr1	UTSW	11	120,532,352 (GRCm39)	splice site	probably benign
R2047:Pycr1	UTSW	11	120,532,512 (GRCm39)	missense	possibly damaging	0.89
R3548:Pycr1	UTSW	11	120,533,072 (GRCm39)	missense	probably benign	0.22
R3925:Pycr1	UTSW	11	120,532,961 (GRCm39)	missense	probably benign	0.09
R3926:Pycr1	UTSW	11	120,532,961 (GRCm39)	missense	probably benign	0.09
R4166:Pycr1	UTSW	11	120,532,949 (GRCm39)	missense	probably benign	0.00
R5261:Pycr1	UTSW	11	120,532,050 (GRCm39)	missense	probably damaging	1.00
R5906:Pycr1	UTSW	11	120,532,988 (GRCm39)	missense	probably damaging	0.98
R7426:Pycr1	UTSW	11	120,533,749 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTATTCACGACAGGGCAGG -3'
(R):5'- TAAATTCTGCTGCTGCCAGGG -3'

Sequencing Primer
(F):5'- GCAGGGGAGCAGTACCTG -3'
(R):5'- CCTCAGTCCTTTGGGAAATGACAG -3'

Posted On

2020-09-15